UniProtKB - P23759 (PAX7_HUMAN)
Protein
Paired box protein Pax-7
Gene
PAX7
Organism
Homo sapiens (Human)
Status
Functioni
Transcription factor that is involved in the regulation of muscle stem cells proliferation, playing a role in myogenesis and muscle regeneration.1 Publication
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 34 – 163 | PairedPROSITE-ProRule annotationAdd BLAST | 130 | |
DNA bindingi | 217 – 276 | HomeoboxPROSITE-ProRule annotationAdd BLAST | 60 |
GO - Molecular functioni
- DNA-binding transcription factor activity Source: ProtInc
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: GO_Central
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
GO - Biological processi
- anatomical structure development Source: GO_Central
- anatomical structure morphogenesis Source: ProtInc
- muscle organ development Source: UniProtKB-KW
- negative regulation of apoptotic process Source: ProtInc
- regulation of transcription by RNA polymerase II Source: GO_Central
Keywordsi
Molecular function | Developmental protein, DNA-binding |
Biological process | Myogenesis, Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | P23759 |
SIGNORi | P23759 |
Names & Taxonomyi
Protein namesi | Recommended name: Paired box protein Pax-7Alternative name(s): HuP1 |
Gene namesi | Name:PAX7 Synonyms:HUP1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:8621, PAX7 |
MIMi | 167410, gene |
neXtProti | NX_P23759 |
VEuPathDBi | HostDB:ENSG00000009709.11 |
Pathology & Biotechi
Involvement in diseasei
Rhabdomyosarcoma 2 (RMS2)1 Publication
The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving PAX7 is found in rhabdomyosarcoma. Translocation t(1;13)(p36;q14) with FOXO1. The resulting protein is a transcriptional activator.1 Publication
Disease descriptionA form of rhabdomyosarcoma, a highly malignant tumor of striated muscle derived from primitive mesenchymal cells and exhibiting differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one of the most frequently occurring soft tissue sarcomas and the most common in children. It occurs in four forms: alveolar, pleomorphic, embryonal and botryoidal rhabdomyosarcomas.
Related information in OMIMMyopathy, congenital, progressive, with scoliosis (MYOSCO)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive muscular disorder characterized by infantile onset of progressive muscular atrophy, hypotonia, ptosis, scoliosis and dysmorphic facial features. Disease severity is variable, ranging from mild to severe.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083265 | 56 | R → C in MYOSCO. 1 PublicationCorresponds to variant dbSNP:rs1392068839EnsemblClinVar. | 1 | |
Natural variantiVAR_083266 | 74 – 505 | Missing in MYOSCO. 1 PublicationAdd BLAST | 432 | |
Natural variantiVAR_083267 | 145 – 505 | Missing in MYOSCO; loss-of-function variant resulting in a reduced muscle stem cell pool; the protein is not detected in patient muscle. 1 PublicationAdd BLAST | 361 |
Keywords - Diseasei
Disease variant, Proto-oncogeneOrganism-specific databases
DisGeNETi | 5081 |
MalaCardsi | PAX7 |
MIMi | 268220, phenotype 618578, phenotype |
OpenTargetsi | ENSG00000009709 |
Orphaneti | 99756, Alveolar rhabdomyosarcoma |
PharmGKBi | PA32961 |
Miscellaneous databases
Pharosi | P23759, Tbio |
Genetic variation databases
BioMutai | PAX7 |
DMDMi | 8247951 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000050194 | 1 – 505 | Paired box protein Pax-7Add BLAST | 505 |
Proteomic databases
MassIVEi | P23759 |
PaxDbi | P23759 |
PeptideAtlasi | P23759 |
PRIDEi | P23759 |
ProteomicsDBi | 20189 54148 [P23759-1] 54149 [P23759-2] |
PTM databases
iPTMneti | P23759 |
PhosphoSitePlusi | P23759 |
Expressioni
Gene expression databases
Bgeei | ENSG00000009709, Expressed in nasal cavity epithelium and 47 other tissues |
Genevisiblei | P23759, HS |
Organism-specific databases
HPAi | ENSG00000009709, Tissue enhanced (skeletal muscle, tongue) |
Interactioni
Subunit structurei
Can bind to DNA as a heterodimer with PAX3.
