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HOXA1 Gene

protein-coding   GIFtS: 63
GCID: GC07M027099

Homeobox A1

(Previous name: homeo box A1)
(Previous symbols: HOX1F, HOX1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Homeobox A11 2     Homeobox 1F2
HOX1F1 2 3 5     Homeobox Protein Hox-A12
HOX11 2     Hox 1.6-Like Protein2
Homeo Box A11 2     HOX A1 Homeodomain Protein2
Homeobox Protein Hox-1F2 3     Lab-Like Protein2
BSAS2 5     

External Ids:    HGNC: 50991   Entrez Gene: 31982   Ensembl: ENSG000001059917   OMIM: 1429555   UniProtKB: P496393   

Export aliases for HOXA1 gene to outside databases

Previous GC identifers: GC07M026776 GC07M026874 GC07M026905 GC07M027013


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 tethered spinal cord syndrome, and athabaskan brainstem dysgenesis syndrome. GO annotations related to this gene include sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is GSX1.

UniProtKB/Swiss-Prot: HXA1_HUMAN, P49639
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

Gene Wiki entry for HOXA1 (Homeobox A1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000007.14  NC_018918.2  NT_007819.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the HOXA1 gene promoter:
         RelA   Nkx2-5   NF-kappaB   C/EBPalpha   GATA-2   AREB6   SRY   HSF2   Sox9   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHOXA1 promoter sequence
   Search Chromatin IP Primers for HOXA1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HOXA1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7p15.3   Ensembl cytogenetic band:  7p15.2   HGNC cytogenetic band: 7p15.2

HOXA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HOXA1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M027099:  view genomic region     (about GC identifiers)

Start:
27,132,612 bp from pter      End:
27,135,625 bp from pter
Size:
3,014 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 27,183,765-27,186,778     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: HXA1_HUMAN, P49639 (See protein sequence)
Recommended Name: Homeobox protein Hox-A1  
Size: 335 amino acids; 36641 Da
Secondary accessions: A4D184 B2R8U7 O43363
Alternative splicing: 3 isoforms:  P49639-1   P49639-2   P49639-3   (Lacks the homeobox domain)

Explore the universe of human proteins at neXtProt for HOXA1: NX_P49639

Explore proteomics data for HOXA1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See HOXA1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_005513.1  NP_705873.2  

    ENSEMBL proteins: 
     ENSP00000343246   ENSP00000347851  

    HOXA1 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    HOXL: Homeoboxes / ANTP class : HOXL subclass

    4 InterPro protein domains:
     IPR020479 Homeobox_metazoa
     IPR017970 Homeobox_CS
     IPR001356 Homeobox_dom
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry P49639

    ProtoNet protein and cluster: P49639

    2 Blocks protein domains:
    IPB000047 Lambda and other repressor helix-turn-helix signature
    IPB001827 Homeobox protein


    UniProtKB/Swiss-Prot: HXA1_HUMAN, P49639
    Similarity: Belongs to the Antp homeobox family. Labial subfamily
    Similarity: Contains 1 homeobox DNA-binding domain


    HOXA1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HXA1_HUMAN, P49639
    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

         Genatlas biochemistry entry for HOXA1:
    homeo box A1(1F),homologous to mouse Hox-1.6,Drosophila 1ab

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding IPI18482256
    GO:0043565sequence-specific DNA binding IEA--
         
    HOXA1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for HOXA1:
     Synthetic lethal with c-Myc af 

         Selected MGI mutant phenotypes (inferred from 13 alleles(MGI details for Hoxa1) (see all 18):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  endocrine/exocrine gland  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism 
     immune system  mortality/aging  muscle  nervous system  no phenotypic analysis 

    HOXA1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for HOXA1: Hoxa1tm2Ipc Hoxa1tm1Ipc Hoxa1tm2Mrc Hoxa1tm1Mrc Hoxa1tm8.2Mrc

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HOXA1
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    miRNA
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    miRTarBase miRNAs that target HOXA1:
    hsa-mir-10a-5p (MIRT001140), hsa-mir-210-3p (MIRT000152)

