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HOXD1 homeobox D1 [ Homo sapiens (human) ]

Gene ID: 3231, updated on 27-Nov-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
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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: 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?

Phenotypes

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

Products Interactant Other Gene Complex Source Pubs Description

General protein information

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

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_024501.3NP_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:233285
    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_047444086.1XP_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_054341650.1XP_054197625.1  homeobox protein Hox-D1 isoform X1