Interacts with PAXBP1; the interaction links PAX7 to a WDR5-containing histone methyltransferase complex (By similarity).
Interacts with DAXX (PubMed:10393185).
By similarity1 PublicationBinary interactionsi
Hide detailsIsoform 2 [P23759-2]
Protein-protein interaction databases
BioGRIDi | 111115, 14 interactors |
IntActi | P23759, 13 interactors |
MINTi | P23759 |
STRINGi | 9606.ENSP00000364524 |
Miscellaneous databases
RNActi | P23759, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 27 – 210 | Sufficient to mediate interaction with PAXBP1By similarityAdd BLAST | 184 | |
Regioni | 37 – 93 | PAI subdomainPROSITE-ProRule annotationAdd BLAST | 57 | |
Regioni | 113 – 163 | RED subdomainPROSITE-ProRule annotationAdd BLAST | 51 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 479 – 491 | OARPROSITE-ProRule annotationAdd BLAST | 13 |
Sequence similaritiesi
Belongs to the paired homeobox family.Curated
Keywords - Domaini
Homeobox, Paired boxPhylogenomic databases
eggNOGi | KOG0849, Eukaryota |
GeneTreei | ENSGT00940000156759 |
HOGENOMi | CLU_019281_8_0_1 |
InParanoidi | P23759 |
OMAi | CQRADSI |
OrthoDBi | 1126858at2759 |
TreeFami | TF351610 |
Family and domain databases
CDDi | cd00086, homeodomain, 1 hit cd00131, PAX, 1 hit |
Gene3Di | 1.10.10.10, 2 hits |
InterProi | View protein in InterPro IPR009057, Homeobox-like_sf IPR017970, Homeobox_CS IPR001356, Homeobox_dom IPR003654, OAR_dom IPR043182, PAIRED_DNA-bd_dom IPR001523, Paired_dom IPR022106, Pax7_C IPR043565, PAX_fam IPR036388, WH-like_DNA-bd_sf |
PANTHERi | PTHR45636, PTHR45636, 1 hit |
Pfami | View protein in Pfam PF00046, Homeodomain, 1 hit PF00292, PAX, 1 hit PF12360, Pax7, 1 hit |
PRINTSi | PR00027, PAIREDBOX |
SMARTi | View protein in SMART SM00389, HOX, 1 hit SM00351, PAX, 1 hit |
SUPFAMi | SSF46689, SSF46689, 2 hits |
PROSITEi | View protein in PROSITE PS00027, HOMEOBOX_1, 1 hit PS50071, HOMEOBOX_2, 1 hit PS50803, OAR, 1 hit PS00034, PAIRED_1, 1 hit PS51057, PAIRED_2, 1 hit |
s (3)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketIsoform 3 (identifier: P23759-3) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAALPGTVPR MMRPAPGQNY PRTGFPLEVS TPLGQGRVNQ LGGVFINGRP
60 70 80 90 100
LPNHIRHKIV EMAHHGIRPC VISRQLRVSH GCVSKILCRY QETGSIRPGA
110 120 130 140 150
IGGSKPRQVA TPDVEKKIEE YKRENPGMFS WEIRDRLLKD GHCDRSTVPS
160 170 180 190 200
GLVSSISRVL RIKFGKKEEE DEADKKEDDG EKKAKHSIDG ILGDKGNRLD
210 220 230 240 250
EGSDVESEPD LPLKRKQRRS RTTFTAEQLE ELEKAFERTH YPDIYTREEL
260 270 280 290 300
AQRTKLTEAR VQVWFSNRRA RWRKQAGANQ LAAFNHLLPG GFPPTGMPTL
310 320 330 340 350
PPYQLPDSTY PTTTISQDGG STVHRPQPLP PSTMHQGGLA AAAAAADTSS
360 370 380 390 400
AYGARHSFSS YSDSFMNPAA PSNHMNPVSN GLSPQVMSIL GNPSAVPPQP
410 420 430 440 450
QADFSISPLH GGLDSATSIS ASCSQRADSI KPGDSLPTSQ AYCPPTYSTT
460 470 480 490 500
GYSVDPVAGY QYGQYGQTAV DYLAKNVSLS TQRRMKLGEH SAVLGLLPVE
TGQAY
