Gene: Pax7

Basic information

Tag Content
Uniprot ID P47239; Q9ES16;
Entrez ID 18509
Genbank protein ID AAG16663.3; AAA64491.1;
Genbank nucleotide ID NM_011039.2
Ensembl protein ID ENSMUSP00000030508
Ensembl nucleotide ID ENSMUSG00000028736
Gene name Paired box protein Pax-7
Gene symbol Pax7
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage
Data sources Manually collected
Reference 25800090
Functional description Transcription factor that is involved in the regulation of muscle stem cells proliferation, playing a role in myogenesis and muscle regeneration.
Sequence
MAALPGAVPR MMRPGPGQNY PRTGFPLEVS TPLGQGRVNQ LGGVFINGRP LPNHIRHKIV 60
EMAHHGIRPC VISRQLRVSH GCVSKILCRY QETGSIRPGA IGGSKPRQVA TPDVEKKIEE 120
YKRENPGMFS WEIRDRLLKD GHCDRSTVPS VSSISRVLRI KFGKKEDDEE GDKKEEDGEK 180
KAKHSIDGIL GDKGNRLDEG SDVESEPDLP LKRKQRRSRT TFTAEQLEEL EKAFERTHYP 240
DIYTREELAQ RTKLTEARVQ VWFSNRRARW RKQAGANQLA AFNHLLPGGF PPTGMPTLPP 300
YQLPDSTYPT TTISQDGGST VHRPQPLPPS TMHQGGLAAA AAAADTSSAY GARHSFSSYS 360
DSFMNPGAPS NHMNPVSNGL SPQVMSILSN PSAVPPQPQA DFSISPLHGG LDSASSISAS 420
CSQRADSIKP GDSLPTSQSY CPPTYSTTGY SVDPVAGYQY SQYGQTAVDY LAKNVSLSTQ 480
RRMKLGEHSA VLGLLPVETG QAY 503

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologPAX7E1BKL5Bos taurusPredictionMore>>
1:1 orthologPAX7102172220A0A452FU61Capra hircusPredictionMore>>
1:1 orthologPAX75081P23759CPO,CL/PHomo sapiensPublicationMore>>
1:1 orthologPax718509P47239CPOMus musculusPublicationMore>>
1:1 orthologPAX7456574H2PY64Pan troglodytesPredictionMore>>
1:1 orthologPax7A0A1S6QCC5Sus scrofaPredictionMore>>
1:1 orthologPax7500574D3ZRA8Rattus norvegicusPredictionMore>>
1:1 orthologpax7aB3DJI1Danio rerioPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
PAX7c.1451G>A; p.R484HWES and Sanger sequencing26449438
PAX7rs6659735 Genotyping; direct sequencing; and TDT23463464
PAX7c.189614G>C; p.G411R Genotyping; direct sequencing; and TDT23463464
PAX7c.189617G>A; p.G412S Genotyping; direct sequencing; and TDT23463464
PAX7c.62366G>A; p.G466S Genotyping; direct sequencing; and TDT23463464
PAX7c.88401C>T Genotyping; direct sequencing; and TDT23463464
PAX7c.18438C>A Genotyping; direct sequencing; and TDT23463464
PAX7c.957713C>T Genotyping; direct sequencing; and TDT23463464
PAX7c.958083C>A Genotyping; direct sequencing; and TDT23463464
PAX7c.957933C>T Genotyping; direct sequencing; and TDT23463464
PAX7c.72014C>A Genotyping; direct sequencing; and TDT23463464
PAX7c.72317G>A Genotyping; direct sequencing; and TDT23463464
PAX7c.189576C>T; p.P397L Genotyping; direct sequencing; and TDT23463464
PAX7c.958104G>A; p.A3T Genotyping; direct sequencing; and TDT23463464
PAX7c.958140G>A; p.A15T Genotyping; direct sequencing; and TDT23463464
PAX7c.958168G>A; p.G24E Genotyping; direct sequencing; and TDT23463464
PAX7c.961014T>C Genotyping; direct sequencing; and TDT23463464
PAX7c.961088G>T Genotyping; direct sequencing; and TDT23463464
PAX7c.961515C>* Genotyping; direct sequencing; and TDT23463464
PAX7c.29895A>T Genotyping; direct sequencing; and TDT23463464
PAX7c.62129A>C; p.M387L Genotyping; direct sequencing; and TDT23463464
PAX7rs1339062; c.586+15617T>CGWAS 31173442
PAX7c.87G>A; p.Val29ValDirect seqencing31173442
PAX7rs2076020; c.744G>A; p.Glu248GluDirect seqencing31173442
PAX7rs2076019; c.771A>C; p.Thr257ThrDirect seqencing31173442
PAX7rs2743201; c.879A>G; p.Pro293ProDirect seqencing31173442
PAX7rs138007970; c.1155+36G>TDirect seqencing31173442
PAX7rs766325Genotyping and TDT19142206
PAX7c.766C>T; p.Ala259ValGWAS and Sanger sequencing25704602
PAX7c.1396G>A; p.Gly466SerGWAS25081408
PAX7c.1282G>A; p.Asp428AsnGWAS25081408
PAX7c.952+2T>AGWAS25081408
PAX7rs4920524;Genotyping and GWAS27033726
PAX7rs9439714; Genotyping and GWAS27033726
PAX7rs12402156Genotyping and GWAS27033726
PAX7rs6658147Genotyping and GWAS27033726

