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UniProtKB - P23760 (PAX3_HUMAN)

Protein

Paired box protein Pax-3

Gene

PAX3

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

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 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi219 – 278HomeoboxPROSITE-ProRule annotationAdd BLAST60

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
  • sequence-specific DNA binding Source: MGI
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

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

Enzyme and pathway databases

ReactomeiR-HSA-3214847 HATs acetylate histones
SignaLinkiP23760
SIGNORiP23760

Names & Taxonomyi

Protein namesi
Recommended name:
Paired box protein Pax-3
Alternative name(s):
HuP2
Gene namesi
Name:PAX3
Synonyms:HUP2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000135903.18
HGNCiHGNC:8617 PAX3
MIMi606597 gene
neXtProtiNX_P23760

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

Waardenburg syndrome 1 (WS1)20 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionWS1 is an autosomal dominant disorder characterized by non-progressive sensorineural deafness, pigmentary disturbances such as frontal white blaze of hair, heterochromia of irides, white eyelashes, leukoderma, and wide bridge of nose owing to lateral displacement of the inner canthus of each eye (dystopia canthorum). WS1 shows variable clinical expression and some affected individuals do not manifest hearing impairment or iris pigmentation disturbances. Dystopia canthorum is the most consistent sign and is found in 98% of the patients.
See also OMIM:193500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00379045F → L in WS1. 1 Publication1
Natural variantiVAR_01753348G → R in WS1. 1 Publication1
Natural variantiVAR_00379350P → L in WS1; important hearing loss. 1 PublicationCorresponds to variant dbSNP:rs104893650EnsemblClinVar.1
Natural variantiVAR_00379456R → L in WS1; associated with meningomyelocele. 1 PublicationCorresponds to variant dbSNP:rs267606931EnsemblClinVar.1
Natural variantiVAR_00379559I → F in WS1. 1 Publication1
Natural variantiVAR_00379659I → N in WS1. 1 Publication1
Natural variantiVAR_00379760V → M in WS1. 2 Publications1
Natural variantiVAR_00379862M → V in WS1. 2 Publications1
Natural variantiVAR_00379963 – 67Missing in WS1. 1 Publication5
Natural variantiVAR_01364073S → L in WS1. 1 Publication1
Natural variantiVAR_01753478V → M in WS1. 1 Publication1
Natural variantiVAR_07961980H → 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_00380081G → A in WS1; originally classified as Waardenburg syndrome type 2. 2 PublicationsCorresponds to variant dbSNP:rs587776586EnsemblClinVar.1
Natural variantiVAR_00380285K → E in WS1. 1 Publication1
Natural variantiVAR_00380399G → D in WS1. 2 PublicationsCorresponds to variant dbSNP:rs1189463428Ensembl.1
Natural variantiVAR_079620223 – 479Missing in WS1. 2 PublicationsAdd BLAST257
Natural variantiVAR_079621234L → P in WS1. 2 Publications1
Natural variantiVAR_003804238F → S in WS1. 1 Publication1
Natural variantiVAR_003805265V → F in WS1. 1 Publication1
Natural variantiVAR_017536266W → C in WS1. 1 Publication1
Natural variantiVAR_017537271R → C in WS1. 1 PublicationCorresponds to variant dbSNP:rs1380858784Ensembl.1
Natural variantiVAR_003806271R → G in WS1. 1 Publication1
Natural variantiVAR_017538271R → H in WS1; associated with K-273 in one family. 3 PublicationsCorresponds to variant dbSNP:rs774528745EnsemblClinVar.1
Natural variantiVAR_017539273R → K in WS1; associated with H-271 in one family; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1020175890Ensembl.1
Natural variantiVAR_013641391Q → H in WS1. 1 Publication1
Waardenburg syndrome 3 (WS3)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionWS3 is an autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, dystopia canthorum and limb anomalies such as hypoplasia of the musculoskeletal system, flexion contractures, fusion of the carpal bones, syndactylies.
See also OMIM:148820
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00379147N → H in WS3. 1 PublicationCorresponds to variant dbSNP:rs104893653EnsemblClinVar.1
Natural variantiVAR_00380184S → F in WS3. 1 PublicationCorresponds to variant dbSNP:rs104893651EnsemblClinVar.1
Natural variantiVAR_01753590Y → H in WS3. 1 PublicationCorresponds to variant dbSNP:rs104893654EnsemblClinVar.1
Craniofacial-deafness-hand syndrome (CDHS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionThought to be an autosomal dominant disease which comprises absence or hypoplasia of the nasal bones, hypoplastic maxilla, small and short nose with thin nares, limited movement of the wrist, short palpebral fissures, ulnar deviation of the fingers, hypertelorism and profound sensory-neural deafness.
See also OMIM:122880
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00379247N → K in CDHS. 1 PublicationCorresponds to variant dbSNP:rs104893652EnsemblClinVar.1
Rhabdomyosarcoma 2 (RMS2)1 Publication
The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving PAX3 is found in rhabdomyosarcoma. Translocation (2;13)(q35;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
A chromosomal aberration involving PAX3 is a cause of rhabdomyosarcoma. Translocation t(2;2)(q35;p23) with NCOA1 generates the NCOA1-PAX3 oncogene consisting of the N-terminus part of PAX3 and the C-terminus part of NCOA1. The fusion protein acts as a transcriptional activator. Rhabdomyosarcoma is the most common soft tissue carcinoma in childhood, representing 5-8% of all malignancies in children.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei319 – 320Breakpoint for translocation to form PAX3-NCOA1 oncogene2

