UniProtKB - P23760 (PAX3_HUMAN)
Paired box protein Pax-3
PAX3
Functioni
Transcription factor that may regulate cell proliferation, migration and apoptosis. Involved in neural development and myogenesis. Transcriptional activator of MITF, acting synergistically with SOX10 (PubMed:21965087).
2 PublicationsRegions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 34 – 161 | PairedPROSITE-ProRule annotationAdd BLAST | 128 | |
DNA bindingi | 219 – 278 | HomeoboxPROSITE-ProRule annotationAdd BLAST | 60 |
GO - Molecular functioni
- DNA-binding transcription factor activity Source: ProtInc
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- HMG box domain binding Source: Ensembl
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: GO_Central
- sequence-specific DNA binding Source: MGI
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
GO - Biological processi
- anatomical structure development Source: GO_Central
- animal organ morphogenesis Source: ProtInc
- apoptotic process Source: ProtInc
- muscle organ development Source: UniProtKB-KW
- nervous system development Source: UniProtKB-KW
- positive regulation of transcription, DNA-templated Source: MGI
- positive regulation of transcription by RNA polymerase II Source: MGI
- regulation of transcription by RNA polymerase II Source: GO_Central
- sensory perception of sound Source: ProtInc
Keywordsi
Molecular function | Developmental protein, DNA-binding |
Biological process | Myogenesis, Neurogenesis, Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | P23760 |
Reactomei | R-HSA-3214847, HATs acetylate histones |
SignaLinki | P23760 |
SIGNORi | P23760 |
Names & Taxonomyi
Protein namesi | Recommended name: Paired box protein Pax-3Alternative name(s): HuP2 |
Gene namesi | Name:PAX3 Synonyms:HUP2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:8617, PAX3 |
MIMi | 606597, gene |
neXtProti | NX_P23760 |
VEuPathDBi | HostDB:ENSG00000135903 |
Subcellular locationi
Nucleus
- Nucleus 1 Publication
Nucleus
- nucleoplasm Source: HPA
Other locations
- chromatin Source: NTNU_SB
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Waardenburg syndrome 1 (WS1)20 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_003790 | 45 | F → L in WS1. 1 Publication | 1 | |
Natural variantiVAR_017533 | 48 | G → R in WS1. 1 PublicationCorresponds to variant dbSNP:rs1419548558EnsemblClinVar. | 1 | |
Natural variantiVAR_003793 | 50 | P → L in WS1; important hearing loss. 1 PublicationCorresponds to variant dbSNP:rs104893650EnsemblClinVar. | 1 | |
Natural variantiVAR_003794 | 56 | R → L in WS1; associated with meningomyelocele. 1 PublicationCorresponds to variant dbSNP:rs267606931EnsemblClinVar. | 1 | |
Natural variantiVAR_003795 | 59 | I → F in WS1. 1 Publication | 1 | |
Natural variantiVAR_003796 | 59 | I → N in WS1. 1 Publication | 1 | |
Natural variantiVAR_003797 | 60 | V → M in WS1. 2 Publications | 1 | |
Natural variantiVAR_003798 | 62 | M → V in WS1. 2 Publications | 1 | |
Natural variantiVAR_003799 | 63 – 67 | Missing in WS1. 1 Publication | 5 | |
Natural variantiVAR_013640 | 73 | S → L in WS1. 1 PublicationCorresponds to variant dbSNP:rs1553593928EnsemblClinVar. | 1 | |
Natural variantiVAR_017534 | 78 | V → M in WS1. 1 Publication | 1 | |
Natural variantiVAR_079619 | 80 | H → D in WS1; results in decreased transcriptional activation of MITF; no effect on localization to nucleus; no effect on interaction with SOX10. 2 PublicationsCorresponds to variant dbSNP:rs387906947EnsemblClinVar. | 1 | |
Natural variantiVAR_003800 | 81 | G → A in WS1; originally classified as Waardenburg syndrome type 2. 2 PublicationsCorresponds to variant dbSNP:rs587776586EnsemblClinVar. | 1 | |
Natural variantiVAR_003802 | 85 | K → E in WS1. 1 Publication | 1 | |
