PAX7 paired box 7 [Homo sapiens (human)] - Gene

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; 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: mouse all
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Genomic context

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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?
[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].
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.
Defining and identifying satellite cell-opathies within muscular dystrophies and myopathies.
Title: Defining and identifying satellite cell-opathies within muscular dystrophies and myopathies.
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.
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 EBI GWAS CatalogPubMed
Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13). EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S1324 (e-PCR)
- UniSTS:149521

NoName (e-PCR)
- UniSTS:482094

D1S1368 (e-PCR)
- UniSTS:149564

SHGC-112329 (e-PCR)
- UniSTS:168531

AU046703 (e-PCR)
- UniSTS:111210

D1S1473 (e-PCR)
- UniSTS:149669

AL033566 (e-PCR)
- UniSTS:94169

SHGC-74310 (e-PCR)
- UniSTS:82395

D1S2644 (e-PCR), detects polymorphism
- UniSTS:71141

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 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 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
involved_in skeletal muscle satellite cell differentiation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of 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

NG_023262.1 RefSeqGene

Range

4841..122861

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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