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HES5 hes family bHLH transcription factor 5 [ Homo sapiens (human) ]

Gene ID: 388585, updated on 8-Jul-2021

Summary

Official Symbol
HES5provided by HGNC
Official Full Name
hes family bHLH transcription factor 5provided by HGNC
Primary source
HGNC:HGNC:19764
See related
Ensembl:ENSG00000197921 MIM:607348
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
bHLHb38
Summary
This gene encodes a member of a family of basic helix-loop-helix transcriptional repressors. The protein product of this gene, which is activated downstream of the Notch pathway, regulates cell differentiation in multiple tissues. Disruptions in the normal expression of this gene have been associated with developmental diseases and cancer. [provided by RefSeq, Dec 2008]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See HES5 in Genome Data Viewer
Location:
1p36.32
Exon count:
2
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (2528745..2530554, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (2460184..2461702, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene peroxisomal biogenesis factor 10 Neighboring gene phospholipase C eta 2 Neighboring gene pantothenate kinase 4 (inactive) Neighboring gene TNFRSF14 antisense RNA 1 Neighboring gene TNF receptor superfamily member 14 Neighboring gene uncharacterized LOC100996583

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in Notch signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in S-shaped body morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in anterior/posterior pattern specification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in astrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in brain development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in camera-type eye development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cartilage development IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cell adhesion ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cell maturation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in central nervous system myelination ISS
Inferred from Sequence or Structural Similarity
more info
 
NOT involved_in chondrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in comma-shaped body morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in establishment of epithelial cell polarity IEA
Inferred from Electronic Annotation
more info
 
involved_in forebrain radial glial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in glial cell fate commitment ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in inner ear receptor cell stereocilium organization IEA
Inferred from Electronic Annotation
more info
 
involved_in metanephric nephron tubule morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of astrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of forebrain neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of inner ear auditory receptor cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of oligodendrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of pro-B cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of stem cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in neural tube development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in neuronal stem cell population maintenance IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in oligodendrocyte development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of BMP signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of cell population proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of receptor signaling pathway via JAK-STAT ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of smooth muscle cell proliferation IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of tyrosine phosphorylation of STAT protein ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in protein-containing complex assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of myelination ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of neurogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of neurogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in smoothened signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in specification of loop of Henle identity IEA
Inferred from Electronic Annotation
more info
 
involved_in telencephalon development ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
 
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
transcription factor HES-5
Names
class B basic helix-loop-helix protein 38
hairy and enhancer of split 5

NCBI Reference Sequences (RefSeq)

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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_001010926.4NP_001010926.1  transcription factor HES-5

    See identical proteins and their annotated locations for NP_001010926.1

    Status: REVIEWED

    Source sequence(s)
    AL139246, BX104111, DQ272660
    Consensus CDS
    CCDS41233.1
    UniProtKB/Swiss-Prot
    Q5TA89
    Related
    ENSP00000367714.3, ENST00000378453.4
    Conserved Domains (2) summary
    cd00083
    Location:1471
    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, ...
    cl02638
    Location:86121
    Hairy_orange; Hairy Orange

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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
    2528745..2530554 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005244751.4XP_005244808.1  transcription factor HES-5 isoform X1

    See identical proteins and their annotated locations for XP_005244808.1

    Conserved Domains (2) summary
    cd00083
    Location:1471
    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, ...
    cl02638
    Location:118153
    Hairy_orange; Hairy Orange

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187515.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    79935..81453 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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