Keywords - Diseasei

Deafness, Disease mutation, Proto-oncogene, Waardenburg syndrome

Organism-specific databases

DisGeNETi5077
GeneReviewsiPAX3
MalaCardsiPAX3
MIMi122880 phenotype
148820 phenotype
193500 phenotype
268220 phenotype
OpenTargetsiENSG00000135903
Orphaneti99756 Alveolar rhabdomyosarcoma
1529 Craniofacial-deafness-hand syndrome
894 Waardenburg syndrome type 1
896 Waardenburg syndrome type 3
PharmGKBiPA32957

Polymorphism and mutation databases

BioMutaiPAX3
DMDMi1172022

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000501781 – 479Paired box protein Pax-3Add BLAST479

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei201Phosphoserine1 Publication1
Modified residuei205Phosphoserine1 Publication1
Modified residuei209Phosphoserine1 Publication1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiP23760
PaxDbiP23760
PeptideAtlasiP23760
PRIDEiP23760
ProteomicsDBi54150
54151 [P23760-2]
54152 [P23760-3]
54153 [P23760-4]
54154 [P23760-5]
54155 [P23760-6]
54156 [P23760-7]

PTM databases

iPTMnetiP23760
PhosphoSitePlusiP23760

Expressioni

Gene expression databases

BgeeiENSG00000135903 Expressed in 66 organ(s), highest expression level in nasal cavity mucosa
CleanExiHS_PAX3
ExpressionAtlasiP23760 baseline and differential
GenevisibleiP23760 HS

Organism-specific databases

HPAiHPA063659
HPA069000

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 Publications

Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi111111, 21 interactors
CORUMiP23760
IntActiP23760, 11 interactors
MINTiP23760
STRINGi9606.ENSP00000375921

Structurei

Secondary structure

1479
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP23760
SMRiP23760
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP23760

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini34 – 161PairedPROSITE-ProRule annotationAdd BLAST128

Sequence similaritiesi

Belongs to the paired homeobox family.Curated

Keywords - Domaini

Homeobox, Paired box

Phylogenomic databases

eggNOGiKOG0849 Eukaryota
ENOG410XS01 LUCA
GeneTreeiENSGT00680000099553
HOGENOMiHOG000230939
HOVERGENiHBG009115
InParanoidiP23760
KOiK09381
OMAiVHQSTLP
OrthoDBiEOG091G0S4E
PhylomeDBiP23760
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
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
PS00034 PAIRED_1, 1 hit
PS51057 PAIRED_2, 1 hit

Sequences (8)i

Sequence statusi: Complete.

