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    HESX1 HESX homeobox 1 [ Homo sapiens (human) ]

    Gene ID: 8820, updated on 11-Jun-2021

    Summary

    Official Symbol
    HESX1provided by HGNC
    Official Full Name
    HESX homeobox 1provided by HGNC
    Primary source
    HGNC:HGNC:4877
    See related
    Ensembl:ENSG00000163666 MIM:601802
    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
    ANF; RPX; CPHD5
    Summary
    This gene encodes a conserved homeobox protein that is a transcriptional repressor in the developing forebrain and pituitary gland. Mutations in this gene are associated with septooptic dysplasia, HESX1-related growth hormone deficiency, and combined pituitary hormone deficiency. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in testis (RPKM 1.6), skin (RPKM 0.6) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See HESX1 in Genome Data Viewer
    Location:
    3p14.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (57197838..57227643, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (57231866..57261643, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene interleukin 17 receptor D Neighboring gene uncharacterized LOC105377101 Neighboring gene ribosomal protein L19 pseudogene 2 Neighboring gene uncharacterized LOC105377102 Neighboring gene adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 Neighboring gene ankyrin repeat and SOCS box containing 14 Neighboring gene dynein axonemal heavy chain 12 Neighboring gene RNA, U6 small nuclear 1181, pseudogene

    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

    Clone Names

    • MGC138294

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
     
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables chromatin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein C-terminus binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein N-terminus binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in ERK1 and ERK2 cascade IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in brain development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in camera-type eye development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in canonical Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to cadmium ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in forebrain morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gonad development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in leukemia inhibitory factor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in nose development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in otic vesicle formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pituitary gland development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in pituitary gland development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in stem cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in stem cell population maintenance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in thyroid gland development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    homeobox expressed in ES cells 1
    Names
    Rathke pouch homeobox
    homeobox protein ANF

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_008242.1 RefSeqGene

      Range
      5275..7415
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001376058.1NP_001362987.1  homeobox expressed in ES cells 1

      Status: REVIEWED

      Source sequence(s)
      AC093928
      Related
      ENSP00000498190.1, ENST00000647958.1
      Conserved Domains (1) summary
      pfam00046
      Location:111165
      Homeobox; Homeobox domain
    2. NM_001376059.1NP_001362988.1  homeobox expressed in ES cells 1

      Status: REVIEWED

      Source sequence(s)
      AC093928
      Conserved Domains (1) summary
      pfam00046
      Location:111165
      Homeobox; Homeobox domain
    3. NM_001376060.1NP_001362989.1  homeobox expressed in ES cells 1

      Status: REVIEWED

      Source sequence(s)
      AC093928
      Conserved Domains (1) summary
      pfam00046
      Location:111165
      Homeobox; Homeobox domain
    4. NM_001376061.1NP_001362990.1  homeobox expressed in ES cells 1

      Status: REVIEWED

      Source sequence(s)
      AC093928
      Conserved Domains (1) summary
      pfam00046
      Location:111165
      Homeobox; Homeobox domain
    5. NM_003865.3NP_003856.1  homeobox expressed in ES cells 1

      See identical proteins and their annotated locations for NP_003856.1

      Status: REVIEWED

      Source sequence(s)
      AC093928, AI652412, BC112089
      Consensus CDS
      CCDS2881.1
      UniProtKB/Swiss-Prot
      Q9UBX0
      UniProtKB/TrEMBL
      A0A024R364
      Related
      ENSP00000295934.3, ENST00000295934.8
      Conserved Domains (1) summary
      pfam00046
      Location:111165
      Homeobox; Homeobox domain

    RNA

    1. NR_164757.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC093928

    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_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      57197838..57227643 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005265526.4XP_005265583.1  homeobox expressed in ES cells 1 isoform X1

      See identical proteins and their annotated locations for XP_005265583.1

      UniProtKB/Swiss-Prot
      Q9UBX0
      UniProtKB/TrEMBL
      A0A024R364
      Conserved Domains (1) summary
      pfam00046
      Location:111165
      Homeobox; Homeobox domain
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