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    PAX7 paired box 7 [ Homo sapiens (human) ]

    Gene ID: 5081, updated on 14-Nov-2024

    Summary

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    Official Symbol
    PAX7provided by HGNC
    Official Full Name
    paired box 7provided by HGNC
    Primary source
    HGNC:HGNC:8621
    See related
    Ensembl:ENSG00000009709 MIM:167410; AllianceGenome:HGNC:8621
    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; CMYO19; CMYP19; MYOSCO
    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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See PAX7 in Genome Data Viewer
    Location:
    1p36.13
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (18630846..18748866)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (18450908..18568930)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (18957340..19075360)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:18807375-18808246 Neighboring gene kelch domain containing 7A Neighboring gene dynein light chain LC8-type 1 pseudogene 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18877005-18877829 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18879379-18879880 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18879881-18880380 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:18883865-18884372 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:18884373-18884880 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18898371-18898870 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18901646-18902224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18902225-18902802 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18925717-18926246 Neighboring gene PAX7 promoter region Neighboring gene PAX7 intron homotypic clusters of transcription factor binding sites enhancer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18962444-18963061 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18963062-18963678 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18963679-18964296 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18967445-18967966 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:18976025-18976654 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:18978097-18978886 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:18979869-18980025 Neighboring gene Sharpr-MPRA regulatory region 1855 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19018361-19018860 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19064331-19064838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19064839-19065345 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19066201-19066702 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19119189-19119690 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19119691-19120190 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19144000-19144500 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19146197-19146706 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19146707-19147216 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:19147395-19147573 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:19176158-19176291 Neighboring gene taste 1 receptor member 2 Neighboring gene Sharpr-MPRA regulatory region 7483 Neighboring gene aldehyde dehydrogenase 4 family member A1 Neighboring gene microRNA 4695

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Human skeletal muscle organoids model fetal myogenesis and sustain uncommitted PAX7 myogenic progenitors.
      Title: Human skeletal muscle organoids model fetal myogenesis and sustain uncommitted PAX7 myogenic progenitors.
    2. In vitro-generated human muscle reserve cells are heterogeneous for Pax7 with distinct molecular states and metabolic profiles.
      Title: In vitro-generated human muscle reserve cells are heterogeneous for Pax7 with distinct molecular states and metabolic profiles.
    3. PAX7, a Key for Myogenesis Modulation in Muscular Dystrophies through Multiple Signaling Pathways: A Systematic Review.
      Title: PAX7, a Key for Myogenesis Modulation in Muscular Dystrophies through Multiple Signaling Pathways: A Systematic Review.
    4. Divergent transcriptional and transforming properties of PAX3-FOXO1 and PAX7-FOXO1 paralogs.
      Title: Divergent transcriptional and transforming properties of PAX3-FOXO1 and PAX7-FOXO1 paralogs.
    5. Does PAX7 and NKX2.2 immunoreactivity in Ewing sarcoma have prognostic significance?
      Title: Does PAX7 and NKX2.2 immunoreactivity in Ewing sarcoma have prognostic significance?
    6. [Alveolar rhabdomyosarcoma: Two fusion-negative cases lacking PAX3-FOXO1 and PAX7-FOXO1].", trans "Rabdomiosarcoma alveolar. Dos casos negativos para la fusion PAX3-FOXO1 y PAX7-FOXO1.
      Title: [Alveolar rhabdomyosarcoma: Two fusion-negative cases lacking PAX3-FOXO1 and PAX7-FOXO1].
    7. Facioscapulohumeral dystrophy transcriptome signatures correlate with different stages of disease and are marked by different MRI biomarkers.
      Title: Facioscapulohumeral dystrophy transcriptome signatures correlate with different stages of disease and are marked by different MRI biomarkers.
    8. Defining and identifying satellite cell-opathies within muscular dystrophies and myopathies.
      Title: Defining and identifying satellite cell-opathies within muscular dystrophies and myopathies.
    9. Upregulation of circ-FBL promotes myogenic proliferation in myasthenia gravis by regulation of miR-133/PAX7.
      Title: Upregulation of circ-FBL promotes myogenic proliferation in myasthenia gravis by regulation of miR-133/PAX7.
    10. PAX7 gene polymorphism in muscular temporomandibular disorders as potentially related to muscle stem cells.
      Title: PAX7 gene polymorphism in muscular temporomandibular disorders as potentially related to muscle stem cells.
    Submit: New GeneRIF Correction See all GeneRIFs (57)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Alveolar rhabdomyosarcoma
    MedGen: C0206655 OMIM: 268220 GeneReviews: Not available
    		not available
    Myopathy, congenital, progressive, with scoliosis
    MedGen: C5231417 OMIM: 618578 GeneReviews: Not available
    		not available

    EBI 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.
    EBI GWAS Catalog
    Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).
    EBI GWAS Catalog
    Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ37460

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in anatomical structure morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of apoptotic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in nervous system development 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 muscle satellite cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    is_active_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    paired box protein Pax-7
    Names
    PAX7 transcriptional factor
    paired box homeotic gene 7
    paired domain gene 7

    NCBI Reference Sequences (RefSeq)

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    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
      4841..122861
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001135254.2 → NP_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
      E9PFV9, P23759, Q0VA99, Q2PJS5
      UniProtKB/TrEMBL
      A0AAQ5BGK0
      Related
      ENSP00000403389.2, ENST00000420770.7
      Conserved Domains (3) summary
      smart00351
      Location:34 → 161
      PAX; Paired Box domain
      pfam00046
      Location:220 → 274
      Homeobox; Homeobox domain
      pfam12360
      Location:347 → 385
      Pax7; Paired box protein 7

    2. NM_002584.3 → NP_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/TrEMBL
      A0AAQ5BGK0
      Related
      ENSP00000364524.3, ENST00000375375.7
      Conserved Domains (3) summary
      cd00131
      Location:34 → 163
      PAX; Paired Box domain
      pfam00046
      Location:220 → 273
      Homeobox; Homeobox domain
      pfam12360
      Location:347 → 385
      Pax7; Paired box protein 7

    3. NM_013945.3 → NP_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/TrEMBL
      A0AAQ5BGK0
      Related
      ENSP00000383502.3, ENST00000400661.3
      Conserved Domains (3) summary
      cd00131
      Location:34 → 161
      PAX; Paired Box domain
      pfam12360
      Location:345 → 383
      Pax7; Paired box protein 7
      pfam00046
      Location:218 → 271
      Homeobox; Homeobox 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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      18630846..18748866
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      18450908..18568930
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P23759.4 GenPept UniProtKB/Swiss-Prot:P23759

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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