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Protein

Paired box protein Pax-3

Gene

PAX3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Transcription factor that may regulate cell proliferation, migration and apoptosis. Involved in neural development and myogenesis.1 Publication

Regions

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

GO - Molecular functioni

  • sequence-specific DNA binding Source: MGI
  • transcription factor activity, sequence-specific DNA binding Source: ProtInc

GO - Biological processi

  • animal organ morphogenesis Source: ProtInc
  • apoptotic process Source: ProtInc
  • muscle organ development Source: UniProtKB-KW
  • nervous system development Source: UniProtKB-KW
  • neural crest formation Source: InterPro
  • positive regulation of transcription, DNA-templated Source: MGI
  • positive regulation of transcription from RNA polymerase II promoter Source: MGI
  • sensory perception of sound Source: ProtInc
  • transcription from RNA polymerase II promoter Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Myogenesis, Neurogenesis, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000135903-MONOMER.
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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:8617. PAX3.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Waardenburg syndrome 1 (WS1)17 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 rs104893650dbSNPEnsembl.1
Natural variantiVAR_00379456R → L in WS1; associated with meningomyelocele. 1 PublicationCorresponds to variant rs267606931dbSNPEnsembl.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_00380081G → A in WS1; originally classified as Waardenburg syndrome type 2. 2 PublicationsCorresponds to variant rs587776586dbSNPEnsembl.1
Natural variantiVAR_00380285K → E in WS1. 1 Publication1
Natural variantiVAR_00380399G → D 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 Publication1
Natural variantiVAR_003806271R → G in WS1. 1 Publication1
Natural variantiVAR_017538271R → H in WS1; associated with Lys-273 in one family. 2 PublicationsCorresponds to variant rs774528745dbSNPEnsembl.1
Natural variantiVAR_013641391Q → H in WS1. 1 Publication1
Waardenburg syndrome 3 (WS3)3 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 rs104893653dbSNPEnsembl.1
Natural variantiVAR_00380184S → F in WS3. 1 PublicationCorresponds to variant rs104893651dbSNPEnsembl.1
Natural variantiVAR_01753590Y → H in WS3. 1 PublicationCorresponds to variant rs28939096dbSNPEnsembl.1
Natural variantiVAR_013619270R → C in WS1 and WS3. 3 Publications1
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 rs104893652dbSNPEnsembl.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.

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.
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.

PTM databases

iPTMnetiP23760.
PhosphoSitePlusiP23760.

Expressioni

Gene expression databases

BgeeiENSG00000135903.
CleanExiHS_PAX3.
ExpressionAtlasiP23760. baseline and differential.
GenevisibleiP23760. HS.

Organism-specific databases

HPAiHPA063659.

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.By similarity2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
POU3F2P202652EBI-1167564,EBI-1167176
SOX10P566932EBI-1167564,EBI-1167533

Protein-protein interaction databases

BioGridi111111. 21 interactors.
IntActiP23760. 9 interactors.
MINTiMINT-202884.
STRINGi9606.ENSP00000375921.

Structurei

Secondary structure

1479
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi228 – 240Combined sources13
Helixi246 – 256Combined sources11
Helixi260 – 276Combined sources17

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...

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
Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation
Contains 1 paired domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox, Paired box

Phylogenomic databases

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

Family and domain databases

CDDicd00131. PAX. 1 hit.
Gene3Di1.10.10.10. 2 hits.
1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR001523. Paired_dom.
IPR033038. Pax3.
IPR022106. Pax7_C.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PANTHERiPTHR24329:SF307. PTHR24329:SF307. 1 hit.
PfamiPF00046. Homeobox. 1 hit.
PF00292. PAX. 1 hit.
PF12360. Pax7. 1 hit.
[Graphical view]
PRINTSiPR00027. PAIREDBOX.
SMARTiSM00389. HOX. 1 hit.
SM00351. PAX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 2 hits.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS00034. PAIRED_1. 1 hit.
PS51057. PAIRED_2. 1 hit.
[Graphical view]

