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P23759

- PAX7_HUMAN

UniProt

P23759 - PAX7_HUMAN

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Protein

Paired box protein Pax-7

Gene

PAX7

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli

Functioni

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

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi217 – 27660HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity Source: Ensembl
  2. sequence-specific DNA binding Source: Ensembl
  3. sequence-specific DNA binding transcription factor activity Source: ProtInc

GO - Biological processi

  1. anatomical structure morphogenesis Source: ProtInc
  2. cartilage development Source: Ensembl
  3. chromatin remodeling Source: Ensembl
  4. dorsal/ventral neural tube patterning Source: Ensembl
  5. embryonic skeletal system development Source: Ensembl
  6. muscle tissue morphogenesis Source: Ensembl
  7. negative regulation of apoptotic process Source: ProtInc
  8. neuron fate commitment Source: Ensembl
  9. positive regulation of histone methylation Source: Ensembl
  10. positive regulation of myoblast proliferation Source: Ensembl
  11. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
  12. regulation of cell fate commitment Source: Ensembl
  13. regulation of protein binding Source: Ensembl
  14. skeletal muscle satellite cell commitment Source: Ensembl
  15. skeletal muscle tissue regeneration Source: Ensembl
  16. spinal cord association neuron differentiation Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Myogenesis, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Paired box protein Pax-7
Alternative name(s):
HuP1
Gene namesi
Name:PAX7
Synonyms:HUP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:8621. PAX7.

Subcellular locationi

GO - Cellular componenti

  1. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

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.

Keywords - Diseasei

Proto-oncogene

Organism-specific databases

MIMi268220. phenotype.
Orphaneti99756. Alveolar rhabdomyosarcoma.
PharmGKBiPA32961.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 520520Paired box protein Pax-7PRO_0000050194Add
BLAST

Proteomic databases

PaxDbiP23759.
PRIDEiP23759.

PTM databases

PhosphoSiteiP23759.

Expressioni

Gene expression databases

BgeeiP23759.
CleanExiHS_PAX7.
GenevestigatoriP23759.

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.By similarity

Protein-protein interaction databases

BioGridi111115. 7 interactions.
IntActiP23759. 7 interactions.
MINTiMINT-7241806.
STRINGi9606.ENSP00000364524.

Structurei

3D structure databases

ProteinModelPortaliP23759.
SMRiP23759. Positions 35-160, 217-275.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini34 – 163130PairedPROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni27 – 210184Sufficient to mediate interaction with PAXBP1By similarityAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi340 – 3467Poly-Ala

Sequence similaritiesi

Belongs to the paired homeobox family.Curated
Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation
Contains 1 paired domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox, Paired box

Phylogenomic databases

eggNOGiNOG326044.
GeneTreeiENSGT00680000099553.
HOGENOMiHOG000230939.
HOVERGENiHBG009115.
InParanoidiP23759.
KOiK09381.
OMAiYKVVSGW.
OrthoDBiEOG7WT431.
PhylomeDBiP23759.
TreeFamiTF351610.

Family and domain databases

Gene3Di1.10.10.10. 2 hits.
1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR001523. Paired_dom.
IPR022106. Pax7.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
PF00292. PAX. 1 hit.
PF12360. Pax7. 1 hit.
[Graphical view]
PRINTSiPR00027. PAIREDBOX.
SMARTiSM00389. HOX. 1 hit.
SM00351. PAX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 2 hits.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS00034. PAIRED_1. 1 hit.
PS51057. PAIRED_2. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform Long (identifier: P23759-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        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 QYGQYGQSEC LVPWASPVPI PSPTPRASCL FMESYKVVSG
510 520
WGMSISQMEK LKSSQMEQFT
Length:520
Mass (Da):56,896
Last modified:May 30, 2000 - v3
Checksum:i3B0F8CC99D65699C
GO
Isoform Short (identifier: P23759-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     151-152: Missing.

