PAX3

Functionⁱ

Transcription factor that may regulate cell proliferation, migration and apoptosis. Involved in neural development and myogenesis. Transcriptional activator of MITF, acting synergistically with SOX10 (PubMed:21965087).2 Publications

Regions

Feature key	Position(s)	DescriptionActions	Graphical view	Length
DNA bindingⁱ	34 – 161	PairedPROSITE-ProRule annotationAdd BLAST		128
DNA bindingⁱ	219 – 278	HomeoboxPROSITE-ProRule annotationAdd BLAST		60

GO - Molecular functionⁱ

DNA-binding transcription factor activity
Source: ProtInc
Traceable author statementⁱ
- "Epistatic relationship between Waardenburg syndrome genes MITF and PAX3."
  Watanabe A., Takeda K., Ploplis B., Tachibana M.
  Nat. Genet. 18:283-286(1998) [PubMed] [Europe PMC] [Abstract]
DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
HMG box domain binding Source: Ensembl
sequence-specific DNA binding
Source: MGI
Inferred from direct assayⁱ
- "Identification of target genes regulated by PAX3 and PAX3-FKHR in embryogenesis and alveolar rhabdomyosarcoma."
  Barber T.D., Barber M.C., Tomescu O., Barr F.G., Ruben S., Friedman T.B.
  Genomics 79:278-284(2002) [PubMed] [Europe PMC] [Abstract]

Complete GO annotation on QuickGO ...

GO - Biological processⁱ

Complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Developmental protein, DNA-binding
Biological process	Myogenesis, Neurogenesis, Transcription, Transcription regulation

Enzyme and pathway databases

Reactomeⁱ	R-HSA-3214847 HATs acetylate histones
SignaLinkⁱ	P23760
SIGNORⁱ	P23760

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Paired box protein Pax-3 Alternative name(s): HuP2
Gene namesⁱ	Name:PAX3 Synonyms:HUP2
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 2

Organism-specific databases

Human Gene Nomenclature Database More...HGNCⁱ	HGNC:8617 PAX3
MIMⁱ	606597 gene
neXtProtⁱ	NX_P23760

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Nucleus

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Waardenburg syndrome 1 (WS1)20 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionWS1 is an autosomal dominant disorder characterized by non-progressive sensorineural deafness, pigmentary disturbances such as frontal white blaze of hair, heterochromia of irides, white eyelashes, leukoderma, and wide bridge of nose owing to lateral displacement of the inner canthus of each eye (dystopia canthorum). WS1 shows variable clinical expression and some affected individuals do not manifest hearing impairment or iris pigmentation disturbances. Dystopia canthorum is the most consistent sign and is found in 98% of the patients.

Related information in OMIM

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_003790	45	F → L in WS1. 1 Publication	1
Natural variantⁱVAR_017533	48	G → R in WS1. 1 PublicationCorresponds to variant dbSNP:rs1419548558EnsemblClinVar.	1
Natural variantⁱVAR_003793	50	P → L in WS1; important hearing loss. 1 PublicationCorresponds to variant dbSNP:rs104893650EnsemblClinVar.	1
Natural variantⁱVAR_003794	56	R → L in WS1; associated with meningomyelocele. 1 PublicationCorresponds to variant dbSNP:rs267606931EnsemblClinVar.	1
Natural variantⁱVAR_003795	59	I → F in WS1. 1 Publication	1
Natural variantⁱVAR_003796	59	I → N in WS1. 1 Publication	1
Natural variantⁱVAR_003797	60	V → M in WS1. 2 Publications	1
Natural variantⁱVAR_003798	62	M → V in WS1. 2 Publications	1
Natural variantⁱVAR_003799	63 – 67	Missing in WS1. 1 Publication	5
Natural variantⁱVAR_013640	73	S → L in WS1. 1 PublicationCorresponds to variant dbSNP:rs1553593928EnsemblClinVar.	1
Natural variantⁱVAR_017534	78	V → M in WS1. 1 Publication	1
Natural variantⁱVAR_079619	80	H → D in WS1; results in decreased transcriptional activation of MITF; no effect on localization to nucleus; no effect on interaction with SOX10. 2 PublicationsCorresponds to variant dbSNP:rs387906947EnsemblClinVar.	1
Natural variantⁱVAR_003800	81	G → A in WS1; originally classified as Waardenburg syndrome type 2. 2 PublicationsCorresponds to variant dbSNP:rs587776586EnsemblClinVar.	1
Natural variantⁱVAR_003802	85	K → E in WS1. 1 Publication	1
Natural variantⁱVAR_003803	99	G → D in WS1. 2 PublicationsCorresponds to variant dbSNP:rs1189463428Ensembl.	1
Natural variantⁱVAR_079620	223 – 479	Missing in WS1. 2 PublicationsAdd BLAST	257
Natural variantⁱVAR_079621	234	L → P in WS1. 2 Publications	1
Natural variantⁱVAR_003804	238	F → S in WS1. 1 Publication	1
Natural variantⁱVAR_003805	265	V → F in WS1. 1 Publication	1
Natural variantⁱVAR_017536	266	W → C in WS1. 1 Publication	1
Natural variantⁱVAR_013619	270	R → C in WS1 and WS3. 3 PublicationsCorresponds to variant dbSNP:rs1228590199EnsemblClinVar.	1
Natural variantⁱVAR_017537	271	R → C in WS1. 1 PublicationCorresponds to variant dbSNP:rs1380858784EnsemblClinVar.	1
Natural variantⁱVAR_003806	271	R → G in WS1. 1 Publication	1
Natural variantⁱVAR_017538	271	R → H in WS1; associated with K-273 in one family. 3 PublicationsCorresponds to variant dbSNP:rs774528745EnsemblClinVar.	1
Natural variantⁱVAR_017539	273	R → K in WS1; associated with H-271 in one family; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1020175890EnsemblClinVar.	1
Natural variantⁱVAR_013641	391	Q → H in WS1. 1 Publication	1

