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P23760

- PAX3_HUMAN

UniProt

P23760 - PAX3_HUMAN

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Protein

Paired box protein Pax-3

Gene

PAX3

Organism
Homo sapiens (Human)
Status
Reviewed - 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

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei319 – 3202Breakpoint for translocation to form PAX3-NCOA1 oncogene

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi219 – 27860HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. chromatin binding Source: Ensembl
  2. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Source: Ensembl
  3. sequence-specific DNA binding Source: MGI
  4. sequence-specific DNA binding transcription factor activity Source: ProtInc

GO - Biological processi

  1. apoptotic process Source: ProtInc
  2. cell proliferation Source: Ensembl
  3. developmental pigmentation Source: Ensembl
  4. heart development Source: Ensembl
  5. mammary gland specification Source: Ensembl
  6. muscle organ development Source: UniProtKB-KW
  7. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
  8. neural crest cell migration Source: Ensembl
  9. neural tube closure Source: Ensembl
  10. neuron fate commitment Source: Ensembl
  11. organ morphogenesis Source: ProtInc
  12. positive regulation of cell proliferation Source: Ensembl
  13. positive regulation of transcription, DNA-templated Source: MGI
  14. positive regulation of transcription from RNA polymerase II promoter Source: MGI
  15. regulation of somitogenesis Source: Ensembl
  16. sensory perception of sound Source: ProtInc
  17. spinal cord association neuron differentiation Source: Ensembl
  18. 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

SignaLinkiP23760.

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
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:8617. PAX3.

Subcellular locationi

GO - Cellular componenti

  1. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Waardenburg syndrome 1 (WS1) [MIM:193500]: WS1 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.17 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti45 – 451F → L in WS1. 1 Publication
VAR_003790
Natural varianti48 – 481G → R in WS1. 1 Publication
VAR_017533
Natural varianti50 – 501P → L in WS1; important hearing loss. 1 Publication
VAR_003793
Natural varianti56 – 561R → L in WS1; associated with meningomyelocele. 1 Publication
VAR_003794
Natural varianti59 – 591I → F in WS1. 1 Publication
VAR_003795
Natural varianti59 – 591I → N in WS1. 1 Publication
VAR_003796
Natural varianti60 – 601V → M in WS1. 2 Publications
VAR_003797
Natural varianti62 – 621M → V in WS1. 2 Publications
VAR_003798
Natural varianti63 – 675Missing in WS1. 1 Publication
VAR_003799
Natural varianti73 – 731S → L in WS1. 1 Publication
VAR_013640
Natural varianti78 – 781V → M in WS1. 1 Publication
VAR_017534
Natural varianti81 – 811G → A in WS1; originally classified as Waardenburg syndrome type 2. 2 Publications
VAR_003800
Natural varianti85 – 851K → E in WS1. 1 Publication
VAR_003802
Natural varianti99 – 991G → D in WS1. 2 Publications
VAR_003803
Natural varianti238 – 2381F → S in WS1. 1 Publication
VAR_003804
Natural varianti265 – 2651V → F in WS1. 1 Publication
VAR_003805
Natural varianti266 – 2661W → C in WS1. 1 Publication
VAR_017536
Natural varianti270 – 2701R → C in WS1 and WS3. 3 Publications
VAR_013619
Natural varianti271 – 2711R → C in WS1. 1 Publication
VAR_017537
Natural varianti271 – 2711R → G in WS1. 1 Publication
VAR_003806
Natural varianti271 – 2711R → H in WS1; associated with Lys-273 in one family. 2 Publications
VAR_017538
Natural varianti391 – 3911Q → H in WS1. 1 Publication
VAR_013641
Waardenburg syndrome 3 (WS3) [MIM:148820]: WS3 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.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti47 – 471N → H in WS3. 1 Publication
VAR_003791
Natural varianti84 – 841S → F in WS3. 1 Publication
VAR_003801
Natural varianti90 – 901Y → H in WS3. 1 Publication
Corresponds to variant rs28939096 [ dbSNP | Ensembl ].
VAR_017535
Natural varianti270 – 2701R → C in WS1 and WS3. 3 Publications
VAR_013619
Craniofacial-deafness-hand syndrome (CDHS) [MIM:122880]: Thought 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti47 – 471N → K in CDHS. 1 Publication
VAR_003792
Rhabdomyosarcoma 2 (RMS2) [MIM:268220]: A 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.
Note: 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.
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.