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 468 | T → S in ABC48797 (PubMed:16830101).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083265 | 56 | R → C in MYOSCO. 1 PublicationCorresponds to variant dbSNP:rs1392068839EnsemblClinVar. | 1 | |
Natural variantiVAR_083266 | 74 – 505 | Missing in MYOSCO. 1 PublicationAdd BLAST | 432 | |
Natural variantiVAR_083267 | 145 – 505 | Missing in MYOSCO; loss-of-function variant resulting in a reduced muscle stem cell pool; the protein is not detected in patient muscle. 1 PublicationAdd BLAST | 361 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_057678 | 151 – 152 | Missing in isoform 2. 1 Publication | 2 | |
Alternative sequenceiVSP_057679 | 468 – 505 | TAVDY…TGQAY → SECLVPWASPVPIPSPTPRA SCLFMESYKVVSGWGMSISQ MEKLKSSQMEQFT in isoform 1 and isoform 2. 2 PublicationsAdd BLAST | 38 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X96743 mRNA Translation: CAA65520.1 X96744 , X15042, X15250, X15251, X96745, X96746, X96747, X96748 Genomic DNA Translation: CAA65521.1 X96744 , X15042, X15250, X15251, X96745, X96746, X96747, X96748 Genomic DNA Translation: CAA65522.1 DQ322591 mRNA Translation: ABC48797.1 AL021528 Genomic DNA No translation available. CH471134 Genomic DNA Translation: EAW94853.1 BC121165 mRNA Translation: AAI21166.1 BC121166 mRNA Translation: AAI21167.1 Z35141 mRNA Translation: CAA84513.1 |
CCDSi | CCDS186.1 [P23759-1] CCDS44074.1 [P23759-3] CCDS44075.1 [P23759-2] |
PIRi | S78502 |
RefSeqi | NP_001128726.1, NM_001135254.1 [P23759-3] NP_002575.1, NM_002584.2 [P23759-1] NP_039236.1, NM_013945.2 [P23759-2] |
Genome annotation databases
Ensembli | ENST00000375375; ENSP00000364524; ENSG00000009709 [P23759-1] ENST00000400661; ENSP00000383502; ENSG00000009709 [P23759-2] ENST00000420770; ENSP00000403389; ENSG00000009709 [P23759-3] |
GeneIDi | 5081 |
KEGGi | hsa:5081 |
UCSCi | uc001bay.3, human [P23759-3] |
Keywords - Coding sequence diversityi
Alternative splicing, Chromosomal rearrangementSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X96743 mRNA Translation: CAA65520.1 X96744 , X15042, X15250, X15251, X96745, X96746, X96747, X96748 Genomic DNA Translation: CAA65521.1 X96744 , X15042, X15250, X15251, X96745, X96746, X96747, X96748 Genomic DNA Translation: CAA65522.1 DQ322591 mRNA Translation: ABC48797.1 AL021528 Genomic DNA No translation available. CH471134 Genomic DNA Translation: EAW94853.1 BC121165 mRNA Translation: AAI21166.1 BC121166 mRNA Translation: AAI21167.1 Z35141 mRNA Translation: CAA84513.1 |
CCDSi | CCDS186.1 [P23759-1] CCDS44074.1 [P23759-3] CCDS44075.1 [P23759-2] |
PIRi | S78502 |
RefSeqi | NP_001128726.1, NM_001135254.1 [P23759-3] NP_002575.1, NM_002584.2 [P23759-1] NP_039236.1, NM_013945.2 [P23759-2] |
3D structure databases
SMRi | P23759 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 111115, 14 interactors |
IntActi | P23759, 13 interactors |
MINTi | P23759 |
STRINGi | 9606.ENSP00000364524 |
PTM databases
iPTMneti | P23759 |
