hlh-8 Twist-related protein [Caenorhabditis elegans] - Gene

Summary

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Official Symbol: hlh-8
Official Full Name: Twist-related protein
Primary source: WormBase:WBGene00001953
Locus tag: CELE_C02B8.4
See related: AllianceGenome:WB:WBGene00001953
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Caenorhabditis elegans (strain: Bristol N2)
Lineage: Eukaryota; Metazoa; Ecdysozoa; Nematoda; Chromadorea; Rhabditida; Rhabditina; Rhabditomorpha; Rhabditoidea; Rhabditidae; Peloderinae; Caenorhabditis
Summary: Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in mesodermal cell fate specification; positive regulation of transcription by RNA polymerase II; and vulval cell fate specification. Predicted to be located in nucleus. Is expressed in several structures, including M cell; M.dlpa male; M.drpa male; anal depressor muscle; and body muscle cell. Used to study Saethre-Chotzen syndrome. Human ortholog(s) of this gene implicated in Barber-Say syndrome; Sweeney-Cox syndrome; ablepharon macrostomia syndrome; breast cancer (multiple); and synostosis (multiple). Orthologous to several human genes including TWIST2 (twist family bHLH transcription factor 2). [provided by Alliance of Genome Resources, Nov 2024]
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Genomic context

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See hlh-8 in Genome Data Viewer

Location:: chromosome: X

Exon count:: 6

Sequence:: Chromosome: X; NC_003284.9 (8116457..8120340)

Chromosome X - NC_003284.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:: NC_003284.9

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A Twist-Box domain of the C. elegans Twist homolog, HLH-8, plays a complex role in transcriptional regulation.
Title: A Twist-Box domain of the C. elegans Twist homolog, HLH-8, plays a complex role in transcriptional regulation.
These results support a model whereby HLH-8/HLH-8 homodimers function in M lineage patterning and enteric muscles and HLH-8/HLH-2 heterodimers function in the M-derived vulval muscles.
Title: Distinct Caenorhabditis elegans HLH-8/twist-containing dimers function in the mesoderm.
hlh-8 expression in differentiated mesodermal cells is controlled by two well-conserved E box elements in the large first intron
Title: C. elegans twist gene expression in differentiated cell types is controlled by autoregulation through intron elements.
9 genes were defined as novel CeTwist and CeE/DA targets
Title: Identification of novel target genes of CeTwist and CeE/DA.

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

C02B8.4 (e-PCR)
- UniSTS:315371

Homology

Orthologs from OrthoDB

Gene Ontology Provided by WormBase

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in developmental process	IBA Inferred from Biological aspect of Ancestor more info
involved_in mesodermal cell fate specification	IDA Inferred from Direct Assay more info	PubMed
involved_in mesodermal cell fate specification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vulval cell fate specification	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in nucleus	IC Inferred by Curator more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: Twist-related protein

NP_509367.1

Confirmed by transcript evidence

NCBI Reference Sequences (RefSeq)

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Genome Annotation

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference assembly

Genomic

NC_003284.9 Reference assembly

Range

8116457..8120340

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_076966.3 → NP_509367.1 Twist-related protein [Caenorhabditis elegans]

See identical proteins and their annotated locations for NP_509367.1

Status: REVIEWED

UniProtKB/Swiss-Prot

O76255, Q11094

Conserved Domains (1) summary

pfam00010
Location:21 → 71

HLH; Helix-loop-helix DNA-binding domain