P23760 (PAX3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Paired box protein Pax-3

Alternative name(s):
HuP2

Gene names

Name:	PAX3
Synonyms:	HUP2

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	479 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Probable transcription factor associated with development of alveolar rhabdomyosarcoma.
Subunit structure	Can bind to DNA as a heterodimer with PAX7. Interacts with DAXX. Ref.13
Subcellular location	Nucleus.
Involvement in disease	Defects in PAX3 are the cause of Waardenburg syndrome type 1 (WS1) [MIM:193500]. WS1 is an autosomal dominant disorder characterized by wide bridge of nose owing to lateral displacement of the inner canthus of each eye (dystopia canthorum), pigmentary disturbances such as frontal white blaze of hair, heterochromia of irides, white eyelashes, leukoderma and sensorineural deafness. The syndrome shows variable clinical expression and some affected individuals do not manifest hearing impairment. Ref.7 Ref.10 Ref.14 Ref.15 Ref.16 Ref.17 Ref.18 Ref.19 Ref.21 Ref.22 Ref.23 Ref.26 Ref.27 Ref.28 Ref.30 Ref.32 Ref.33 Defects in PAX3 are the cause of Waardenburg syndrome type 3 (WS3) [MIM:148820]; also known as Klein-Waardenburg syndrome or Waardenburg syndrome with upper limb anomalies or white forelock with malformations. WS3 is a very rare autosomal dominant disorder, which shares many of the characteristics of WS1. Patients additionally present with musculoskeletal abnormalities. Defects in PAX3 are the cause of craniofacial-deafness-hand syndrome (CDHS) [MIM:122880]. CDHS is 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. Ref.24 Defects in PAX3 are a cause of rhabdomyosarcoma type 2 (RMS2) [MIM:268220]. It is a form of rhabdomyosarcoma, a highly malignant tumor of striated muscle derived from primitive mesenchimal 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=A chromosomal aberration involving PAX3 is found in rhabdomyosarcoma. Translocation (2;13)(q35;q14) with FOXO1. The resulting protein is a transcriptional activator. Note=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 process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Chromosomal rearrangement Polymorphism
Disease	Deafness Disease mutation Proto-oncogene Waardenburg syndrome
Domain	Homeobox Paired box
Ligand	DNA-binding
Molecular function	Developmental protein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	apoptotic process Traceable author statement. Source: ProtInc organ morphogenesis Traceable author statement. Source: ProtInc positive regulation of transcription from RNA polymerase II promoter Inferred from direct assay. Source: MGI sensory perception of sound Traceable author statement. Source: ProtInc transcription from RNA polymerase II promoter Traceable author statement. Source: ProtInc
Cellular component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	protein binding Inferred from physical interaction. Source: IntAct sequence-specific DNA binding Inferred from direct assay. Source: MGI sequence-specific DNA binding transcription factor activity Traceable author statement. Source: ProtInc
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
POU3F2	P20265	2	EBI-1167564,EBI-1167176
SOX10	P56693	2	EBI-1167564,EBI-1167533

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]

Isoform Pax3 (identifier: P23760-1)

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

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 479

479

Paired box protein Pax-3

PRO_0000050178

Regions

Domain

34 – 161

128

Paired

DNA binding

219 – 278

60

Homeobox

Sites

Site

319 – 320

2

Breakpoint for translocation to form PAX3-NCOA1 oncogene

Natural variations

Alternative sequence

196 – 215

20

ASAPQ…PDLPL → GKRWRLGRRTCWVTWRASAS in isoform Pax3A.

VSP_002355

Alternative sequence

196 – 206

11

ASAPQSDEGSD → GKALVSGVSSH in isoform Pax3B.

VSP_002357

Alternative sequence

207 – 479

273

Missing in isoform Pax3B.

VSP_002358

Alternative sequence

216 – 479

264

Missing in isoform Pax3A.

