FlyBase Gene Report: Dmel\Asph

General Information

Symbol

Dmel\Asph

Species

D. melanogaster

Name

Aspartyl β-hydroxylase

Annotation Symbol

CG8421

Feature Type

protein_coding_gene

FlyBase ID

FBgn0034075

Gene Model Status

Current

Stock Availability

9 publicly available

Enzyme Name (EC)

peptide-aspartate beta-dioxygenase (1.14.11.16)

Gene Summary

Aspartyl β-hydroxylase (Asph) may be involved in peptidyl-amino acid modification based on orthology. It might be involved in neurogenesis since lack of Asph function enhances the expanded htt-fragment-induced eye phenotype. [Date last reviewed: 2019-03-07] (FlyBase Gene Snapshot)

All Summaries

Gene Snapshot
Alliance
Auto summary
Gene Group
Interactive Fly

Key Links

Genomic Location

Cytogenetic map

52E5-52E5

Sequence location

2R:16,110,331..16,116,996 [+]

Recombination map

2-77

RefSeq locus

NT_033778 REGION:16110331..16116996

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 (4 terms)

Molecular Function (1 term)

Terms Based on Experimental Evidence (0 terms)

Terms Based on Predictions or Assertions (1 term)

CV Term

Evidence

References

enables peptidyl-aspartic acid 3-dioxygenase activity

inferred from electronic annotation with InterPro:IPR039038

(InterPro Project Members, 2004-)

inferred from biological aspect of ancestor with PANTHER:PTN002644231

(GO Reference Genome Project, 2011-)

Biological Process (1 term)

Terms Based on Experimental Evidence (0 terms)

Terms Based on Predictions or Assertions (1 term)

CV Term

Evidence

References

involved_in regulation of cytosolic calcium ion concentration

inferred from biological aspect of ancestor with PANTHER:PTN002644231

(GO Reference Genome Project, 2011-)

Cellular Component (2 terms)

Terms Based on Experimental Evidence (1 term)

CV Term

Evidence

References

located_in endomembrane system

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 endoplasmic reticulum

inferred from biological aspect of ancestor with PANTHER:PTN002644231

(GO Reference Genome Project, 2011-)

Gene Group (FlyBase)

UNCLASSIFIED 2-OXOGLUTARATE-DEPENDENT DIOXYGENASES

Protein Family (UniProt)

Protein Signatures (InterPro)

Catalytic Activity (EC/Rhea)

peptidyl-aspartic acid 3-dioxygenase activity

L-aspartyl-[protein] + 2-oxoglutarate + O2 = 3-hydroxy-L-aspartyl- [protein] + succinate + CO2 (1.14.11.16)

RHEA 11508:

Summaries

Gene Snapshot

Gene Group (FlyBase)

UNCLASSIFIED 2-OXOGLUTARATE-DEPENDENT DIOXYGENASES -: This group comprises 2-oxoglutarate-dependent dioxygenases that do not classify under other groups in FlyBase.

Gene Model and Products

Number of Transcripts

Number of Unique Polypeptides

Please see the JBrowse view of Dmel\Asph 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 A0A0B4KFS5)

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 5.43

The existence of non-catalytic isoforms lacking the aspartyl-asparaginyl beta-hydrolase domain is conserved in mouse and humans, as described in FBrf0135209.

Low-frequency RNA-Seq exon junction(s) not annotated.

Gene model reviewed during 5.48

Transcript Data

Annotated Transcripts

Name

FlyBase ID

RefSeq ID

Length (nt)

Assoc. CDS (aa)

Asph-RA

FBtr0087220

NM_166140

2729

785

Asph-RB

FBtr0087219

NM_079033

3143

382

Asph-RG

FBtr0300575

NM_176185

3928

557

Asph-RH

FBtr0305090

NM_001259428

2783

803

Asph-RI

FBtr0305091

NM_001259429

3986

575

Asph-RJ

FBtr0305092

NM_001259430

3197

400

Asph-RK

FBtr0310447

NM_166141

3929

556

Asph-RL

FBtr0336734

NM_001274091

3518

991

Additional Transcript Data and Comments

Reported size (kB)

Comments

External Data

Crossreferences

Polypeptide Data

Annotated Polypeptides

Name

FlyBase ID

Predicted MW (kDa)

Length (aa)

Theoretical pI

UniProt

RefSeq ID

GenBank

Asph-PA

FBpp0086359

89.8

785

4.09

FBpp0086358

43.3

382

3.62

FBpp0289802

63.3

557

3.61

FBpp0293627

91.9

803

4.10

FBpp0293628

65.3

575

3.63

FBpp0293629

45.3

400

3.64

FBpp0302595

63.1

556

3.61

FBpp0307715

113.3

991

4.00

A0A0B4KFS5

NP_001261020

AGB93552

Polypeptides with Identical Sequences

None of the polypeptides share 100% sequence identity.