Natural variantiVAR_003803 | 99 | G → D in WS1. 2 PublicationsCorresponds to variant dbSNP:rs1189463428Ensembl. | 1 | |
Natural variantiVAR_079620 | 223 – 479 | Missing in WS1. 2 PublicationsAdd BLAST | 257 | |
Natural variantiVAR_079621 | 234 | L → P in WS1. 2 Publications | 1 | |
Natural variantiVAR_003804 | 238 | F → S in WS1. 1 Publication | 1 | |
Natural variantiVAR_003805 | 265 | V → F in WS1. 1 Publication | 1 | |
Natural variantiVAR_017536 | 266 | W → C in WS1. 1 Publication | 1 | |
Natural variantiVAR_013619 | 270 | R → C in WS1 and WS3. 3 PublicationsCorresponds to variant dbSNP:rs1228590199EnsemblClinVar. | 1 | |
Natural variantiVAR_017537 | 271 | R → C in WS1. 1 PublicationCorresponds to variant dbSNP:rs1380858784EnsemblClinVar. | 1 | |
Natural variantiVAR_003806 | 271 | R → G in WS1. 1 Publication | 1 | |
Natural variantiVAR_017538 | 271 | R → H in WS1; associated with K-273 in one family. 3 PublicationsCorresponds to variant dbSNP:rs774528745EnsemblClinVar. | 1 | |
Natural variantiVAR_017539 | 273 | R → K in WS1; associated with H-271 in one family; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1020175890EnsemblClinVar. | 1 | |
Natural variantiVAR_013641 | 391 | Q → H in WS1. 1 Publication | 1 |
Waardenburg syndrome 3 (WS3)4 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_003791 | 47 | N → H in WS3. 1 PublicationCorresponds to variant dbSNP:rs104893653EnsemblClinVar. | 1 | |
Natural variantiVAR_003801 | 84 | S → F in WS3. 1 PublicationCorresponds to variant dbSNP:rs104893651EnsemblClinVar. | 1 | |
Natural variantiVAR_017535 | 90 | Y → H in WS3. 1 PublicationCorresponds to variant dbSNP:rs104893654EnsemblClinVar. | 1 | |
Natural variantiVAR_013619 | 270 | R → C in WS1 and WS3. 3 PublicationsCorresponds to variant dbSNP:rs1228590199EnsemblClinVar. | 1 |
Craniofacial-deafness-hand syndrome (CDHS)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_003792 | 47 | N → K in CDHS. 1 PublicationCorresponds to variant dbSNP:rs104893652EnsemblClinVar. | 1 |
Rhabdomyosarcoma 2 (RMS2)1 Publication
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sitei | 319 – 320 | Breakpoint for translocation to form PAX3-NCOA1 oncogene | 2 |
Keywords - Diseasei
Deafness, Disease variant, Proto-oncogene, Waardenburg syndromeOrganism-specific databases
DisGeNETi | 5077 |
GeneReviewsi | PAX3 |
MalaCardsi | PAX3 |
MIMi | 122880, phenotype 148820, phenotype 193500, phenotype 268220, phenotype |
OpenTargetsi | ENSG00000135903 |
Orphaneti | 99756, Alveolar rhabdomyosarcoma 1529, Craniofacial-deafness-hand syndrome 894, Waardenburg syndrome type 1 896, Waardenburg syndrome type 3 |
PharmGKBi | PA32957 |
Miscellaneous databases
Pharosi | P23760, Tbio |
Genetic variation databases
BioMutai | PAX3 |
DMDMi | 1172022 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000050178 | 1 – 479 | Paired box protein Pax-3Add BLAST | 479 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 201 | Phosphoserine1 Publication | 1 | |
Modified residuei | 205 | Phosphoserine1 Publication | 1 | |
Modified residuei | 209 | Phosphoserine1 Publication | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
MassIVEi | P23760 |
MaxQBi | P23760 |
PaxDbi | P23760 |
PeptideAtlasi | P23760 |
PRIDEi | P23760 |
ProteomicsDBi | 33896 54150 [P23760-1] 54151 [P23760-2] 54152 [P23760-3] 54153 [P23760-4] 54154 [P23760-5] 54155 [P23760-6] 54156 [P23760-7] |
PTM databases
iPTMneti | P23760 |
PhosphoSitePlusi | P23760 |
Expressioni
Gene expression databases
Bgeei | ENSG00000135903, Expressed in calcaneal tendon and 85 other tissues |
ExpressionAtlasi | P23760, baseline and differential |
Genevisiblei | P23760, HS |
Organism-specific databases
HPAi | ENSG00000135903, Tissue enhanced (brain, salivary gland, skeletal muscle, skin) |
Interactioni
Subunit structurei
Can bind to DNA as a homodimer or a heterodimer with PAX7.
