FlyBase Gene Report: Dmel\E(spl)mδ-HLH

General Information

Symbol

Dmel\E(spl)mδ-HLH

Species

D. melanogaster

Name

Enhancer of split mδ, helix-loop-helix

Annotation Symbol

CG8328

Feature Type

protein_coding_gene

FlyBase ID

FBgn0002734

Gene Model Status

Current

Stock Availability

16 publicly available

Gene Summary

Transcriptional repressor of genes that require a bHLH protein for their transcription (By similarity). May serve as a transcriptional regulator of the Achaete-scute complex (AS-C) genes (PubMed:1528887). Contributes to the neural-epidermal lineage decision during early neurogenesis (PubMed:1427040). As part of the Notch signaling pathway, required to maintain the self-renewal and identity of type II neuroblasts by regulating the expression of the transcriptional repressor erm (PubMed:28899667). (UniProt, Q01071)

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All Summaries

Alliance
Auto summary
Gene Group
UniProtKB
Interactive Fly

Also Known As

mδ, E(spl)mδ, HLHmdelta, HLHmδ, E(spl) region transcript mδ

Key Links

Genomic Location

Cytogenetic map

96F9-96F9

Sequence location

3R:25,997,621..25,998,633 [+]

Recombination map

3-89

RefSeq locus

NT_033777 REGION:25997621..25998633

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 (16 terms)

Molecular Function (6 terms)

Terms Based on Experimental Evidence (2 terms)

CV Term

Evidence

References

enables sequence-specific DNA binding

inferred from direct assay

(Jennings et al., 1999)

enables sequence-specific double-stranded DNA binding

inferred from direct assay

(Li et al., 2017)

Terms Based on Predictions or Assertions (4 terms)

CV Term

Evidence

References

enables DNA binding

inferred from electronic annotation with InterPro:IPR003650

(InterPro Project Members, 2004-)

enables DNA-binding transcription factor activity, RNA polymerase II-specific

inferred from biological aspect of ancestor with PANTHER:PTN004213585

(GO Reference Genome Project, 2011-)

enables protein dimerization activity

inferred from electronic annotation with InterPro:IPR011598, InterPro:IPR036638

(InterPro Project Members, 2004-)

enables RNA polymerase II cis-regulatory region sequence-specific DNA binding

inferred from biological aspect of ancestor with PANTHER:PTN004213585

(GO Reference Genome Project, 2011-)

Biological Process (9 terms)

Terms Based on Experimental Evidence (5 terms)

CV Term

Evidence

References

involved_in negative regulation of transcription by RNA polymerase II

inferred from direct assay

(Giagtzoglou et al., 2003)

inferred from mutant phenotype

(Giagtzoglou et al., 2003)

involved_in R1/R6 cell differentiation

inferred from mutant phenotype

(Bhattacharya and Baker, 2009)

involved_in R7 cell differentiation

inferred from mutant phenotype

(Bhattacharya and Baker, 2009)

involved_in regulation of neuroblast proliferation

inferred from mutant phenotype

(Li et al., 2017)

inferred from genetic interaction with UniProtKB:P51023

(Li et al., 2017)

involved_in somatic muscle development

inferred from mutant phenotype

(Engel and Rand, 2014)

Terms Based on Predictions or Assertions (4 terms)

CV Term

Evidence

References

involved_in anterior/posterior pattern specification

inferred from biological aspect of ancestor with PANTHER:PTN000105428

(GO Reference Genome Project, 2011-)

involved_in regulation of DNA-templated transcription

inferred from electronic annotation with InterPro:IPR003650

(InterPro Project Members, 2004-)

involved_in regulation of neurogenesis

inferred from biological aspect of ancestor with PANTHER:PTN000105428

(GO Reference Genome Project, 2011-)

involved_in regulation of transcription by RNA polymerase II

inferred from biological aspect of ancestor with PANTHER:PTN004213585

(GO Reference Genome Project, 2011-)

Cellular Component (1 term)

Terms Based on Experimental Evidence (0 terms)

Terms Based on Predictions or Assertions (1 term)

CV Term

Evidence

References

is_active_in nucleus

inferred from biological aspect of ancestor with PANTHER:PTN004213585

(GO Reference Genome Project, 2011-)

Gene Group (FlyBase)

ENHANCER OF SPLIT GENE COMPLEX

BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS

Protein Family (UniProt)

Protein Signatures (InterPro)

Summaries

Gene Group (FlyBase)

