FlyBase Gene Report: Dmel\scu

General Information

Symbol

Dmel\scu

Species

D. melanogaster

Name

scully

Annotation Symbol

CG7113

Feature Type

protein_coding_gene

FlyBase ID

FBgn0021765

Gene Model Status

Current

Stock Availability

16 publicly available

Enzyme Name (EC)

7beta-hydroxysteroid dehydrogenase (NADP(+)) (1.1.1.201)

3alpha-(17beta)-hydroxysteroid dehydrogenase (NAD(+)) (1.1.1.239)

acetoacetyl-CoA reductase (1.1.1.36)

17beta-estradiol 17-dehydrogenase (1.1.1.62)

Gene Summary

scully (scu) encodes a mitochondrial protein that is part of a three protein complex responsible for cleaving the 5'-end of mitochondrial tRNAs. scu product forms a sub-complex with the protein encoded by rswl. This sub-complex binds the tRNA and recruits the metallonuclease encoded by mldr, which is responsible for cleaving the phosphodiester backbone of the RNA. Loss of scu results in lethality and aberrantly processed mtDNA transcripts. [Date last reviewed: 2018-10-04] (FlyBase Gene Snapshot)

All Summaries

Gene Snapshot
Alliance
Auto summary
Gene Group
UniProtKB
Red Book
Interactive Fly

Also Known As

HL-X, MRPP2

Key Links

Genomic Location

Cytogenetic map

16F6-16F6

Sequence location

X:18,091,259..18,092,853 [+]

Recombination map

1-59

RefSeq locus

NC_004354 REGION:18091259..18092853

Sequence

Get Decorated FASTA

Genomic Maps

JBrowse

Other Genome Views

The following external sites may use different assemblies or annotations than FlyBase.

Function

Gene Ontology (GO) Annotations (15 terms)

Molecular Function (6 terms)

Terms Based on Experimental Evidence (5 terms)

CV Term

Evidence

References

enables 7-beta-hydroxysteroid dehydrogenase (NADP+) activity

inferred from direct assay

(Shafqat et al., 2003)

enables acetoacetyl-CoA reductase activity

inferred from direct assay

(Shafqat et al., 2003)

enables estradiol 17-beta-dehydrogenase [NAD(P)+] activity

inferred from direct assay

(Shafqat et al., 2003)

enables steroid dehydrogenase activity

inferred from direct assay

(Shafqat et al., 2003)

enables testosterone dehydrogenase (NAD+) activity

inferred from direct assay

(Shafqat et al., 2003)

Terms Based on Predictions or Assertions (2 terms)

CV Term

Evidence

References

enables estradiol 17-beta-dehydrogenase [NAD(P)+] activity

inferred from biological aspect of ancestor with PANTHER:PTN001213039

(GO Reference Genome Project, 2011-)

enables oxidoreductase activity

inferred from electronic annotation with InterPro:IPR020904

(InterPro Project Members, 2004-)

Biological Process (7 terms)

Terms Based on Experimental Evidence (7 terms)

CV Term

Evidence

References

involved_in acyl-CoA metabolic process

inferred from direct assay

(Shafqat et al., 2003)

involved_in androgen metabolic process

inferred from direct assay

(Shafqat et al., 2003)

involved_in ecdysone metabolic process

inferred from direct assay

(Shafqat et al., 2003)

involved_in estrogen metabolic process

inferred from direct assay

(Shafqat et al., 2003)

involved_in fatty acid metabolic process

inferred from direct assay

(Shafqat et al., 2003)

involved_in mitochondrial tRNA processing

inferred from mutant phenotype

(Sen et al., 2016)

involved_in steroid metabolic process

inferred from direct assay

(Shafqat et al., 2003)

Terms Based on Predictions or Assertions (3 terms)

CV Term

Evidence

References

involved_in androgen metabolic process

inferred from biological aspect of ancestor with PANTHER:PTN001213039

(GO Reference Genome Project, 2011-)

involved_in estrogen metabolic process

inferred from biological aspect of ancestor with PANTHER:PTN001213039

(GO Reference Genome Project, 2011-)

involved_in fatty acid metabolic process

inferred from biological aspect of ancestor with PANTHER:PTN001213039

(GO Reference Genome Project, 2011-)

Cellular Component (2 terms)

Terms Based on Experimental Evidence (2 terms)

CV Term

Evidence

References

part_of mitochondrial ribonuclease P complex

inferred from direct assay

(Sen et al., 2016)

located_in mitochondrion

inferred from direct assay

(Saoji et al., 2021)

inferred from direct assay

(Sen et al., 2016)

inferred from high throughput direct assay

(Tan et al., 2009)

Terms Based on Predictions or Assertions (1 term)

CV Term

Evidence

References

is_active_in mitochondrion

inferred from biological aspect of ancestor with PANTHER:PTN001213039

(GO Reference Genome Project, 2011-)

located_in mitochondrion

inferred from sequence or structural similarity with UniProtKB:O08756

(Gene Ontology Curators, 2002-)

Gene Group (FlyBase)

