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P23759 (PAX7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 150. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Paired box protein Pax-7
Alternative name(s):
HuP1
Gene names
Name:PAX7
Synonyms:HUP1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length520 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Transcription factor playing a role in myogenesis through regulation of muscle precursor cells proliferation By similarity.

Subunit structure

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.

Subcellular location

Nucleus.

Involvement in disease

Rhabdomyosarcoma 2 (RMS2) [MIM:268220]: A 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.
Note: 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.

Sequence similarities

Belongs to the paired homeobox family.

Contains 1 homeobox DNA-binding domain.

Contains 1 paired domain.

Ontologies

Keywords
   Biological processMyogenesis
Transcription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
Chromosomal rearrangement
   DiseaseProto-oncogene
   DomainHomeobox
Paired box
   LigandDNA-binding
   Molecular functionDevelopmental protein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processanatomical structure morphogenesis

Traceable author statement Ref.1. Source: ProtInc

cartilage development

Inferred from electronic annotation. Source: Ensembl

chromatin remodeling

Inferred from electronic annotation. Source: Ensembl

dorsal/ventral neural tube patterning

Inferred from electronic annotation. Source: Ensembl

embryonic skeletal system development

Inferred from electronic annotation. Source: Ensembl

muscle tissue morphogenesis

Inferred from electronic annotation. Source: Ensembl

negative regulation of apoptotic process

Traceable author statement PubMed 10871843. Source: ProtInc

neuron fate commitment

Inferred from electronic annotation. Source: Ensembl

positive regulation of histone methylation

Inferred from electronic annotation. Source: Ensembl

positive regulation of myoblast proliferation

Inferred from electronic annotation. Source: Ensembl

positive regulation of transcription from RNA polymerase II promoter

Inferred from electronic annotation. Source: Ensembl

regulation of cell fate commitment

Inferred from electronic annotation. Source: Ensembl

regulation of protein binding

Inferred from electronic annotation. Source: Ensembl

satellite cell commitment

Inferred from electronic annotation. Source: Ensembl

skeletal muscle tissue regeneration

Inferred from electronic annotation. Source: Ensembl

spinal cord association neuron differentiation

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionRNA polymerase II core promoter sequence-specific DNA binding transcription factor activity

Inferred from electronic annotation. Source: Ensembl

sequence-specific DNA binding

Inferred from electronic annotation. Source: Ensembl

sequence-specific DNA binding transcription factor activity

Traceable author statement Ref.1. Source: ProtInc

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform Long (identifier: P23759-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform Short (identifier: P23759-2)

The sequence of this isoform differs from the canonical sequence as follows:
     151-152: Missing.
Isoform 3 (identifier: P23759-3)

The sequence of this isoform differs from the canonical sequence as follows:
     468-520: SECLVPWASP...LKSSQMEQFT → TAVDYLAKNV...LLPVETGQAY

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 520520Paired box protein Pax-7
PRO_0000050194

Regions

Domain34 – 163130Paired
DNA binding217 – 27660Homeobox
Region27 – 210184Sufficient to mediate interaction with PAXBP1 By similarity
Compositional bias340 – 3467Poly-Ala

Natural variations

Alternative sequence151 – 1522Missing in isoform Short.
VSP_002370
Alternative sequence468 – 52053SECLV…MEQFT → TAVDYLAKNVSLSTQRRMKL GEHSAVLGLLPVETGQAY in isoform 3.
VSP_046666

Experimental info

Isoform 3:
Sequence conflict4681T → S in ABC48797. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform Long [UniParc].

Last modified May 30, 2000. Version 3.
Checksum: 3B0F8CC99D65699C

FASTA52056,896
        10         20         30         40         50         60 
MAALPGTVPR MMRPAPGQNY PRTGFPLEVS TPLGQGRVNQ LGGVFINGRP LPNHIRHKIV 

        70         80         90        100        110        120 
EMAHHGIRPC VISRQLRVSH GCVSKILCRY QETGSIRPGA IGGSKPRQVA TPDVEKKIEE 

       130        140        150        160        170        180 
YKRENPGMFS WEIRDRLLKD GHCDRSTVPS GLVSSISRVL RIKFGKKEEE DEADKKEDDG 

       190        200        210        220        230        240 
EKKAKHSIDG ILGDKGNRLD EGSDVESEPD LPLKRKQRRS RTTFTAEQLE ELEKAFERTH 

       250        260        270        280        290        300 
YPDIYTREEL AQRTKLTEAR VQVWFSNRRA RWRKQAGANQ LAAFNHLLPG GFPPTGMPTL 

       310        320        330        340        350        360 
PPYQLPDSTY PTTTISQDGG STVHRPQPLP PSTMHQGGLA AAAAAADTSS AYGARHSFSS 

       370        380        390        400        410        420 
YSDSFMNPAA PSNHMNPVSN GLSPQVMSIL GNPSAVPPQP QADFSISPLH GGLDSATSIS 

       430        440        450        460        470        480 
ASCSQRADSI KPGDSLPTSQ AYCPPTYSTT GYSVDPVAGY QYGQYGQSEC LVPWASPVPI 

       490        500        510        520 
PSPTPRASCL FMESYKVVSG WGMSISQMEK LKSSQMEQFT 

« Hide

Isoform Short [UniParc].