Interacts with PAXBP1; the interaction links PAX3 to a WDR5-containing histone methyltransferase complex.
Interacts with DAXX.
Interacts with TBX18.
Interacts with SOX10 (PubMed:21965087).
By similarity3 PublicationsBinary interactionsi
P23760
With | #Exp. | IntAct |
---|---|---|
POU3F2 [P20265] | 2 | EBI-1167564,EBI-1167176 |
SOX10 [P56693] | 2 | EBI-1167564,EBI-1167533 |
Isoform Pax3E [P23760-8]
With | #Exp. | IntAct |
---|---|---|
IPO13 [O94829] | 3 | EBI-12105196,EBI-747310 |
KRTAP6-2 [Q3LI66] | 3 | EBI-12105196,EBI-11962084 |
KRTAP8-1 [Q8IUC2] | 3 | EBI-12105196,EBI-10261141 |
GO - Molecular functioni
- HMG box domain binding Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 111111, 37 interactors |
CORUMi | P23760 |
IntActi | P23760, 22 interactors |
MINTi | P23760 |
STRINGi | 9606.ENSP00000375921 |
Miscellaneous databases
RNActi | P23760, protein |
Structurei
Secondary structure
3D structure databases
SMRi | P23760 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P23760 |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 21 | DisorderedSequence analysisAdd BLAST | 21 | |
Regioni | 37 – 93 | PAI subdomainPROSITE-ProRule annotationAdd BLAST | 57 | |
Regioni | 113 – 161 | RED subdomainPROSITE-ProRule annotationAdd BLAST | 49 | |
Regioni | 165 – 228 | DisorderedSequence analysisAdd BLAST | 64 | |
Regioni | 309 – 351 | DisorderedSequence analysisAdd BLAST | 43 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 165 – 190 | Basic and acidic residuesSequence analysisAdd BLAST | 26 | |
Compositional biasi | 209 – 228 | Basic and acidic residuesSequence analysisAdd BLAST | 20 |
Sequence similaritiesi
Keywords - Domaini
Homeobox, Paired boxPhylogenomic databases
eggNOGi | KOG0849, Eukaryota |
GeneTreei | ENSGT00940000156504 |
HOGENOMi | CLU_019281_8_0_1 |
InParanoidi | P23760 |
OMAi | SNPINPA |
OrthoDBi | 1126858at2759 |
PhylomeDBi | P23760 |
TreeFami | TF351610 |
Family and domain databases
CDDi | cd00086, homeodomain, 1 hit cd00131, PAX, 1 hit |
Gene3Di | 1.10.10.10, 2 hits |
InterProi | View protein in InterPro IPR009057, Homeobox-like_sf IPR017970, Homeobox_CS IPR001356, Homeobox_dom IPR043182, PAIRED_DNA-bd_dom IPR001523, Paired_dom IPR022106, Pax7_C IPR043565, PAX_fam IPR036388, WH-like_DNA-bd_sf |
PANTHERi | PTHR45636, PTHR45636, 1 hit |
Pfami | View protein in Pfam PF00046, Homeodomain, 1 hit PF00292, PAX, 1 hit PF12360, Pax7, 1 hit |
PRINTSi | PR00027, PAIREDBOX |
SMARTi | View protein in SMART SM00389, HOX, 1 hit SM00351, PAX, 1 hit |
SUPFAMi | SSF46689, SSF46689, 2 hits |
PROSITEi | View protein in PROSITE PS00027, HOMEOBOX_1, 1 hit PS50071, HOMEOBOX_2, 1 hit PS00034, PAIRED_1, 1 hit PS51057, PAIRED_2, 1 hit |
s (8)i Sequence
Sequence statusi: Complete.
