Free for academic non-profit institutions. Other users need a Commercial license

Aliases for HOXA1 Gene

Aliases for HOXA1 Gene

  • Homeobox A1 2 3 5
  • Homeobox Protein Hox-1F 3 4
  • Homeo Box A1 2 3
  • HOX1F 3 4
  • HOX A1 Homeodomain Protein 3
  • Hox 1.6-Like Protein 3
  • Lab-Like Protein 3
  • Homeobox 1F 3
  • BSAS 3
  • HOX1 3

External Ids for HOXA1 Gene

Previous HGNC Symbols for HOXA1 Gene

  • HOX1F
  • HOX1

Previous GeneCards Identifiers for HOXA1 Gene

  • GC07M026776
  • GC07M026874
  • GC07M026905
  • GC07M027099
  • GC07M027013

Summaries for HOXA1 Gene

Entrez Gene Summary for HOXA1 Gene

  • 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]

GeneCards Summary for HOXA1 Gene

HOXA1 (Homeobox A1) is a Protein Coding gene. Diseases associated with HOXA1 include athabaskan brainstem dysgenesis syndrome and hoxa1-related disorders. Among its related pathways are Developmental Biology and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. GO annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is HOXD3.

UniProtKB/Swiss-Prot for HOXA1 Gene

  • Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Acts on the anterior body structures. Seems to act in the maintenance and/or generation of hindbrain segments.

Gene Wiki entry for HOXA1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HOXA1 Gene

Genomics for HOXA1 Gene

Regulatory Elements for HOXA1 Gene

Promoters for HOXA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HOXA1 on UCSC Golden Path with GeneCards custom track

Genomic Location for HOXA1 Gene

Chromosome:
7
Start:
27,092,993 bp from pter
End:
27,096,006 bp from pter
Size:
3,014 bases
Orientation:
Minus strand

Genomic View for HOXA1 Gene

Genes around HOXA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HOXA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HOXA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HOXA1 Gene

Proteins for HOXA1 Gene

  • Protein details for HOXA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49639-HXA1_HUMAN
    Recommended name:
    Homeobox protein Hox-A1
    Protein Accession:
    P49639
    Secondary Accessions:
    • A4D184
    • B2R8U7
    • O43363

    Protein attributes for HOXA1 Gene

    Size:
    335 amino acids
    Molecular mass:
    36641 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for HOXA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HOXA1 Gene

Proteomics data for HOXA1 Gene at MOPED

Post-translational modifications for HOXA1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HOXA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for HOXA1 Gene

Domains & Families for HOXA1 Gene

Gene Families for HOXA1 Gene

Suggested Antigen Peptide Sequences for HOXA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P49639

UniProtKB/Swiss-Prot:

HXA1_HUMAN :
  • Contains 1 homeobox DNA-binding domain.
  • Belongs to the Antp homeobox family. Labial subfamily.
Domain:
  • Contains 1 homeobox DNA-binding domain.
Family:
  • Belongs to the Antp homeobox family. Labial subfamily.
genes like me logo Genes that share domains with HOXA1: view

Function for HOXA1 Gene

Molecular function for HOXA1 Gene

GENATLAS Biochemistry:
homeo box A1(1F),homologous to mouse Hox-1.6,Drosophila 1ab
UniProtKB/Swiss-Prot Function:
Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Acts on the anterior body structures. Seems to act in the maintenance and/or generation of hindbrain segments.
genes like me logo Genes that share phenotypes with HOXA1: view

Human Phenotype Ontology for HOXA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HOXA1 Gene

MGI Knock Outs for HOXA1:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for HOXA1 Gene

Localization for HOXA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HOXA1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HOXA1 Gene COMPARTMENTS Subcellular localization image for HOXA1 gene
Compartment Confidence
nucleus 5

No data available for Gene Ontology (GO) - Cellular Components for HOXA1 Gene

Pathways & Interactions for HOXA1 Gene

genes like me logo Genes that share pathways with HOXA1: view

Gene Ontology (GO) - Biological Process for HOXA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0007275 multicellular organism development TAS 7622051
GO:0007605 sensory perception of sound IDA 16155570
GO:0007634 optokinetic behavior IDA 16155570
GO:0009653 anatomical structure morphogenesis IMP 16155570
genes like me logo Genes that share ontologies with HOXA1: view

No data available for SIGNOR curated interactions for HOXA1 Gene

Drugs & Compounds for HOXA1 Gene

(1) Drugs for HOXA1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for HOXA1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with HOXA1: view

Transcripts for HOXA1 Gene

mRNA/cDNA for HOXA1 Gene

Unigene Clusters for HOXA1 Gene

Homeobox A1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HOXA1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b
SP1:
SP2:

Relevant External Links for HOXA1 Gene

GeneLoc Exon Structure for
HOXA1
ECgene alternative splicing isoforms for
HOXA1

Expression for HOXA1 Gene

mRNA expression in normal human tissues for HOXA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HOXA1 Gene

This gene is overexpressed in Bladder (x7.2) and Esophagus - Mucosa (x5.4).

SOURCE GeneReport for Unigene cluster for HOXA1 Gene Hs.67397

genes like me logo Genes that share expression patterns with HOXA1: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for HOXA1 Gene

Orthologs for HOXA1 Gene

This gene was present in the common ancestor of animals.

Orthologs for HOXA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HOXA1 35
  • 99.3 (n)
  • 98.81 (a)
HOXA1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HOXA1 36
  • 94 (a)
OneToOne
HOXA1 35
  • 92.09 (n)
  • 94.29 (a)
dog
(Canis familiaris)
Mammalia HOXA1 35
  • 92.56 (n)
  • 95 (a)
HOXA1 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hoxa1 16
Hoxa1 36
  • 93 (a)
OneToOne
Hoxa1 35
  • 90.9 (n)
  • 95.07 (a)
oppossum
(Monodelphis domestica)
Mammalia HOXA1 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HOXA1 36
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100911406 35
  • 90.65 (n)
  • 95.71 (a)
chicken
(Gallus gallus)
Aves HOXA1 35
  • 74.86 (n)
  • 74.39 (a)
HOXA1 36
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HOXA1 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hoxa1 35
  • 70.56 (n)
  • 73.54 (a)
zebrafish
(Danio rerio)
Actinopterygii hoxa1a 36
  • 57 (a)
OneToOne
-- 35
hoxa1a 35
  • 60.71 (n)
  • 62.86 (a)
fruit fly
(Drosophila melanogaster)
Insecta zen2 36
  • 21 (a)
ManyToMany
Species with no ortholog for HOXA1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HOXA1 Gene

ENSEMBL:
Gene Tree for HOXA1 (if available)
TreeFam:
Gene Tree for HOXA1 (if available)

Paralogs for HOXA1 Gene

(3) SIMAP similar genes for HOXA1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with HOXA1: view

Variants for HOXA1 Gene

Sequence variations from dbSNP and Humsavar for HOXA1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
VAR_010305 -
VAR_030576 -
rs7786554 -- 27,093,350(+) GACCC(A/G)TAAAC utr-variant-3-prime
rs41308326 -- 27,093,673(+) CCCGA(C/G)AAGAA utr-variant-3-prime
rs113343198 -- 27,092,898(+) TAAGG(A/G)CCCCA downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for HOXA1 Gene

Variant ID Type Subtype PubMed ID
nsv7393 OTHER Inversion 18451855
nsv887856 CNV Loss 21882294
dgv1094n67 CNV Gain 20364138
dgv7231n71 CNV Loss 21882294
dgv7232n71 CNV Loss 21882294
dgv7233n71 CNV Loss 21882294
dgv7234n71 CNV Loss 21882294

Variation tolerance for HOXA1 Gene

Residual Variation Intolerance Score: 33.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.56; 44.59% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HOXA1 Gene

HapMap Linkage Disequilibrium report
HOXA1
Human Gene Mutation Database (HGMD)
HOXA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HOXA1 Gene

Disorders for HOXA1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for HOXA1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
athabaskan brainstem dysgenesis syndrome
  • bosley-salih-alorainy syndrome
hoxa1-related disorders
moebius syndrome
  • mobius syndrome
autism spectrum disorder
  • pervasive development disorder
cornelia de lange syndrome 4
  • cdls4
- elite association - COSMIC cancer census association via MalaCards
Search HOXA1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HXA1_HUMAN
  • Athabaskan brainstem dysgenesis syndrome (ABDS) [MIM:601536]: Characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, and developmental delay. Some patients had swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, and cardiac outflow tract anomalies. {ECO:0000269 PubMed:16155570}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Bosley-Salih-Alorainy syndrome (BSAS) [MIM:601536]: A disease characterized by horizontal gaze abnormalities, deafness, facial weakness, vascular malformations of the internal carotid arteries and cardiac outflow trac. Some patients manifest mental retardation and autism spectrum disorder. Affected individuals do not suffer from central hypoventilation. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for HOXA1

Genetic Association Database (GAD)
HOXA1
Human Genome Epidemiology (HuGE) Navigator
HOXA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HOXA1
genes like me logo Genes that share disorders with HOXA1: view

No data available for Genatlas for HOXA1 Gene

Publications for HOXA1 Gene

  1. Discovery of allelic variants of HOXA1 and HOXB1: genetic susceptibility to autism spectrum disorders. (PMID: 11091361) Ingram J.L. … Rodier P.M. (Teratology 2000) 3 4 23 67
  2. HOXA1 mutations are not a common cause of MAPbius syndrome. (PMID: 20227628) Rankin J.K. … Engle E.C. (J AAPOS 2010) 3 23
  3. HOXA1 A218G polymorphism is associated with smaller cerebellar volume in healthy humans. (PMID: 19018953) Canu E. … Frisoni G.B. (J Neuroimaging 2009) 3 23
  4. Polymorphisms of coding trinucleotide repeats of homeogenes in neurodevelopmental psychiatric disorders. (PMID: 19018235) Laroche F. … Robel L. (Psychiatr. Genet. 2008) 3 23
  5. Transcriptional activation of signal transducer and activator of transcription (STAT) 3 and STAT5B partially mediate homeobox A1-stimulated oncogenic transformation of the immortalized human mammary epithelial cell. (PMID: 18276758) Mohankumar K.M. … Lobie P.E. (Endocrinology 2008) 3 23

Products for HOXA1 Gene

Sources for HOXA1 Gene

Back to Top

Content