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Protein

Paired box protein Pax-7

Gene

PAX7

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

GO - Biological processi

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 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:8621. PAX7.

Subcellular locationi

  • Nucleus By similarity

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

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.

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.

See also OMIM:268220

Keywords - Diseasei

Proto-oncogene

Organism-specific databases

MIMi268220. phenotype.
Orphaneti99756. Alveolar rhabdomyosarcoma.
PharmGKBiPA32961.

Polymorphism and mutation databases

BioMutaiPAX7.
DMDMi8247951.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 505505Paired box protein Pax-7PRO_0000050194Add
BLAST

Proteomic databases

PaxDbiP23759.
PRIDEiP23759.

PTM databases

PhosphoSiteiP23759.

Expressioni

Gene expression databases

BgeeiP23759.
CleanExiHS_PAX7.
GenevisibleiP23759. HS.

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 Publication

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

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi479 – 49113OARPROSITE-ProRule annotationAdd
BLAST

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.
OMAiGTVPRMV.
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.
PS50803. OAR. 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. AlignAdd to basket

Isoform 3 (identifier: P23759-3) [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 QYGQYGQTAV DYLAKNVSLS TQRRMKLGEH SAVLGLLPVE

TGQAY
Length:505
Mass (Da):55,119
Last modified:June 24, 2015 - v4
Checksum:iE51CF8B3E8D4C3D9
GO
Isoform 1 (identifier: P23759-1) [UniParc]FASTAAdd to basket

Also known as: Long

The sequence of this isoform differs from the canonical sequence as follows:
     468-505: TAVDYLAKNV...LLPVETGQAY → SECLVPWASP...LKSSQMEQFT

Show »
Length:520
Mass (Da):56,896
Checksum:i3B0F8CC99D65699C
GO
Isoform 2 (identifier: P23759-2) [UniParc]FASTAAdd to basket

Also known as: Short

The sequence of this isoform differs from the canonical sequence as follows:
     151-152: Missing.
     468-505: TAVDYLAKNV...LLPVETGQAY → SECLVPWASP...LKSSQMEQFT

Show »
Length:518
Mass (Da):56,726
Checksum:i5400E4AF04F4023C
GO

Experimental Info

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

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei151 – 1522Missing in isoform 2. 1 PublicationVSP_057678
Alternative sequencei468 – 50538TAVDY…TGQAY → SECLVPWASPVPIPSPTPRA SCLFMESYKVVSGWGMSISQ MEKLKSSQMEQFT in isoform 1 and isoform 2. 2 PublicationsVSP_057679Add
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]

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.
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.

3D structure databases

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

Protein-protein interaction databases

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

PTM databases

PhosphoSiteiP23759.

Polymorphism and mutation databases

BioMutaiPAX7.
DMDMi8247951.

Proteomic databases

PaxDbiP23759.
PRIDEiP23759.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi5081.
GeneCardsiGC01P018957.
HGNCiHGNC:8621. PAX7.
MIMi167410. gene.
268220. phenotype.
neXtProtiNX_P23759.
Orphaneti99756. Alveolar rhabdomyosarcoma.
PharmGKBiPA32961.
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

ChiTaRSiPAX7. human.
GeneWikiiPAX7.
GenomeRNAii5081.
NextBioi19602.
PROiP23759.
SOURCEiSearch...

Gene expression databases

BgeeiP23759.
CleanExiHS_PAX7.
GenevisibleiP23759. HS.

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.
PS50803. OAR. 1 hit.
PS00034. PAIRED_1. 1 hit.
PS51057. PAIRED_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

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] (ISOFORMS 1 AND 2).
  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 2).
  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 (ISOFORMS 1/3).
  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 [GENOMIC DNA] OF 30-195 (ISOFORM 2).
  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: INVOLVEMENT IN RMS2, CHROMOSOMAL TRANSLOCATION WITH FOXO1.
  9. "The Pax3-FKHR oncoprotein is unresponsive to the Pax3-associated repressor hDaxx."
    Hollenbach A.D., Sublett J.E., McPherson C.J., Grosveld G.
    EMBO J. 18:3702-3711(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH DAXX.

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: June 24, 2015
Last modified: June 24, 2015
This is version 158 of the entry and version 4 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.