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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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HOXD1
homeobox D1
Chromosome 2 · 2q31.1
NCBI Gene: 3231Ensembl: ENSG00000128645.16HGNC: HGNC:5132UniProt: Q96CA4
30PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleoplasmsequence-specific double-stranded DNA bindingchromatinregulation of transcription by RNA polymerase IIandrogenetic alopeciaAbnormality of the skeletal systemgouthypertension
✦AI Summary

HOXD1 is a sequence-specific transcription factor that plays critical roles in development and disease. As part of the HOX gene family, HOXD1 provides positional identity during embryogenesis and is expressed in various developmental contexts including oocytes, embryonic mesodermal derivatives, and oligodendroglial cells 12. The protein functions by binding to specific DNA sequences, with demonstrated binding to the myelin oligodendrocyte glycoprotein (MOG) promoter through recognition of TAATTG consensus sequences 2. HOXD1 expression is regulated by DNA methylation and can be induced during cellular differentiation, particularly in neuroblastoma cells treated with retinoic acid 34. In cancer, HOXD1 appears to function as a tumor suppressor, with downregulation associated with poor prognosis in lung adenocarcinoma and renal cell carcinoma 45. The gene regulates downstream targets including BMP2 and BMP6, contributing to its anti-tumorigenic effects 4. Additionally, genetic variants near HOXD1 are associated with ovarian cancer risk and regulation of incretin hormone concentrations, suggesting broader roles in metabolic regulation 67.

Sources cited
1
HOXD1 is expressed in oocytes and embryonic mesodermal derivatives during development
PMID: 11731253
2
HOXD1 is expressed by oligodendroglial cells and binds to MOG promoter sequences
PMID: 17554625
3
HOXD1 expression is induced during neuroblastoma cell differentiation by retinoic acid
PMID: 7501971
4
HOXD1 functions as tumor suppressor in lung adenocarcinoma and is regulated by DNA methylation
PMID: 39450540
5
HOXD1 downregulation is associated with poor prognosis in renal cell carcinoma
PMID: 37827698
6
Genetic variants near HOXD1 are associated with ovarian cancer risk
PMID: 29262571
7
HOXD1 variants are associated with incretin hormone concentrations
PMID: 29093273
Disease Associationsⓘ20
androgenetic alopeciaOpen Targets
0.33Weak
Abnormality of the skeletal systemOpen Targets
0.32Weak
goutOpen Targets
0.31Weak
hypertensionOpen Targets
0.09Suggestive
ovarian carcinomaOpen Targets
0.09Suggestive
cancerOpen Targets
0.08Suggestive
ovarian serous carcinomaOpen Targets
0.08Suggestive
lung adenocarcinomaOpen Targets
0.07Suggestive
adrenal cortex carcinomaOpen Targets
0.07Suggestive
autosomal recessive spondylocostal dysostosisOpen Targets
0.07Suggestive
Posterior fusion of lumbosacral vertebrae - blepharoptosisOpen Targets
0.07Suggestive
posterior fusion of lumbosacral vertebrae-blepharoptosis syndromeOpen Targets
0.07Suggestive
Familial Scheuermann diseaseOpen Targets
0.06Suggestive
Scheuermann diseaseOpen Targets
0.06Suggestive
Benign Ovarian NeoplasmOpen Targets
0.06Suggestive
spondyloepiphyseal dysplasia tarda, Kohn typeOpen Targets
0.06Suggestive
Klippel-Feil syndrome 3, autosomal dominantOpen Targets
0.06Suggestive
lagophthalmosOpen Targets
0.06Suggestive
Skeletal dysplasia - intellectual disabilityOpen Targets
0.05Suggestive
skeletal dysplasia-intellectual disability syndromeOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HOXB1Protein interaction94%HOXA1Protein interaction91%LNPKProtein interaction83%HOXD3Co-mentioned in literature30%
Tissue Expression6 tissues
Brain
100%
Lung
18%
Ovary
11%
Bone Marrow
3%
Heart
0%
Liver
0%
Gene Interaction Network
Click a node to explore
HOXD1HOXB1HOXA1LNPKHOXD3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96CA4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.38LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.92 [0.63–1.38]
RankingsWhere HOXD1 stands among ~20K protein-coding genes
  • #11,941of 20,598
    Most Researched30
  • #14,357of 17,882
    Most Constrained (LOEUF)1.38
Genes detectedHOXD1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Up-regulation of HOXC6, HOXD1, and HOXD8 homeobox gene expression in human neuroblastoma cells following chemical induction of differentiation.
PMID: 7501971
Tumour Biol · 1996
1.00
2
Ovarian cancer variant rs2072590 is associated with HOXD1 and HOXD3 gene expression.
PMID: 29262571
Oncotarget · 2017
0.90
3
Hoxd1 is expressed by oligodendroglial cells and binds to a region of the human myelin oligodendrocyte glycoprotein promoter in vitro.
PMID: 17554625
Cell Mol Neurobiol · 2007
0.80
4
Cloning of HOXD1 from unfertilised human oocytes and expression analyses during murine oogenesis and embryogenesis.
PMID: 11731253
Mech Dev · 2001
0.70
5
A pan-cancer analysis of the role of HOXD1, HOXD3, and HOXD4 and validation in renal cell carcinoma.
PMID: 37827698
Aging (Albany NY) · 2023
0.60