This entry describes 8 produced by isoformsialternative splicing. AlignAdd to basketThis isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MTTLAGAVPR MMRPGPGQNY PRSGFPLEVS TPLGQGRVNQ LGGVFINGRP
60 70 80 90 100
LPNHIRHKIV EMAHHGIRPC VISRQLRVSH GCVSKILCRY QETGSIRPGA
110 120 130 140 150
IGGSKPKQVT TPDVEKKIEE YKRENPGMFS WEIRDKLLKD AVCDRNTVPS
160 170 180 190 200
VSSISRILRS KFGKGEEEEA DLERKEAEES EKKAKHSIDG ILSERASAPQ
210 220 230 240 250
SDEGSDIDSE PDLPLKRKQR RSRTTFTAEQ LEELERAFER THYPDIYTRE
260 270 280 290 300
ELAQRAKLTE ARVQVWFSNR RARWRKQAGA NQLMAFNHLI PGGFPPTAMP
310 320 330 340 350
TLPTYQLSET SYQPTSIPQA VSDPSSTVHR PQPLPPSTVH QSTIPSNPDS
360 370 380 390 400
SSAYCLPSTR HGFSSYTDSF VPPSGPSNPM NPTIGNGLSP QVMGLLTNHG
410 420 430 440 450
GVPHQPQTDY ALSPLTGGLE PTTTVSASCS QRLDHMKSLD SLPTSQSYCP
460 470
PTYSTTGYSM DPVTGYQYGQ YGQSKPWTF
The sequence of this isoform differs from the canonical sequence as follows:
196-215: ASAPQSDEGSDIDSEPDLPL → GKRWRLGRRTCWVTWRASAS
216-479: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
196-206: ASAPQSDEGSD → GKALVSGVSSH
207-479: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
393-479: MGLLTNHGGV...QYGQSKPWTF → PFIISSQISRK
The sequence of this isoform differs from the canonical sequence as follows:
393-479: MGLLTNHGGV...QYGQSKPWTF → PFIISSQISLGFKSF
The sequence of this isoform differs from the canonical sequence as follows:
475-479: KPWTF → AFHYLKPDIAWFQILLNTFDKSSGEEEDLEQ
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 358 | S → R in AAP13872 (PubMed:14639621).Curated | 1 | |
Sequence conflicti | 358 | S → R in AAP13873 (PubMed:14639621).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_003790 | 45 | F → L in WS1. 1 Publication | 1 | |
Natural variantiVAR_003791 | 47 | N → H in WS3. 1 PublicationCorresponds to variant dbSNP:rs104893653EnsemblClinVar. | 1 | |
Natural variantiVAR_003792 | 47 | N → K in CDHS. 1 PublicationCorresponds to variant dbSNP:rs104893652EnsemblClinVar. | 1 | |
Natural variantiVAR_017533 | 48 | G → R in WS1. 1 PublicationCorresponds to variant dbSNP:rs1419548558EnsemblClinVar. | 1 | |
Natural variantiVAR_003793 | 50 | P → L in WS1; important hearing loss. 1 PublicationCorresponds to variant dbSNP:rs104893650EnsemblClinVar. | 1 | |
Natural variantiVAR_003794 | 56 | R → L in WS1; associated with meningomyelocele. 1 PublicationCorresponds to variant dbSNP:rs267606931EnsemblClinVar. | 1 | |
Natural variantiVAR_003795 | 59 | I → F in WS1. 1 Publication | 1 | |
Natural variantiVAR_003796 | 59 | I → N in WS1. 1 Publication | 1 | |
Natural variantiVAR_003797 | 60 | V → M in WS1. 2 Publications | 1 | |
Natural variantiVAR_003798 | 62 | M → V in WS1. 2 Publications | 1 | |
Natural variantiVAR_003799 | 63 – 67 | Missing in WS1. 1 Publication | 5 | |