CH-OH STEROID DEHYDROGENASES

MITOCHONDRIAL RNASE P COMPLEX

Protein Family (UniProt)

Belongs to the short-chain dehydrogenases/reductases (SDR) family. (O18404)

Protein Signatures (InterPro)

Catalytic Activity (EC/Rhea)

estradiol 17-beta-dehydrogenase [NAD(P)+] activity

(1) 17beta-estradiol + NAD(+) = estrone + NADH + H(+) (1.1.1.62)

(2) 17beta-estradiol + NADP(+) = estrone + NADPH + H(+) (1.1.1.62)

7-beta-hydroxysteroid dehydrogenase (NADP+) activity

a 7beta-hydroxysteroid + NADP(+) = a 7-oxosteroid + NADPH + H(+) (1.1.1.201)

RHEA 20233: testosterone dehydrogenase (NAD+) activity

testosterone + NAD(+) = androst-4-ene-3,17-dione + NADH + H(+) (1.1.1.239)

RHEA 14929: acetoacetyl-CoA reductase activity

a (3R)-3-hydroxyacyl-CoA + NADP(+) = a 3-oxoacyl-CoA + NADPH + H(+) (1.1.1.36)

RHEA 22256:

Summaries

Gene Snapshot

Gene Group (FlyBase)

CH-OH STEROID DEHYDROGENASES -: Steroid dehydrogenases are NAD or NADP dependent oxidoreductases with steroid as a substrate. Most members of the family contain the tyrosine and lysine of the catalytic triad in a YxxxK sequence. (Adapted from PMID:10668397).
MITOCHONDRIAL RNASE P COMPLEX -: Mitochondrial ribonuclease P is a eukaryotic-specific, protein-only enzyme that catalyzes 5' end maturation of mitochondrial precursor transfer RNAs. It comprises 3 subunits (none of which are homologous to the RNA-based RNase P proteins): a tRNA methyltransferase, a short-chain dehydrogenase/reductase, and a metallonuclease, which houses the RNase P active site. (Adapted from PMID:27187488.)

Protein Function (UniProtKB)

Mitochondrial dehydrogenase involved in pathways of fatty acid, and steroid metabolism (PubMed:12917011). Versatile enzyme presenting two types of activity; L-3-hydroxyacyl-CoA dehydrogenase ((3S)-3-hydroxyacyl-CoA dehydrogenase) activity and hydroxysteroid dehydrogenase (HSD) activity with a wide substrate spectrum. As a (3S)-3-hydroxyacyl-CoA dehydrogenase, it functions in the third step of the fatty acid beta-oxidation pathway, a major metabolic process in which fatty acids are oxidized to provide a significant source of energy, while also generating acyl-CoA metabolites used by many metabolic routes (Probable) (PubMed:12917011). As a HSD, it functions in the degradation pathways of glucocorticoids and sex steroids and epimerization of bile acids; catalyzes the beta-oxidation at position 17 of androgens and estrogens, has 3-alpha-hydroxysteroid dehydrogenase activity with androsterone, and carries out oxidative conversions of 7-beta-hydroxylated bile acids like ursodeoxycholate or isoursodeoxycholate (also known as 3-beta,7-beta-dihydroxy-5-beta-cholan-24-oate or 7-beta-hydroxyisolithocholate, respectively). Also exhibits 20-beta-OH and 21-OH dehydrogenase activities with C21 steroids (PubMed:12917011). Essential for structural and functional integrity of mitochondria (PubMed:27131785, PubMed:34199774, PubMed:35663400). Required for cell survival during embryonic development (PubMed:9585418). May play a role in germline formation (PubMed:12917011, PubMed:9585418). In addition to mitochondrial dehydrogenase activity, moonlights as a component of mitochondrial ribonuclease P, a complex that cleaves tRNA molecules in their 5'-ends (PubMed:27131785, PubMed:34199774, PubMed:35663400). Essential for the structural and functional integrity of mitochondria (PubMed:27131785, PubMed:34199774, PubMed:35663400). Function is essential for pupal development (PubMed:27131785, PubMed:34199774).

(UniProt, O18404)

Phenotypic Description (Red Book; Lindsley and Zimm 1992)

l(1)16Fd

Major lethal phase in early pupae. Somatic mosaics in the adult hypoderm show fewer and smaller bristles and smooth ommatidia. Lethal in germ-line mosaics.

Gene Model and Products

Number of Transcripts

Number of Unique Polypeptides

Please see the JBrowse view of Dmel\scu for information on other features

To submit a correction to a gene model please use the Contact FlyBase form

Protein Domains (via Pfam)

Isoform displayed:

Pfam protein domains

InterPro name

classification

start

end

Protein Domains (via SMART)

Isoform displayed:

SMART protein domains

InterPro name

classification

start

end

Structure

Protein 3D structure (Predicted by AlphaFold) (AlphaFold entry O18404)

If you don't see a structure in the viewer, refresh your browser.

