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P23760 (PAX3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 167. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Paired box protein Pax-3
Alternative name(s):
HuP2
Gene names
Name:PAX3
Synonyms:HUP2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length479 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Transcription factor that may regulate cell proliferation, migration and apoptosis. Involved in neural development and myogenesis. Ref.16

Subunit structure

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 By similarity. Interacts with DAXX. Ref.14 Ref.18

Subcellular location

Nucleus.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8 Ref.11 Ref.15 Ref.19 Ref.20 Ref.21 Ref.22 Ref.23 Ref.25 Ref.26 Ref.27 Ref.30 Ref.31 Ref.32 Ref.34 Ref.36 Ref.37

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.21 Ref.24 Ref.35 Ref.37

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.28

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.

Sequence similarities

Belongs to the paired homeobox family.

Contains 1 homeobox DNA-binding domain.

Contains 1 paired domain.

Ontologies

Keywords
   Biological processMyogenesis
Neurogenesis
Transcription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
Chromosomal rearrangement
Polymorphism
   DiseaseDeafness
Disease mutation
Proto-oncogene
Waardenburg syndrome
   DomainHomeobox
Paired box
   LigandDNA-binding
   Molecular functionDevelopmental protein
   PTMPhosphoprotein
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processapoptotic process

Traceable author statement PubMed 10871843. Source: ProtInc

cell proliferation

Inferred from electronic annotation. Source: Ensembl

developmental pigmentation

Inferred from electronic annotation. Source: Ensembl

heart development

Inferred from electronic annotation. Source: Ensembl

mammary gland specification

Inferred from electronic annotation. Source: Ensembl

muscle organ development

Inferred from electronic annotation. Source: UniProtKB-KW

negative regulation of transcription from RNA polymerase II promoter

Inferred from electronic annotation. Source: Ensembl

neural crest cell migration

Inferred from electronic annotation. Source: Ensembl

neural tube closure

Inferred from electronic annotation. Source: Ensembl

neuron fate commitment

Inferred from electronic annotation. Source: Ensembl

organ morphogenesis

Traceable author statement Ref.21. Source: ProtInc

positive regulation of cell proliferation

Inferred from electronic annotation. Source: Ensembl

positive regulation of transcription from RNA polymerase II promoter

Inferred from direct assay PubMed 11863357. Source: MGI

positive regulation of transcription, DNA-templated

Inferred from direct assay PubMed 11863357. Source: MGI

regulation of somitogenesis

Inferred from electronic annotation. Source: Ensembl

sensory perception of sound

Traceable author statement PubMed 9500554. Source: ProtInc

spinal cord association neuron differentiation

Inferred from electronic annotation. Source: Ensembl

transcription from RNA polymerase II promoter

Traceable author statement PubMed 9500554. Source: ProtInc

   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionRNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity

Inferred from electronic annotation. Source: Ensembl

chromatin binding

Inferred from electronic annotation. Source: Ensembl

protein binding

Inferred from physical interaction PubMed 11029584. Source: IntAct

sequence-specific DNA binding

Inferred from direct assay PubMed 11863357. Source: MGI

sequence-specific DNA binding transcription factor activity

Traceable author statement PubMed 9500554. Source: ProtInc

Complete GO annotation...

Binary interactions

Alternative products

This entry describes 8 isoforms produced by alternative splicing. [Align] [Select]
Isoform Pax3 (identifier: P23760-1)

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.
Isoform Pax3A (identifier: P23760-2)

The sequence of this isoform differs from the canonical sequence as follows:
     196-215: ASAPQSDEGSDIDSEPDLPL → GKRWRLGRRTCWVTWRASAS
     216-479: Missing.
Isoform Pax3B (identifier: P23760-3)

The sequence of this isoform differs from the canonical sequence as follows:
     196-206: ASAPQSDEGSD → GKALVSGVSSH
     207-479: Missing.
Isoform Pax3G (identifier: P23760-4)

The sequence of this isoform differs from the canonical sequence as follows:
     393-479: MGLLTNHGGV...QYGQSKPWTF → PFIISSQISRK
Isoform Pax3H (identifier: P23760-5)

The sequence of this isoform differs from the canonical sequence as follows:
     393-479: MGLLTNHGGV...QYGQSKPWTF → PFIISSQISLGFKSF
Isoform 6 (identifier: P23760-6)

The sequence of this isoform differs from the canonical sequence as follows:
     108-108: Missing.
     475-479: KPWTF → AFHYLKPDIA
Note: No experimental confirmation available.
Isoform 7 (identifier: P23760-7)

The sequence of this isoform differs from the canonical sequence as follows:
     475-479: KPWTF → AFHYLKPDIA
Isoform Pax3E (identifier: P23760-8)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 479479Paired box protein Pax-3
PRO_0000050178

