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    HOXD1 homeobox D1 [ Homo sapiens (human) ]

    Gene ID: 3231, updated on 10-Dec-2024

    Summary

    Official Symbol
    HOXD1provided by HGNC
    Official Full Name
    homeobox D1provided by HGNC
    Primary source
    HGNC:HGNC:5132
    See related
    Ensembl:ENSG00000128645 MIM:142987; AllianceGenome:HGNC:5132
    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
    HOX4; HOX4G; Hox-4.7
    Summary
    This gene is a member of the Antp homeobox family and encodes a protein with a homeobox DNA-binding domain. This nuclear protein functions as a sequence-specific transcription factor that is involved in differentiation and limb development. Mutations in this gene have been associated with severe developmental defects on the anterior-posterior (a-p) limb axis. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in kidney (RPKM 1.7), lung (RPKM 1.6) and 16 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See HOXD1 in Genome Data Viewer
    Location:
    2q31.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (176188668..176190907)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (176676799..176679038)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (177053396..177055635)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:177019995-177020498 Neighboring gene homeobox D4 Neighboring gene homeobox D3 Neighboring gene Sharpr-MPRA regulatory region 15219 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:177036349-177036959 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:177042291-177043085 Neighboring gene HOXD antisense growth-associated long non-coding RNA Neighboring gene HAGLR opposite strand lncRNA Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:177056998-177057538 Neighboring gene microRNA 7704 Neighboring gene ribosomal protein lateral stalk subunit P1 pseudogene 4 Neighboring gene ribosomal protein SA pseudogene 25

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (15 hits/1282 screens)

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in embryonic skeletal system development  
    involved_in neuron differentiation  
    involved_in regulation of transcription by RNA polymerase II  
    involved_in sensory perception of pain  
    Component Evidence Code Pubs
    located_in chromatin  
    located_in nucleoplasm  
    is_active_in nucleus  

    General protein information

    Preferred Names
    homeobox protein Hox-D1
    Names
    homeo box 4G
    homeo box D1
    homeobox protein Hox-GG

    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.

    mRNA and Protein(s)

    1. NM_024501.3 → NP_078777.1  homeobox protein Hox-D1

      See identical proteins and their annotated locations for NP_078777.1

      Status: REVIEWED

      Source sequence(s)
      AF241528, BC014477
      Consensus CDS
      CCDS2271.1
      UniProtKB/Swiss-Prot
      B2RAB4, Q9GZZ0
      UniProtKB/TrEMBL
      Q96CA4
      Related
      ENSP00000328598.4, ENST00000331462.6
      Conserved Domains (1) summary
      pfam00046
      Location:233 → 285
      Homeobox; Homeobox domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      176188668..176190907
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047444086.1 → XP_047300042.1  homeobox protein Hox-D1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      176676799..176679038
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341650.1 → XP_054197625.1  homeobox protein Hox-D1 isoform X1

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