Format

Send to:

Choose Destination

PAX7 paired box 7 [ Homo sapiens (human) ]

Gene ID: 5081, updated on 10-Dec-2019

Summary

Official Symbol
PAX7provided by HGNC
Official Full Name
paired box 7provided by HGNC
Primary source
HGNC:HGNC:8621
See related
Ensembl:ENSG00000009709 MIM:167410
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; 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

Genomic context

See PAX7 in Genome Data Viewer
Location:
1p36.13
Exon count:
9
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (18630846..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 PAX7 promoter region Neighboring gene PAX7 intron homotypic clusters of transcription factor binding sites enhancer Neighboring gene taste 1 receptor member 2 Neighboring gene aldehyde dehydrogenase 4 family member A1 Neighboring gene microRNA 4695

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Alveolar rhabdomyosarcoma
MedGen: C0206655 OMIM: 268220 GeneReviews: Not available
Compare labs
MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS
MedGen: CN262312 OMIM: 618578 GeneReviews: Not available
not available

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
regulation of DNA binding IEA
Inferred from Electronic Annotation
more info
 
regulation of cell fate commitment 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
 
Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001135254.2NP_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, ENST00000420770.7
    Conserved Domains (3) summary
    smart00351
    Location:34161
    PAX; Paired Box domain
    pfam12360
    Location:347385
    Pax7; Paired box protein 7
    pfam00046
    Location:220273
    Homeobox; Homeobox domain
  2. NM_002584.3NP_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:34163
    PAX; Paired Box domain
    pfam00046
    Location:220273
    Homeobox; Homeobox domain
    pfam12360
    Location:347385
    Pax7; Paired box protein 7
  3. NM_013945.3NP_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:34161
    PAX; Paired Box domain
    pfam12360
    Location:345383
    Pax7; Paired box protein 7
    pfam00046
    Location:218271
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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