Keywords - Diseasei

Deafness, Disease mutation, Proto-oncogene, Waardenburg syndrome

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 479479Paired box protein Pax-3PRO_0000050178Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei201 – 2011Phosphoserine1 Publication
Modified residuei205 – 2051Phosphoserine1 Publication
Modified residuei209 – 2091Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiP23760.
PaxDbiP23760.
PRIDEiP23760.

PTM databases

PhosphoSiteiP23760.

Expressioni

Gene expression databases

BgeeiP23760.
CleanExiHS_PAX3.
GenevestigatoriP23760.

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. 20 interactions.
IntActiP23760. 7 interactions.
MINTiMINT-202884.
STRINGi9606.ENSP00000375921.

Structurei

Secondary structure

1
479
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi228 – 24013
Helixi246 – 25611
Helixi260 – 27617

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3CMYX-ray1.95A219-278[»]
ProteinModelPortaliP23760.
SMRiP23760. Positions 35-158, 219-277.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP23760.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini34 – 161128PairedPROSITE-ProRule annotationAdd
BLAST

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

eggNOGiNOG326044.
GeneTreeiENSGT00680000099553.
HOGENOMiHOG000230939.
HOVERGENiHBG009115.
InParanoidiP23760.
KOiK09381.
OMAiVHQSTLP.
OrthoDBiEOG7WT431.
PhylomeDBiP23760.
TreeFamiTF351610.

Family and domain databases

Gene3Di1.10.10.10. 2 hits.
1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR001523. Paired_dom.
IPR022106. Pax7.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti358 – 3581S → R in AAP13872. (PubMed:14639621)Curated
Sequence conflicti358 – 3581S → R in AAP13873. (PubMed:14639621)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti45 – 451F → L in WS1. 1 Publication
VAR_003790
Natural varianti47 – 471N → H in WS3. 1 Publication
VAR_003791
Natural varianti47 – 471N → K in CDHS. 1 Publication
VAR_003792
Natural varianti48 – 481G → R in WS1. 1 Publication
VAR_017533
Natural varianti50 – 501P → L in WS1; important hearing loss. 1 Publication
VAR_003793
Natural varianti56 – 561R → L in WS1; associated with meningomyelocele. 1 Publication
VAR_003794
Natural varianti59 – 591I → F in WS1. 1 Publication
VAR_003795
Natural varianti59 – 591I → N in WS1. 1 Publication
VAR_003796
Natural varianti60 – 601V → M in WS1. 2 Publications
VAR_003797
Natural varianti62 – 621M → V in WS1. 2 Publications
VAR_003798
Natural varianti63 – 675Missing in WS1. 1 Publication
VAR_003799
Natural varianti73 – 731S → L in WS1. 1 Publication
VAR_013640
Natural varianti78 – 781V → M in WS1. 1 Publication
VAR_017534
Natural varianti81 – 811G → A in WS1; originally classified as Waardenburg syndrome type 2. 2 Publications
VAR_003800
Natural varianti84 – 841S → F in WS3. 1 Publication
VAR_003801
Natural varianti85 – 851K → E in WS1. 1 Publication
VAR_003802
Natural varianti90 – 901Y → H in WS3. 1 Publication
Corresponds to variant rs28939096 [ dbSNP | Ensembl ].
VAR_017535
Natural varianti99 – 991G → D in WS1. 2 Publications
VAR_003803
Natural varianti238 – 2381F → S in WS1. 1 Publication
VAR_003804
Natural varianti265 – 2651V → F in WS1. 1 Publication
VAR_003805
Natural varianti266 – 2661W → C in WS1. 1 Publication
VAR_017536
Natural varianti270 – 2701R → C in WS1 and WS3. 3 Publications
VAR_013619
Natural varianti271 – 2711R → C in WS1. 1 Publication
VAR_017537
Natural varianti271 – 2711R → G in WS1. 1 Publication
VAR_003806
Natural varianti271 – 2711R → H in WS1; associated with Lys-273 in one family. 2 Publications
VAR_017538
Natural varianti273 – 2731R → K Associated with His-271 in one Waardenburg syndrome type I family. 1 Publication
VAR_017539
Natural varianti315 – 3151T → K.4 Publications
Corresponds to variant rs2234675 [ dbSNP | Ensembl ].
VAR_003807
Natural varianti391 – 3911Q → H in WS1. 1 Publication
VAR_013641