This entry describes 8 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform Pax3 (identifier: P23760-1) [UniParc]FASTAAdd to basket
Also known as: Pax3C

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
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
Length:479
Mass (Da):52,968
Last modified:November 1, 1995 - v2
Checksum:i8AFCA674E3ACB4FE
GO
Isoform Pax3A (identifier: P23760-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     196-215: ASAPQSDEGSDIDSEPDLPL → GKRWRLGRRTCWVTWRASAS
     216-479: Missing.

Show »
Length:215
Mass (Da):24,136
Checksum:i3D91C2A5ED028A3A
GO
Isoform Pax3B (identifier: P23760-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     196-206: ASAPQSDEGSD → GKALVSGVSSH
     207-479: Missing.

Show »
Length:206
Mass (Da):22,743
Checksum:i01F6B51388572EE5
GO
Isoform Pax3G (identifier: P23760-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     393-479: MGLLTNHGGV...QYGQSKPWTF → PFIISSQISRK

Show »
Length:403
Mass (Da):44,822
Checksum:i60AF2F51DA96982B
GO
Isoform Pax3H (identifier: P23760-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     393-479: MGLLTNHGGV...QYGQSKPWTF → PFIISSQISLGFKSF

Show »
Length:407
Mass (Da):45,217
Checksum:iC8F3DD809BFC0F51
GO
Isoform 6 (identifier: P23760-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     108-108: Missing.
     475-479: KPWTF → AFHYLKPDIA

Note: No experimental confirmation available.
Show »
Length:483
Mass (Da):53,336
Checksum:i31DAA0369ECC4610
GO
Isoform 7 (identifier: P23760-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     475-479: KPWTF → AFHYLKPDIA

Show »
Length:484
Mass (Da):53,464
Checksum:iFA56CD0432F41644
GO
Isoform Pax3E (identifier: P23760-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     475-479: KPWTF → AFHYLKPDIAWFQILLNTFDKSSGEEEDLEQ

Show »
Length:505
Mass (Da):55,975
Checksum:iE06973C26D9803C3
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti358S → R in AAP13872 (PubMed:14639621).Curated1
Sequence conflicti358S → R in AAP13873 (PubMed:14639621).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00379045F → L in WS1. 1 Publication1
Natural variantiVAR_00379147N → H in WS3. 1 PublicationCorresponds to variant dbSNP:rs104893653EnsemblClinVar.1
Natural variantiVAR_00379247N → K in CDHS. 1 PublicationCorresponds to variant dbSNP:rs104893652EnsemblClinVar.1
Natural variantiVAR_01753348G → R in WS1. 1 Publication1
Natural variantiVAR_00379350P → L in WS1; important hearing loss. 1 PublicationCorresponds to variant dbSNP:rs104893650EnsemblClinVar.1
Natural variantiVAR_00379456R → L in WS1; associated with meningomyelocele. 1 PublicationCorresponds to variant dbSNP:rs267606931EnsemblClinVar.1
Natural variantiVAR_00379559I → F in WS1. 1 Publication1
Natural variantiVAR_00379659I → N in WS1. 1 Publication1
Natural variantiVAR_00379760V → M in WS1. 2 Publications1
Natural variantiVAR_00379862M → V in WS1. 2 Publications1
Natural variantiVAR_00379963 – 67Missing in WS1. 1 Publication5
Natural variantiVAR_01364073S → L in WS1. 1 Publication1
Natural variantiVAR_01753478V → M in WS1. 1 Publication1
Natural variantiVAR_07961980H → 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_00380081G → A in WS1; originally classified as Waardenburg syndrome type 2. 2 PublicationsCorresponds to variant dbSNP:rs587776586EnsemblClinVar.1
Natural variantiVAR_00380184S → F in WS3. 1 PublicationCorresponds to variant dbSNP:rs104893651EnsemblClinVar.1
Natural variantiVAR_00380285K → E in WS1. 1 Publication1
Natural variantiVAR_01753590Y → H in WS3. 1 PublicationCorresponds to variant dbSNP:rs104893654EnsemblClinVar.1
Natural variantiVAR_00380399G → D in WS1. 2 PublicationsCorresponds to variant dbSNP:rs1189463428Ensembl.1
Natural variantiVAR_079620223 – 479Missing in WS1. 2 PublicationsAdd BLAST257
Natural variantiVAR_079621234L → P in WS1. 2 Publications1
Natural variantiVAR_003804238F → S in WS1. 1 Publication1
Natural variantiVAR_003805265V → F in WS1. 1 Publication1
Natural variantiVAR_017536266W → C in WS1. 1 Publication1
Natural variantiVAR_013619270R → C in WS1 and WS3. 3 Publications1
Natural variantiVAR_017537271R → C in WS1. 1 PublicationCorresponds to variant dbSNP:rs1380858784Ensembl.1
Natural variantiVAR_003806271R → G in WS1. 1 Publication1
Natural variantiVAR_017538271R → H in WS1; associated with K-273 in one family. 3 PublicationsCorresponds to variant dbSNP:rs774528745EnsemblClinVar.1
Natural variantiVAR_017539273R → K in WS1; associated with H-271 in one family; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1020175890Ensembl.1
Natural variantiVAR_003807315T → K4 PublicationsCorresponds to variant dbSNP:rs2234675EnsemblClinVar.1
Natural variantiVAR_013641391Q → H in WS1. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_043634108Missing in isoform 6. 1 Publication1
Alternative sequenceiVSP_002355196 – 215ASAPQ…PDLPL → GKRWRLGRRTCWVTWRASAS in isoform Pax3A. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_002357196 – 206ASAPQSDEGSD → GKALVSGVSSH in isoform Pax3B. 2 PublicationsAdd BLAST11
Alternative sequenceiVSP_002358207 – 479Missing in isoform Pax3B. 2 PublicationsAdd BLAST273
Alternative sequenceiVSP_002356216 – 479Missing in isoform Pax3A. 1 PublicationAdd BLAST264
Alternative sequenceiVSP_042004393 – 479MGLLT…KPWTF → PFIISSQISRK in isoform Pax3G. 1 PublicationAdd BLAST87
Alternative sequenceiVSP_042005393 – 479MGLLT…KPWTF → PFIISSQISLGFKSF in isoform Pax3H. 1 PublicationAdd BLAST87
Alternative sequenceiVSP_043635475 – 479KPWTF → AFHYLKPDIA in isoform 6 and isoform 7. 2 Publications5
Alternative sequenceiVSP_044915475 – 479KPWTF → AFHYLKPDIAWFQILLNTFD KSSGEEEDLEQ in isoform Pax3E. Curated5

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY251279 mRNA Translation: AAP13872.1
AY251280 mRNA Translation: AAP13873.1
AK291278 mRNA Translation: BAF83967.1
AC010980 Genomic DNA Translation: AAY14900.1
AC012591 Genomic DNA No translation available.
CH471063 Genomic DNA Translation: EAW70789.1
CH471063 Genomic DNA Translation: EAW70791.1
CH471063 Genomic DNA Translation: EAW70794.1
CH471063 Genomic DNA Translation: EAW70796.1
BC063547 mRNA Translation: AAH63547.1
BC101299 mRNA Translation: AAI01300.1
BC101300 mRNA Translation: AAI01301.1
BC101301 mRNA Translation: AAI01302.1
BC101302 mRNA Translation: AAI01303.1
BC114363 mRNA Translation: AAI14364.1
U12263 Genomic DNA Translation: AAA80573.1
U12259
, U12258, U12260, U12262 Genomic DNA Translation: AAA80574.1
X15043, X15252, X15253 Genomic DNA Translation: CAA33145.1
Z29972 Genomic DNA No translation available.
Z29973 Genomic DNA No translation available.
Z29974 Genomic DNA No translation available.
S69369 mRNA Translation: AAB30167.1
S69370 mRNA Translation: AAB30168.1
AY633656 mRNA Translation: AAT47737.1
S83614 Genomic DNA Translation: AAB21476.1
L10614 Genomic DNA Translation: AAA91849.1
CCDSiCCDS2448.1 [P23760-8]
CCDS2449.1 [P23760-5]
CCDS2450.1 [P23760-4]
CCDS2451.1 [P23760-3]
CCDS42825.1 [P23760-7]
CCDS42826.1 [P23760-1]
CCDS46522.1 [P23760-6]
CCDS46523.1 [P23760-2]
PIRiI54276
I68547
S06960
RefSeqiNP_000429.2, NM_000438.5 [P23760-2]
NP_001120838.1, NM_001127366.2 [P23760-6]
NP_039230.1, NM_013942.4 [P23760-3]
NP_852122.1, NM_181457.3 [P23760-1]
NP_852123.1, NM_181458.3 [P23760-7]
NP_852124.1, NM_181459.3 [P23760-8]
NP_852125.1, NM_181460.3 [P23760-5]
NP_852126.1, NM_181461.3 [P23760-4]
UniGeneiHs.42146