Model Confidence:

Very high (pLDDT > 90)
Confident (90 > pLDDT > 70)
Low (70 > pLDDT > 50)
Very low (pLDDT < 50)

AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Some regions with low pLDDT may be unstructured in isolation.

Experimentally Determined Structures

Crossreferences

Comments on Gene Model

Gene model reviewed during 5.55

Gene model reviewed during 5.39

Gene model reviewed during 5.53

Transcript Data

Annotated Transcripts

Name

FlyBase ID

RefSeq ID

Length (nt)

Assoc. CDS (aa)

scu-RA

FBtr0074511

NM_078672

1034

255

scu-RB

FBtr0308351

NM_001258800

1134

126

Additional Transcript Data and Comments

Reported size (kB)

1.0 (northern blot)

(Torroja et al., 1998)

Comments

External Data

Crossreferences

Polypeptide Data

Annotated Polypeptides

Name

FlyBase ID

Predicted MW (kDa)

Length (aa)

Theoretical pI

UniProt

RefSeq ID

GenBank

scu-PA

FBpp0074285

26.9

255

9.52

FBpp0300670

13.4

126

7.36

D5A7S2

NP_001245729

AFH07442

Polypeptides with Identical Sequences

None of the polypeptides share 100% sequence identity.

Additional Polypeptide Data and Comments

Reported size (kDa)

255 (aa); 27 (kD predicted)

(Torroja et al., 1998)

Comments

External Data

Subunit Structure (UniProtKB)

Component of mitochondrial ribonuclease P, a complex composed of rswl/MRPP1, scu/MRPP2 and mldr/MRPP3.

(UniProt, O18404)

Crossreferences

InterPro - A database of protein families, domains and functional sites

Linkouts

Sequences Consistent with the Gene Model

Nucleotide / Polypeptide Records

UniProt

O18404

Mapped Features

Click to get a list of regulatory features (enhancers, TFBS, etc.) and gene disruptions (point mutations, indels, etc.) within or overlapping Dmel\scu using the Feature Mapper tool.

External Data

Crossreferences

Linkouts

Expression Data

Testis-specificity index

The testis specificity index was calculated from modENCODE tissue expression data by Vedelek et al., 2018 to indicate the degree of testis enrichment compared to other tissues. Scores range from -2.52 (underrepresented) to 5.2 (very high testis bias).

-0.83

Transcript Expression

in situ

Stage

Tissue/Position (including subcellular localization)

Reference

embryonic stage 1 -- 3

organism

Comment: maternally deposited

(Fisher et al., 2012)

embryonic stage 4 -- 6

organism | ubiquitous

(Fisher et al., 2012)

embryonic stage 7 -- 8

primordial germ cell

(Fisher et al., 2012)

embryonic stage 11 -- 12

germline cell

(Fisher et al., 2012)

embryonic stage 13 -- 16

embryonic midgut chamber

(Fisher et al., 2012)

embryonic/larval midgut

(Fisher et al., 2012)

germline cell

(Fisher et al., 2012)

late embryonic stage

gonad | precursor

(Torroja et al., 1998)

northern blot

Stage

Tissue/Position (including subcellular localization)

Reference

embryonic stage

(Torroja et al., 1998)

larval stage

gonad

(Torroja et al., 1998)

third instar larval stage

epithelial cell of midgut

(Torroja et al., 1998)

larval central nervous system

(Torroja et al., 1998)

embryonic/larval salivary gland

(Torroja et al., 1998)

imaginal disc

(Torroja et al., 1998)

Malpighian tubule

(Torroja et al., 1998)

adult stage | female

(Torroja et al., 1998)

adult stage | male

(Torroja et al., 1998)

RT-PCR

Stage

Tissue/Position (including subcellular localization)

Reference

third instar larval stage

embryonic/larval lymph gland

(Tiwari et al., 2020)

Additional Descriptive Data

Transcripts were detected in the late third instar lymph gland.

(Tiwari et al., 2020)

scu transcripts are detected in all stages tested (embryos and adult males and females). In late embryos, strong expression is observed in the gonadal primordia and the expression persists through the larval stages. Larval expression is also observed in the imaginal discs, CNS, and salivary glands. Weaker expression is observed in gut epithelial cells and in Malpighian tubules. In adults, high transcript levels were observed in ovaries within the nurse cells and in testes.

(Torroja et al., 1998)

Marker for

Subcellular Localization

CV Term

Polypeptide Expression

mass spectroscopy

Stage

Tissue/Position (including subcellular localization)

Reference

adult stage

adult head

• membrane

(Aradska et al., 2015)

day 7 of adulthood -- day 49 of adulthood

adult heart

(Cammarato et al., 2011)

Additional Descriptive Data

Marker for

Subcellular Localization

CV Term

Evidence

References

part_of mitochondrial ribonuclease P complex

inferred from direct assay

(Sen et al., 2016)

located_in mitochondrion

inferred from direct assay

(Saoji et al., 2021)

inferred from direct assay

(Sen et al., 2016)

inferred from high throughput direct assay

(Tan et al., 2009)

Expression Deduced from Reporters

High-Throughput Expression Data

Associated Tools

JBrowse - Visual display of RNA-Seq signals

View Dmel\scu in JBrowse

RNA-Seq by Region - Search RNA-Seq expression levels by exon or genomic region

View exonic expression by developmental stage for Dmel\scu

View exonic expression by tissue for Dmel\scu

Bulk Downloads

RNA-Seq RPKM values for all genes

Reference

See Gelbart and Emmert, 2013 for analysis details and data files for all genes.

Developmental Proteome: Life Cycle

Developmental Proteome: Embryogenesis

External Data and Images

Linkouts

BDGP expression data - Patterns of gene expression in Drosophila embryogenesis

FBgn0021765

DRscDB - A single-cell RNA-seq resource for data mining and data comparison across species

32789/tissue=All

EMBL-EBI Single Cell Expression Atlas - Single cell expression across species

FBgn0021765

FlyAtlas - Adult expression by tissue, using Affymetrix Dros2 array

FBgn0021765

FlyAtlas2 - A Drosophila melanogaster expression atlas with RNA-Seq, miRNA-Seq and sex-specific data

FBgn0021765

Fly-FISH - A database of Drosophila embryo and larvae mRNA localization patterns

CG7113

Flygut - An atlas of the Drosophila adult midgut

FBgn0021765

Images

FlyBase Wiki

Image Based Resources

Alleles, Insertions, Transgenic Constructs, and Aberrations

Classical and Insertion Alleles ( 16 )

For All Classical and Insertion Alleles Show

Other relevant insertions

Transgenic Constructs ( 13 )

For All Alleles Carried on Transgenic Constructs Show

Transgenic constructs containing/affecting coding region of scu

Transgenic constructs containing regulatory region of scu

Aberrations (Deficiencies and Duplications) ( 3 )

Inferred from experimentation ( 3 )

Gene not duplicated in

Df(1)Taf8⁸⁸

(Hernandez-Hernandez and Ferrus, 2001)

Gene duplicated in

Dp(1;3)DC341

(Schulze and Bellen, 2016.11.29, Popodi et al., 2010-, Venken et al., 2010)

Dp(1;3)JC153

(de la Pompa, 1994)

Inferred from location ( 8 )

Variants

Variant Molecular Consequences

Alleles Representing Disease-Implicated Variants

Phenotypes

For more details about a specific phenotype click on the relevant allele symbol.

Lethality

Allele

lethal

scu^A

lethal | recessive

lethal - all die before end of P-stage

lethal - all die before end of P-stage, with Scer\GAL4^Act5C.PI

scu^HMS02305

lethal - all die before end of P-stage, with Scer\GAL4^αTub84B.PL

lethal - all die before end of P-stage | recessive

lethal - all die before end of pupal stage | recessive

scu¹⁷⁴

partially lethal - majority die, with Scer\GAL4^Act5C.PI

scu^GL01079

viable

scu^f05851

viable, with Dcr-2^UAS.cDa, Scer\GAL4^elav.PLu

scu^GD1528

viable, with Scer\GAL4^Mef2.PR

scu^GD1528

viable, with Scer\GAL4^pnr-MD237

scu^GD1528

viable, with Scer\GAL4^tin.CΔ4

scu^GD1528

Sterility

Allele

fertile

scu^f05851

Other Phenotypes

Allele

abnormal developmental rate

abnormal neurophysiology | germline clone

scu¹⁷⁴

some die during embryonic stage

some die during pupal stage

some die during pupal stage | recessive

scu¹⁷⁴

wild-type

scu^+t2.4

Phenotype manifest in

Allele

eye photoreceptor cell & mitochondrion | somatic clone

scu³¹²⁷

eye photoreceptor cell | somatic clone

scu³¹²⁷

female germline stem cell | germline clone

scu¹⁷⁴

larval brain | larval stage

larval neuroblast

mitochondrion | larval stage

neuroblast | larval stage

ommatidium | somatic clone

scu³¹²⁷

pupal spiracle

rhabdomere | somatic clone

scu³¹²⁷

spermatocyte

spermatocyte & mitochondrion

spermatocyte & nucleolus

scu³¹²⁷

testis

Orthologs

Downloads

Download All DIOPT Orthologs

Human Orthologs (via DIOPT v9.1)

Species\Gene Symbol

Score

Best Score

Best Reverse Score

Source

Alignment

Complementation?

Transgene?

Homo sapiens (Human) (39)

Hsap\HSD17B10

14 of 14

Yes

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

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1 of 14

1 of 14

1 of 14

1 of 14

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1 of 14

1 of 14

Model Organism Orthologs (via DIOPT v9.1)

Species\Gene Symbol

Score

Best Score

Best Reverse Score

Source

Alignment

Complementation?

Transgene?

