HOXA1 homeobox A1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HOXA1provided by HGNC
Official Full Name: homeobox A1provided by HGNC
Primary source: HGNC:HGNC:5099
See related: Ensembl:ENSG00000105991 MIM:142955; AllianceGenome:HGNC:5099
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: BSAS; HOX1; HOX1F
Summary: In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. The encoded protein may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development. Two transcript variants encoding two different isoforms have been found for this gene, with only one of the isoforms containing the homeodomain region. [provided by RefSeq, Jul 2008]
Expression: Biased expression in urinary bladder (RPKM 4.0), skin (RPKM 1.0) and 13 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 7p15.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (27092993..27096000, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (27228895..27231899, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (27132612..27135619, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues 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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HOXA1 promotes aerobic glycolysis and cancer progression in cervical cancer.
Title: HOXA1 promotes aerobic glycolysis and cancer progression in cervical cancer.
HOXA1 silencing inhibits cisplatin resistance of oral squamous cell carcinoma cells via IkappaB/NF-kappaB signaling pathway.
Title: HOXA1 silencing inhibits cisplatin resistance of oral squamous cell carcinoma cells via IκB/NF-κB signaling pathway.
A poly-histidine motif of HOXA1 is involved in regulatory interactions with cysteine-rich proteins.
Title: A poly-histidine motif of HOXA1 is involved in regulatory interactions with cysteine-rich proteins.
Downregulation of homeobox A1 in human granulosa cells is involved in diminished ovarian reserve through promoting cell apoptosis and mitochondrial dysfunction.
Title: Downregulation of homeobox A1 in human granulosa cells is involved in diminished ovarian reserve through promoting cell apoptosis and mitochondrial dysfunction.
Circ_0058063 regulates the development of esophageal cancer through miR-377-3p/HOXA1 axis.
Title: Circ_0058063 regulates the development of esophageal cancer through miR-377-3p/HOXA1 axis.
HOXA1 promotes proliferation and metastasis of bladder cancer by enhancing SMAD3 transcription.
Title: HOXA1 promotes proliferation and metastasis of bladder cancer by enhancing SMAD3 transcription.
HOXA1, a breast cancer oncogene.
Title: HOXA1, a breast cancer oncogene.
Hsa_circ_0074032 promotes prostate cancer progression through elevating homeobox A1 expression by serving as a microRNA-198 decoy.
Title: Hsa_circ_0074032 promotes prostate cancer progression through elevating homeobox A1 expression by serving as a microRNA-198 decoy.
CircRASSF2 acts as a prognostic factor and promotes breast cancer progression by modulating miR-1205/HOXA1 axis.
Title: CircRASSF2 acts as a prognostic factor and promotes breast cancer progression by modulating miR-1205/HOXA1 axis.
MiR-10a-5p restrains the aggressive phenotypes of ovarian cancer cells by inhibiting HOXA1.
Title: MiR-10a-5p restrains the aggressive phenotypes of ovarian cancer cells by inhibiting HOXA1.

Submit: New GeneRIF Correction See all GeneRIFs (78)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Human HOXA1 syndromes MedGen: C1832215 OMIM: 601536 GeneReviews: Not available	Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat specifically associates with HOXA1 promoter to upregulate HOXA1 expression in T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

ha2793 (e-PCR)
- UniSTS:515597

ECD02348 (e-PCR)
- UniSTS:283447

HOXA1__1199 (e-PCR)
- UniSTS:277317

HOXA1__v322 (e-PCR)
- UniSTS:277317

ECD03147 (e-PCR)
- UniSTS:284234

STS-U10421 (e-PCR)
- UniSTS:34895

SHGC-35668 (e-PCR)
- UniSTS:14673

stSG609305 (e-PCR)
- UniSTS:449405

REN100295 (e-PCR)
- UniSTS:425092

REN100296 (e-PCR)
- UniSTS:425093

REN100297 (e-PCR)
- UniSTS:425094

REN100298 (e-PCR)
- UniSTS:425095

REN100299 (e-PCR)
- UniSTS:425096

REN100300 (e-PCR)
- UniSTS:425097

REN100301 (e-PCR)
- UniSTS:425098

REN100302 (e-PCR)
- UniSTS:425099

REN100303 (e-PCR)
- UniSTS:425100

REN100304 (e-PCR)
- UniSTS:425101

REN100305 (e-PCR)
- UniSTS:425102

REN100306 (e-PCR)
- UniSTS:425103

REN100307 (e-PCR)
- UniSTS:425104

REN100308 (e-PCR)
- UniSTS:425105

REN100309 (e-PCR)
- UniSTS:425106

REN100310 (e-PCR)
- UniSTS:425107

REN100311 (e-PCR)
- UniSTS:425108

REN100312 (e-PCR)
- UniSTS:425109

REN100313 (e-PCR)
- UniSTS:425110

REN100314 (e-PCR)
- UniSTS:425111

REN100315 (e-PCR)
- UniSTS:425112

REN100317 (e-PCR)
- UniSTS:425114

ECD00936 (e-PCR)
- UniSTS:282045

ECD00702 (e-PCR)
- UniSTS:281811

ECD02529 (e-PCR)
- UniSTS:283624

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in abducens nerve formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in anatomical structure morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in artery development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in artery morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cochlea development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cochlea morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cognition	IDA Inferred from Direct Assay more info	PubMed
involved_in embryonic neurocranium morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in inner ear development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuromuscular process	IDA Inferred from Direct Assay more info	PubMed
involved_in optokinetic behavior	IDA Inferred from Direct Assay more info	PubMed
involved_in outer ear morphogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of behavior	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in semicircular canal formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sensory perception of sound	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

Go to the top of the page Help

Preferred Names: homeobox protein Hox-A1

Names: HOX A1 homeodomain protein; Hox 1.6-like protein; homeo box A1; homeobox 1F; homeobox protein Hox-1F; lab-like protein

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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.

Genomic

NG_011813.2 RefSeqGene

Range

5000..8007

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005522.5 → NP_005513.2 homeobox protein Hox-A1 isoform a

Status: REVIEWED

Source sequence(s)

AC004079

Consensus CDS

CCDS5401.1

UniProtKB/Swiss-Prot

A0A2R8Y4R9, A4D184, B2R8U7, O43363, P49639

Related

ENSP00000494260.2, ENST00000643460.2

Conserved Domains (2) summary

COG5576
Location:176 → 286

COG5576; Homeodomain-containing transcription factor [Transcription]

pfam00046
Location:233 → 286

Homeobox; Homeobox domain
NM_153620.3 → NP_705873.3 homeobox protein Hox-A1 isoform b

Status: REVIEWED

Source sequence(s)

AC004079

Consensus CDS

CCDS5402.2

UniProtKB/TrEMBL

A4D185, E7ERT8

Related

ENSP00000347851.5, ENST00000355633.5