Checksum: 5400E4AF04F4023C
Show »

FASTA51856,726
Isoform 3 [UniParc].

Checksum: E51CF8B3E8D4C3D9
Show »

FASTA50555,119

References

« Hide 'large scale' references
[1]"The genomic organization and the full coding region of the human PAX7 gene."
Vorobyov E., Mertsalov I., Dockhorn-Dworniczak B., Dworniczak B., Horst J.
Genomics 45:168-174(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], ALTERNATIVE SPLICING.
[2]"Getting the proto-Pax by the tail."
Vorobyov E., Horst J.
J. Mol. Evol. 63:153-164(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
[3]"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM SHORT).
[6]"Molecular cloning and characterization of a human PAX-7 cDNA expressed in normal and neoplastic myocytes."
Schaefer B.W., Czerny T., Bernasconi M., Genini M., Busslinger M.
Nucleic Acids Res. 22:4574-4582(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-467 (ISOFORM LONG).
[7]"Conservation of the paired domain in metazoans and its structure in three isolated human genes."
Burri M., Tromvoukis Y., Bopp D., Frigerio G., Noll M.
EMBO J. 8:1183-1190(1989) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE OF 30-195 (ISOFORM SHORT).
[8]"Fusion of PAX7 to FKHR by the variant t(1;13)(p36;q14) translocation in alveolar rhabdomyosarcoma."
Davis R.J., D'Cruz C.M., Lovell M.A., Biegel J.A., Barr F.G.
Cancer Res. 54:2869-2872(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: CHROMOSOMAL TRANSLOCATION WITH FOXO1.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X96743 mRNA. Translation: CAA65520.1.
X96744 expand/collapse EMBL AC list , X15042, X15250, X15251, X96745, X96746, X96747, X96748 Genomic DNA. Translation: CAA65521.1.
X96744 expand/collapse EMBL AC list , X15042, X15250, X15251, X96745, X96746, X96747, X96748 Genomic DNA. Translation: CAA65522.1.
DQ322591 mRNA. Translation: ABC48797.1.
AL021528 Genomic DNA. Translation: CAA16432.1.
CH471134 Genomic DNA. Translation: EAW94853.1.
BC121165 mRNA. Translation: AAI21166.1.
BC121166 mRNA. Translation: AAI21167.1.
Z35141 mRNA. Translation: CAA84513.1.
PIRS78502.
RefSeqNP_001128726.1. NM_001135254.1.
NP_002575.1. NM_002584.2.
NP_039236.1. NM_013945.2.
UniGeneHs.113253.

3D structure databases

ProteinModelPortalP23759.
SMRP23759. Positions 35-160, 217-275.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111115. 5 interactions.
IntActP23759. 7 interactions.
MINTMINT-7241806.
STRING9606.ENSP00000364524.

PTM databases

PhosphoSiteP23759.

Polymorphism databases

DMDM8247951.

Proteomic databases

PaxDbP23759.
PRIDEP23759.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000375375; ENSP00000364524; ENSG00000009709. [P23759-1]
ENST00000400661; ENSP00000383502; ENSG00000009709. [P23759-2]
ENST00000420770; ENSP00000403389; ENSG00000009709. [P23759-3]
GeneID5081.
KEGGhsa:5081.
UCSCuc001bay.3. human. [P23759-1]
uc001baz.3. human. [P23759-2]

Organism-specific databases

CTD5081.
GeneCardsGC01P018957.
HGNCHGNC:8621. PAX7.
MIM167410. gene.
268220. phenotype.
neXtProtNX_P23759.
Orphanet99756. Alveolar rhabdomyosarcoma.
PharmGKBPA32961.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG326044.
HOGENOMHOG000230939.
HOVERGENHBG009115.
InParanoidP23759.
KOK09381.
OMAYKVVSGW.
OrthoDBEOG7WT431.
PhylomeDBP23759.
TreeFamTF351610.

Gene expression databases

ArrayExpressP23759.
BgeeP23759.
CleanExHS_PAX7.
GenevestigatorP23759.

Family and domain databases

Gene3D1.10.10.10. 2 hits.
1.10.10.60. 1 hit.
InterProIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR001523. Paired_dom.
IPR022106. Pax7.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamPF00046. Homeobox. 1 hit.
PF00292. PAX. 1 hit.
PF12360. Pax7. 1 hit.
[Graphical view]
PRINTSPR00027. PAIREDBOX.
SMARTSM00389. HOX. 1 hit.
SM00351. PAX. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 2 hits.
PROSITEPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS00034. PAIRED_1. 1 hit.
PS51057. PAIRED_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiPAX7.
GenomeRNAi5081.
NextBio19602.
PROP23759.
SOURCESearch...

Entry information

Entry namePAX7_HUMAN
AccessionPrimary (citable) accession number: P23759
Secondary accession number(s): E9PFV9, Q0VA99, Q2PJS5
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1991
Last sequence update: May 30, 2000
Last modified: April 16, 2014
This is version 150 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM