PAX7 paired box 7 [Homo sapiens] - Gene

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Summary

Official Symbol: PAX7provided by HGNC
Official Full Name: paired box 7provided by HGNC
Primary source: HGNC:8621
See related: Ensembl:ENSG00000009709; HPRD:01331; 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; FLJ37460
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]

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Genomic context

Location :: 1p36.13

Sequence :: Chromosome: 1; NC_000001.10 (18957500..19075360)

See PAX7 in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Analysis of Pax7 expressing myogenic cells in zebrafish muscle development, injury and disease.
Title: Analysis of Pax7 expressing myogenic cells in zebrafish muscle development, injury, and models of disease.
results suggest that both Pax3 and Pax7 transcripts are required for commitment of cells to the myogenic lineage, with each transcript having a distinct role
Title: Alternate PAX3 and PAX7 C-terminal isoforms in myogenic differentiation and sarcomagenesis.
MyoD can play an active role in Alveolar rhabdomyosarcoma by augmenting Pax7-FKHR function.
Title: Pax7-FKHR transcriptional activity is enhanced by transcriptionally repressed MyoD.
Transgenic Pax7 and MyoD are not essential for myogenic differentiation and participation of bone marrow-derived myogenic progenitors in muscle regeneration.
Title: Bone marrow-derived hematopoietic cells undergo myogenic differentiation following a Pax-7 independent pathway.
The clinical behavior and molecular characteristics of alveolar rhabdomyosarcoma without a PAX/FOXO1 fusion gene are indistinguishable from embryonal cases and significantly different from fusion-positive alveolar cases.
Title: Fusion gene-negative alveolar rhabdomyosarcoma is clinically and molecularly indistinguishable from embryonal rhabdomyosarcoma.
there is ALK overexpression in rhabdomyosarcomas, most likely independent of PAX3/PAX7-FKHR fusion status
Title: ALK expression in rhabdomyosarcomas: correlation with histologic subtype and fusion status.
TAT analysis of all trios revealed two SNPs in PAX7 showing significant excess maternal transmission Isolated cleft lip with or without cleft palate
Title: Maternal transmission effects of the PAX genes among cleft case-parent trios from four populations.
PAX 7-FKHR fusion transcripts were positive in 2/7 of alveolar rhabdomyosarcoma patients, and were negative in embryonal rhabdomyosarcoma and Control tumors.
Title: [Expression of fusion gene PAX3/PAX7-FKHR and chromosomal aberration in rhabdomyosarcoma].
Results identified a differentiation-resistant skeletal muscle progenitor cell population that was Pax7+/desmin- and capable of self-renewal.
Title: Analysis of human muscle stem cells reveals a differentiation-resistant progenitor cell population expressing Pax7 capable of self-renewal.
Detection of PAX3/7-FKHR fusion gene by one-step RT-PCR is useful in the diagnosis of rhabdomyosarcomas (RMS) and that AChR-gamma is overexpressed in Chinese RMS patients.
Title: PAX--FKHR fusion genes and AChR-gamma in Chinese patients with rhabdomyosarcoma: diagnosis using formalin-fixed archival tissues.

Submit: New GeneRIF Correction See all (18)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Products	Interactant	Other Gene	Source	Pubs	Description
P23759	P54198	HIRA	HPRD	PubMed
BioGRID:111115	BioGRID:114528	ASH2L	BioGRID	PubMed	Affinity Capture-Western
BioGRID:111115	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-Western
BioGRID:111115	BioGRID:204403	Ubc	BioGRID	PubMed	Affinity Capture-Western
BioGRID:111115	BioGRID:116272	WDR5	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western

Function	Evidence Code	Pubs
sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
sequence-specific DNA binding transcription factor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
anatomical structure morphogenesis	TAS Traceable Author Statement more info	PubMed
anti-apoptosis	TAS Traceable Author Statement more info	PubMed
cartilage development	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
multicellular organismal development	IEA Inferred from Electronic Annotation more info
muscle tissue morphogenesis	IEA Inferred from Electronic Annotation more info
neuron fate commitment	IEA Inferred from Electronic Annotation more info
regulation of transcription, DNA-dependent	TAS Traceable Author Statement more info	PubMed
satellite cell commitment	IEA Inferred from Electronic Annotation more info
skeletal muscle tissue development	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
nucleus	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: paired box protein Pax-7

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

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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

NG_023262.1 RefSeqGene

Range

5001..122861

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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/TrEMBL

E9PFV9

UniProtKB/Swiss-Prot

P23759

UniProtKB/TrEMBL

Q2PJS5

Related

ENSP00000403389, OTTHUMP00000223484, ENST00000420770, OTTHUMT00000372482

Conserved Domains (4) summary

cd00086
Location:218 – 275
Blast Score: 229

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

cd00131
Location:34 – 163
Blast Score: 574

PAX; Paired Box domain

pfam00292
Location:34 – 161
Blast Score: 633

PAX; 'Paired box' domain

pfam12360
Location:347 – 385
Blast Score: 161

Pax7; Paired box protein 7
NM_002584.2 → NP_002575.1 paired box protein Pax-7 isoform 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, OTTHUMP00000002534, ENST00000375375, OTTHUMT00000006928

Conserved Domains (4) summary

cd00086
Location:218 – 275
Blast Score: 229

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

cd00131
Location:34 – 163
Blast Score: 573

PAX; Paired Box domain

pfam00292
Location:34 – 161
Blast Score: 632

PAX; 'Paired box' domain

pfam12360
Location:347 – 385
Blast Score: 159

Pax7; Paired box protein 7
NM_013945.2 → NP_039236.1 paired box protein Pax-7 isoform 2

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, OTTHUMP00000223485, ENST00000400661, OTTHUMT00000372483

Conserved Domains (4) summary

cd00086
Location:216 – 273
Blast Score: 228

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

cd00131
Location:34 – 161
Blast Score: 586

PAX; Paired Box domain

pfam00292
Location:34 – 159
Blast Score: 645

PAX; 'Paired box' domain

pfam12360
Location:345 – 383
Blast Score: 159

Pax7; Paired box protein 7

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p5 Primary Assembly

Range

18957500..19075360

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

17203638..17321488

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AJ130875.1	None
genomic	AL021528.1	CAA16432.1
genomic	CH471134.1	EAW94853.1
		EAW94854.1
		EAW94855.1
		EAW94856.1
genomic	X15042.1	None
genomic	X15251.1	None
genomic	X96744.1	CAA65521.1
		CAA65522.1
genomic	X96745.1	None
genomic	X96746.1	None
genomic	X96747.1	None
genomic	X96748.1	None
genomic	Z64432.1	None
mRNA	AK094779.1	None
mRNA	AY578141.1	None
mRNA	BC121165.2	AAI21166.1
mRNA	BC121166.2	AAI21167.1
mRNA	DB474828.1	None
mRNA	DQ322591.1	ABC48797.1
mRNA	X96743.1	CAA65520.1
mRNA	Z35141.1	CAA84513.1