VSP_002356

Alternative sequence

393 – 479

87

MGLLT…KPWTF → PFIISSQISRK in isoform Pax3G.

VSP_042004

Alternative sequence

393 – 479

87

MGLLT…KPWTF → PFIISSQISLGFKSF in isoform Pax3H.

VSP_042005

Natural variant

45

1

F → L in WS1. Ref.7

VAR_003790

Natural variant

47

1

N → H in WS3. Ref.17

VAR_003791

Natural variant

47

1

N → K in CDHS. Ref.24

VAR_003792

Natural variant

48

1

G → R in WS1. Ref.23

VAR_017533

Natural variant

50

1

P → L in WS1; important hearing loss. Ref.15

VAR_003793

Natural variant

56

1

R → L in WS1; associated with meningomyelocele. Ref.17

VAR_003794

Natural variant

59

1

I → F in WS1. Ref.26

VAR_003795

Natural variant

59

1

I → N in WS1. Ref.30

VAR_003796

Natural variant

60

1

V → M in WS1. Ref.21 Ref.33

VAR_003797

Natural variant

62

1

M → V in WS1. Ref.18 Ref.27

VAR_003798

Natural variant

63 – 67

5

Missing in WS1.

VAR_003799

Natural variant

73

1

S → L in WS1. Ref.32

VAR_013640

Natural variant

78

1

V → M in WS1. Ref.22

VAR_017534

Natural variant

81

1

G → A in WS1; originally classified as Waardenburg syndrome type 2. Ref.16 Ref.22

VAR_003800

Natural variant

84

1

S → F in WS3. Ref.20

VAR_003801

Natural variant

85

1

K → E in WS1. Ref.21

VAR_003802

Natural variant

90

1

Y → H in WS3. Ref.33
Corresponds to variant rs28939096 [ dbSNP | Ensembl ].

VAR_017535

Natural variant

99

1

G → D in WS1. Ref.7 Ref.22

VAR_003803

Natural variant

238

1

F → S in WS1. Ref.21

VAR_003804

Natural variant

265

1

V → F in WS1. Ref.19

VAR_003805

Natural variant

266

1

W → C in WS1. Ref.22

VAR_017536

Natural variant

270

1

R → C in WS1 and WS3. Ref.22 Ref.23 Ref.31

VAR_013619

Natural variant

271

1

R → C in WS1. Ref.22

VAR_017537

Natural variant

271

1

R → G in WS1. Ref.19

VAR_003806

Natural variant

271

1

R → H in WS1; associated with Lys-273 in one family. Ref.22 Ref.23

VAR_017538

Natural variant

273

1

R → K Associated with His-271 in one Waardenburg syndrome type I family. Ref.23

VAR_017539

Natural variant

315

1

T → K. Ref.22 Ref.23 Ref.25 Ref.29
Corresponds to variant rs2234675 [ dbSNP | Ensembl ].

VAR_003807

Natural variant

391

1

Q → H in WS1. Ref.28

VAR_013641

Experimental info

Sequence conflict

108

1

Missing in AAT47737. Ref.9

Sequence conflict

358

1

S → R in AAP13872. Ref.1

Sequence conflict

358

1

S → R in AAP13873. Ref.1

Secondary structure

1

.

.

.

.

.

.

.

479

Helix Strand Turn

Details...