    Block miRNA regulation of human, mouse, rat HOXA1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HOXA1 (see all 24):
    hsa-miR-181c hsa-miR-10b hsa-let-7a-2* hsa-miR-219-5p hsa-miR-216b hsa-miR-218 hsa-miR-508-3p hsa-let-7g*
    SwitchGear 3'UTR luciferase reporter plasmidHOXA1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for HOXA1
    Predesigned siRNA for gene silencing in human, mouse, rat HOXA1

    Gene Editing
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    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HOXA1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    HXA1_HUMAN, P49639: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    HOXA1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for HOXA1 About    
    See pathways by source

    SuperPathContained pathways About
    1Neural Crest Differentiation
    Neural Crest Differentiation


    1 BioSystems Pathway for HOXA1
        Neural Crest Differentiation



        Pathway & Disease-focused RT2 Profiler PCR Arrays including HOXA1: 
              Stem Cell Transcription Factors in human mouse rat
              Homeobox (HOX) Genes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for HOXA1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for HOXA1 (P496391, 2, 3 ENSP000003432464) via UniProtKB, MINT, STRING, and/or I2D (see all 37)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRAPPC6AO758652, 3, ENSP000000062754MINT-67909 I2D: score=5 STRING: ENSP00000006275
    EFEMP2O959672, 3, ENSP000003099534MINT-67847 I2D: score=4 STRING: ENSP00000309953
    LPXNO607112, 3MINT-67951 I2D: score=4 
    PRNPP041561, 3EBI-740785,EBI-977302 I2D: score=1 
    CHIC2Q9UKJ52, 3, ENSP000002639214MINT-66890 I2D: score=5 STRING: ENSP00000263921
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 32):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006357regulation of transcription from RNA polymerase II promoter ----
    GO:0007275multicellular organismal development TAS7622051
    GO:0007399nervous system development ----

    HOXA1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HOXA1 (HXA1)

    3 Novoseek inferred chemical compound relationships for HOXA1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinoic acid 60.9 29 15722554 (3), 7488013 (2), 18512762 (2), 8105479 (2) (see all 13)
    retinoid 21.6 1 17663992 (1), 8838863 (1)
    histidine 5.1 6 17131398 (4), 16168961 (2)



    HOXA1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for HOXA1 gene (2 alternative transcripts): 
    NM_005522.4  NM_153620.2  

    Unigene Cluster for HOXA1:

    Homeobox A1
    Hs.67397  [show with all ESTs]
    Unigene Representative Sequence: S79869
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000343060(uc003syd.3 uc003sye.3) ENST00000355633
    miRNA
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    Block miRNA regulation of human, mouse, rat HOXA1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HOXA1 (see all 24):
    hsa-miR-181c hsa-miR-10b hsa-let-7a-2* hsa-miR-219-5p hsa-miR-216b hsa-miR-218 hsa-miR-508-3p hsa-let-7g*
    SwitchGear 3'UTR luciferase reporter plasmidHOXA1 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat HOXA1
      QuantiFast Probe-based Assays in human, mouse, rat HOXA1

    Additional mRNA sequence: 

    AK308067.1 AK313514.1 BC032547.2 S69025.1 S79869.1 S79871.1 S79910.1 U10421.1 
    U37431.1 

    4 DOTS entries:

    DT.87046346  DT.92424753  DT.100754664  DT.312508 

    Selected AceView cDNA sequences (see all 38):

    NM_005522 U10421 BC032547 NM_153620 BF059441 AU128573 AU127876 AU126484 
    AU126166 AU128846 S79869 AU132057 S79871 BM838150 AU128022 U37431 
    AU128985 S79910 BM462913 AU151383 BE896180 AU150283 BF028399 AA173231 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for HOXA1    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b
    SP1:                        
    SP2:                        


    ECgene alternative splicing isoforms for HOXA1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    HOXA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTGTGAGTT
    HOXA1 Expression
    About this image


    HOXA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Adipose (Muscoskeletal System)    fully expand to see all 4 entries
             Lumbar Brown Adipocyte Cells Lumbar Brown Adipose Depot
     