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei108 – 1081Missing in isoform 6. 1 PublicationVSP_043634
Alternative sequencei196 – 21520ASAPQ…PDLPL → GKRWRLGRRTCWVTWRASAS in isoform Pax3A. 1 PublicationVSP_002355Add
BLAST
Alternative sequencei196 – 20611ASAPQSDEGSD → GKALVSGVSSH in isoform Pax3B. 2 PublicationsVSP_002357Add
BLAST
Alternative sequencei207 – 479273Missing in isoform Pax3B. 2 PublicationsVSP_002358Add
BLAST
Alternative sequencei216 – 479264Missing in isoform Pax3A. 1 PublicationVSP_002356Add
BLAST
Alternative sequencei393 – 47987MGLLT…KPWTF → PFIISSQISRK in isoform Pax3G. 1 PublicationVSP_042004Add
BLAST
Alternative sequencei393 – 47987MGLLT…KPWTF → PFIISSQISLGFKSF in isoform Pax3H. 1 PublicationVSP_042005Add
BLAST
Alternative sequencei475 – 4795KPWTF → AFHYLKPDIA in isoform 6 and isoform 7. 2 PublicationsVSP_043635
Alternative sequencei475 – 4795KPWTF → AFHYLKPDIAWFQILLNTFD KSSGEEEDLEQ in isoform Pax3E. CuratedVSP_044915

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.2. human.
uc002vmv.2. human. [P23760-7]
uc002vmw.2. human. [P23760-5]
uc002vmx.2. human. [P23760-4]
uc002vmy.2. human. [P23760-6]
uc002vmz.2. human. [P23760-3]
uc002vna.2. human. [P23760-2]
uc010fwo.3. human. [P23760-1]

Polymorphism databases

DMDMi1172022.

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:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS2448.1. [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 ]
PIRi I54276.
I68547.
S06960.
RefSeqi NP_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 ]
UniGenei Hs.42146.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
3CMY X-ray 1.95 A 219-278 [» ]
ProteinModelPortali P23760.
SMRi P23760. Positions 35-158, 219-277.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 111111. 20 interactions.
IntActi P23760. 7 interactions.
MINTi MINT-202884.
STRINGi 9606.ENSP00000375921.

PTM databases

PhosphoSitei P23760.

Polymorphism databases

DMDMi 1172022.

Proteomic databases

MaxQBi P23760.
PaxDbi P23760.
PRIDEi P23760.

Protocols and materials databases

DNASUi 5077.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000258387 ; 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 ]
GeneIDi 5077.
KEGGi hsa:5077.
UCSCi uc002vmt.2. human.
uc002vmv.2. human. [P23760-7 ]
uc002vmw.2. human. [P23760-5 ]
uc002vmx.2. human. [P23760-4 ]
uc002vmy.2. human. [P23760-6 ]
uc002vmz.2. human. [P23760-3 ]
uc002vna.2. human. [P23760-2 ]
uc010fwo.3. human. [P23760-1 ]

Organism-specific databases

CTDi 5077.
GeneCardsi GC02M223064.
GeneReviewsi PAX3.
HGNCi HGNC:8617. PAX3.
HPAi HPA063659.
MIMi 122880. phenotype.
148820. phenotype.
193500. phenotype.
268220. phenotype.
606597. gene.
neXtProti NX_P23760.
Orphaneti 99756. Alveolar rhabdomyosarcoma.
1529. Craniofacial-deafness-hand syndrome.
894. Waardenburg syndrome type 1.
896. Waardenburg syndrome type 3.
PharmGKBi PA32957.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG326044.
GeneTreei ENSGT00680000099553.
HOGENOMi HOG000230939.
HOVERGENi HBG009115.
InParanoidi P23760.
KOi K09381.
OMAi VHQSTLP.
OrthoDBi EOG7WT431.
PhylomeDBi P23760.
TreeFami TF351610.

Enzyme and pathway databases

SignaLinki P23760.

Miscellaneous databases

ChiTaRSi PAX3. human.
EvolutionaryTracei P23760.
GeneWikii PAX3.
GenomeRNAii 5077.
NextBioi 19572.
PROi P23760.
SOURCEi Search...

Gene expression databases

Bgeei P23760.
CleanExi HS_PAX3.
Genevestigatori P23760.