Helix

228 – 240

13

Helix

246 – 256

11

Helix

260 – 276

17

Sequences

	Sequence		Length	Mass (Da)
	Isoform Pax3 [UniParc]. Last modified November 1, 1995. Version 2. Checksum: 8AFCA674E3ACB4FE	FASTA	479	52,968
	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
	Isoform Pax3A [UniParc]. Checksum: 3D91C2A5ED028A3A	FASTA	215	24,136
	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 EKKAKHSIDG ILSERGKRWR LGRRTCWVTW RASAS
	Isoform Pax3B [UniParc]. Checksum: 01F6B51388572EE5	FASTA	206	22,743
	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 EKKAKHSIDG ILSERGKALV SGVSSH
	Isoform Pax3G [UniParc]. Checksum: 60AF2F51DA96982B	FASTA	403	44,822
	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 HGFSSYTDSF VPPSGPSNPM NPTIGNGLSP QVPFIISSQI SRK
	Isoform Pax3H [UniParc]. Checksum: C8F3DD809BFC0F51	FASTA	407	45,217
	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 HGFSSYTDSF VPPSGPSNPM NPTIGNGLSP QVPFIISSQI SLGFKSF

References

	« Hide 'large scale' referencesShow '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: 14639621] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS PAX3G AND PAX3H), ALTERNATIVE SPLICING.
[2]	"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: 15815621] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	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. , 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].
[4]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM PAX3B). Tissue: Skin.
[5]	"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: 7782066] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-29 AND 197-479.
[6]	"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: 2501086] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 30-195.
[7]	"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: 7981674] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 196-392, VARIANTS WS1 LEU-45 AND ASP-99.
[8]	"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: 7545913] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (PAX3A AND PAX3B).
[9]	"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: 15313887] [Abstract] Cited for: NUCLEOTIDE SEQUENCE OF 1-319, CHROMOSOMAL TRANSLOCATION WITH NCOA1.
[10]	"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: 1347148] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 56-74, VARIANT WS1 63-ALA--ILE-67 DEL.
[11]	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.
[12]	"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: 8275086] [Abstract] Cited for: CHROMOSOMAL TRANSLOCATION WITH FOXO1.
[13]	"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: 10393185] [Abstract] Cited for: INTERACTION WITH DAXX.
[14]	"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: 1303193] [Abstract] Cited for: INVOLVEMENT IN WS1.
[15]	"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: 1347149] [Abstract] Cited for: VARIANT WS1 LEU-50.
[16]	"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: 8490648] [Abstract] Cited for: VARIANT WS1 ALA-81.
[17]	"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: 8447316] [Abstract] Cited for: VARIANTS WS3 HIS-47 AND WS1 LEU-56.
[18]	"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: 7833953] [Abstract] Cited for: VARIANT WS1 VAL-62.
[19]	"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: 7825605] [Abstract] Cited for: VARIANTS WS1 PHE-265 AND GLY-271.
[20]	"Homozygosity for Waardenburg syndrome." Zlotogora J., Lerer I., Bar-David S., Ergaz Z., Abeliovich D. Am. J. Hum. Genet. 56:1173-1178(1995) [PubMed: 7726174] [Abstract] Cited for: VARIANT WS3 PHE-84.
[21]	"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: 8533800] [Abstract] Cited for: VARIANTS WS1 MET-60; GLU-85 AND SER-238.
[22]	"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: 8589691] [Abstract] Cited for: VARIANTS WS1 MET-78; ALA-81; ASP-99; CYS-266; CYS-270; CYS-271 AND HIS-271, VARIANT LYS-315.
[23]	"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: 8845842] [Abstract] Cited for: VARIANTS WS1 ARG-48; CYS-270 AND HIS-271, VARIANTS LYS-273 AND LYS-315.
[24]	"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: 8664898] [Abstract] Cited for: VARIANT CDHS LYS-47.
[25]	"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: 8863157] [Abstract] Cited for: VARIANT LYS-315.
[26]	"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: 9067759] [Abstract] Cited for: VARIANT WS1 PHE-59.
[27]	"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: 9452070] [Abstract] Cited for: VARIANT WS1 VAL-62.
[28]	"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: 9541113] [Abstract] Cited for: VARIANT WS1 HIS-391.
[29]	"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: 9584079] [Abstract] Cited for: VARIANT LYS-315.
[30]	"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.
[31]	Bottani A., Antonarakis S.E., Blouin J.-L. Submitted (MAY-1999) to UniProtKB Cited for: VARIANT WS3 CYS-270.
[32]	"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: 10779847] [Abstract] Cited for: VARIANT WS1 LEU-73.
[33]	"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: 12949970] [Abstract] Cited for: VARIANT WS1 MET-60, VARIANT WS3 HIS-90.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