Rattus norvegicus (Norway rat) (23)

Rnor\Hsd17b10

14 of 14

Yes

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

Mus musculus (laboratory mouse) (20)

Mmus\Hsd17b10

13 of 14

Yes

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

Xenopus tropicalis (Western clawed frog) (28)

Xtro\hsd17b10

2 of 13

Yes

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

Yes

Xtro\XB1000829

1 of 13

Xtro\XB5863530

1 of 13

Danio rerio (Zebrafish) (34)

Drer\hsd17b10

14 of 14

Yes

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

Drer\si:ch211-107o10.3

1 of 14

Drer\si:dkey-23o4.6

1 of 14

Drer\si:dkey-174n20.1

1 of 14

Drer\si:dkey-221h15.4

1 of 14

Drer\si:dkey-238o13.4

1 of 14

Yes

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

Caenorhabditis elegans (Nematode, roundworm) (50)

Cele\ard-1

14 of 14

Yes

2 of 14

2 of 14

2 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

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1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

Anopheles gambiae (African malaria mosquito) (39)

Agam\AgaP_AGAP003414

11 of 12

Yes

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

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1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

Arabidopsis thaliana (thale-cress) (67)

Atha\AT3G26760

6 of 13

Yes

Atha\AT3G26770

6 of 13

Yes

Atha\AT4G03140

6 of 13

Yes

3 of 13

3 of 13

3 of 13

3 of 13

2 of 13

2 of 13

2 of 13

2 of 13

2 of 13

2 of 13

1 of 13

1 of 13

1 of 13

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1 of 13

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1 of 13

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1 of 13

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1 of 13

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1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

Saccharomyces cerevisiae (Brewer's yeast) (10)

Scer\ENV9

1 of 13

Yes

Scer\FOX2

1 of 13

Yes

Scer\IFA38

1 of 13

Yes

Scer\IRC24

1 of 13

Yes

Scer\NRE1

1 of 13

Yes

Scer\SPS19

1 of 13

Yes

Scer\TDA5

1 of 13

Yes

Scer\YDL114W

1 of 13

Yes

Scer\YKL107W

1 of 13

Yes

Scer\YMR226C

1 of 13

Yes

Schizosaccharomyces pombe (Fission yeast) (9)

Spom\SPAC22A12.17c

2 of 12

Yes

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

Escherichia coli (enterobacterium) (10)

Ecol\fabG

1 of 11

Yes

Ecol\hdhA

1 of 11

Yes

Ecol\idnO

1 of 11

Yes

Ecol\kduD

1 of 11

Yes

Ecol\srlD

1 of 11

Yes

Ecol\ucpA

1 of 11

Yes

Ecol\ydfG

1 of 11

Yes

Ecol\ygcW

1 of 11

Yes

Ecol\ygfF

1 of 11

Yes

Ecol\yohF

1 of 11

Yes

Other Organism Orthologs (via OrthoDB)

Data provided directly from OrthoDB:scu. Refer to their site for version information.

Paralogs

Downloads

Download All DIOPT Paralogs

Paralogs (via DIOPT v9.1)

Gene Symbol

Score

Source

Alignment

Drosophila melanogaster (Fruit fly) (48)

2 of 13

2 of 13

2 of 13

2 of 13

2 of 13

2 of 13

2 of 13

2 of 13

2 of 13

2 of 13

2 of 13

2 of 13

2 of 13

2 of 13

2 of 13

2 of 13

2 of 13

2 of 13

2 of 13

Adh

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

naz

1 of 13

Pdh

1 of 13

rdhB

1 of 13

Sptr

1 of 13

sro

1 of 13

Human Disease Associations

FlyBase Human Disease Model Reports

HSD10 mitochondrial disease

Disease Ontology (DO) Annotations

Models Based on Experimental Evidence ( 2 )

Allele

Disease

Evidence

References

scu^GL01079

model of syndromic X-linked intellectual disability type 10

CEC

(Saoji et al., 2022)

scu^HMS02305

model of syndromic X-linked intellectual disability type 10

CEC

(Saoji et al., 2022)

Potential Models Based on Orthology ( 1 )

Human Ortholog

Disease

Evidence

References

HSD17B10; hydroxysteroid 17-beta dehydrogenase 10

model of syndromic X-linked intellectual disability type 10

IEA

(FlyBase, 2019-)

Modifiers Based on Experimental Evidence ( 1 )

Allele

Disease

Interaction

References

scu^GD1528

ameliorates tauopathy

modeled by Hsap\MAPT^R406W.UAS

(Shafik et al., 2022)

Disease Associations of Human Orthologs (via DIOPT v9.1 and OMIM)

Note that ortholog calls supported by only 1 or 2 algorithms (DIOPT score < 3) are not shown.

Homo sapiens (Human)

Gene name

Score

OMIM

OMIM Phenotype

DO term

Complementation?

Transgene?

HSD17B10; hydroxysteroid 17-beta dehydrogenase 10

14 of 14

300256

HSD10 MITOCHONDRIAL DISEASE; HSD10MD

syndromic X-linked intellectual disability type 10

Functional Complementation Data

Functional complementation data is computed by FlyBase using a combination of the orthology data obtained from DIOPT and OrthoDB and the allele-level genetic interaction data curated from the literature.