Additional Polypeptide Data and Comments

Reported size (kDa)

Comments

External Data

Crossreferences

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

Linkouts

Sequences Consistent with the Gene Model

Nucleotide / Polypeptide Records

UniProt

Mapped Features

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

External Data

Crossreferences

Eukaryotic Promoter Database - A collection of databases of experimentally validated promoters for selected model organisms.

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).

-0.45

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

head mesoderm anlage

(Fisher et al., 2012)

organism | faint | ubiquitous

(Fisher et al., 2012)

trunk mesoderm anlage

(Fisher et al., 2012)

embryonic stage 7 -- 8

head mesoderm

(Fisher et al., 2012)

organism | faint | ubiquitous

(Fisher et al., 2012)

trunk mesoderm

(Fisher et al., 2012)

embryonic stage 9 -- 10

head mesoderm

(Fisher et al., 2012)

organism | faint | ubiquitous

(Fisher et al., 2012)

trunk mesoderm

(Fisher et al., 2012)

embryonic stage 11 -- 12

head mesoderm

(Fisher et al., 2012)

organism | faint | ubiquitous

(Fisher et al., 2012)

somatic muscle primordium

(Fisher et al., 2012)

embryonic stage 13 -- 16

dorsal pharyngeal muscle cell

(Fisher et al., 2012)

larval somatic muscle cell

(Fisher et al., 2012)

organism | faint | ubiquitous

(Fisher et al., 2012)

Additional Descriptive Data

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

located_in endomembrane system

inferred from high throughput direct assay

(Tan et al., 2009)

Expression Deduced from Reporters

Reporter: P{PTT-GA}Asph^ZCL1605

Stage

Tissue/Position (including subcellular localization)

Reference

oogenesis & adult stage | female

follicle cell

• cytoplasm | faint

(Cooley et al., 2003.5)

nurse cell

• cytoplasm | faint

(Cooley et al., 2003.5)

Reporter: PBac{681.P.FSVS-1}Asph^CPTI001828

Stage

Tissue/Position (including subcellular localization)

Reference

adult stage

adult brain cell body rind

(Knowles-Barley, 2011.8.24)

High-Throughput Expression Data

Associated Tools

JBrowse - Visual display of RNA-Seq signals

View Dmel\Asph in JBrowse

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

View exonic expression by developmental stage for Dmel\Asph

View exonic expression by tissue for Dmel\Asph

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

FBgn0034075

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

36778/tissue=All

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

FBgn0034075

FlyAtlas - Adult expression by tissue, using Affymetrix Dros2 array

FBgn0034075

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

FBgn0034075

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

CG8421

Flygut - An atlas of the Drosophila adult midgut

FBgn0034075

Images

FlyBase Wiki

Image Based Resources

Alleles, Insertions, Transgenic Constructs, and Aberrations

Classical and Insertion Alleles ( 9 )

For All Classical and Insertion Alleles Show

Other relevant insertions

Transgenic Constructs ( 4 )

For All Alleles Carried on Transgenic Constructs Show

Transgenic constructs containing/affecting coding region of Asph

Transgenic constructs containing regulatory region of Asph

Aberrations (Deficiencies and Duplications) ( 0 )

Inferred from experimentation ( 0 )

Inferred from location ( 4 )

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

viable

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

Asph^GD4542

viable, with Scer\GAL4^tin.CΔ4

Asph^GD4542

Sterility

Allele

fertile

Phenotype manifest in

Allele

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) (8)

