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  6. Homeobox protein Hox-A1

Tbio Homeobox protein Hox-A1

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.

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]

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Property Summary

NCBI Gene PubMed Count 67
PubMed Score 92.85
PubTator Score 94.80

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (4)

Expression

  Differential Expression (7)

Disease log2 FC p
glioblastoma 1.100 2.7e-02
non-small cell lung cancer 1.486 2.8e-11
interstitial cystitis -2.100 1.1e-03
cystic fibrosis 1.300 6.5e-04
adult high grade glioma 1.900 4.9e-05
posterior fossa group A ependymoma 1.500 2.2e-07
Breast cancer -1.100 1.3e-08

Synonym

Accession P49639 A4D184 B2R8U7 O43363
Symbols BSAS
HOX1
HOX1F

Gene

HOXA1

PANTHER Protein Class (3)

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

 UniProt Keyword (11)

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 GO Function (1)

 GO Component (1)

 GO Process (18)

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 Compartment GO Term (10)

 OMIM Phenotype (2)

 MGI Phenotype (18)

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 HCA RNA Cell Line (53)

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Pathway (6)

Protein-protein Interaction (1)

ZNF703  

Gene RIF (54)

PMID Text
26791264 Data indicated that HOXA1 and CCND1 mRNA and protein expression were higher in gastric cancer (GC) tissues, that a significant correlation was found between their expression, and they both may serve as a novel prognostic biomarker for GC.
26707824 Studied HOTAIR in chemoresistance of SCLC and possible molecular mechanism. Knockdown of HOTAIR was carried out in SCLC multidrug-resistant cell lines; found depletion of HOTAIR reduced HOXA1 methylation by decreasing DNMT1 & DNMT3b expression.
26417931 MicroRNA-99a inhibits tumor aggressive phenotypes through regulating HOXA1 in breast cancer cells.
26135141 our findings suggest that HOXA1 is involved in the regulation of prostate cancer progression, including cell growth, migration, invasion and metastasis
25691658 YAP regulates the expression of HOXA1 and HOXC13 in human keratinocytes.
25472883 HIV-1 Tat specifically associates with HOXA1 promoter to upregulate HOXA1 expression in T cells
25148682 ACK1 interacts with KDM3A to regulate the mammary tumor oncogene HOXA1.
25069511 Analysis indicates that the genes BIRC5, HOXA1 and RARB are critical targets that play an important regulatory role in cervical cancer pathogenesis.
24878468 In a Middle Eastern population, HOXA1 is not likely a common cause of non-syndromic deafness.
24789793 The results demonstrated that miR-181c transcription is suppressed and HOXA1 expression is enhanced in hepatitis C virus-infected hepatocytes.
24559685 HOXA1-mediated SCLC chemoresistance is under the regulation of miR-100. HOXA1 may be a prognostic predictor and potential therapeutic target in human SCLC
24312487 MicroRNA-99 family members suppress Homeobox A1 expression in epithelial cells.
23435427 validation data and mechanistic insights suggest that patients whose primary tumors express HOXA1 are among a high-risk metastasis subgroup that should be considered for anti-TGFbeta therapy in adjuvant settings
23321646 Data indicate that MiR-10a has a role in megakaryocyte differentiation of stem cells via HOXA1 transcription factor targeting.
22950449 The findings in this patient raise the possibility that PTPRN2 may be active during early development of the human brainstem and that its overexpression may cause bilateral Duane retraction syndrome as occurs in patients with homozygous HOXA1 mutations.
22864671 Overexpression of HOXA1 is associated with hepatocellular carcinoma.
22498108 HOXA1 may contribute to oral carcinogenesis by increasing tumor cell proliferation, and suggest that HOXA1 expression might be helpful as a prognostic marker for patients with oral squamous cell carcinoma.
22407312 Loss of HOXA1 is associated with pancreatic cancer.
22020899 study demonstrates KDM3A is overexpressed in various types of cancer and directly activates transcription of HOXA1 through demethylation of histone H3K9 by binding to its promoter region