     Somite (Muscoskeletal System)    fully expand to see all 2 entries
             Muscle Progenitor Cells Thoracic Ventrolateral Dermomyotome Lip
             Somite
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Line H9 (Naive)
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Peripheral Nervous System (Nervous System)
             Schwann Precursor Cells Peripheral Nerve Domain
    HOXA1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HOXA1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.67397
        Pathway & Disease-focused RT2 Profiler PCR Arrays including HOXA1: 
              Stem Cell Transcription Factors in human mouse rat
              Homeobox (HOX) Genes in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat HOXA1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HOXA1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for HOXA1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hoxa11 , 5 homeobox A11, 5 90.9(n)1
    95.07(a)1
      6 (25.40 cM)5
    153941  NM_010449.41  NP_034579.31 
     521555905 
    chicken
    (Gallus gallus)
    Aves HOXA11 homeobox A1 74.86(n)
    74.39(a)
      374051  XM_003640697.2  XP_003640745.1 
    lizard
    (Anolis carolinensis)
    Reptilia HOXA16
    homeobox A1
    68(a)
    1 ↔ 1
    GL343275.1(1540176-1545152)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC044984.12   -- 75.35(n)    BC044984.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AJ306430.12   -- 78.67(n)   58051  AJ306430.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta zen26
    zerknullt-related
    21(a)
    many ↔ many
    3R(2568854-2569862)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HOXA1 gene
    GSX12  HOXA32  MEOX12  EVX22  HOXB12  HOXB32  HOXD12  HOXA22  
    GSX22  EVX12  HOXB22  MEOX22  PDX12  HOXD32  
    3 SIMAP similar genes for HOXA1 using alignment to 3 protein entries:     HXA1_HUMAN (see all proteins):
    HOXB1    HLX    HHEX

    HOXA1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for HOXA1 (see all 27)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1420466471,2
    --27098020(+) ACCTGG/TAAGTA 2 -- ds50010--------
    rs1458963381,2
    --27098112(+) ATGACA/GGCTAT 2 -- ds50010--------
    rs174652891,2
    C,F,H--27098250(+) AAACAC/GTCCAT 2 -- ds50016Minor allele frequency- G:0.08NS EA WA 524
    rs1133431981,2
    C,F--27098323(+) TAAGGG/ACCCCA 2 -- ds50011Minor allele frequency- A:0.50WA 2
    rs174652951,2
    C,F,H--27098383(+) TCTTGG/ATTCAC 2 -- ds50014Minor allele frequency- A:0.01EA NS WA 392
    rs1147968271,2
    C,F--27098520(+) CAAAAA/GTAAAT 2 -- ut311Minor allele frequency- G:0.02WA 118
    rs1861119021,2
    --27098557(+) TTTTTG/TTCCAT 2 -- ut310--------
    rs1488277471,2
    --27098637(+) ATATTC/TACCAC 2 -- ut310--------
    rs77865541,2
    C,F,H--27098775(+) GACCCG/ATAAAC 2 -- ut31 ese310Minor allele frequency- A:0.01EA NS NA WA 1246
    rs174490101,2
    C,F,H--27098806(+) TCCAGA/C/GATCTC 4 -- ut31 ese34NS EA 400

    HapMap Linkage Disequilibrium report for HOXA1 (27132612 - 27135625 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for HOXA1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv887856CNV Loss21882294
    dgv7234n71CNV Loss21882294
    dgv7233n71CNV Loss21882294
    dgv7232n71CNV Loss21882294
    dgv7231n71CNV Loss21882294
    dgv1094n67CNV Gain20364138
    nsv7393OTHER Inversion18451855

    Human Gene Mutation Database (HGMD): HOXA1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HOXA1
    DNA2.0 Custom Variant and Variant Library Synthesis for HOXA1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 142955   
    OMIM disorders: 601536  
    UniProtKB/Swiss-Prot: HXA1_HUMAN, P49639
  • 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. 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