Interactions

Summary of Physical Interactions

Interaction Browsers

View in FlyBase Interactions Browser View in MIST tool (external link)

Please see the Physical Interaction reports below for full details

protein-protein

Physical Interaction

Assay

References

scu - Acaa

experimental knowledge based

(Guruharsha et al., 2011)

scu - Akap200

experimental knowledge based

(Guruharsha et al., 2011)

scu - Aldo

experimental knowledge based

(Guruharsha et al., 2011)

scu - AnxB10

experimental knowledge based

(Guruharsha et al., 2011)

scu - Ar1

experimental knowledge based

(Guruharsha et al., 2011)

scu - Ar2

experimental knowledge based

(Guruharsha et al., 2011)

scu - Bacc

experimental knowledge based

(Guruharsha et al., 2011)

scu - CG11267

experimental knowledge based

(Guruharsha et al., 2011)

scu - CG14715

experimental knowledge based

(Guruharsha et al., 2011)

scu - CG2852

experimental knowledge based

(Guruharsha et al., 2011)

scu - CG5174

experimental knowledge based

(Guruharsha et al., 2011)

scu - CG5355

experimental knowledge based

(Guruharsha et al., 2011)

scu - Calr

experimental knowledge based

(Guruharsha et al., 2011)

scu - Chd64

experimental knowledge based

(Guruharsha et al., 2011)

scu - Cndp2

experimental knowledge based

(Guruharsha et al., 2011)

scu - Cog3

experimental knowledge based

(Guruharsha et al., 2011)

scu - Df31

experimental knowledge based

(Guruharsha et al., 2011)

scu - Eb1

experimental knowledge based

(Guruharsha et al., 2011)

scu - EndoGI

experimental knowledge based

(Guruharsha et al., 2011)

scu - Eno

experimental knowledge based

(Guruharsha et al., 2011)

scu - Fim

experimental knowledge based

(Guruharsha et al., 2011)

scu - Fkbp12

experimental knowledge based

(Guruharsha et al., 2011)

scu - Fkbp14

experimental knowledge based

(Guruharsha et al., 2011)

scu - GstE6

experimental knowledge based

(Guruharsha et al., 2011)

scu - GstO3

experimental knowledge based

(Guruharsha et al., 2011)

scu - GstT1

experimental knowledge based

(Guruharsha et al., 2011)

scu - Gtpx

experimental knowledge based

(Guruharsha et al., 2011)

scu - HINT1

experimental knowledge based

(Guruharsha et al., 2011)

scu - Inos

experimental knowledge based

(Guruharsha et al., 2011)

scu - Mdh2

experimental knowledge based

(Guruharsha et al., 2011)

scu - Moe

experimental knowledge based

(Guruharsha et al., 2011)

scu - Nacα

experimental knowledge based

(Guruharsha et al., 2011)

scu - Nlp

experimental knowledge based

(Guruharsha et al., 2011)

scu - Ntf-2

experimental knowledge based

(Guruharsha et al., 2011)

scu - PCNA

experimental knowledge based

(Guruharsha et al., 2011)

scu - Pdi

experimental knowledge based

(Guruharsha et al., 2011)

scu - Pgam1

experimental knowledge based

(Guruharsha et al., 2011)

scu - Pgk

experimental knowledge based

(Guruharsha et al., 2011)

scu - Prosβ5

experimental knowledge based

(Guruharsha et al., 2011)

scu - Prx6c

experimental knowledge based

(Guruharsha et al., 2011)

scu - Rab11

experimental knowledge based

(Guruharsha et al., 2011)

scu - RhoGDI

experimental knowledge based

(Guruharsha et al., 2011)

scu - Sh3β

experimental knowledge based

(Guruharsha et al., 2011)

scu - Stip1

experimental knowledge based

(Guruharsha et al., 2011)

scu - Sumo

experimental knowledge based

(Guruharsha et al., 2011)

scu - Tkt

experimental knowledge based

(Guruharsha et al., 2011)

scu - Trx2

experimental knowledge based

(Guruharsha et al., 2011)

scu - Uch

experimental knowledge based

(Guruharsha et al., 2011)

scu - awd

experimental knowledge based

(Guruharsha et al., 2011)

scu - capt

experimental knowledge based

(Guruharsha et al., 2011)

scu - chic

experimental knowledge based

(Guruharsha et al., 2011)

scu - cib

experimental knowledge based

(Guruharsha et al., 2011)

scu - eEF5

experimental knowledge based

(Guruharsha et al., 2011)

scu - fabp

experimental knowledge based

(Guruharsha et al., 2011)

scu - loqs

experimental knowledge based

(Guruharsha et al., 2011)

scu - mldr

anti tag coimmunoprecipitation, anti tag western blot

(Sen et al., 2016)

scu - regucalcin

experimental knowledge based

(Guruharsha et al., 2011)

scu - rswl

anti tag coimmunoprecipitation, anti tag western blot

(Sen et al., 2016)

RNA-protein

Physical Interaction

Assay

References

scu - PQBP1

anti bait coimmunoprecipitation, primer specific pcr

(Wan et al., 2015)

Summary of Genetic Interactions

Interaction Browsers

Starting gene(s)

Interaction type

Interacting gene(s)

Reference

Starting gene(s)

Interaction type

Interacting gene(s)

Reference

External Data

Subunit Structure (UniProtKB)

Component of mitochondrial ribonuclease P, a complex composed of rswl/MRPP1, scu/MRPP2 and mldr/MRPP3.