ENHANCER OF SPLIT GENE COMPLEX -: The Enhancer of split complex (E(spl)-C) of D.mel is a well characterized genetic locus on chromosome 3R containing 12 genes - with the exception of Kaz-m1, all are Notch responsive. Seven genes are basic helix-loop-helix (bHLH) transcription factors, four are bearded family genes. Kaz-m1 is unrelated, sharing some sequence similarity to Kazal class protease inhibitors. (Adapted from FBrf0211195).
BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS -: Basic helix-loop-helix (bHLH) transcription factors are sequence-specific DNA-binding proteins that regulate transcription. They are characterized by a 60 amino acid region comprising a basic DNA binding domain followed by a HLH motif formed from two amphipathic α-helices connected by a loop. bHLH transcription factors form homo- and hetero-dimeric complexes, which bind to a E box consensus sequence. (Adapted from PMID:15186484).

Protein Function (UniProtKB)

(UniProt, Q01071)

Gene Model and Products

Number of Transcripts

Number of Unique Polypeptides

Please see the JBrowse view of Dmel\E(spl)mδ-HLH for information on other features

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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 Q01071)

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 5.42

Gene model reviewed during 5.44

Transcript Data

Annotated Transcripts

Name

FlyBase ID

RefSeq ID

Length (nt)

Assoc. CDS (aa)

E(spl)mδ-HLH-RA

FBtr0084954

NM_079779

1013

173

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

E(spl)mδ-HLH-PA

FBpp0084328

20.2

173

7.19

Q01071

NP_524503

AAF56544

Polypeptides with Identical Sequences

There is only one protein coding transcript and one polypeptide associated with this gene

Additional Polypeptide Data and Comments

Reported size (kDa)

Comments

The predicted protein products of the seven HLH

genes in the E(spl) complex exhibit a great degree of sequence

similarity extending over the first 120 amino acids of the proteins. The

carboxy terminus is unique for each except for the terminal 4 amino acids,

which are identical in all of the proteins.

(Delidakis and Artavanis-Tsakonas, 1992)

External Data

Subunit Structure (UniProtKB)

Transcription repression requires formation of a complex with a corepressor protein (Groucho).

(UniProt, Q01071)

Domain

Has a particular type of basic domain (presence of a helix-interrupting proline) that binds to the N-box (CACNAG), rather than the canonical E-box (CANNTG).

The C-terminal WRPW motif is a transcriptional repression domain necessary for the interaction with Groucho, a transcriptional corepressor recruited to specific target DNA by Hairy-related proteins.

(UniProt, Q01071)

Crossreferences

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

Linkouts

Sequences Consistent with the Gene Model

Nucleotide / Polypeptide Records

UniProt

Q01071

Mapped Features

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

External Data

Crossreferences

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

E(spl)mdelta-HLH_1

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).

-0.37

Transcript Expression

in situ

Stage

Tissue/Position (including subcellular localization)

Reference

embryonic stage 7 -- 8

antennal anlage

Comment: reported as procephalic ectoderm anlage

(Fisher et al., 2012)

central brain anlage

Comment: reported as procephalic ectoderm anlage

(Fisher et al., 2012)

dorsal head epidermis anlage

Comment: reported as procephalic ectoderm anlage

(Fisher et al., 2012)

visual anlage

Comment: reported as procephalic ectoderm anlage

(Fisher et al., 2012)

ventral ectoderm

(Fisher et al., 2012)

embryonic stage 8 -- 11

ventral neurectoderm

(Wech et al., 1999)

proneural cluster

(Wech et al., 1999)

embryonic stage 9

endoderm

Comment: transiently expressed

(Wech et al., 1999)

embryonic stage 9 -- 10

antennal primordium

Comment: reported as procephalic ectoderm primordium

(Fisher et al., 2012)

central brain primordium

Comment: reported as procephalic ectoderm primordium

(Fisher et al., 2012)

visual primordium

Comment: reported as procephalic ectoderm primordium

(Fisher et al., 2012)

dorsal head epidermis primordium

Comment: reported as procephalic ectoderm primordium

(Fisher et al., 2012)

lateral head epidermis primordium

Comment: reported as procephalic ectoderm primordium

(Fisher et al., 2012)

ventral head epidermis primordium

Comment: reported as procephalic ectoderm primordium

(Fisher et al., 2012)

stomatogastric nervous system primordium

(Fisher et al., 2012)

ventral ectoderm

(Fisher et al., 2012)

embryonic stage 11 -- 12

antennal primordium