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Protein

Paired box protein Pax-7

Gene

PAX7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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)DescriptionActionsGraphical viewLength
DNA bindingi217 – 276HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processMyogenesis, Transcription, Transcription regulation

Enzyme and pathway databases

SIGNORiP23759

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
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000009709.11
HGNCiHGNC:8621 PAX7
MIMi167410 gene
neXtProtiNX_P23759

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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.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.
See also OMIM:268220

Keywords - Diseasei

Proto-oncogene

Organism-specific databases

DisGeNETi5081
MalaCardsiPAX7
MIMi268220 phenotype
OpenTargetsiENSG00000009709
Orphaneti99756 Alveolar rhabdomyosarcoma
PharmGKBiPA32961

Polymorphism and mutation databases

BioMutaiPAX7
DMDMi8247951

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000501941 – 505Paired box protein Pax-7Add BLAST505

Proteomic databases

PaxDbiP23759
PeptideAtlasiP23759
PRIDEiP23759
ProteomicsDBi54148
54149 [P23759-2]

PTM databases

iPTMnetiP23759
PhosphoSitePlusiP23759

Expressioni

Gene expression databases

BgeeiENSG00000009709
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, 6 interactors
IntActiP23759, 12 interactors
MINTiP23759
STRINGi9606.ENSP00000364524

Structurei

3D structure databases

ProteinModelPortaliP23759
SMRiP23759
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini34 – 163PairedPROSITE-ProRule annotationAdd BLAST130

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni27 – 210Sufficient to mediate interaction with PAXBP1By similarityAdd BLAST184

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi479 – 491OARPROSITE-ProRule annotationAdd BLAST13

Sequence similaritiesi

Belongs to the paired homeobox family.Curated

Keywords - Domaini

Homeobox, Paired box

Phylogenomic databases

eggNOGiKOG0849 Eukaryota
ENOG410XS01 LUCA
GeneTreeiENSGT00680000099553
HOGENOMiHOG000230939
HOVERGENiHBG009115
InParanoidiP23759
KOiK09381
OMAiGTVPRMV
OrthoDBiEOG091G0S4E
TreeFamiTF351610

Family and domain databases

CDDicd00086 homeodomain, 1 hit
cd00131 PAX, 1 hit
Gene3Di1.10.10.10, 2 hits
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR003654 OAR_dom
IPR001523 Paired_dom
IPR022106 Pax7_C
IPR036388 WH-like_DNA-bd_sf
PfamiView protein in Pfam
PF00046 Homeobox, 1 hit
PF00292 PAX, 1 hit
PF12360 Pax7, 1 hit
PRINTSiPR00027 PAIREDBOX
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SM00351 PAX, 1 hit
SUPFAMiSSF46689 SSF46689, 2 hits
PROSITEiView 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

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)DescriptionActionsGraphical viewLength
Sequence conflicti468T → S in ABC48797 (PubMed:16830101).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_057678151 – 152Missing in isoform 2. 1 Publication2
Alternative sequenceiVSP_057679468 – 505TAVDY…TGQAY → SECLVPWASPVPIPSPTPRA SCLFMESYKVVSGWGMSISQ MEKLKSSQMEQFT in isoform 1 and isoform 2. 2 PublicationsAdd BLAST38

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
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 [P23759-3]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement

Similar proteinsi

Entry informationi

Entry nameiPAX7_HUMAN
AccessioniPrimary (citable) accession number: P23759
Secondary accession number(s): E9PFV9, Q0VA99, Q2PJS5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1991
Last sequence update: June 24, 2015
Last modified: June 20, 2018
This is version 186 of the entry and version 4 of the sequence. See 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

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