(UniProt, O18404 )

Linkouts

BioGRID - A database of protein and genetic interactions.

59109

DroID - A comprehensive database of gene and protein interactions.

FBgn0021765

MIST (protein-protein) - An integrated Molecular Interaction Database

32789

Pathways

Signaling Pathways (FlyBase)

Metabolic Pathways

FlyBase

External Links

FlyCyc Pathways - Pathways from a BioCyc PGDB for Dmel

KEGG Metabolic Pathways - A collection of manually drawn metabolic pathway maps representing knowledge of molecular interaction, reaction and relation networks.

Reactome Metabolic Pathways - An open-source, open access, manually curated and peer-reviewed metabolic pathway database.

Branched-chain amino acid catabolism

External Data

Linkouts

KEGG Pathways - A collection of manually drawn pathway maps representing knowledge of molecular interaction, reaction and relation networks.

Reactome - An open-source, open access, manually curated and peer-reviewed pathway database.

Class of Gene

nuclear_gene

protein_coding_gene

Genomic Location and Detailed Mapping Data

Chromosome (arm)

Recombination map

1-59

Cytogenetic map

16F6-16F6

Sequence location

X:18,091,259..18,092,853 [+]

FlyBase Computed Cytological Location

Cytogenetic map

Evidence for location

16F6-16F6

Limits computationally determined from genome sequence between P{EP}EP970 and P{EP}ari-1^EP317

Experimentally Determined Cytological Location

Cytogenetic map

Notes

References

16E-17A

(Ortuno-Sahagun, 1997.10.13)

Experimentally Determined Recombination Data

Location

1-59

(FlyBase, 2016)

1-58.9

(Comeron et al., 2012)

Left of (cM)

wupA

(Torroja et al., 1998)

Right of (cM)

(Torroja et al., 1998)

Notes

Mapped by recombination and segmental aneuploidy to the interval between Sh and wupA.

(Torroja et al., 1998)

Stocks and Reagents

Stocks (16)

Aberrations including deletions of this gene Aberrations including duplications of this gene

Bloomington

18910

w¹¹¹⁸ PBac{WH}scu^f05851

85526

w¹¹¹⁸ PBac{RB}scu^e00459

8439

P{UAS-scu.Exel}1, y¹ w¹¹¹⁸

8532

y¹ w¹¹¹⁸; P{GMR-scu.Exel}2

41884

y¹ v¹; P{TRiP.HMS02305}attP40

8438

y¹ w¹¹¹⁸; P{UAS-scu.Exel}2/CyO

42476

y¹ sc^* v¹ sev²¹; P{TRiP.GL01079}attP2

NIG-Fly

7113R-1

P{NIG.7113R}1

HMS02305

y¹ v¹; P{TRiP.HMS02305}attP40

VDRC

v110802

P{KK108042}VIE-260B

v37083

w¹¹¹⁸; P{GD1528}v37083

v318761

PBac{fTRG01124.sfGFP-TVPTBF}VK00002

More stocks available...

Genomic Clones (10)

Please Note FlyBase no longer curates genomic clone accessions so this list may not be complete

cDNA Clones (116)

Please Note This section lists cDNAs and ESTs that fall within the genomic extent of the gene model, which may include cDNAs and ESTs of genes within introns, or of overlapping genes. Please see JBrowse for alignment of the cDNAs and ESTs to the gene model.

cDNA clones, fully sequenced

BDGP DGC clones

Other clones

MIP20743

Drosophila Genomics Resource Center cDNA clones

For each fully sequenced cDNA the DGRC maintains various forms of the cDNA (e.g tagged or untagged) in several different host vectors for subsequent cloning and expression in Drosophila and Drosophila cell lines.

FBgn0021765

cDNA Clones, End Sequenced (ESTs)

BDGP DGC clones

RNAi and Array Information

Linkouts

DRSC - Results frm RNAi screens

FBgn0021765

Antibody Information

Laboratory Generated Antibodies

polyclonal

(Saoji et al., 2021)

Commercially Available Antibodies

Cell Line Information

Publicly Available Cell Lines

Other Stable Cell Lines

Other Comments

Candidate gene for cyst presence/absence quantitative trait locus.

(Macdonald and Goldstein, 1999)

Analysis of scu mutants suggests a role for scu in germline formation.

(Torroja et al., 1998)

Mutation analysis of scu suggests scu is required for nervous system development and required in mature neurons.