Natural variantiVAR_013640 | 73 | S → L in WS1. 1 PublicationCorresponds to variant dbSNP:rs1553593928EnsemblClinVar. | 1 | |
Natural variantiVAR_017534 | 78 | V → M in WS1. 1 Publication | 1 | |
Natural variantiVAR_079619 | 80 | H → D in WS1; results in decreased transcriptional activation of MITF; no effect on localization to nucleus; no effect on interaction with SOX10. 2 PublicationsCorresponds to variant dbSNP:rs387906947EnsemblClinVar. | 1 | |
Natural variantiVAR_003800 | 81 | G → A in WS1; originally classified as Waardenburg syndrome type 2. 2 PublicationsCorresponds to variant dbSNP:rs587776586EnsemblClinVar. | 1 | |
Natural variantiVAR_003801 | 84 | S → F in WS3. 1 PublicationCorresponds to variant dbSNP:rs104893651EnsemblClinVar. | 1 | |
Natural variantiVAR_003802 | 85 | K → E in WS1. 1 Publication | 1 | |
Natural variantiVAR_017535 | 90 | Y → H in WS3. 1 PublicationCorresponds to variant dbSNP:rs104893654EnsemblClinVar. | 1 | |
Natural variantiVAR_003803 | 99 | G → D in WS1. 2 PublicationsCorresponds to variant dbSNP:rs1189463428Ensembl. | 1 | |
Natural variantiVAR_079620 | 223 – 479 | Missing in WS1. 2 PublicationsAdd BLAST | 257 | |
Natural variantiVAR_079621 | 234 | L → P in WS1. 2 Publications | 1 | |
Natural variantiVAR_003804 | 238 | F → S in WS1. 1 Publication | 1 | |
Natural variantiVAR_003805 | 265 | V → F in WS1. 1 Publication | 1 | |
Natural variantiVAR_017536 | 266 | W → C in WS1. 1 Publication | 1 | |
Natural variantiVAR_013619 | 270 | R → C in WS1 and WS3. 3 PublicationsCorresponds to variant dbSNP:rs1228590199EnsemblClinVar. | 1 | |
Natural variantiVAR_017537 | 271 | R → C in WS1. 1 PublicationCorresponds to variant dbSNP:rs1380858784EnsemblClinVar. | 1 | |
Natural variantiVAR_003806 | 271 | R → G in WS1. 1 Publication | 1 | |
Natural variantiVAR_017538 | 271 | R → H in WS1; associated with K-273 in one family. 3 PublicationsCorresponds to variant dbSNP:rs774528745EnsemblClinVar. | 1 | |
Natural variantiVAR_017539 | 273 | R → K in WS1; associated with H-271 in one family; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1020175890EnsemblClinVar. | 1 | |
Natural variantiVAR_003807 | 315 | T → K4 PublicationsCorresponds to variant dbSNP:rs2234675EnsemblClinVar. | 1 | |
Natural variantiVAR_013641 | 391 | Q → H in WS1. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_043634 | 108 | Missing in isoform 6. 1 Publication | 1 | |
Alternative sequenceiVSP_002355 | 196 – 215 | ASAPQ…PDLPL → GKRWRLGRRTCWVTWRASAS in isoform Pax3A. 1 PublicationAdd BLAST | 20 | |
Alternative sequenceiVSP_002357 | 196 – 206 | ASAPQSDEGSD → GKALVSGVSSH in isoform Pax3B. 2 PublicationsAdd BLAST | 11 | |
Alternative sequenceiVSP_002358 | 207 – 479 | Missing in isoform Pax3B. 2 PublicationsAdd BLAST | 273 | |
Alternative sequenceiVSP_002356 | 216 – 479 | Missing in isoform Pax3A. 1 PublicationAdd BLAST | 264 | |
Alternative sequenceiVSP_042004 | 393 – 479 | MGLLT…KPWTF → PFIISSQISRK in isoform Pax3G. 1 PublicationAdd BLAST | 87 | |
Alternative sequenceiVSP_042005 | 393 – 479 | MGLLT…KPWTF → PFIISSQISLGFKSF in isoform Pax3H. 1 PublicationAdd BLAST | 87 | |
Alternative sequenceiVSP_043635 | 475 – 479 | KPWTF → AFHYLKPDIA in isoform 6 and isoform 7. 2 Publications | 5 | |
Alternative sequenceiVSP_044915 | 475 – 479 | KPWTF → AFHYLKPDIAWFQILLNTFD KSSGEEEDLEQ in isoform Pax3E. Curated | 5 |
Sequence databases
Genome annotation databases
Ensembli | ENST00000258387; ENSP00000258387; ENSG00000135903 [P23760-3] ENST00000336840; ENSP00000338767; ENSG00000135903 [P23760-5] ENST00000344493; ENSP00000342092; ENSG00000135903 [P23760-4] ENST00000350526; ENSP00000343052; ENSG00000135903 ENST00000392069; ENSP00000375921; ENSG00000135903 [P23760-8] ENST00000392070; ENSP00000375922; ENSG00000135903 [P23760-7] ENST00000409551; ENSP00000386750; ENSG00000135903 [P23760-6] ENST00000409828; ENSP00000386817; ENSG00000135903 [P23760-2] |
GeneIDi | 5077 |
KEGGi | hsa:5077 |
MANE-Selecti | ENST00000392070.7; ENSP00000375922.3; NM_181458.4; NP_852123.1 [P23760-7] |
UCSCi | uc002vmt.3, human [P23760-1] |
Keywords - Coding sequence diversityi
Alternative splicing, Chromosomal rearrangementSimilar proteinsi
Cross-referencesi
Web resourcesi
Atlas of Genetics and Cytogenetics in Oncology and Haematology |
Sequence databases
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
3CMY | X-ray | 1.95 | A | 219-278 | [»] | |
SMRi | P23760 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 111111, 37 interactors |
CORUMi | P23760 |
IntActi | P23760, 22 interactors |
MINTi | P23760 |
STRINGi | 9606.ENSP00000375921 |
PTM databases
iPTMneti | P23760 |
PhosphoSitePlusi | P23760 |
Genetic variation databases
BioMutai | PAX3 |
DMDMi | 1172022 |
Proteomic databases
MassIVEi | P23760 |
MaxQBi | P23760 |
PaxDbi | P23760 |
PeptideAtlasi | P23760 |
PRIDEi | P23760 |
ProteomicsDBi | 33896 54150 [P23760-1] 54151 [P23760-2] 54152 [P23760-3] 54153 [P23760-4] 54154 [P23760-5] 54155 [P23760-6] 54156 [P23760-7] |
Protocols and materials databases
Antibodypediai | 4602, 539 antibodies from 45 providers |
DNASUi | 5077 |
Genome annotation databases
Ensembli | ENST00000258387; ENSP00000258387; ENSG00000135903 [P23760-3] ENST00000336840; ENSP00000338767; ENSG00000135903 [P23760-5] ENST00000344493; ENSP00000342092; ENSG00000135903 [P23760-4] ENST00000350526; ENSP00000343052; ENSG00000135903 ENST00000392069; ENSP00000375921; ENSG00000135903 [P23760-8] ENST00000392070; ENSP00000375922; ENSG00000135903 [P23760-7] ENST00000409551; ENSP00000386750; ENSG00000135903 [P23760-6] ENST00000409828; ENSP00000386817; ENSG00000135903 [P23760-2] |
