HOXA1 - homeobox A1 Gene

Homo sapiens

Also known as BSAS; HOX1; HOX1F

Gene ID: 3198 | Gene type: protein coding

About HOXA1

Cytogenetic location: 7p15.2 Genomic coordinates (GRCh38): 7:27,092,993-27,096,000 (from NCBI)

This gene has 2 transcripts (splice variants), 201 orthologues, 42 paralogues and is associated with 4 phenotypes. Biased expression in urinary bladder (RPKM 4.0), skin (RPKM 1.0) and 13 other tissues.

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]

HOXA1 Products(2)

mRNA	Protein	Name
NM_005522.5	NP_005513.2	homeobox protein Hox-A1 isoform a
NM_153620.3	NP_705873.3	homeobox protein Hox-A1 isoform b

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	15665309	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	21516116	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA
enables sequence-specific DNA binding	IDA IDA: Inferred from direct assay	23332764	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in abducens nerve formation	IMP IMP: Inferred from mutant phenotype	16155570	GOA
involved in anatomical structure morphogenesis	IMP IMP: Inferred from mutant phenotype	16155570	GOA
involved in artery development	IMP IMP: Inferred from mutant phenotype	16155570	GOA
involved in artery morphogenesis	IMP IMP: Inferred from mutant phenotype	16155570	GOA
involved in cochlea development	IMP IMP: Inferred from mutant phenotype	16155570	GOA
involved in cochlea morphogenesis	IMP IMP: Inferred from mutant phenotype	16155570	GOA
involved in cognition	IDA IDA: Inferred from direct assay	16155570	GOA
involved in embryonic neurocranium morphogenesis	IMP IMP: Inferred from mutant phenotype	16155570	GOA
involved in inner ear development	IMP IMP: Inferred from mutant phenotype	16155570	GOA
involved in neuromuscular process	IDA IDA: Inferred from direct assay	16155570	GOA
involved in optokinetic behavior	IDA IDA: Inferred from direct assay	16155570	GOA
involved in outer ear morphogenesis	IDA IDA: Inferred from direct assay	16155570	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	15665309	GOA
involved in regulation of behavior	IDA IDA: Inferred from direct assay	16155570	GOA
involved in semicircular canal formation	IMP IMP: Inferred from mutant phenotype	16155570	GOA
involved in sensory perception of sound	IDA IDA: Inferred from direct assay	16155570	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HOXA1 Protein Structure

Homeobox

0
100
200
300
335 a.a.

Protein Preferred Names

Protein Names

homeobox protein Hox-A1

HOX A1 homeodomain protein

Recombinant HOXA1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P74879	HOXA1 Protein, Human (His)	P49639-1 (M1-H335)	≥95%

Related Diseases

Diseases

Alias

Athabaskan Brainstem Dysgenesis Syndrome

Bosley-Salih-Alorainy Syndrome	Navajo Brainstem Syndrome
ABDS	Human Hoxa1 Syndromes
BSAS	Athabaskan Brainstem Dysgenesis
Bosley Salih Alorainy Syndrome	Absd
Athabascan Brainstem Dysgenesis Syndrome	Narvajo Brainstem Syndrome

Septal Myocardial Infarction

Embryonal Carcinoma

Embryonal Neoplasm	Embryonal Cancer
Primary Extragonadal Embryonal Carcinoma	Embryo Neoplasm
Carcinoma Embryonal	Cancer Embryonal
Carcinoma, Embryonal	Extragonadal Embryonal Carcinoma
Cancer, Embryonal

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

Asperger Syndrome

Asperger Disorder

Asperger Syndrome, Susceptibility To

Accommodative Esotropia

Esotropia With Accommodative Compensation

Moebius Syndrome

Mobius Syndrome	Moebius Sequence
Oromandibular-Limb Hypogenesis Spectrum	Congenital Facial Diplegia
MBS	Moebius Congenital Oculofacial Paralysis
Absence Or Underdevelopment Of The 6th And 7th Cranial Nerves	Congenital Facial Diplegia Syndrome
Congenital Oculofacial Paralysis	Congenital Ophthalmoplegia And Facial Paresis
Moebius Spectrum	Möbius Sequence
Möbius Syndrome	Mobius Ii Syndrome

Duane Retraction Syndrome

Stilling-Turk-Duane Syndrome	Duane'S Syndrome
Duane Syndrome	Isolated Duane Retraction Syndrome
Co-Contractive Retraction Syndrome	Duane Anomaly, Isolated
Ocular Retraction Syndrome	Drs
Durs

Congenital Fibrosis Of The Extraocular Muscles

Congenital Fibrosis Of Extraocular Muscles	Cfeom
Feom	Congenital External Ophthalmoplegia
Congenital Fibrosis Syndrome	General Fibrosis Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06293	HOXA1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	HOXA1	VGNC	VGNC:67614
Macaca mulatta	HOXA1	VGNC	VGNC:73501
Bos taurus	HOXA1	VGNC	VGNC:29908
Mus musculus	HOXA1	MGD	MGI:96170
Canis familiaris	HOXA1	VGNC	VGNC:41744
Rattus norvegicus	HOXA1	RGD	RGD:11414885
Others	HOXA1	NCBI

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