21980499 HOXA1 A218G and HOXB1 nINS/INS variants may not contribute significantly to autism spectrum disorders risk
21957483 the importance of the Hox-Pbx interaction for the oncogenic activity of Hoxa1
21106538 the combination of miR-377 and miR-217 help regulate HO-1 protein expression in the presence of hemin
20678259 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20227628 HOXA1 mutations are not a common cause of sporadic Mobius syndrome in the general population
19598235 HOXA1 is associated with autistic traits, empathy, and Asperger syndrome.
19598235 Observational study of gene-disease association. (HuGE Navigator)
19086053 Observational study of gene-disease association. (HuGE Navigator)
19018953 These data suggest that the HOXA1 A218G polymorphism may affect cerebellar development in humans.
19018953 Observational study of gene-disease association. (HuGE Navigator)
19018235 Observational study of gene-disease association. (HuGE Navigator)
18412118 study describes nine previously unreported individuals from six families who have homozygous mutations of HOXA1 and either the Bosley-Salih-Alorainy syndrome (BSAS) or the Athabascan brainstem dysgenesis syndrome (ABDS)
18276758 HOXA1 partially mediates oncogenic transformation of the immortalized human mammary epithelial cell through modulation of the STAT3 and STAT5B pathways.
17967182 Results identified HOXA1 loci showing significant differential DNA methylation levels between tumor and non-tumor lung and highly significant hypermethylation in adenocarcinoma.
17875913 This report extends the Bosley-Salih-Alorainy syndrome phenotype and documents the clinical variability resulting from identical HOXA1 mutations within an isolated ethnic population
17213808 Modulation of the p44/42 MAP kinase pathway is one mechanism by which HOXA1 mediates oncogenic transformation of the human mammary epithelial cell.
17171652 Observational study of gene-disease association. (HuGE Navigator)
17171652 HOXA1 A218G alleles significantly influence head growth rates, but not final head size, in normal human development.
17167333 Variation not associated with autism in an Indian population.
17131398 Expanded polyhistidine repeats in HOXA1 enhance aggregation and cell death, resulting in impaired neuronal differentiation and cooperative binding with PBX1.
16597639 Study reveals the preferential expression of HOXA1 by metaphase II oocytes.
16528738 The HOXA1-related syndrome phenotype is variable; HOXA1 mutations are a rare cause of isolated Duane anomaly.
16373333 HOXA1 is a downstream effector of E-cadherin-directed signaling required for anchorage-independent proliferation of mammary carcinoma cells.
16168961 HOXA1 protein with polyhistidine tract expansions misfold, aggregate, and have a toxic effect on cell.
16155570 Mutations in HOXA1 resulting in abnormalities, deafness, facial weakness, hypoventilation, vascular malformations of the internal carotid arteries and cardiac outflow tract, mental retardation and autism spectrum disorder were identified.
14960295 Observational study of gene-disease association. (HuGE Navigator)
14960295 The HOXA1 A218G polymorphism explains approximately 5% of the variance in the head circumference of autistic patients and represents to our knowledge the first known gene variant providing sizable contributions to cranial morphology.
12908836 Observational study of gene-disease association. (HuGE Navigator)
12482855 HOXA1 is a human mammary epithelial oncogene with aggressive in vivo tumor formation
12349873 hoxa1 protein plays a role in the development of infantile autism
12210285 Observational study of genotype prevalence. (HuGE Navigator)
12210285 No evidence for linkage of liability to autism to HOXA1 in a sample from the CPEA network
11840501 It is unlikely that HoxA1 plays a significant role in the genetic predisposition to autism.
10529419 the effects of mutations in Hoxa1 and HoxA2 in the development of neural crest-derived structures in mice.
9463349 In mice, establishing Hoxb1 in rhombomere 4 is dependent on the early activation of Hoxa1 and Hoxb1 and that together both are essential for patterning the r4 territory.

AA Sequence 

MDNARMNSFLEYPILSSGDSGTCSARAYPSDHRITTFQSCAVSANSCGGDDRFLVGRGVQIGSPHHHHHH      1 - 70
HHHHPQPATYQTSGNLGVSYSHSSCGPSYGSQNFSAPYSPYALNQEADVSGGYPQCAPAVYSGNLSSPMV     71 - 140
QHHHHHQGYAGGAVGSPQYIHHSYGQEHQSLALATYNNSLSPLHASHQEACRSPASETSSPAQTFDWMKV    141 - 210
KRNPPKTGKVGEYGYLGQPNAVRTNFTTKQLTELEKEFHFNKYLTRARRVEIAASLQLNETQVKIWFQNR    211 - 280
RMKQKKREKEGLLPISPATPPGNDEKAEESSEKSSSSPCVPSPGSSTSDTLTTSH                   281 - 335
//

Text Mined References (68)

PMID Year Title
26791264 2016 Elevated HOXA1 expression correlates with accelerated tumor cell proliferation and poor prognosis in gastric cancer partly via cyclin D1.
26707824 2016 Long noncoding RNA-HOTAIR affects chemoresistance by regulating HOXA1 methylation in small cell lung cancer cells.
26417931 2015 MicroRNA-99a inhibits tumor aggressive phenotypes through regulating HOXA1 in breast cancer cells.
26135141 2015 HOXA1 enhances the cell proliferation, invasion and metastasis of prostate cancer cells.
25691658 2015 YAP regulates the expression of Hoxa1 and Hoxc13 in mouse and human oral and skin epithelial tissues.
25416956 2014 A proteome-scale map of the human interactome network.
25148682 2014 ACK1 tyrosine kinase interacts with histone demethylase KDM3A to regulate the mammary tumor oncogene HOXA1.
25069511 2014 Identification of critical microRNA gene targets in cervical cancer using network properties.
24878468 2014 HOXA1 Mutations are Not Commonly Associated with Non-Syndromic Deafness.
24789793 2014 Transcriptional suppression of miR-181c by hepatitis C virus enhances homeobox A1 expression.
24559685 2014 Downregulation of HOXA1 gene affects small cell lung cancer cell survival and chemoresistance under the regulation of miR-100.
24312487 2013 MicroRNA-99 family members suppress Homeobox A1 expression in epithelial cells.
23455924 2013 A Y2H-seq approach defines the human protein methyltransferase interactome.
23435427 2014 HOXA1 drives melanoma tumor growth and metastasis and elicits an invasion gene expression signature that prognosticates clinical outcome.
23321646 2013 Megakaryocytic differentiation of CD133+ hematopoietic stem cells by down-regulation of microRNA-10a.
23088713 2012 Protein interactions of the transcription factor Hoxa1.
22950449 Partial chromosome 7 duplication with a phenotype mimicking the HOXA1 spectrum disorder.
22864671 2012 Overexpression of HOXA1 correlates with poor prognosis in patients with hepatocellular carcinoma.
22498108 2012 HOXA1 is overexpressed in oral squamous cell carcinomas and its expression is correlated with poor prognosis.
22407312 2012 MicroRNA-10a is overexpressed in human pancreatic cancer and involved in its invasiveness partially via suppression of the HOXA1 gene.
22020899 2012 The JmjC domain-containing histone demethylase KDM3A is a positive regulator of the G1/S transition in cancer cells via transcriptional regulation of the HOXA1 gene.
21980499 2011 An integrated meta-analysis of two variants in HOXA1/HOXB1 and their effect on the risk of autism spectrum disorders.
21957483 2011 The Pbx interaction motif of Hoxa1 is essential for its oncogenic activity.
21516116 2011 Next-generation sequencing to generate interactome datasets.
21106538 2011 Regulation of heme oxygenase-1 protein expression by miR-377 in combination with miR-217.
20678259 2010 Candidate gene study of HOXB1 in autism spectrum disorder.
20227628 2010 HOXA1 mutations are not a common cause of Möbius syndrome.
19598235 2009 Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome.
19086053 2009 Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.
19018953 2009 HOXA1 A218G polymorphism is associated with smaller cerebellar volume in healthy humans.
19018235 2008 Polymorphisms of coding trinucleotide repeats of homeogenes in neurodevelopmental psychiatric disorders.
18482256 2009 Protein microarray analysis identifies human cellular prion protein interactors.
18412118 2008 The clinical spectrum of homozygous HOXA1 mutations.
18276758 2008 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.
17967182 2007 Identification of a panel of sensitive and specific DNA methylation markers for lung adenocarcinoma.
17875913 2007 Clinical characterization of the HOXA1 syndrome BSAS variant.
17213808 2007 HOXA1-stimulated oncogenicity is mediated by selective upregulation of components of the p44/42 MAP kinase pathway in human mammary carcinoma cells.
17171652 2007 HOXA1 gene variants influence head growth rates in humans.
17167333 2007 Lack of association of HOXA1 and HOXB1 variants with autism in the Indian population.
17131398 2007 Enhanced autophagic cell death in expanded polyhistidine variants of HOXA1 reduces PBX1-coupled transcriptional activity and inhibits neuronal differentiation.
16597639 2006 cDNA cloning and expression of the human NOBOX gene in oocytes and ovarian follicles.
16528738 2006 HOXA1 mutations are not a common cause of Duane anomaly.
16373333 2006 HOXA1 is required for E-cadherin-dependent anchorage-independent survival of human mammary carcinoma cells.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
16168961 2005 Polyhistidine tract expansions in HOXA1 result in intranuclear aggregation and increased cell death.
16155570 2005 Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14960295 2004 Association between the HOXA1 A218G polymorphism and increased head circumference in patients with autism.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12908836 2003 The HOXA1 A218G polymorphism and autism: lack of association in white and black patients from the South Carolina Autism Project.
12853948 2003 The DNA sequence of human chromosome 7.
12690205 2003 Human chromosome 7: DNA sequence and biology.
12482855 2003 Human growth hormone-regulated HOXA1 is a human mammary epithelial oncogene.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12349873 2002 Converging evidence for brain stem injury in autism.
12210285 2002 No evidence for linkage of liability to autism to HOXA1 in a sample from the CPEA network.
11857506 2002 Complete mutation analysis panel of the 39 human HOX genes.
11840501 2002 Lack of association between HoxA1 and HoxB1 gene variants and autism in 110 multiplex families.
11091361 2000 Discovery of allelic variants of HOXA1 and HOXB1: genetic susceptibility to autism spectrum disorders.
11070089 2000 Altered HOX and WNT7A expression in human lung cancer.
10529419 1999 Compensatory defects associated with mutations in Hoxa1 restore normal palatogenesis to Hoxa2 mutants.
9582372 1998 A conserved C-terminal domain in PBX increases DNA binding by the PBX homeodomain and is not a primary site of contact for the YPWM motif of HOXA1.
9463349 1998 Genetic interactions between Hoxa1 and Hoxb1 reveal new roles in regulation of early hindbrain patterning.
8646877 1996 Fine mapping of human HOX gene clusters.
7622051 1995 Structure and function of the HOX A1 human homeobox gene cDNA.
7488013 1995 Retinoic acid induces three newly cloned HOXA1 transcripts in MCF7 breast cancer cells.
1973146 1990 Nomenclature for human homeobox genes.