GeneIDi | 5077 |
KEGGi | hsa:5077 |
MANE-Selecti | ENST00000392070.7; ENSP00000375922.3; NM_181458.4; NP_852123.1 [P23760-7] |
UCSCi | uc002vmt.3, human [P23760-1] |
Organism-specific databases
CTDi | 5077 |
DisGeNETi | 5077 |
GeneCardsi | PAX3 |
GeneReviewsi | PAX3 |
HGNCi | HGNC:8617, PAX3 |
HPAi | ENSG00000135903, Tissue enhanced (brain, salivary gland, skeletal muscle, skin) |
MalaCardsi | PAX3 |
MIMi | 122880, phenotype 148820, phenotype 193500, phenotype 268220, phenotype 606597, gene |
neXtProti | NX_P23760 |
OpenTargetsi | ENSG00000135903 |
Orphaneti | 99756, Alveolar rhabdomyosarcoma 1529, Craniofacial-deafness-hand syndrome 894, Waardenburg syndrome type 1 896, Waardenburg syndrome type 3 |
PharmGKBi | PA32957 |
VEuPathDBi | HostDB:ENSG00000135903 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0849, Eukaryota |
GeneTreei | ENSGT00940000156504 |
HOGENOMi | CLU_019281_8_0_1 |
InParanoidi | P23760 |
OMAi | SNPINPA |
OrthoDBi | 1126858at2759 |
PhylomeDBi | P23760 |
TreeFami | TF351610 |
Enzyme and pathway databases
PathwayCommonsi | P23760 |
Reactomei | R-HSA-3214847, HATs acetylate histones |
SignaLinki | P23760 |
SIGNORi | P23760 |
Miscellaneous databases
BioGRID-ORCSi | 5077, 12 hits in 1056 CRISPR screens |
ChiTaRSi | PAX3, human |
EvolutionaryTracei | P23760 |
GeneWikii | PAX3 |
GenomeRNAii | 5077 |
Pharosi | P23760, Tbio |
PROi | PR:P23760 |
RNActi | P23760, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000135903, Expressed in calcaneal tendon and 85 other tissues |
ExpressionAtlasi | P23760, baseline and differential |
Genevisiblei | P23760, HS |
Family and domain databases
CDDi | cd00086, homeodomain, 1 hit cd00131, PAX, 1 hit |
Gene3Di | 1.10.10.10, 2 hits |
InterProi | View protein in InterPro IPR009057, Homeobox-like_sf IPR017970, Homeobox_CS IPR001356, Homeobox_dom IPR043182, PAIRED_DNA-bd_dom IPR001523, Paired_dom IPR022106, Pax7_C IPR043565, PAX_fam IPR036388, WH-like_DNA-bd_sf |
PANTHERi | PTHR45636, PTHR45636, 1 hit |
Pfami | View protein in Pfam PF00046, Homeodomain, 1 hit PF00292, PAX, 1 hit PF12360, Pax7, 1 hit |
PRINTSi | PR00027, PAIREDBOX |
SMARTi | View protein in SMART SM00389, HOX, 1 hit SM00351, PAX, 1 hit |
SUPFAMi | SSF46689, SSF46689, 2 hits |
PROSITEi | View protein in PROSITE PS00027, HOMEOBOX_1, 1 hit PS50071, HOMEOBOX_2, 1 hit PS00034, PAIRED_1, 1 hit PS51057, PAIRED_2, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | PAX3_HUMAN | |
Accessioni | P23760Primary (citable) accession number: P23760 Secondary accession number(s): G5E9C1 Q86UQ3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1991 |
Last sequence update: | November 1, 1995 | |
Last modified: | February 23, 2022 | |
This is version 226 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families