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PAX1 Gene

protein-coding   GIFtS: 55
GCID: GC20P021634

Paired Box 1

(Previous name: paired box gene 1)
  See PAX1-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
Paired Box 11 2     Paired Box Protein Pax-12
Paired Box Gene 11 2     Paired Domain Gene HuP482
HUP482 3     HuP483
OFC22 5     

External Ids:    HGNC: 86151   Entrez Gene: 50752   Ensembl: ENSG000001258137   OMIM: 1674115   UniProtKB: P158633   

Export aliases for PAX1 gene to outside databases

Previous GC identifers: GC20P021675 GC20P021682


(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 PAX1 Gene:
This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically
contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal
development. This gene plays a role in pattern formation during embryogenesis and may be essential for
development of the vertebral column. This gene is silenced by methylation in ovarian and cervical cancers and may
be a tumor suppressor gene. Mutations in this gene are also associated with vertebral malformations. (provided by
RefSeq, Mar 2012)

GeneCards Summary for PAX1 Gene:
PAX1 (paired box 1) is a protein-coding gene. Diseases associated with PAX1 include otofaciocervical syndrome 2, and diaphanospondylodysostosis. An important paralog of this gene is PAX7.

UniProtKB/Swiss-Prot: PAX1_HUMAN, P15863
Function: This protein is a transcriptional activator. It may play a role in the formation of segmented structures
of the embryo. May play an important role in the normal development of the vertebral column (By similarity)

Gene Wiki entry for PAX1 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 at NCBI GenBank:
NC_000020.10  NC_018931.2  NT_011387.9  
Regulatory elements:
   Regulatory transcription factor binding sites in the PAX1 gene promoter:
         Max1   STAT1   MAZR   STAT4   STAT1beta   STAT1alpha   GATA-2   STAT2   STAT3   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPAX1 promoter sequence
   Search Chromatin IP Primers for PAX1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PAX1


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

Entrez Gene cytogenetic band: 20p11.2   Ensembl cytogenetic band:  20p11.22   HGNC cytogenetic band: 20p11.22

PAX1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PAX1 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P021634:  view genomic region     (about GC identifiers)

Start:
21,686,297 bp from pter      End:
21,696,620 bp from pter
Size:
10,324 bases      Orientation:
plus strand

(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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PAX1_HUMAN, P15863 (See protein sequence)
Recommended Name: Paired box protein Pax-1  
Size: 534 amino acids; 55499 Da
Sequence caution: Sequence=AAH69134.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAU21037.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B4E0D6 Q642X9 Q6NTC0 Q9Y558
Alternative splicing: 3 isoforms:  P15863-1   P15863-2   P15863-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PAX1: NX_P15863

Explore proteomics data for PAX1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PAX1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001244025.1  NP_006183.2  

    ENSEMBL proteins: 
     ENSP00000381499   ENSP00000410355  

    PAX1 Human Recombinant Protein Products:

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    Novus Biologicals PAX1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PAX1

     
    Search eBioscience for Proteins for PAX1 

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    PAX1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PAX1
    Cloud-Clone Corp. CLIAs for PAX1
    Search eBioscience for ELISAs for PAX1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PAX: Paired boxes

    3 InterPro protein domains:
     IPR001523 Paired_dom
     IPR011991 WHTH_DNA-bd_dom
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry P15863

    ProtoNet protein and cluster: P15863

    1 Blocks protein domain: IPB001523 Paired box protein

    UniProtKB/Swiss-Prot: PAX1_HUMAN, P15863
    Similarity: Contains 1 paired domain


    Find genes that share domains with PAX1           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PAX1_HUMAN, P15863
    Function: This protein is a transcriptional activator. It may play a role in the formation of segmented structures
    of the embryo. May play an important role in the normal development of the vertebral column (By similarity)

         Genatlas biochemistry entry for PAX1:
    paired box (DNA binding) containing protein 1,with homeo domain,expressed in the sclerotome,controlling
    chondrogenesis through SHH signaling,involved in the development of vertebral column,homologous to undulated

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
         
    Find genes that share ontologies with PAX1           About GenesLikeMe


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 9 alleles(MGI details for Pax1) (see all 18):
     behavior/neurological  cardiovascular system  cellular  craniofacial  embryogenesis 
     growth/size/body  hematopoietic system  immune system  integument  limbs/digits/tail 
     mortality/aging  muscle  nervous system  normal  pigmentation 

    Find genes that share phenotypes with PAX1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Pax1tm1Neu for PAX1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PAX1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PAX1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PAX1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PAX1

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat PAX1 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate PAX1:
    hsa-miR-7-1* hsa-miR-7-2* hsa-miR-628-5p
    SwitchGear 3'UTR luciferase reporter plasmidPAX1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PAX1
    Predesigned siRNA for gene silencing in human, mouse, rat PAX1

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for PAX1

    Clone
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    OriGene clones in human, mouse for PAX1 (see all 9)
    OriGene ORF clones in mouse, rat for PAX1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PAX1 (NM_006192)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PAX1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PAX1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for PAX1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PAX1


    (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
    PAX1_HUMAN, P15863: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    extracellular1

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

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

    Find genes that share ontologies with PAX1           About GenesLikeMe


    (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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        Pathway & Disease-focused RT2 Profiler PCR Arrays including PAX1: 
              Stem Cell Transcription Factors in human mouse rat
              T-cell & B-cell Activation in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for PAX1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for PAX1 (P158632, 3 ENSP000003814994) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MEOX1P502212, 3, ENSP000003216844MINT-17255 MINT-17254 I2D: score=5 STRING: ENSP00000321684
    MEOX2P502223, ENSP000002620414I2D: score=4 STRING: ENSP00000262041
    ODC1ENSP000002341114STRING: ENSP00000234111
    ADCENSP000002945174STRING: ENSP00000294517
    AZIN1ENSP000003215074STRING: ENSP00000321507
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development TAS9671740
    GO:0001756somitogenesis IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006366transcription from RNA polymerase II promoter TAS1358810
    GO:0007389pattern specification process ----

    Find genes that share ontologies with PAX1           About GenesLikeMe



    (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 PAX1



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PAX1 gene (2 alternative transcripts): 
    NM_001257096.1  NM_006192.4  

    Unigene Cluster for PAX1:

    Paired box 1
    Hs.122310  [show with all ESTs]
    Unigene Representative Sequence: NM_001257096
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000398485(uc010zsl.2 uc002wsj.2) ENST00000460221 ENST00000444366(uc010zsm.2)
    ENST00000485038
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat PAX1 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate PAX1:
    hsa-miR-7-1* hsa-miR-7-2* hsa-miR-628-5p
    SwitchGear 3'UTR luciferase reporter plasmidPAX1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for PAX1
    Predesigned siRNA for gene silencing in human, mouse, rat PAX1
    Clone
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    OriGene clones in human, mouse for PAX1 (see all 9)
    OriGene ORF clones in mouse, rat for PAX1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PAX1 (NM_006192)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PAX1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PAX1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for PAX1
    OriGene qSTAR qPCR primer pairs in human, mouse for PAX1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PAX1
      QuantiTect SYBR Green Assays in human, mouse, rat PAX1
      QuantiFast Probe-based Assays in human, mouse, rat PAX1

    Additional mRNA sequence: 

    AK303335.1 BC069134.1 BC143791.1 BC143793.1 

    4 DOTS entries:

    DT.91691567  DT.120815197  DT.308264  DT.120815229 

    5 AceView cDNA sequences:

    BC069134 NM_006192 BF237649 AI523766 AI027131 

    GeneLoc Exon Structure


    (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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    PAX1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACTGTCCTC
    PAX1 Expression
    About this image


    PAX1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 14) fully expand
     
     Cartilage (Muscoskeletal System)    fully expand to see all 17 entries
             Intervertebral Disc Annulus Fibrosus Cells Annulus Fibrosus
     
     Somite (Muscoskeletal System)    fully expand to see all 11 entries
             Sacral Somite Cells Sacral Somite
             Somite
     
     Bone (Muscoskeletal System)    fully expand to see all 15 entries
             Prechondrocytic Mesenchymal Cells Vertebral Body
             Pelvic Girdle
     
     Tendon & Ligament
             Sacral Sclerotome Cells Sacral Mesenchymal Sclerotome
     
     Head Mesenchyme (Muscoskeletal System)    fully expand to see all 4 entries
             Osteochondro Progenitor Cells Branchial Arch 1
             Branchial Arch 3,4,6
    PAX1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PAX1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.122310
        Pathway & Disease-focused RT2 Profiler PCR Arrays including PAX1: 
              Stem Cell Transcription Factors in human mouse rat
              T-cell & B-cell Activation in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for PAX1
    OriGene qSTAR qPCR primer pairs in human, mouse for PAX1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PAX1
    QuantiTect SYBR Green Assays in human, mouse, rat PAX1
    QuantiFast Probe-based Assays in human, mouse, rat PAX1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PAX1

    (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 PAX1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pax11 , 5 paired box gene 15
    paired box 11
    86.92(n)1
    91.7(a)1
      2 (72.63 cM)5
    185031  NM_008780.21  NP_032806.21 
     1473619255 
    chicken
    (Gallus gallus)
    Aves PAX11 paired box 1 79.39(n)
    80.06(a)
      100859138  XM_003640897.2  XP_003640945.2 
    lizard
    (Anolis carolinensis)
    Reptilia PAX16
    paired box 1
    72(a)
    1 ↔ 1
    4(81637376-81649108)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia pax11 paired box 1 70.69(n)
    75.56(a)
      100038212  XM_002939437.2  XP_002939483.2 
    zebrafish
    (Danio rerio)
    Actinopterygii pax1a1 paired box 1a 68.56(n)
    73.3(a)
      564359  NM_001080592.1  NP_001074061.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Poxm3 specific RNA polymerase II
    transcription factor
    88(a)
    (best of 3)
      84F11   --
    worm
    (Caenorhabditis elegans)
    Secernentea K07C11.13 DNA-binding transcription factor 72(a)
    (best of 3)
      V(8227563-8228635)   --


    ENSEMBL Gene Tree for PAX1 (if available)
    TreeFam Gene Tree for PAX1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PAX1 gene
    PAX72  PAX32  PAX52  PAX22  PAX82  PAX62  PAX92  PAX42  
    8 SIMAP similar genes for PAX1 using alignment to 1 protein entry:     PAX1_HUMAN:
    PAX9    PAX6    Pax9    PAX8    PAX3    PAX5
    PAX2    PAX4

    Find genes that share paralogs with PAX1           About GenesLikeMe



    (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 PAX1 (see all 334)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1157686901,2
    C,F--21684300(+) CTCGCC/G/TCCCGA 2 -- us2k11WA 118
    rs1835129731,2
    C--21684417(+) GCCTTA/CGCGGA 2 -- us2k10--------
    rs1884622561,2
    --21684428(+) ACTCCC/TGGCTT 2 -- us2k10--------
    rs773496421,2
    C,F--21684527(+) AGCTTC/TCCCTG 2 -- us2k11Minor allele frequency- T:0.02WA 118
    rs60359331,2
    C--21684610(+) CCAGAG/TACTGT 2 -- us2k10--------
    rs1826504651,2
    --21684656(+) TCTTTC/TAAACC 2 -- us2k10--------
    rs1392557691,2
    --21684892(+) GTCACC/TGCGCT 2 -- us2k10--------
    rs1164328251,2
    C,F--21685110(+) GATCCT/CGACCC 2 -- us2k11Minor allele frequency- C:0.05WA 118
    rs1400690261,2
    C--21685188(+) ACAGT-/TAGC  
            
    TAGCT
    2 -- us2k10--------
    rs178610251,2
    C,F--21685215(+) TCAGAA/TCTGCT 2 -- us2k12Minor allele frequency- T:0.05NS WA 276

    HapMap Linkage Disequilibrium report for PAX1 (21686297 - 21696620 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for PAX1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv828703CNV Gain20364138

    Human Gene Mutation Database (HGMD): PAX1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PAX1
    DNA2.0 Custom Variant and Variant Library Synthesis for PAX1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 167411   
    OMIM disorders: 615560  
    4 diseases for PAX1:    
    About MalaCards
    otofaciocervical syndrome 2    diaphanospondylodysostosis    otofaciocervical syndrome    klippel-feil syndrome

    2 diseases from the University of Copenhagen DISEASES database for PAX1:
    Klippel-Feil syndrome     Spina bifida

    Find genes that share disorders with PAX1           About GenesLikeMe

    1 Novoseek inferred disease relationship for PAX1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    vertebral anomalies 74.7 2 12833407 (1), 1358810 (1)

    Genetic Association Database (GAD): PAX1
    Human Genome Epidemiology (HuGE) Navigator: PAX1 (3 documents)

    Export disorders for PAX1 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 PAX1 gene, integrated from 10 sources (see all 36):
    (articles sorted by number of sources associating them with PAX1)
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    1. Pax1, a member of the paired box-containing class of developmental control genes, is mapped to human chromosome 20p11.2 by in situ hybridization (ISH and FISH). (PubMed id 1358810)1, 3, 9 Schnittger S....Hansmann I. (Genomics 1992)
    2. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (J. Bone Miner. Res. 2009)
    3. [Association of PAX1 gene polymorphisms with susceptibility to congenital scoliosis in Chinese Han population]. (PubMed id 19080705)1, 4 Fei Q....Qiu G.X. (Zhonghua Yi Xue Za Zhi 2008)
    4. Susceptibility variants for male-pattern baldness on chromosome 20p11. (PubMed id 18849994)1, 4 Hillmer A.M....NAPthen M.M. (Nat. Genet. 2008)
    5. Male-pattern baldness susceptibility locus at 20p11. (PubMed id 18849991)1, 4 Richards J.B....Mooser V. (Nat. Genet. 2008)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
    8. PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida. (PubMed id 8863157)1, 2 Hol F.A....Mariman E.C.M. (J. Med. Genet. 1996)
    9. Conservation of the paired domain in metazoans and its structure in three isolated human genes. (PubMed id 2501086)1, 2 Burri M.... Noll M. (EMBO J. 1989)
    10. Aberrant Pax1 and Pax9 expression in Jarcho-Levin syndrome: report of two Caucasian siblings and literature review. (PubMed id 12833407)1, 9 Bannykh S.I....Masliah E. (Am. J. Med. Genet. A 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5075 HGNC: 8615 AceView: PAX1 Ensembl:ENSG00000125813 euGenes: HUgn5075
    ECgene: PAX1 H-InvDB: PAX1

    (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)
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    NameDescription
    PharmGKB entry for PAX1 Pharmacogenomics, SNPs, Pathways
    NIEHS-SNPshttp://egp.gs.washington.edu/data/pax1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PAX1 gene:
    Search GeneIP for patents involving PAX1

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



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