GeneReviews

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

AY251279 mRNA. Translation: AAP13872.1.
AY251280 mRNA. Translation: AAP13873.1.
AC010980 Genomic DNA. Translation: AAY14900.1.
CH471063 Genomic DNA. Translation: EAW70789.1.
CH471063 Genomic DNA. Translation: EAW70791.1.
BC063547 mRNA. Translation: AAH63547.1.
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.

IPI

IPI00012896.
IPI00219092.
IPI00219093.

PIR

I54276.
I68547.
S06960.

RefSeq

NP_000429.2. NM_000438.5.
NP_039230.1. NM_013942.4.
NP_852122.1. NM_181457.3.

UniGene

Hs.42146.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
3CMY	X-ray	1.95	A	219-278	[»]

ProteinModelPortal

P23760.

SMR

P23760. Positions 35-158, 219-277.

ModBase

Search...

Protein-protein interaction databases

IntAct

P23760. 7 interactions.

MINT

MINT-202884.

STRING

P23760.

PTM databases

PhosphoSite

P23760.

Polymorphism databases

DMDM

1172022.

Proteomic databases

PRIDE

P23760.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000350526; ENSP00000343052; ENSG00000135903.

GeneID

5077.

KEGG

hsa:5077.

UCSC

uc010fwo.1. human.

Organism-specific databases

CTD

5077.

GeneCards

GC02M223029.

HGNC

HGNC:8617. PAX3.

HPA

CAB013466.

MIM

122880. phenotype.
148820. phenotype.
193500. phenotype.
268220. phenotype.
606597. gene.

neXtProt

NX_P23760.

Orphanet

99756. Alveolar rhabdomyosarcoma.
1529. Craniofacial-deafness-hand syndrome.
894. Waardenburg syndrome type 1.
896. Waardenburg syndrome type 3.

PharmGKB

PA32957.

GenAtlas

Search...

Phylogenomic databases

eggNOG

prNOG14419.

HOVERGEN

HBG009115.

Gene expression databases

ArrayExpress

P23760.

Bgee

P23760.

CleanEx

HS_PAX3.

Genevestigator

P23760.

GermOnline

ENSG00000135903. Homo sapiens.

Family and domain databases

InterPro

IPR001356. Homeobox.
IPR017970. Homeobox_CS.
IPR009057. Homeodomain-like.
IPR012287. Homeodomain-rel.
IPR001523. Paired_box_N.
IPR022106. Pax7.
IPR011991. WHTH_trsnscrt_rep_DNA-bd.
[Graphical view]

Gene3D

G3DSA:1.10.10.60. Homeodomain-rel. 1 hit.
G3DSA:1.10.10.10. Wing_hlx_DNA_bd. 2 hits.

KO

K09381.

Pfam

PF00046. Homeobox. 1 hit.
PF00292. PAX. 1 hit.
PF12360. Pax7. 1 hit.
[Graphical view]

PRINTS

PR00027. PAIREDBOX.

SMART

SM00389. HOX. 1 hit.
SM00351. PAX. 1 hit.
[Graphical view]

SUPFAM

SSF46689. Homeodomain_like. 2 hits.

PROSITE

PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS00034. PAIRED_1. 1 hit.
PS51057. PAIRED_2. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

NextBio

19572.

SOURCE

Search...

Entry information

Entry name

PAX3_HUMAN

Accession

Primary (citable) accession number: P23760
Secondary accession number(s): Q16448 , Q53T90, Q6GSJ9, Q86UQ2, Q86UQ3

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1991
Last sequence update:	November 1, 1995
Last modified:	January 25, 2012
This is version 140 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.