Hsap\ASPH

11 of 14

Yes

Hsap\ASPHD1

3 of 14

Yes

Hsap\ASPHD2

3 of 14

Yes

Hsap\DMP1

1 of 14

Yes

Hsap\IBSP

1 of 14

Yes

Hsap\LEO1

1 of 14

Hsap\MUCL3

1 of 14

Yes

Hsap\RP1

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) (7)

Rnor\Asph

10 of 14

Yes

Rnor\Asphd1

3 of 14

Yes

Rnor\Asphd2

2 of 14

Yes

Rnor\Dmp1

1 of 14

Yes

Rnor\Ibsp

1 of 14

Yes

Rnor\Leo1

1 of 14

Rnor\Rp1

1 of 14

Mus musculus (laboratory mouse) (7)

Mmus\Asph

11 of 14

Yes

Mmus\Asphd1

3 of 14

Yes

Mmus\Asphd2

3 of 14

Yes

Mmus\Dmp1

1 of 14

Yes

Mmus\Ibsp

1 of 14

Yes

Mmus\Leo1

1 of 14

Mmus\Rp1

1 of 14

Xenopus tropicalis (Western clawed frog) (4)

Xtro\asph

4 of 13

Yes

Xtro\asphd2

2 of 13

Yes

Xtro\evl

1 of 13

Xtro\mga

1 of 13

Danio rerio (Zebrafish) (6)

Drer\unm_hu7910

9 of 14

Yes

Drer\asphd1

3 of 14

Yes

Drer\asphd2

3 of 14

Yes

Drer\asph

3 of 14

Yes

Drer\gpatch3

1 of 14

Yes

Drer\leo1

1 of 14

Caenorhabditis elegans (Nematode, roundworm) (2)

Cele\K09A9.6

11 of 14

Yes

Cele\T24E12.10

1 of 14

Yes

Anopheles gambiae (African malaria mosquito) (7)

Agam\AgaP_AGAP005832

9 of 12

Yes

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

Arabidopsis thaliana (thale-cress) (5)

Atha\AT3G05900

1 of 13

Yes

Atha\AT3G56410

1 of 13

Yes

Atha\AT5G40450

1 of 13

Yes

Atha\G2484-1

1 of 13

Yes

Atha\SYD

1 of 13

Yes

Saccharomyces cerevisiae (Brewer's yeast) (2)

Scer\AIP5

1 of 13

Yes

Scer\CHS5

1 of 13

Yes

Schizosaccharomyces pombe (Fission yeast) (3)

Spom\pic1

1 of 12

Yes

Spom\sec16

1 of 12

Yes

Spom\SPAC1A6.07

1 of 12

Yes

Escherichia coli (enterobacterium) (0)

Other Organism Orthologs (via OrthoDB)

Data provided directly from OrthoDB:Asph. 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) (10)

CG1647

1 of 13

CG34417

1 of 13

Cp190

1 of 13

Dtg

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

tnc

1 of 13

zormin

1 of 13

Human Disease Associations

FlyBase Human Disease Model Reports

Disease Ontology (DO) Annotations

Models Based on Experimental Evidence ( 1 )

Allele

Disease

Evidence

References

Asph^GD4542

model of chromosome 16p11.2 deletion syndrome, 593-kb

CEA

(Iyer et al., 2018)

Potential Models Based on Orthology ( 0 )

Human Ortholog

Disease

Evidence

References

Modifiers Based on Experimental Evidence ( 2 )

Allele

Disease

Interaction

References

Asph^KG09881

exacerbates Huntington's disease

modeled by Hsap\HTT^{128Q.1-336.UAS}

(Kaltenbach et al., 2007)

Asph^ZCL1605

exacerbates Huntington's disease

modeled by Hsap\HTT^{128Q.1-336.UAS}

(Kaltenbach et al., 2007)

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?

ASPH; aspartate beta-hydroxylase

11 of 14

600582

TRABOULSI SYNDROME

ASPHD1; aspartate beta-hydroxylase domain containing 1

3 of 14

ASPHD2; aspartate beta-hydroxylase domain containing 2

3 of 14

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

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

Linkouts

BioGRID - A database of protein and genetic interactions.

62502

DroID - A comprehensive database of gene and protein interactions.