Regions

Domain34 – 161128Paired
DNA binding219 – 27860Homeobox

Sites

Site319 – 3202Breakpoint for translocation to form PAX3-NCOA1 oncogene

Amino acid modifications

Modified residue2011Phosphoserine Ref.17
Modified residue2051Phosphoserine Ref.17
Modified residue2091Phosphoserine Ref.17

Natural variations

Alternative sequence1081Missing in isoform 6.
VSP_043634
Alternative sequence196 – 21520ASAPQ…PDLPL → GKRWRLGRRTCWVTWRASAS in isoform Pax3A.
VSP_002355
Alternative sequence196 – 20611ASAPQSDEGSD → GKALVSGVSSH in isoform Pax3B.
VSP_002357
Alternative sequence207 – 479273Missing in isoform Pax3B.
VSP_002358
Alternative sequence216 – 479264Missing in isoform Pax3A.
VSP_002356
Alternative sequence393 – 47987MGLLT…KPWTF → PFIISSQISRK in isoform Pax3G.
VSP_042004
Alternative sequence393 – 47987MGLLT…KPWTF → PFIISSQISLGFKSF in isoform Pax3H.
VSP_042005
Alternative sequence475 – 4795KPWTF → AFHYLKPDIA in isoform 6 and isoform 7.
VSP_043635
Alternative sequence475 – 4795KPWTF → AFHYLKPDIAWFQILLNTFD KSSGEEEDLEQ in isoform Pax3E.
VSP_044915
Natural variant451F → L in WS1. Ref.8
VAR_003790
Natural variant471N → H in WS3. Ref.21
VAR_003791
Natural variant471N → K in CDHS. Ref.28
VAR_003792
Natural variant481G → R in WS1. Ref.27
VAR_017533
Natural variant501P → L in WS1; important hearing loss. Ref.19
VAR_003793
Natural variant561R → L in WS1; associated with meningomyelocele. Ref.21
VAR_003794
Natural variant591I → F in WS1. Ref.30
VAR_003795
Natural variant591I → N in WS1. Ref.34
VAR_003796
Natural variant601V → M in WS1. Ref.25 Ref.37
VAR_003797
Natural variant621M → V in WS1. Ref.22 Ref.31
VAR_003798
Natural variant63 – 675Missing in WS1.
VAR_003799
Natural variant731S → L in WS1. Ref.36
VAR_013640
Natural variant781V → M in WS1. Ref.26
VAR_017534
Natural variant811G → A in WS1; originally classified as Waardenburg syndrome type 2. Ref.20 Ref.26
VAR_003800
Natural variant841S → F in WS3. Ref.24
VAR_003801
Natural variant851K → E in WS1. Ref.25
VAR_003802
Natural variant901Y → H in WS3. Ref.37
Corresponds to variant rs28939096 [ dbSNP | Ensembl ].
VAR_017535
Natural variant991G → D in WS1. Ref.8 Ref.26
VAR_003803
Natural variant2381F → S in WS1. Ref.25
VAR_003804
Natural variant2651V → F in WS1. Ref.23
VAR_003805
Natural variant2661W → C in WS1. Ref.26
VAR_017536
Natural variant2701R → C in WS1 and WS3. Ref.26 Ref.27 Ref.35
VAR_013619
Natural variant2711R → C in WS1. Ref.26
VAR_017537
Natural variant2711R → G in WS1. Ref.23
VAR_003806
Natural variant2711R → H in WS1; associated with Lys-273 in one family. Ref.26 Ref.27
VAR_017538
Natural variant2731R → K Associated with His-271 in one Waardenburg syndrome type I family. Ref.27
VAR_017539
Natural variant3151T → K. Ref.26 Ref.27 Ref.29 Ref.33
Corresponds to variant rs2234675 [ dbSNP | Ensembl ].
VAR_003807
Natural variant3911Q → H in WS1. Ref.32
VAR_013641

Experimental info

Sequence conflict3581S → R in AAP13872. Ref.1
Sequence conflict3581S → R in AAP13873. Ref.1

Secondary structure

....... 479
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform Pax3 (Pax3C) [UniParc].

Last modified November 1, 1995. Version 2.
Checksum: 8AFCA674E3ACB4FE

FASTA47952,968
        10         20         30         40         50         60 
MTTLAGAVPR MMRPGPGQNY PRSGFPLEVS TPLGQGRVNQ LGGVFINGRP LPNHIRHKIV 

        70         80         90        100        110        120 
EMAHHGIRPC VISRQLRVSH GCVSKILCRY QETGSIRPGA IGGSKPKQVT TPDVEKKIEE 

       130        140        150        160        170        180 
YKRENPGMFS WEIRDKLLKD AVCDRNTVPS VSSISRILRS KFGKGEEEEA DLERKEAEES 

       190        200        210        220        230        240 
EKKAKHSIDG ILSERASAPQ SDEGSDIDSE PDLPLKRKQR RSRTTFTAEQ LEELERAFER 

