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HES4 hes family bHLH transcription factor 4 [ Homo sapiens (human) ]

Gene ID: 57801, updated on 13-Mar-2020

Summary

Official Symbol
HES4provided by HGNC
Official Full Name
hes family bHLH transcription factor 4provided by HGNC
Primary source
HGNC:HGNC:24149
See related
Ensembl:ENSG00000188290 MIM:608060
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
bHLHb42
Expression
Broad expression in fat (RPKM 3.0), prostate (RPKM 2.2) and 19 other tissues See more
Orthologs

Genomic context

See HES4 in Genome Data Viewer
Location:
1p36.33
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (998962..1001052, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (934342..936608, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene kelch like family member 17 Neighboring gene pleckstrin homology domain containing N1 Neighboring gene PPARGC1 and ESRR induced regulator, muscle 1 Neighboring gene ribosomal protein L39 pseudogene 12 Neighboring gene ISG15 ubiquitin like modifier

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
DNA-binding transcription repressor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
E-box binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
N-box binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein dimerization activity IEA
Inferred from Electronic Annotation
more info
 
transcription factor binding NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
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 
negative regulation of neuron differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
transcription factor HES-4
Names
bHLH factor Hes4
class B basic helix-loop-helix protein 42
hHES4
hairy and enhancer of split 4

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.

mRNA and Protein(s)

  1. NM_001142467.2NP_001135939.1  transcription factor HES-4 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents in-frame inclusion of an alternate intron and encodes a longer protein (isoform 1).
    Source sequence(s)
    BC012351, BI757407, BM713553, DB485006
    Consensus CDS
    CCDS44034.1
    UniProtKB/Swiss-Prot
    Q9HCC6
    UniProtKB/TrEMBL
    E9PB28
    Related
    ENSP00000393198.2, ENST00000428771.6
    Conserved Domains (2) summary
    cd00083
    Location:62119
    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, ...
    pfam07527
    Location:136174
    Hairy_orange; Hairy Orange
  2. NM_021170.4NP_066993.1  transcription factor HES-4 isoform 2

    See identical proteins and their annotated locations for NP_066993.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) represents an alternate intron and encodes a shorter protein (isoform 2), compared to transcript variant 1.
    Source sequence(s)
    BC012351, BI757407, DB485006
    Consensus CDS
    CCDS5.1
    UniProtKB/Swiss-Prot
    Q9HCC6
    Related
    ENSP00000304595.6, ENST00000304952.10
    Conserved Domains (2) summary
    cd00083
    Location:3393
    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, ...
    pfam07527
    Location:110148
    Hairy_orange; Hairy Orange

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_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    998962..1001052 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005244771.4XP_005244828.1  transcription factor HES-4 isoform X1

    UniProtKB/TrEMBL
    D6REB3
    Related
    ENSP00000425085.1, ENST00000484667.2
    Conserved Domains (2) summary
    cd00083
    Location:3761
    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, ...
    pfam07527
    Location:78116
    Hairy_orange; Hairy Orange
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