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    PAX7 paired box 7 [ Homo sapiens (human) ]

    Gene ID: 5081, updated on 22-Apr-2017
    Official Symbol
    PAX7provided by HGNC
    Official Full Name
    paired box 7provided by HGNC
    Primary source
    HGNC:HGNC:8621
    See related
    Ensembl:ENSG00000009709 MIM:167410; Vega:OTTHUMG00000002433
    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
    HUP1; RMS2; PAX7B
    Summary
    This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The specific function of the paired box 7 gene is unknown but speculated to involve tumor suppression since fusion of this gene with a forkhead domain family member has been associated with alveolar rhabdomyosarcoma. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
    Orthologs
    Location:
    1p36.13
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (18631006..18748866)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (18957500..19075360)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene kelch domain containing 7A Neighboring gene dynein light chain LC8-type 1 pseudogene 3 Neighboring gene taste 1 receptor member 2 Neighboring gene aldehyde dehydrogenase 4 family member A1 Neighboring gene microRNA 4695

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Rhabdomyosarcoma alveolar
    MedGen: C0206655 OMIM: 268220 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.
    NHGRI GWA Catalog
    Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).
    NHGRI GWA Catalog
    Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ37460

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    anatomical structure morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    cartilage development IEA
    Inferred from Electronic Annotation
    more info
     
    chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    dorsal/ventral neural tube patterning IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic skeletal system development IEA
    Inferred from Electronic Annotation
    more info
     
    muscle tissue morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    neuron fate commitment IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of histone methylation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of myoblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cell fate commitment IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    skeletal muscle satellite cell commitment IEA
    Inferred from Electronic Annotation
    more info
     
    skeletal muscle tissue regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    spinal cord association neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    paired box protein Pax-7
    Names
    PAX7 transcriptional factor
    paired box homeotic gene 7
    paired domain gene 7

    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_023262.1 RefSeqGene

      Range
      5001..122861
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001135254.1NP_001128726.1  paired box protein Pax-7 isoform 3

      See identical proteins and their annotated locations for NP_001128726.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AL021528, DB474828, DQ322591, X96743
      Consensus CDS
      CCDS44074.1
      UniProtKB/Swiss-Prot
      P23759
      Related
      ENSP00000403389.2, OTTHUMP00000223484, ENST00000420770.6, OTTHUMT00000372482
      Conserved Domains (3) summary
      smart00351
      Location:34161
      PAX; Paired Box domain
      pfam00046
      Location:220273
      Homeobox; Homeobox domain
      pfam12360
      Location:347385
      Pax7; Paired box protein 7
    2. NM_002584.2NP_002575.1  paired box protein Pax-7 isoform 1

      See identical proteins and their annotated locations for NP_002575.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AL021528, BC121165, X96743
      Consensus CDS
      CCDS186.1
      UniProtKB/Swiss-Prot
      P23759
      Related
      ENSP00000364524.3, OTTHUMP00000002534, ENST00000375375.7, OTTHUMT00000006928
      Conserved Domains (3) summary
      cd00131
      Location:34163
      PAX; Paired Box domain
      pfam00046
      Location:220273
      Homeobox; Homeobox domain
      pfam12360
      Location:347385
      Pax7; Paired box protein 7
    3. NM_013945.2NP_039236.1  paired box protein Pax-7 isoform 2

      See identical proteins and their annotated locations for NP_039236.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is two aa shorter compared to isoform 1.
      Source sequence(s)
      AL021528, BC121165, X96743
      Consensus CDS
      CCDS44075.1
      UniProtKB/Swiss-Prot
      P23759
      Related
      ENSP00000383502.3, OTTHUMP00000223485, ENST00000400661.3, OTTHUMT00000372483
      Conserved Domains (3) summary
      cd00131
      Location:34161
      PAX; Paired Box domain
      pfam00046
      Location:218271
      Homeobox; Homeobox domain
      pfam12360
      Location:345383
      Pax7; Paired box protein 7

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      18631006..18748866
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      19066628..19184492
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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