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    HESX1 HESX homeobox 1 [ Homo sapiens (human) ]

    Gene ID: 8820, updated on 5-Nov-2016
    Official Symbol
    HESX1provided by HGNC
    Official Full Name
    HESX homeobox 1provided by HGNC
    Primary source
    HGNC:HGNC:4877
    See related
    Ensembl:ENSG00000163666 HPRD:03482; MIM:601802; Vega:OTTHUMG00000158597
    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]
    Orthologs
    Location:
    3p14.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 3 NC_000003.12 (57197838..57227643, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (57231866..57261656, 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Ectoderm Differentiation, organism-specific biosystem (from WikiPathways)
      Ectoderm Differentiation, organism-specific biosystemModel depicting ectoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
    • Signaling pathways regulating pluripotency of stem cells, organism-specific biosystem (from KEGG)
      Signaling pathways regulating pluripotency of stem cells, organism-specific biosystemPluripotent stem cells (PSCs) are basic cells with an indefinite self-renewal capacity and the potential to generate all the cell types of the three germinal layers. The types of PSCs known to date i...
    • Signaling pathways regulating pluripotency of stem cells, conserved biosystem (from KEGG)
      Signaling pathways regulating pluripotency of stem cells, conserved biosystemPluripotent stem cells (PSCs) are basic cells with an indefinite self-renewal capacity and the potential to generate all the cell types of the three germinal layers. The types of PSCs known to date i...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC138294

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    chromatin binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein C-terminus binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein N-terminus binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    brain development TAS
    Traceable Author Statement
    more info
    PubMed 
    forebrain morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    nose development IEA
    Inferred from Electronic Annotation
    more info
     
    otic vesicle formation IEA
    Inferred from Electronic Annotation
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    homeobox expressed in ES cells 1
    Names
    Rathke pouch homeobox
    hAnf
    homeobox protein ANF

    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
      5001..7337
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003865.2NP_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, OTTHUMP00000213130, ENST00000295934, OTTHUMT00000351430
      Conserved Domains (1) summary
      pfam00046
      Location:111164
      Homeobox; Homeobox domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p7 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_005265526.4XP_005265583.1  

      See identical proteins and their annotated locations for XP_005265583.1

      UniProtKB/Swiss-Prot
      Q9UBX0
      UniProtKB/TrEMBL
      A0A024R364
      Conserved Domains (1) summary
      pfam00046
      Location:111164
      Homeobox; Homeobox domain
    2. XM_017007421.1XP_016862910.1  

      UniProtKB/Swiss-Prot
      Q9UBX0
      UniProtKB/TrEMBL
      A0A024R364
      Conserved Domains (1) summary
      pfam00046
      Location:111164
      Homeobox; Homeobox domain
    3. XM_011534204.2XP_011532506.1  

      See identical proteins and their annotated locations for XP_011532506.1

      UniProtKB/Swiss-Prot
      Q9UBX0
      UniProtKB/TrEMBL
      A0A024R364
      Conserved Domains (1) summary
      pfam00046
      Location:111164
      Homeobox; Homeobox domain
    4. XM_011534205.2XP_011532507.1  

      See identical proteins and their annotated locations for XP_011532507.1

      UniProtKB/Swiss-Prot
      Q9UBX0
      UniProtKB/TrEMBL
      A0A024R364
      Conserved Domains (1) summary
      pfam00046
      Location:111164
      Homeobox; Homeobox domain
    5. XM_006713379.3XP_006713442.1  

      See identical proteins and their annotated locations for XP_006713442.1

      UniProtKB/Swiss-Prot
      Q9UBX0
      UniProtKB/TrEMBL
      A0A024R364
      Conserved Domains (1) summary
      pfam00046
      Location:111164
      Homeobox; Homeobox domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      57182092..57184428 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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