P23759 (PAX7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Paired box protein Pax-7

Alternative name(s):
HuP1

Gene names

Name:	PAX7
Synonyms:	HUP1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	520 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Probable transcription factor. May have a role in myogenesis.
Subunit structure	Can bind to DNA as a heterodimer with PAX3. Interacts with DAXX.
Subcellular location	Nucleus.
Involvement in disease	Defects in PAX7 are a cause of rhabdomyosarcoma type 2 (RMS2) [MIM:268220]. It is a form of rhabdomyosarcoma, a highly malignant tumor of striated muscle derived from primitive mesenchimal 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=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 process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Chromosomal rearrangement
Disease	Proto-oncogene
Domain	Homeobox Paired box
Ligand	DNA-binding
Molecular function	Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	anti-apoptosis Traceable author statement. Source: ProtInc transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro sequence-specific DNA binding transcription factor activity Traceable author statement. Source: ProtInc
Complete GO annotation...

Alternative products

This entry describes 2 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.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 520	520	Paired box protein Pax-7		PRO_0000050194
Regions
	Domain	34 – 163	130	Paired
	DNA binding	217 – 276	60	Homeobox
	Compositional bias	340 – 346	7	Poly-Ala
Natural variations
	Alternative sequence	151 – 152	2	Missing in isoform Short.		VSP_002370

Sequences

	Sequence		Length	Mass (Da)
	Isoform Long [UniParc]. Last modified May 30, 2000. Version 3. Checksum: 3B0F8CC99D65699C	FASTA	520	56,896
	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
	Isoform Short [UniParc]. Checksum: 5400E4AF04F4023C	FASTA	518	56,726
	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 VSSISRVLRI KFGKKEEEDE ADKKEDDGEK 190 200 210 220 230 240 KAKHSIDGIL GDKGNRLDEG SDVESEPDLP LKRKQRRSRT TFTAEQLEEL EKAFERTHYP 250 260 270 280 290 300 DIYTREELAQ RTKLTEARVQ VWFSNRRARW RKQAGANQLA AFNHLLPGGF PPTGMPTLPP 310 320 330 340 350 360 YQLPDSTYPT TTISQDGGST VHRPQPLPPS TMHQGGLAAA AAAADTSSAY GARHSFSSYS 370 380 390 400 410 420 DSFMNPAAPS NHMNPVSNGL SPQVMSILGN PSAVPPQPQA DFSISPLHGG LDSATSISAS 430 440 450 460 470 480 CSQRADSIKP GDSLPTSQAY CPPTYSTTGY SVDPVAGYQY GQYGQSECLV PWASPVPIPS 490 500 510 PTPRASCLFM ESYKVVSGWG MSISQMEKLK SSQMEQFT

References

	« Hide 'large scale' referencesShow '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: 9339373] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], ALTERNATIVE SPLICING.
[2]	"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: 16710414] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	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. , 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].
[4]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM SHORT).
[5]	"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: 7527137] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-467 (ISOFORM LONG).
[6]	"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: 2501086] [Abstract] Cited for: NUCLEOTIDE SEQUENCE OF 30-195 (ISOFORM SHORT).
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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. 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.
IPI	IPI00004431. IPI00012894.
PIR	S78502.
RefSeq	NP_001128726.1. NM_001135254.1. NP_002575.1. NM_002584.2. NP_039236.1. NM_013945.2.
UniGene	Hs.113253.
3D structure databases
ProteinModelPortal	P23759.
SMR	P23759. Positions 35-160, 217-275.
ModBase	Search...
Protein-protein interaction databases
IntAct	P23759. 4 interactions.
MINT	MINT-7241806.
STRING	P23759.
Polymorphism databases
DMDM	8247951.
Proteomic databases
PRIDE	P23759.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000375375; ENSP00000364524; ENSG00000009709.
GeneID	5081.
KEGG	hsa:5081.
UCSC	uc001bay.1. human.
Organism-specific databases
CTD	5081.
GeneCards	GC01P018957.
H-InvDB	HIX0028848.
HGNC	HGNC:8621. PAX7.
MIM	167410. gene. 268220. phenotype.
neXtProt	NX_P23759.
Orphanet	99756. Alveolar rhabdomyosarcoma.
PharmGKB	PA32961.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG09027.
GeneTree	ENSGT00600000084285.
HOGENOM	HBG714463.
HOVERGEN	HBG009115.
InParanoid	P23759.
OMA	MSILGNP.
OrthoDB	EOG4JM7PH.
PhylomeDB	P23759.
Gene expression databases
ArrayExpress	P23759.
Bgee	P23759.
CleanEx	HS_PAX7.
Genevestigator	P23759.
GermOnline	ENSG00000009709. Homo sapiens.
Family and domain databases
InterPro	IPR001356. Homeobox. IPR017970. Homeobox_CS. IPR009057. Homeodomain-like. IPR012287. Homeodomain-rel. IPR001523. Paired_box_N. IPR022106. Pax7. IPR011991. WHTH_trsnscrt_rep_DNA-bd. [Graphical view]
Gene3D	G3DSA:1.10.10.60. Homeodomain-rel. 1 hit. G3DSA:1.10.10.10. Wing_hlx_DNA_bd. 2 hits.
KO	K09381.
Pfam	PF00046. Homeobox. 1 hit. PF00292. PAX. 1 hit. PF12360. Pax7. 1 hit. [Graphical view]
PRINTS	PR00027. PAIREDBOX.
SMART	SM00389. HOX. 1 hit. SM00351. PAX. 1 hit. [Graphical view]
SUPFAM	SSF46689. Homeodomain_like. 2 hits.
PROSITE	PS00027. HOMEOBOX_1. 1 hit. PS50071. HOMEOBOX_2. 1 hit. PS00034. PAIRED_1. 1 hit. PS51057. PAIRED_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	19602.
SOURCE	Search...

Entry information

Entry name

PAX7_HUMAN

Accession

Primary (citable) accession number: P23759
Secondary accession number(s): Q0VA99

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1991
Last sequence update:	May 30, 2000
Last modified:	January 25, 2012
This is version 127 of the entry and version 3 of the sequence. [Complete history]

Entry status

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.