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 rs104893653dbSNPEnsembl.1
Natural variantiVAR_00379247N → K in CDHS. 1 PublicationCorresponds to variant rs104893652dbSNPEnsembl.1
Natural variantiVAR_01753348G → R in WS1. 1 Publication1
Natural variantiVAR_00379350P → L in WS1; important hearing loss. 1 PublicationCorresponds to variant rs104893650dbSNPEnsembl.1
Natural variantiVAR_00379456R → L in WS1; associated with meningomyelocele. 1 PublicationCorresponds to variant rs267606931dbSNPEnsembl.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_00380081G → A in WS1; originally classified as Waardenburg syndrome type 2. 2 PublicationsCorresponds to variant rs587776586dbSNPEnsembl.1
Natural variantiVAR_00380184S → F in WS3. 1 PublicationCorresponds to variant rs104893651dbSNPEnsembl.1
Natural variantiVAR_00380285K → E in WS1. 1 Publication1
Natural variantiVAR_01753590Y → H in WS3. 1 PublicationCorresponds to variant rs28939096dbSNPEnsembl.1
Natural variantiVAR_00380399G → D 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 Publication1
Natural variantiVAR_003806271R → G in WS1. 1 Publication1
Natural variantiVAR_017538271R → H in WS1; associated with Lys-273 in one family. 2 PublicationsCorresponds to variant rs774528745dbSNPEnsembl.1
Natural variantiVAR_017539273R → K Associated with His-271 in one Waardenburg syndrome type I family. 1 Publication1
Natural variantiVAR_003807315T → K.4 PublicationsCorresponds to variant rs2234675dbSNPEnsembl.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

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.
IntActiP23760. 9 interactors.
MINTiMINT-202884.
STRINGi9606.ENSP00000375921.

PTM databases

iPTMnetiP23760.
PhosphoSitePlusiP23760.

Polymorphism and mutation databases

BioMutaiPAX3.
DMDMi1172022.

Proteomic databases

MaxQBiP23760.
PaxDbiP23760.
PeptideAtlasiP23760.
PRIDEiP23760.

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.
GeneCardsiPAX3.
GeneReviewsiPAX3.
HGNCiHGNC:8617. PAX3.
HPAiHPA063659.
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

BioCyciZFISH:ENSG00000135903-MONOMER.
ReactomeiR-HSA-3214847. HATs acetylate histones.
SignaLinkiP23760.
SIGNORiP23760.

Miscellaneous databases

ChiTaRSiPAX3. human.
EvolutionaryTraceiP23760.
GeneWikiiPAX3.
GenomeRNAii5077.
PROiP23760.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000135903.
CleanExiHS_PAX3.
ExpressionAtlasiP23760. baseline and differential.
GenevisibleiP23760. HS.

Family and domain databases

CDDicd00131. PAX. 1 hit.
Gene3Di1.10.10.10. 2 hits.
1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR001523. Paired_dom.
IPR033038. Pax3.
IPR022106. Pax7_C.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PANTHERiPTHR24329:SF307. PTHR24329:SF307. 1 hit.
PfamiPF00046. Homeobox. 1 hit.
PF00292. PAX. 1 hit.
PF12360. Pax7. 1 hit.
[Graphical view]
PRINTSiPR00027. PAIREDBOX.
SMARTiSM00389. HOX. 1 hit.
SM00351. PAX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 2 hits.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS00034. PAIRED_1. 1 hit.
PS51057. PAIRED_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPAX3_HUMAN
AccessioniPrimary (citable) accession number: P23760
Secondary accession number(s): G5E9C1
, Q16448, Q494Z3, Q494Z4, Q53T90, Q6GSJ9, Q86UQ2, Q86UQ3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1991
Last sequence update: November 1, 1995
Last modified: November 30, 2016
This is version 190 of the entry and version 2 of the sequence. [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. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.