  • Selected diseases for HOXA1 (see all 32):    
    About MalaCards
    tethered spinal cord syndrome    athabaskan brainstem dysgenesis syndrome    hantavirus pulmonary syndrome    hoxa1-related disorders
    teratocarcinoma    duane retraction syndrome    cutaneous malignant melanoma    pharyngitis
    autism spectrum disorder    autistic disorder    aphasia    asperger syndrome
    sensorineural hearing loss    pregnancy loss    lung adenocarcinoma    oral squamous cell carcinoma
    was-related disorders    cervicitis    mental retardation    cervical cancer

    2 diseases from the University of Copenhagen DISEASES database for HOXA1:
    Autistic disorder     Teratocarcinoma

    HOXA1 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for HOXA1 gene (see all 14)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carcinoma embryonal 58.1 2 17663992 (2), 9438427 (1), 8105479 (1)
    teratocarcinoma 54.3 3 10942599 (1), 17663992 (1)
    autistic 54.1 2 17171652 (1), 12238024 (1)
    mental retardation 35 1 19018235 (1)
    congenital malformation 19.6 2 7956823 (1), 18412118 (1)
    cervical carcinoma 18.5 1 12824890 (1)
    genetic susceptibility 8.91 2 11091361 (1), 11840501 (1)
    leukemia 0 1 15722554 (1)
    carcinoma squamous cell 0 3 16525661 (2)
    breast cancer 0 11 8670198 (4), 7488013 (3)

    Genetic Association Database (GAD): HOXA1
    Human Genome Epidemiology (HuGE) Navigator: HOXA1 (10 documents)

    Export disorders for HOXA1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for HOXA1 gene, integrated from 10 sources (see all 107):
    (articles sorted by number of sources associating them with HOXA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Discovery of allelic variants of HOXA1 and HOXB1: genetic susceptibility to autism spectrum disorders. (PubMed id 11091361)1, 2, 9 Ingram J.L....Rodier P.M. (Teratology 2000)
    2. Lack of association between HoxA1 and HoxB1 gene variants and autism in 110 multiplex families. (PubMed id 11840501)1, 4, 9 Li J....Myers R.M. (Am. J. Med. Genet. 2002)
    3. Retinoic acid induces three newly cloned HOXA1 transcripts in MCF7 breast cancer cells. (PubMed id 7488013)1, 2, 9 Chariot A.... Castronovo V. (Biochem. Biophys. Res. Commun. 1995)
    4. Polymorphisms of coding trinucleotide repeats of homeogenes in neurodevelopmental psychiatric disorders. (PubMed id 19018235)1, 4, 9 Laroche F....Robel L. (Psychiatr. Genet. 2008)
    5. HOXA1 gene variants influence head growth rates in humans. (PubMed id 17171652)1, 4, 9 Muscarella L.A....Persico A.M. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2007)
    6. Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development. (PubMed id 16155570)1, 2, 9 Tischfield M.A....Engle E.C. (Nat. Genet. 2005)
    7. HOXA1 A218G polymorphism is associated with smaller cerebellar volume in healthy humans. (PubMed id 19018953)1, 4, 9 Canu E....Frisoni G.B. (J Neuroimaging 2009)
    8. Association between the HOXA1 A218G polymorphism and increased head circumference in patients with autism. (PubMed id 14960295)1, 4, 9 Conciatori M....Persico A.M. (Biol. Psychiatry 2004)
    9. The HOXA1 A218G polymorphism and autism: lack of association in white and black patients from the South Carolina Autism Project. (PubMed id 12908836)1, 4, 9 Collins J.S....Michaelis R.C. (J Autism Dev Disord 2003)
    10. Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome. (PubMed id 19598235)1, 4 Chakrabarti B....Baron-Cohen S. (Autism Res 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3198 HGNC: 5099 AceView: HOXA1 Ensembl:ENSG00000105991 euGenes: HUgn3198
    ECgene: HOXA1 H-InvDB: HOXA1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for HOXA1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=HOXA1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HOXA1 gene:
    Search GeneIP for patents involving HOXA1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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