(de la Pompa, 1994)

Relationship to Other Genes

Source for database merge of

Additional comments

Nomenclature History

Source for database identify of

Nomenclature comments

Etymology

Synonyms and Secondary IDs (16)

Reported As

Symbol Synonym

17β-HSD10

(Shafqat et al., 2003)

CG7113

(Çiçek et al., 2016, Hosono et al., 2015, Meadows, 2014.12.12, Cammarato et al., 2011, Ni et al., 2010.12.1, Fujikawa et al., 2009, Hughes et al., 2008, Cermelli et al., 2006, Terhzaz et al., 2006, Bourbon et al., 2002)

HL-X

(Ferrus, 1999.3.4, Prado et al., 1999)

HLII

(de la Pompa, 1994)

HSD17B10

(Shafik et al., 2022)

MRPP2

(Saoji et al., 2022, Sen et al., 2016)

Scu

(Ceriani et al., 2002)

l(1)16Fd

l(1)17Ad

scully

(Gera et al., 2024)

Name Synonyms

17-β-hydroxysteroid dehydrogenase 10 ortholog

(Dilly et al., 2017)

3-hydroxyacyl-CoA dehydrogenase

(Sun et al., 2007)

Scully

(Sen et al., 2016, Wan et al., 2015, Tan et al., 2012)

haplo-lethal region II

(de la Pompa, 1994)

lethal(1)17Ad

scully

(Werner et al., 2022, Graves et al., 2020, Liu et al., 2018, Sen et al., 2016, Cammarato et al., 2011, Palanker et al., 2009, Cermelli et al., 2006, Terhzaz et al., 2006, Torroja et al., 1998)

Secondary FlyBase IDs

FBgn0001550

Datasets (0)

Study focus (0)

Experimental Role

Project

Project Type

Title

Study result (0)

Result

Result Type

Title

External Crossreferences and Linkouts ( 49 )

Sequence Crossreferences

NCBI Gene - Gene integrates information from a wide range of species. A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations, phenotypes, and links to genome-, phenotype-, and locus-specific resources worldwide.

32789

GenBank Nucleotide - A collection of sequences from several sources, including GenBank, RefSeq, TPA, and PDB.

GenBank Protein - A collection of sequences from several sources, including translations from annotated coding regions in GenBank, RefSeq and TPA, as well as records from SwissProt, PIR, PRF, and PDB.

RefSeq - A comprehensive, integrated, non-redundant, well-annotated set of reference sequences including genomic, transcript, and protein.

UniProt/GCRP - The gene-centric reference proteome (GCRP) provides a 1:1 mapping between genes and UniProt accessions in which a single 'canonical' isoform represents the product(s) of each protein-coding gene.

O18404

UniProt/Swiss-Prot - Manually annotated and reviewed records of protein sequence and functional information

O18404

Other crossreferences

AlphaFold DB - AlphaFold provides open access to protein structure predictions for the human proteome and other key proteins of interest, to accelerate scientific research.

O18404

BDGP expression data - Patterns of gene expression in Drosophila embryogenesis

FBgn0021765

DRscDB - A single-cell RNA-seq resource for data mining and data comparison across species

32789/tissue=All

EMBL-EBI Single Cell Expression Atlas - Single cell expression across species

FBgn0021765

FlyAtlas2 - A Drosophila melanogaster expression atlas with RNA-Seq, miRNA-Seq and sex-specific data

FBgn0021765

FlyMine - An integrated database for Drosophila genomics

FBgn0021765

InterPro - A database of protein families, domains and functional sites

KEGG Genes - Molecular building blocks of life in the genomic space.

dme:Dmel_CG7113

MARRVEL_MODEL - MARRVEL (model organism gene)

32789

Linkouts

BioGRID - A database of protein and genetic interactions.

59109

Drosophila Genomics Resource Center - Drosophila Genomics Resource Center (DGRC) cDNA clones

FBgn0021765

DroID - A comprehensive database of gene and protein interactions.

FBgn0021765

DRSC - Results frm RNAi screens

FBgn0021765

FlyAtlas - Adult expression by tissue, using Affymetrix Dros2 array

FBgn0021765

FlyCyc Genes - Genes from a BioCyc PGDB for Dmel

FBGN0021765

FlyCyc Pathways - Pathways from a BioCyc PGDB for Dmel

Fly-FISH - A database of Drosophila embryo and larvae mRNA localization patterns

CG7113

Flygut - An atlas of the Drosophila adult midgut

FBgn0021765

FlyMet - A comprehensive tissue-specific metabolomics resource for Drosophila.

FBgn0021765

iBeetle-Base - RNAi phenotypes in the red flour beetle (Tribolium castaneum)

TC003351

KEGG Metabolic Pathways - A collection of manually drawn metabolic pathway maps representing knowledge of molecular interaction, reaction and relation networks.

KEGG Pathways - A collection of manually drawn pathway maps representing knowledge of molecular interaction, reaction and relation networks.

MIST (protein-protein) - An integrated Molecular Interaction Database

32789

Reactome - An open-source, open access, manually curated and peer-reviewed pathway database.

Reactome Metabolic Pathways - An open-source, open access, manually curated and peer-reviewed metabolic pathway database.

Branched-chain amino acid catabolism

References (102)

The following external sites may use different assemblies or annotations than FlyBase.

-0.83

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