Show »
Length:518
Mass (Da):56,726
Checksum:i5400E4AF04F4023C
GO
Isoform 3 (identifier: P23759-3) [UniParc]FASTAAdd to Basket

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

Show »
Length:505
Mass (Da):55,119
Checksum:iE51CF8B3E8D4C3D9
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Isoform 3 (identifier: P23759-3)
Sequence conflicti468 – 4681T → S in ABC48797. (PubMed:16830101)Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei151 – 1522Missing in isoform Short. 1 PublicationVSP_002370
Alternative sequencei468 – 52053SECLV…MEQFT → TAVDYLAKNVSLSTQRRMKL GEHSAVLGLLPVETGQAY in isoform 3. 1 PublicationVSP_046666Add
BLAST

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. Translation: CAA16432.1.
CH471134 Genomic DNA. Translation: EAW94853.1.
BC121165 mRNA. Translation: AAI21166.1.
BC121166 mRNA. Translation: AAI21167.1.
Z35141 mRNA. Translation: CAA84513.1.
CCDSiCCDS186.1. [P23759-1]
CCDS44074.1. [P23759-3]
CCDS44075.1. [P23759-2]
PIRiS78502.
RefSeqiNP_001128726.1. NM_001135254.1. [P23759-3]
NP_002575.1. NM_002584.2. [P23759-1]
NP_039236.1. NM_013945.2. [P23759-2]
UniGeneiHs.113253.

Genome annotation databases

EnsembliENST00000375375; ENSP00000364524; ENSG00000009709. [P23759-1]
ENST00000400661; ENSP00000383502; ENSG00000009709. [P23759-2]
ENST00000420770; ENSP00000403389; ENSG00000009709. [P23759-3]
GeneIDi5081.
KEGGihsa:5081.
UCSCiuc001bay.3. human. [P23759-1]
uc001baz.3. human. [P23759-2]

Polymorphism databases

DMDMi8247951.

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement

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. Translation: CAA16432.1 .
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 ]
UniGenei Hs.113253.

3D structure databases

ProteinModelPortali P23759.
SMRi P23759. Positions 35-160, 217-275.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 111115. 7 interactions.
IntActi P23759. 7 interactions.
MINTi MINT-7241806.
STRINGi 9606.ENSP00000364524.

PTM databases

PhosphoSitei P23759.

Polymorphism databases

DMDMi 8247951.

Proteomic databases

PaxDbi P23759.
PRIDEi P23759.

Protocols and materials databases

Structural Biology Knowledgebase Search...

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. [P23759-1 ]
uc001baz.3. human. [P23759-2 ]

Organism-specific databases

CTDi 5081.
GeneCardsi GC01P018957.
HGNCi HGNC:8621. PAX7.
MIMi 167410. gene.
268220. phenotype.
neXtProti NX_P23759.
Orphaneti 99756. Alveolar rhabdomyosarcoma.
PharmGKBi PA32961.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG326044.
GeneTreei ENSGT00680000099553.
HOGENOMi HOG000230939.
HOVERGENi HBG009115.
InParanoidi P23759.
KOi K09381.
OMAi YKVVSGW.
OrthoDBi EOG7WT431.
PhylomeDBi P23759.
TreeFami TF351610.

Miscellaneous databases

ChiTaRSi PAX7. human.
GeneWikii PAX7.
GenomeRNAii 5081.
NextBioi 19602.
PROi P23759.
SOURCEi Search...

Gene expression databases

Bgeei P23759.
CleanExi HS_PAX7.
Genevestigatori P23759.

Family and domain databases

Gene3Di 1.10.10.10. 2 hits.
1.10.10.60. 1 hit.
InterProi IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR001523. Paired_dom.
IPR022106. Pax7.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view ]
Pfami PF00046. Homeobox. 1 hit.
PF00292. PAX. 1 hit.
PF12360. Pax7. 1 hit.
[Graphical view ]
PRINTSi PR00027. PAIREDBOX.
SMARTi SM00389. HOX. 1 hit.
SM00351. PAX. 1 hit.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 2 hits.
PROSITEi PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS00034. PAIRED_1. 1 hit.
PS51057. PAIRED_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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.
    , 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. 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.

Entry informationi

Entry nameiPAX7_HUMAN
AccessioniPrimary (citable) accession number: P23759
Secondary accession number(s): E9PFV9, Q0VA99, Q2PJS5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1991
Last sequence update: May 30, 2000
Last modified: November 26, 2014
This is version 155 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3