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    PAX1 paired box 1 [ Homo sapiens (human) ]

    Gene ID: 5075, updated on 10-Dec-2024

    Summary

    Official Symbol
    PAX1provided by HGNC
    Official Full Name
    paired box 1provided by HGNC
    Primary source
    HGNC:HGNC:8615
    See related
    Ensembl:ENSG00000125813 MIM:167411; AllianceGenome:HGNC:8615
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OFC2; HUP48; OTFCS2
    Summary
    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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
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    Genomic context

    See PAX1 in Genome Data Viewer
    Location:
    20p11.22
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (21705664..21718481)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (21762357..21775174)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (21686302..21699119)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene Beta cell long intergenic noncoding RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:21554890-21555390 Neighboring gene long intergenic non-protein coding RNA 1727 Neighboring gene long intergenic non-protein coding RNA 1726 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:21681724-21682329 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:21683541-21684145 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:21693479-21693978 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:21719865-21720366 Neighboring gene solute carrier family 25 member 6 pseudogene 1 Neighboring gene ribosomal protein L41 pseudogene 1

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Otofaciocervical syndrome 2
    MedGen: C5442121 OMIM: 615560 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Male-pattern baldness susceptibility locus at 20p11.
    EBI GWAS Catalog
    Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases.
    EBI GWAS Catalog
    Susceptibility variants for male-pattern baldness on chromosome 20p11.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in embryo development ending in birth or egg hatching IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in skeletal system development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    paired box protein Pax-1
    Names
    paired box gene 1
    paired domain gene HuP48

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_047065.1 RefSeqGene

      Range
      5006..17823
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001257096.2NP_001244025.1  paired box protein Pax-1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform 2, which has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AI167631, AL035562, BC143793
      Consensus CDS
      CCDS74709.1
      UniProtKB/TrEMBL
      A0A087WXV5
      Related
      ENSP00000481334.1, ENST00000613128.5
      Conserved Domains (1) summary
      cd00131
      Location:98225
      PAX; Paired Box domain
    2. NM_006192.5NP_006183.2  paired box protein Pax-1 isoform 1

      See identical proteins and their annotated locations for NP_006183.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AI167631, AL035562, BC069134
      Consensus CDS
      CCDS13146.2
      UniProtKB/Swiss-Prot
      B4E0D6, P15863, Q642X9, Q6NTC0, Q9Y558
      Related
      ENSP00000381499.2, ENST00000398485.6
      Conserved Domains (1) summary
      cd00131
      Location:98225
      PAX; Paired Box domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      21705664..21718481
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      21762357..21775174
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)