FBgn0034075

Pathways

Signaling Pathways (FlyBase)

Metabolic Pathways

FlyBase

External Links

External Data

Linkouts

Class of Gene

nuclear_gene

protein_coding_gene

Genomic Location and Detailed Mapping Data

Chromosome (arm)

Recombination map

2-77

Cytogenetic map

52E5-52E5

Sequence location

2R:16,110,331..16,116,996 [+]

FlyBase Computed Cytological Location

Cytogenetic map

Evidence for location

52E5-52E5

Limits computationally determined from genome sequence between P{PZ}l(2)05070⁰⁵⁰⁷⁰&P{EP}CG8414^EP525 and P{EP}spin^EP645&P{lacW}spin^k09905

Experimentally Determined Cytological Location

Cytogenetic map

Notes

References

Experimentally Determined Recombination Data

Location

2-77

(FlyBase, 2016)

2-80.7

(Comeron et al., 2012)

Left of (cM)

Right of (cM)

Notes

Stocks and Reagents

Stocks (9)

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

Bloomington

29278

w¹¹¹⁸; Mi{ET1}Asph^MB12115

6826

y¹ w¹¹¹⁸; P{PTT-GA}Asph^ZCL1605

80677

y¹ w^*; TI{CRIMIC.TG4.1}Asph^{CR00823-TG4.1}/SM6a

85875

y¹ sc^* v¹ sev²¹; P{TKO.GS04270}attP40

Kyoto

110795

y^* w^* P{PTT-GA}Asph^ZCL1605

115371

w¹¹¹⁸; PBac{681.P.FSVS-1}Asph^CPTI001828

NIG-Fly

2RG-0167

y² VhaAC39-1^cho-1 v¹; P{U6-Asph.NIG.sgRNA}attP40/CyO

VDRC

v52590

P{GD4542}v52590

v101484

P{KK109349}VIE-260B

Genomic Clones (22)

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

cDNA Clones (17)

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

MIP15930

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.

FBgn0034075

cDNA Clones, End Sequenced (ESTs)

BDGP DGC clones

Other clones

RNAi and Array Information

Linkouts

DRSC - Results frm RNAi screens

FBgn0034075

Antibody Information

Laboratory Generated Antibodies

Commercially Available Antibodies

Cell Line Information

Publicly Available Cell Lines

Other Stable Cell Lines

Other Comments

Relationship to Other Genes

Source for database merge of

Additional comments

Source for identity of Asph CG18658 CG8421 was sequence comparison ( date:001220 ).

(FlyBase, 1996-)

Nomenclature History

Source for database identify of

Source for identity of: Asph CG18658 CG8421

(FlyBase, 1996-)

Nomenclature comments

Etymology

Synonyms and Secondary IDs (6)

Reported As

Symbol Synonym

Name Synonyms

Aspartyl beta-hydroxylase

(Cammarato et al., 2011)

Aspartyl β-hydroxylase

(Kaltenbach et al., 2007, Dinchuk et al., 2000)

Secondary FlyBase IDs

FBgn0034074

Datasets (0)

Study focus (0)

Experimental Role

Project

Project Type

Title

Study result (0)

Result

Result Type

Title

External Crossreferences and Linkouts ( 76 )

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.

36778

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.

A0A0B4KFS5

UniProt/TrEMBL - Automatically annotated and unreviewed records of protein sequence and functional information

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.

A0A0B4KFS5

BDGP expression data - Patterns of gene expression in Drosophila embryogenesis

FBgn0034075

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

36778/tissue=All

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

FBgn0034075

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

FBgn0034075

FlyMine - An integrated database for Drosophila genomics

FBgn0034075

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

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

dme:Dmel_CG8421

MARRVEL_MODEL - MARRVEL (model organism gene)

36778

Linkouts

BioGRID - A database of protein and genetic interactions.

62502

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

FBgn0034075

DroID - A comprehensive database of gene and protein interactions.

FBgn0034075

DRSC - Results frm RNAi screens

FBgn0034075

Eukaryotic Promoter Database - A collection of databases of experimentally validated promoters for selected model organisms.

FlyAtlas - Adult expression by tissue, using Affymetrix Dros2 array

FBgn0034075

FlyCyc Genes - Genes from a BioCyc PGDB for Dmel

FBGN0034075

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

CG8421

Flygut - An atlas of the Drosophila adult midgut

FBgn0034075

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

TC001594

References (60)

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

-0.45

Report Sections