Genome annotation databases

EnsembliENST00000258387; ENSP00000258387; ENSG00000135903 [P23760-3]
ENST00000336840; ENSP00000338767; ENSG00000135903 [P23760-5]
ENST00000344493; ENSP00000342092; ENSG00000135903 [P23760-4]
ENST00000350526; ENSP00000343052; ENSG00000135903 [P23760-1]
ENST00000392069; ENSP00000375921; ENSG00000135903 [P23760-8]
ENST00000392070; ENSP00000375922; ENSG00000135903 [P23760-7]
ENST00000409551; ENSP00000386750; ENSG00000135903 [P23760-6]
ENST00000409828; ENSP00000386817; ENSG00000135903 [P23760-2]
GeneIDi5077
KEGGihsa:5077
UCSCiuc002vmt.3 human [P23760-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY251279 mRNA Translation: AAP13872.1
AY251280 mRNA Translation: AAP13873.1
AK291278 mRNA Translation: BAF83967.1
AC010980 Genomic DNA Translation: AAY14900.1
AC012591 Genomic DNA No translation available.
CH471063 Genomic DNA Translation: EAW70789.1
CH471063 Genomic DNA Translation: EAW70791.1
CH471063 Genomic DNA Translation: EAW70794.1
CH471063 Genomic DNA Translation: EAW70796.1
BC063547 mRNA Translation: AAH63547.1
BC101299 mRNA Translation: AAI01300.1
BC101300 mRNA Translation: AAI01301.1
BC101301 mRNA Translation: AAI01302.1
BC101302 mRNA Translation: AAI01303.1
BC114363 mRNA Translation: AAI14364.1
U12263 Genomic DNA Translation: AAA80573.1
U12259
, U12258, U12260, U12262 Genomic DNA Translation: AAA80574.1
X15043, X15252, X15253 Genomic DNA Translation: CAA33145.1
Z29972 Genomic DNA No translation available.
Z29973 Genomic DNA No translation available.
Z29974 Genomic DNA No translation available.
S69369 mRNA Translation: AAB30167.1
S69370 mRNA Translation: AAB30168.1
AY633656 mRNA Translation: AAT47737.1
S83614 Genomic DNA Translation: AAB21476.1
L10614 Genomic DNA Translation: AAA91849.1
CCDSiCCDS2448.1 [P23760-8]
CCDS2449.1 [P23760-5]
CCDS2450.1 [P23760-4]
CCDS2451.1 [P23760-3]
CCDS42825.1 [P23760-7]
CCDS42826.1 [P23760-1]
CCDS46522.1 [P23760-6]
CCDS46523.1 [P23760-2]
PIRiI54276
I68547
S06960
RefSeqiNP_000429.2, NM_000438.5 [P23760-2]
NP_001120838.1, NM_001127366.2 [P23760-6]
NP_039230.1, NM_013942.4 [P23760-3]
NP_852122.1, NM_181457.3 [P23760-1]
NP_852123.1, NM_181458.3 [P23760-7]
NP_852124.1, NM_181459.3 [P23760-8]
NP_852125.1, NM_181460.3 [P23760-5]
NP_852126.1, NM_181461.3 [P23760-4]
UniGeneiHs.42146