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specificIDA
GO:0003700 DNA-binding transcription factor activityTAS
GO:0005515 protein bindingIPI
GO:0043565 sequence-specific DNA bindingIDA

GO:Biological Process

GO ID GO Term Evidence
GO:0006338 chromatin remodelingIMP
GO:0006355 regulation of transcription, DNA-templatedTAS
GO:0007519 skeletal muscle tissue developmentIMP
GO:0009887 animal organ morphogenesisTAS
GO:0010453 regulation of cell fate commitmentIMP
GO:0010468 regulation of gene expressionIMP
GO:0014813 skeletal muscle satellite cell commitmentIMP
GO:0021527 spinal cord association neuron differentiationIGI
GO:0021904 dorsal/ventral neural tube patterningIDA
GO:0031062 positive regulation of histone methylationIDA
GO:0031062 positive regulation of histone methylationIGI
GO:0043403 skeletal muscle tissue regenerationIMP
GO:0045944 positive regulation of transcription by RNA polymerase IIIMP
GO:0048663 neuron fate commitmentIGI
GO:0048706 embryonic skeletal system developmentIMP
GO:0051101 regulation of DNA bindingIMP
GO:0051216 cartilage developmentIMP
GO:0060415 muscle tissue morphogenesisIGI
GO:2000288 positive regulation of myoblast proliferationIMP

GO:Cellular Component

GO ID GO Term Evidence
GO:0005634 nucleusIDA
GO:0005667 transcription factor complexTAS

Reactome Pathway

Reactome ID Reactome Term Evidence

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0217 Developmental protein
KW-0238 DNA-binding
KW-0371 Homeobox
KW-0517 Myogenesis
KW-0539 Nucleus
KW-0563 Paired box
KW-1185 Reference proteome
KW-0804 Transcription
KW-0805 Transcription regulation

Interpro

InterPro ID InterPro Term
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR003654 OAR_dom
IPR043182 PAIRED_DNA_bd_dom
IPR001523 Paired_dom
IPR022106 Pax7_C
IPR036388 WH-like_DNA-bd_sf

PROSITE

PROSITE ID PROSITE Term
PS00027 HOMEOBOX_1
PS50071 HOMEOBOX_2
PS50803 OAR
PS00034 PAIRED_1
PS51057 PAIRED_2

Pfam

Pfam ID Pfam Term
PF00046 Homeodomain
PF00292 PAX
PF12360 Pax7

Protein-protein interaction

Protein-miRNA interaction