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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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HOXA1
homeobox A1
Chromosome 7 · 7p15.2
NCBI Gene: 3198Ensembl: ENSG00000105991.10HGNC: HGNC:5099UniProt: E7ERT8
122PubMed Papers
22Diseases
0Drugs
5Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cognitionneuromuscular processartery developmentcochlea morphogenesisBosley-Salih-Alorainy syndromeAthabaskan brainstem dysgenesis syndromehuman HOXA1 syndromessyndromic intellectual disability
✦AI Summary

HOXA1 is a sequence-specific transcription factor that plays critical roles in development and disease. As a developmental regulator, HOXA1 controls cell cycle progression by regulating p21/CDKN1A, promoting bronchial epithelial cell proliferation and migration 1. The protein participates in vascular smooth muscle cell transformation through transcriptional activation of NF-κB p65 and KLF4, contributing to atherosclerosis pathogenesis 2. In cancer contexts, HOXA1 functions as an oncogene in breast cancer 3 and shows complex roles across different malignancies 4. In small cell lung cancer, reduced HOXA1 expression correlates with chemoresistance and poor prognosis, with its downregulation mediated by miR-100 5. HOXA1 also influences colorectal cancer metastasis through interactions with CXCR4 and β-catenin signaling pathways 6. Additionally, HOXA1 serves as a protective factor in diabetic retinopathy and functions as a potential biomarker related to neutrophil extracellular traps 7. The gene shows associations with T-lineage acute lymphoblastic leukemia, particularly in HOXA1-deregulated cases with JAK3/STAT5B mutations 8. These diverse functions highlight HOXA1's importance in cellular differentiation, proliferation, and disease pathogenesis.

Sources cited
1
HOXA1 contributes to cell cycle progression by regulating p21/CDKN1A and promotes bronchial epithelial cell proliferation and migration
PMID: 40076953
2
HOXA1 participates in vascular smooth muscle cell transformation via transcriptional activation of NF-κB p65 and KLF4, contributing to atherosclerosis
PMID: 37528397
3
HOXA1 functions as an oncogene in breast cancer
PMID: 35675857
4
HOXA1 shows complex roles across different cancer types
PMID: 40760270
5
Reduced HOXA1 expression correlates with chemoresistance and poor prognosis in small cell lung cancer, regulated by miR-100
PMID: 24559685
6
HOXA1 influences colorectal cancer metastasis through interactions with CXCR4 and β-catenin signaling
PMID: 39587482
7
HOXA1 serves as a protective factor in diabetic retinopathy and functions as a biomarker related to neutrophil extracellular traps
PMID: 39483475
8
HOXA1 shows associations with T-lineage acute lymphoblastic leukemia, particularly in cases with JAK3/STAT5B mutations
PMID: 28671688
Disease Associationsⓘ22
Bosley-Salih-Alorainy syndromeOpen Targets
0.73Strong
Athabaskan brainstem dysgenesis syndromeOpen Targets
0.72Strong
human HOXA1 syndromesOpen Targets
0.72Strong
syndromic intellectual disabilityOpen Targets
0.37Weak
multiple sclerosisOpen Targets
0.23Weak
genetic disorderOpen Targets
0.19Weak
bilateral microtia-deafness-cleft palate syndromeOpen Targets
0.12Weak
Intellectual disabilityOpen Targets
0.11Weak
neoplasmOpen Targets
0.10Weak
breast cancerOpen Targets
0.10Suggestive
oral squamous cell carcinomaOpen Targets
0.10Suggestive
non-small cell lung carcinomaOpen Targets
0.09Suggestive
gastric cancerOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
lung adenocarcinomaOpen Targets
0.09Suggestive
nasopharyngeal carcinomaOpen Targets
0.09Suggestive
glioblastoma multiformeOpen Targets
0.09Suggestive
melanomaOpen Targets
0.08Suggestive
head and neck squamous cell carcinomaOpen Targets
0.08Suggestive
liver cancerOpen Targets
0.08Suggestive
Athabaskan brainstem dysgenesis syndromeUniProt
Bosley-Salih-Alorainy syndromeUniProt
Pathogenic Variants5
NM_005522.5(HOXA1):c.175dup (p.Val59fs)Pathogenic
Bosley-Salih-Alorainy syndrome|Human HOXA1 syndromes|not provided
★☆☆☆2023→ Residue 59
NM_005522.5(HOXA1):c.76C>T (p.Arg26Ter)Pathogenic
Human HOXA1 syndromes|not provided
★☆☆☆2022→ Residue 26
NM_005522.5(HOXA1):c.669C>A (p.Tyr223Ter)Likely pathogenic
Human HOXA1 syndromes
★☆☆☆→ Residue 223
NM_005522.5(HOXA1):c.185del (p.Gly62fs)Pathogenic
Bosley-Salih-Alorainy syndrome
☆☆☆☆2008→ Residue 62
NM_005522.5(HOXA1):c.84C>G (p.Tyr28Ter)Pathogenic
Bosley-Salih-Alorainy syndrome
☆☆☆☆2005→ Residue 28
View on ClinVar ↗
Related Genes
PBX1Protein interaction100%HOXB1Protein interaction96%HOXD1Protein interaction91%CHN1Protein interaction73%SALL4Protein interaction73%PKNOX1Protein interaction71%
Tissue Expression6 tissues
Ovary
100%
Lung
76%
Bone Marrow
62%
Liver
24%
Brain
16%
Heart
3%
Gene Interaction Network
Click a node to explore
HOXA1PBX1HOXB1HOXD1CHN1SALL4PKNOX1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P49639
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.01LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.70 [0.50–1.01]
RankingsWhere HOXA1 stands among ~20K protein-coding genes
  • #3,854of 20,598
    Most Researched122 · top quartile
  • #3,515of 5,498
    Most Pathogenic Variants5
  • #9,857of 17,882
    Most Constrained (LOEUF)1.01
Genes detectedHOXA1
Sources retrieved10 papers
Response time—
📄 Sources
10â–¼
1
The genomic landscape of pediatric and young adult T-lineage acute lymphoblastic leukemia.
PMID: 28671688
Nat Genet · 2017
1.00
2
HOXA1, a breast cancer oncogene.
PMID: 35675857
Biochim Biophys Acta Rev Cancer · 2022
0.90
3
The role of HOXA1 in cancer and targeted therapy.
PMID: 40760270
Med Oncol · 2025
0.80
4
HOXA1 participates in VSMC-to-macrophage-like cell transformation via regulation of NF-κB p65 and KLF4: a potential mechanism of atherosclerosis pathogenesis.
PMID: 37528397
Mol Med · 2023
0.70
5
HOXA1 Contributes to Bronchial Epithelial Cell Cycle Progression by Regulating p21/CDKN1A.
PMID: 40076953
Int J Mol Sci · 2025
0.60