Family and domain databases

Gene3Di 1.10.10.10. 2 hits.
1.10.10.60. 1 hit.
InterProi IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR001523. Paired_dom.
IPR022106. Pax7.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view ]
Pfami PF00046. Homeobox. 1 hit.
PF00292. PAX. 1 hit.
PF12360. Pax7. 1 hit.
[Graphical view ]
PRINTSi PR00027. PAIREDBOX.
SMARTi SM00389. HOX. 1 hit.
SM00351. PAX. 1 hit.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 2 hits.
PROSITEi PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS00034. PAIRED_1. 1 hit.
PS51057. PAIRED_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Expression of PAX 3 alternatively spliced transcripts and identification of two new isoforms in human tumors of neural crest origin."
    Parker C.J., Shawcross S.G., Li H., Wang Q.-Y., Herrington C.S., Kumar S., MacKie R.M., Prime W., Renne I.G., Sisley K., Kumar P.
    Int. J. Cancer 108:314-320(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS PAX3G AND PAX3H), ALTERNATIVE SPLICING.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 7).
  3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS PAX3B; 6 AND 7).
    Tissue: Skin.
  6. "Genomic organization of the human PAX3 gene: DNA sequence analysis of the region disrupted in alveolar rhabdomyosarcoma."
    Macina R.A., Barr F.G., Galili N., Riethman H.C.
    Genomics 26:1-8(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-29 AND 197-479.
  7. "Conservation of the paired domain in metazoans and its structure in three isolated human genes."
    Burri M., Tromvoukis Y., Bopp D., Frigerio G., Noll M.
    EMBO J. 8:1183-1190(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 30-195.
  8. "PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse."
    Tassabehji M., Newton V.E., Leverton K., Turnbull K., Seemanova E., Kunze J., Sperling K., Strachan T., Read A.P.
    Hum. Mol. Genet. 3:1069-1074(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 196-392, VARIANTS WS1 LEU-45 AND ASP-99.
  9. "Isolation of two isoforms of the PAX3 gene transcripts and their tissue-specific alternative expression in human adult tissues."
    Tsukamoto K., Nakamura Y., Niikawa N.
    Hum. Genet. 93:270-274(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS PAX3A AND PAX3B).
  10. "Gene expression signatures identify rhabdomyosarcoma subtypes and detect a novel t(2;2)(q35;p23) translocation fusing PAX3 to NCOA1."
    Wachtel M., Dettling M., Koscielniak E., Stegmaier S., Treuner J., Simon-Klingenstein K., Buehlmann P., Niggli F.K., Schaefer B.W.
    Cancer Res. 64:5539-5545(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE OF 1-319 (ISOFORM 6/7), CHROMOSOMAL TRANSLOCATION WITH NCOA1.
  11. "Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene."
    Tassabehji M., Read A.P., Newton V.E., Harris R., Balling R., Gruss P., Strachan T.
    Nature 355:635-636(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 56-74, VARIANT WS1 63-ALA--ILE-67 DEL.
  12. Lalwani A.K., Ploplis B., Fex J., Grundfast K.M., San Agustin T.B., Wilcox E.R.
    Submitted (MAR-1996) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE OF 265-319.
  13. "Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma."
    Galili N., Davis R.J., Fredericks W.J., Mukhopadhyay S., Rauscher F.J. III, Emanuel B.S., Rovera G., Barr F.G.
    Nat. Genet. 5:230-235(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHROMOSOMAL TRANSLOCATION WITH FOXO1.
  14. "The Pax3-FKHR oncoprotein is unresponsive to the Pax3-associated repressor hDaxx."
    Hollenbach A.D., Sublett J.E., McPherson C.J., Grosveld G.
    EMBO J. 18:3702-3711(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH DAXX.
  15. "A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family."
    Morell R., Friedman T.B., Moeljopawiro S., Hartono S., Asher J.H. Jr.
    Hum. Mol. Genet. 1:243-247(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN WS1.
  16. "Functional analysis of alternative isoforms of the transcription factor PAX3 in melanocytes in vitro."
    Wang Q., Kumar S., Slevin M., Kumar P.
    Cancer Res. 66:8574-8580(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: ALTERNATIVE SPLICING, FUNCTION.
  17. "Identification of serines 201 and 209 as sites of Pax3 phosphorylation and the altered phosphorylation status of Pax3-FOXO1 during early myogenic differentiation."
    Dietz K.N., Miller P.J., Iyengar A.S., Loupe J.M., Hollenbach A.D.
    Int. J. Biochem. Cell Biol. 43:936-945(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION AT SER-201; SER-205 AND SER-209.
  18. "Structural basis for DNA recognition by the human PAX3 homeodomain."
    Birrane G., Soni A., Ladias J.A.
    Biochemistry 48:1148-1155(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (1.95 ANGSTROMS) OF 219-278 IN COMPLEX WITH DNA, SUBUNIT.
  19. "An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome."
