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PAX7 paired box 7 [ Homo sapiens (human) ]

Gene ID: 5081, updated on 5-Mar-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; 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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (18630846..18748866)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (18450908..18568930)
105.20220307 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
  • 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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Related articles in PubMed

  1. PAX7 gene polymorphism in muscular temporomandibular disorders as potentially related to muscle stem cells. Quinelato V, et al. BMC Musculoskelet Disord, 2021 Nov 17. PMID 34789211, Free PMC Article
  2. Defining and identifying satellite cell-opathies within muscular dystrophies and myopathies. Ganassi M, et al. Exp Cell Res, 2022 Feb 1. PMID 34740639, Free PMC Article
  3. Progression and Differentiation of Alveolar Rhabdomyosarcoma Is Regulated by PAX7 Transcription Factor-Significance of Tumor Subclones. Skrzypek K, et al. Cells, 2021 Jul 23. PMID 34440639, Free PMC Article
  4. Upregulation of circ-FBL promotes myogenic proliferation in myasthenia gravis by regulation of miR-133/PAX7. Lai X, et al. Cell Biol Int, 2021 Nov. PMID 34363272, Free PMC Article
  5. Genomic Safe Harbor Expression of PAX7 for the Generation of Engraftable Myogenic Progenitors. Kim H, et al. Stem Cell Reports, 2021 Jan 12. PMID 33275879, Free PMC Article

See all (89) citations in PubMed

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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

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

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)

Genotypes

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 TAS
Traceable Author Statement
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 sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in anatomical structure development IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in anatomical structure morphogenesis TAS
Traceable Author Statement
more info
 PubMed 
involved_in muscle organ development IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of apoptotic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of chromatin ISA
Inferred from Sequence Alignment
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
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
    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/Swiss-Prot
    P23759
    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/Swiss-Prot
    P23759
    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_2023_10

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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