       250        260        270        280        290        300 
THYPDIYTRE ELAQRAKLTE ARVQVWFSNR RARWRKQAGA NQLMAFNHLI PGGFPPTAMP 

       310        320        330        340        350        360 
TLPTYQLSET SYQPTSIPQA VSDPSSTVHR PQPLPPSTVH QSTIPSNPDS SSAYCLPSTR 

       370        380        390        400        410        420 
HGFSSYTDSF VPPSGPSNPM NPTIGNGLSP QVMGLLTNHG GVPHQPQTDY ALSPLTGGLE 

       430        440        450        460        470 
PTTTVSASCS QRLDHMKSLD SLPTSQSYCP PTYSTTGYSM DPVTGYQYGQ YGQSKPWTF 

« Hide

Isoform Pax3A [UniParc].

Checksum: 3D91C2A5ED028A3A
Show »

FASTA21524,136
Isoform Pax3B [UniParc].

Checksum: 01F6B51388572EE5
Show »

FASTA20622,743
Isoform Pax3G [UniParc].

Checksum: 60AF2F51DA96982B
Show »

FASTA40344,822
Isoform Pax3H [UniParc].

Checksum: C8F3DD809BFC0F51
Show »

FASTA40745,217
Isoform 6 [UniParc].

Checksum: 31DAA0369ECC4610
Show »

FASTA48353,336
Isoform 7 [UniParc].

Checksum: FA56CD0432F41644
Show »

FASTA48453,464
Isoform Pax3E [UniParc].

Checksum: E06973C26D9803C3
Show »

FASTA50555,975

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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]"The mutational spectrum in Waardenburg syndrome."
Tassabehji M., Newton V.E., Liu X.-Z., Brady A., Donnai D., Krajewska-Walasek M., Murday V., Norman A., Obersztyn E., Reardon W., Rice J.C., Trembath R., Wieacker P., Whiteford M., Winter R., Read A.P.
Hum. Mol. Genet. 4:2131-2137(1995) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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 expand/collapse EMBL AC list , 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.
CCDSCCDS2448.1. [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]
PIRI54276.
I68547.
S06960.
RefSeqNP_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]
UniGeneHs.42146.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
3CMYX-ray1.95A219-278[»]
ProteinModelPortalP23760.
SMRP23760. Positions 35-158, 219-277.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111111. 18 interactions.
IntActP23760. 7 interactions.
MINTMINT-202884.
STRING9606.ENSP00000375921.

PTM databases

PhosphoSiteP23760.

Polymorphism databases

DMDM1172022.

Proteomic databases

MaxQBP23760.
PaxDbP23760.
PRIDEP23760.

Protocols and materials databases

DNASU5077.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000258387; 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]
GeneID5077.
KEGGhsa:5077.
UCSCuc002vmt.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

CTD5077.
GeneCardsGC02M223064.
GeneReviewsPAX3.
HGNCHGNC:8617. PAX3.
HPAHPA063659.
MIM122880. phenotype.
148820. phenotype.
193500. phenotype.
268220. phenotype.
606597. gene.
neXtProtNX_P23760.
Orphanet99756. Alveolar rhabdomyosarcoma.
1529. Craniofacial-deafness-hand syndrome.
894. Waardenburg syndrome type 1.
896. Waardenburg syndrome type 3.
PharmGKBPA32957.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG326044.
HOGENOMHOG000230939.
HOVERGENHBG009115.
KOK09381.
OMAVHQSTLP.
OrthoDBEOG7WT431.
PhylomeDBP23760.
TreeFamTF351610.

Enzyme and pathway databases

SignaLinkP23760.

Gene expression databases

ArrayExpressP23760.
BgeeP23760.
CleanExHS_PAX3.
GenevestigatorP23760.

Family and domain databases

Gene3D1.10.10.10. 2 hits.
1.10.10.60. 1 hit.
InterProIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR001523. Paired_dom.
IPR022106. Pax7.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamPF00046. Homeobox. 1 hit.
PF00292. PAX. 1 hit.
PF12360. Pax7. 1 hit.
[Graphical view]
PRINTSPR00027. PAIREDBOX.
SMARTSM00389. HOX. 1 hit.
SM00351. PAX. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 2 hits.
PROSITEPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS00034. PAIRED_1. 1 hit.
PS51057. PAIRED_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSPAX3. human.
EvolutionaryTraceP23760.
GeneWikiPAX3.
GenomeRNAi5077.
NextBio19572.
PROP23760.
SOURCESearch...

Entry information

Entry namePAX3_HUMAN
AccessionPrimary (citable) accession number: P23760
Secondary accession number(s): G5E9C1 expand/collapse secondary AC list , Q16448, Q494Z3, Q494Z4, Q53T90, Q6GSJ9, Q86UQ2, Q86UQ3
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1991
Last sequence update: November 1, 1995
Last modified: July 9, 2014
This is version 167 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM