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HES7 hes family bHLH transcription factor 7 [ Homo sapiens (human) ]

Gene ID: 84667, updated on 13-Mar-2020

Summary

Official Symbol
HES7provided by HGNC
Official Full Name
hes family bHLH transcription factor 7provided by HGNC
Primary source
HGNC:HGNC:15977
See related
Ensembl:ENSG00000179111 MIM:608059
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SCDO4; bHLHb37
Summary
This gene encodes a member of the hairy and enhancer of split family of bHLH transcription factors. The mouse ortholog of this gene is regulated by Notch signaling. The protein functions as a transcriptional repressor, and is implicated in correct patterning of the axial skeleton. A mutation in this gene has been shown to result in spondylocostal dysostosis. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See HES7 in Genome Data Viewer
Location:
17p13.1
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (8120590..8126032, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (8023908..8027410, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene tRNA-Gln (anticodon CTG) 1-5 Neighboring gene tRNA-Leu (anticodon TAG) 1-1 Neighboring gene tRNA-Arg (anticodon TCT) 2-1 Neighboring gene tRNA-Gly (anticodon GCC) 2-6 Neighboring gene uncharacterized LOC105376799 Neighboring gene tRNA-Ser (anticodon CGA) 1-1 Neighboring gene tRNA-Thr (anticodon AGT) 5-1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
anterior/posterior pattern specification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mesoderm development NAS
Non-traceable Author Statement
more info
PubMed 
negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
post-anal tail morphogenesis IEA
Inferred from Electronic Annotation
more info
 
regulation of neurogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
rhythmic process IEA
Inferred from Electronic Annotation
more info
 
skeletal system development IEA
Inferred from Electronic Annotation
more info
 
somitogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
transcription factor HES-7
Names
bHLH factor Hes7
class B basic helix-loop-helix protein 37
hHes7
hairy and enhancer of split 7

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_015816.1 RefSeqGene

    Range
    4987..8501
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001165967.2NP_001159439.1  transcription factor HES-7 isoform 1

    See identical proteins and their annotated locations for NP_001159439.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC129492, BC039887, BI259590
    Consensus CDS
    CCDS54085.1
    UniProtKB/Swiss-Prot
    Q9BYE0
    Related
    ENSP00000446205.2, ENST00000541682.7
    Conserved Domains (1) summary
    cd00083
    Location:1473
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
  2. NM_032580.4NP_115969.2  transcription factor HES-7 isoform 2

    See identical proteins and their annotated locations for NP_115969.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site, compared to variant 1. The resulting isoform (2) lacks a five amino acid segment, compared to isoform 1.
    Source sequence(s)
    AB049064, AC129492, BC039887, BI259590
    Consensus CDS
    CCDS42258.1
    UniProtKB/Swiss-Prot
    Q9BYE0
    Related
    ENSP00000314774.4, ENST00000317814.8
    Conserved Domains (1) summary
    cd00083
    Location:1473
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    8120590..8126032 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024451007.1XP_024306775.1  transcription factor HES-7 isoform X1

    Conserved Domains (1) summary
    cd00083
    Location:49108
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
  2. XM_017025232.1XP_016880721.1  transcription factor HES-7 isoform X1

    Conserved Domains (1) summary
    cd00083
    Location:49108
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
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