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HOXD1 homeobox D1 [ Homo sapiens (human) ]

Gene ID: 3231, updated on 13-Mar-2020

Summary

Official Symbol
HOXD1provided by HGNC
Official Full Name
homeobox D1provided by HGNC
Primary source
HGNC:HGNC:5132
See related
Ensembl:ENSG00000128645 MIM:142987
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

Genomic context

See HOXD1 in Genome Data Viewer
Location:
2q31.1
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (176188668..176190907)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (177053307..177055635)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene homeobox D3 Neighboring gene HOXD antisense growth-associated long non-coding RNA Neighboring gene HAGLR opposite strand lncRNA 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

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
embryonic skeletal system development IEA
Inferred from Electronic Annotation
more info
 
neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
sensory perception of pain IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    Q9GZZ0
    UniProtKB/TrEMBL
    Q96CA4
    Related
    ENSP00000328598.4, ENST00000331462.6
    Conserved Domains (1) summary
    pfam00046
    Location:233285
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

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