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3CMYX-ray1.95A219-278[»]
ProteinModelPortaliP23760
SMRiP23760
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111111, 21 interactors
CORUMiP23760
IntActiP23760, 11 interactors
MINTiP23760
STRINGi9606.ENSP00000375921

PTM databases

iPTMnetiP23760
PhosphoSitePlusiP23760

Polymorphism and mutation databases

BioMutaiPAX3
DMDMi1172022

Proteomic databases

MaxQBiP23760
PaxDbiP23760
PeptideAtlasiP23760
PRIDEiP23760
ProteomicsDBi54150
54151 [P23760-2]
54152 [P23760-3]
54153 [P23760-4]
54154 [P23760-5]
54155 [P23760-6]
54156 [P23760-7]

Protocols and materials databases

DNASUi5077
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000258387; ENSP00000258387; ENSG00000135903 [P23760-3]
ENST00000336840; ENSP00000338767; ENSG00000135903 [P23760-5]
ENST00000344493; ENSP00000342092; ENSG00000135903 [P23760-4]
ENST00000350526; ENSP00000343052; ENSG00000135903 [P23760-1]
ENST00000392069; ENSP00000375921; ENSG00000135903 [P23760-8]
ENST00000392070; ENSP00000375922; ENSG00000135903 [P23760-7]
ENST00000409551; ENSP00000386750; ENSG00000135903 [P23760-6]
ENST00000409828; ENSP00000386817; ENSG00000135903 [P23760-2]
GeneIDi5077
KEGGihsa:5077
UCSCiuc002vmt.3 human [P23760-1]

Organism-specific databases

CTDi5077
DisGeNETi5077
EuPathDBiHostDB:ENSG00000135903.18
GeneCardsiPAX3
GeneReviewsiPAX3
HGNCiHGNC:8617 PAX3
HPAiHPA063659
HPA069000
MalaCardsiPAX3
MIMi122880 phenotype
148820 phenotype
193500 phenotype
268220 phenotype
606597 gene
neXtProtiNX_P23760
OpenTargetsiENSG00000135903
Orphaneti99756 Alveolar rhabdomyosarcoma
1529 Craniofacial-deafness-hand syndrome
894 Waardenburg syndrome type 1
896 Waardenburg syndrome type 3
PharmGKBiPA32957
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0849 Eukaryota
ENOG410XS01 LUCA
GeneTreeiENSGT00680000099553
HOGENOMiHOG000230939
HOVERGENiHBG009115
InParanoidiP23760
KOiK09381
OMAiVHQSTLP
OrthoDBiEOG091G0S4E
PhylomeDBiP23760
TreeFamiTF351610

Enzyme and pathway databases

ReactomeiR-HSA-3214847 HATs acetylate histones
SignaLinkiP23760
SIGNORiP23760

Miscellaneous databases

ChiTaRSiPAX3 human
EvolutionaryTraceiP23760
GeneWikiiPAX3
GenomeRNAii5077
PROiPR:P23760
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000135903 Expressed in 66 organ(s), highest expression level in nasal cavity mucosa
CleanExiHS_PAX3
ExpressionAtlasiP23760 baseline and differential
GenevisibleiP23760 HS

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
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
PS00034 PAIRED_1, 1 hit
PS51057 PAIRED_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPAX3_HUMAN
AccessioniPrimary (citable) accession number: P23760
Secondary accession number(s): G5E9C1
, Q16448, Q494Z3, Q494Z4, Q53T90, Q6GSJ9, Q86UQ2, Q86UQ3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1991
Last sequence update: November 1, 1995
Last modified: November 7, 2018
This is version 207 of the entry and version 2 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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