PhosphoSitePlusi | P23759 |
Genetic variation databases
BioMutai | PAX7 |
DMDMi | 8247951 |
Proteomic databases
MassIVEi | P23759 |
PaxDbi | P23759 |
PeptideAtlasi | P23759 |
PRIDEi | P23759 |
ProteomicsDBi | 20189 54148 [P23759-1] 54149 [P23759-2] |
Protocols and materials databases
Antibodypediai | 14724, 712 antibodies |
Genome annotation databases
Ensembli | ENST00000375375; ENSP00000364524; ENSG00000009709 [P23759-1] ENST00000400661; ENSP00000383502; ENSG00000009709 [P23759-2] ENST00000420770; ENSP00000403389; ENSG00000009709 [P23759-3] |
GeneIDi | 5081 |
KEGGi | hsa:5081 |
UCSCi | uc001bay.3, human [P23759-3] |
Organism-specific databases
CTDi | 5081 |
DisGeNETi | 5081 |
GeneCardsi | PAX7 |
HGNCi | HGNC:8621, PAX7 |
HPAi | ENSG00000009709, Tissue enhanced (skeletal muscle, tongue) |
MalaCardsi | PAX7 |
MIMi | 167410, gene 268220, phenotype 618578, phenotype |
neXtProti | NX_P23759 |
OpenTargetsi | ENSG00000009709 |
Orphaneti | 99756, Alveolar rhabdomyosarcoma |
PharmGKBi | PA32961 |
VEuPathDBi | HostDB:ENSG00000009709.11 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0849, Eukaryota |
GeneTreei | ENSGT00940000156759 |
HOGENOMi | CLU_019281_8_0_1 |
InParanoidi | P23759 |
OMAi | CQRADSI |
OrthoDBi | 1126858at2759 |
TreeFami | TF351610 |
Enzyme and pathway databases
PathwayCommonsi | P23759 |
SIGNORi | P23759 |
Miscellaneous databases
BioGRID-ORCSi | 5081, 10 hits in 1016 CRISPR screens |
ChiTaRSi | PAX7, human |
GeneWikii | PAX7 |
GenomeRNAii | 5081 |
Pharosi | P23759, Tbio |
PROi | PR:P23759 |
RNActi | P23759, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000009709, Expressed in nasal cavity epithelium and 47 other tissues |
Genevisiblei | P23759, HS |
Family and domain databases
CDDi | cd00086, homeodomain, 1 hit cd00131, PAX, 1 hit |
Gene3Di | 1.10.10.10, 2 hits |
InterProi | View protein in InterPro IPR009057, Homeobox-like_sf IPR017970, Homeobox_CS IPR001356, Homeobox_dom IPR003654, OAR_dom IPR043182, PAIRED_DNA-bd_dom IPR001523, Paired_dom IPR022106, Pax7_C IPR043565, PAX_fam IPR036388, WH-like_DNA-bd_sf |
PANTHERi | PTHR45636, PTHR45636, 1 hit |
Pfami | View protein in Pfam PF00046, Homeodomain, 1 hit PF00292, PAX, 1 hit PF12360, Pax7, 1 hit |
PRINTSi | PR00027, PAIREDBOX |
SMARTi | View protein in SMART SM00389, HOX, 1 hit SM00351, PAX, 1 hit |
SUPFAMi | SSF46689, SSF46689, 2 hits |
PROSITEi | View protein in PROSITE PS00027, HOMEOBOX_1, 1 hit PS50071, HOMEOBOX_2, 1 hit PS50803, OAR, 1 hit PS00034, PAIRED_1, 1 hit PS51057, PAIRED_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | PAX7_HUMAN | |
Accessioni | P23759Primary (citable) accession number: P23759 Secondary accession number(s): E9PFV9, Q0VA99, Q2PJS5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1991 |
Last sequence update: | June 24, 2015 | |
Last modified: | April 7, 2021 | |
This is version 206 of the entry and version 4 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families