    Baldwin C.T., Hoth C.F., Amos J.A., Da-Silva E.O., Milunsky A.
    Nature 355:637-638(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT WS1 LEU-50.
  20. "Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2."
    Tassabehji M., Read A.P., Newton V.E., Patton M., Gruss P., Harris R., Strachan T.
    Nat. Genet. 3:26-30(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT WS1 ALA-81.
  21. "Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I)."
    Hoth C.F., Milunsky A., Lipsky N., Sheffer R., Clarren S.K., Baldwin C.T.
    Am. J. Hum. Genet. 52:455-462(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS WS3 HIS-47 AND WS1 LEU-56.
  22. "A single base pair substitution within the paired box of PAX3 in an individual with Waardenburg syndrome type 1 (WS1)."
    Pierpont J.W., Doolan L.D., Amann K., Snead G.R., Erickson R.P.
    Hum. Mutat. 4:227-228(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT WS1 VAL-62.
  23. "Further elucidation of the genomic structure of PAX3, and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type 1 in two families."
    Lalwani A.K., Brister J.R., Fex J., Grundfast K.M., Ploplis B., San Agustin T.B., Wilcox E.R.
    Am. J. Hum. Genet. 56:75-83(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS WS1 PHE-265 AND GLY-271.
  24. "Homozygosity for Waardenburg syndrome."
    Zlotogora J., Lerer I., Bar-David S., Ergaz Z., Abeliovich D.
    Am. J. Hum. Genet. 56:1173-1178(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT WS3 PHE-84.
  25. "Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature."
    Baldwin C.T., Hoth C.F., Macina R.A., Milunsky A.
    Am. J. Med. Genet. 58:115-122(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS WS1 MET-60; GLU-85 AND SER-238.
  26. Cited for: VARIANTS WS1 MET-78; ALA-81; ASP-99; CYS-266; CYS-270; CYS-271 AND HIS-271, VARIANT LYS-315.
  27. "Phenotypic variation in Waardenburg syndrome: mutational heterogeneity, modifier genes or polygenic background?"
    Pandya A., Xia X.-J., Landa B.L., Arnos K.S., Israel J., Lloyd J., James A.L., Diehl S.R., Blanton S.H., Nance W.E.
    Hum. Mol. Genet. 5:497-502(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS WS1 ARG-48; CYS-270 AND HIS-271, VARIANTS LYS-273 AND LYS-315.
  28. "Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome."
    Asher J.H. Jr., Sommer A., Morell R., Friedman T.B.
    Hum. Mutat. 7:30-35(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CDHS LYS-47.
  29. "PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida."
    Hol F.A., Geurds M.P.A., Chatkupt S., Shugart Y.Y., Balling R., Schrander-Stumpel C.T.R.M., Johnson W.G., Hamel B.C.J., Mariman E.C.M.
    J. Med. Genet. 33:655-660(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT LYS-315.
  30. "Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1."
    Soejima H., Fujimoto M., Tsukamoto K., Matsumoto N., Yoshiura K., Fukushima Y., Jinno Y., Niikawa N.
    Hum. Mutat. 9:177-180(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT WS1 PHE-59.
  31. "Identification of two PAX3 mutations causing Waardenburg syndrome, one within the paired domain (M62V) and the other downstream of the homeodomain (Q282X)."
    Hol F.A., Geurds M.P.A., Cremers C.W.R.J., Hamel B.C.J., Mariman E.C.M.
    Hum. Mutat. Suppl. 1:S145-S147(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT WS1 VAL-62.
  32. "Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7."
    Carey M.L., Friedman T.B., Asher J.H. Jr., Innis J.W.
    J. Med. Genet. 35:248-250(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT WS1 HIS-391.
  33. "A PAX3 polymorphism (T315K) in a family exhibiting Waardenburg syndrome type 2."
    Wang C., Kim E., Attaie A., Smith T.N., Wilcox E.R., Lalwani A.K.
    Mol. Cell. Probes 12:55-57(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT LYS-315.
  34. "A novel missense mutation Ile59Asn in the PAX3 gene in a family with Waardenburg syndrome type I."
    Markova T.G., Shevtsov S.P., Moskolenko L.N., Lantsov A.A., Schwartz E.I.
    Hum. Mutat. 13:85-85(1999)
    Cited for: VARIANT WS1 ASN-59.
  35. Bottani A., Antonarakis S.E., Blouin J.-L.
    Submitted (MAY-1999) to UniProtKB
    Cited for: VARIANT WS3 CYS-270.
  36. "Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with Waardenburg syndrome type I."
    Sotirova V.N., Rezaie T.M., Khoshsorour M.M., Sarfarazi M.
    Ophthalmic Genet. 21:25-28(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT WS1 LEU-73.
  37. "Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome."
    Wollnik B., Tukel T., Uyguner O., Ghanbari A., Kayserili H., Emiroglu M., Yuksel-Apak M.
    Am. J. Med. Genet. A 122:42-45(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT WS1 MET-60, VARIANT WS3 HIS-90.

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: October 29, 2014
This is version 169 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

External Data

Dasty 3