Waardenburg syndrome 3 (WS3)4 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionWS3 is an autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, dystopia canthorum and limb anomalies such as hypoplasia of the musculoskeletal system, flexion contractures, fusion of the carpal bones, syndactylies.

Related information in OMIM

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_003791	47	N → H in WS3. 1 PublicationCorresponds to variant dbSNP:rs104893653EnsemblClinVar.	1
Natural variantⁱVAR_003801	84	S → F in WS3. 1 PublicationCorresponds to variant dbSNP:rs104893651EnsemblClinVar.	1
Natural variantⁱVAR_017535	90	Y → H in WS3. 1 PublicationCorresponds to variant dbSNP:rs104893654EnsemblClinVar.	1
Natural variantⁱVAR_013619	270	R → C in WS1 and WS3. 3 PublicationsCorresponds to variant dbSNP:rs1228590199EnsemblClinVar.	1

Craniofacial-deafness-hand syndrome (CDHS)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionThought to be an autosomal dominant disease which comprises absence or hypoplasia of the nasal bones, hypoplastic maxilla, small and short nose with thin nares, limited movement of the wrist, short palpebral fissures, ulnar deviation of the fingers, hypertelorism and profound sensory-neural deafness.

Related information in OMIM

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_003792	47	N → K in CDHS. 1 PublicationCorresponds to variant dbSNP:rs104893652EnsemblClinVar.		1

Rhabdomyosarcoma 2 (RMS2)1 Publication

The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving PAX3 is found in rhabdomyosarcoma. Translocation (2;13)(q35;q14) with FOXO1. The resulting protein is a transcriptional activator.1 Publication

Disease descriptionA form of rhabdomyosarcoma, a highly malignant tumor of striated muscle derived from primitive mesenchymal cells and exhibiting differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one of the most frequently occurring soft tissue sarcomas and the most common in children. It occurs in four forms: alveolar, pleomorphic, embryonal and botryoidal rhabdomyosarcomas.

Related information in OMIM

A chromosomal aberration involving PAX3 is a cause of rhabdomyosarcoma. Translocation t(2;2)(q35;p23) with NCOA1 generates the NCOA1-PAX3 oncogene consisting of the N-terminus part of PAX3 and the C-terminus part of NCOA1. The fusion protein acts as a transcriptional activator. Rhabdomyosarcoma is the most common soft tissue carcinoma in childhood, representing 5-8% of all malignancies in children.1 Publication

Sites

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Siteⁱ	319 – 320	Breakpoint for translocation to form PAX3-NCOA1 oncogene		2

Keywords - Diseaseⁱ

Deafness, Disease mutation, Proto-oncogene, Waardenburg syndrome

Organism-specific databases

DisGeNET More...DisGeNETⁱ	5077
GeneReviewsⁱ	PAX3
MalaCards human disease database More...MalaCardsⁱ	PAX3
MIMⁱ	122880 phenotype 148820 phenotype 193500 phenotype 268220 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000135903
Orphanetⁱ	99756 Alveolar rhabdomyosarcoma 1529 Craniofacial-deafness-hand syndrome 894 Waardenburg syndrome type 1 896 Waardenburg syndrome type 3
PharmGKBⁱ	PA32957

Miscellaneous databases

Pharosⁱ	P23760 Tbio

Pharosⁱ

P23760 Tbio

Polymorphism and mutation databases

BioMutaⁱ	PAX3
DMDMⁱ	1172022

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000050178	1 – 479	Paired box protein Pax-3Add BLAST		479

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Modified residueⁱ	201	Phosphoserine1 Publication	1
Modified residueⁱ	205	Phosphoserine1 Publication	1
Modified residueⁱ	209	Phosphoserine1 Publication	1

Keywords - PTMⁱ

Phosphoprotein

Proteomic databases

jPOSTⁱ	P23760
MassIVEⁱ	P23760
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	P23760
PaxDbⁱ	P23760
PeptideAtlas More...PeptideAtlasⁱ	P23760
PRIDEⁱ	P23760
ProteomicsDBⁱ	33896 54150 [P23760-1] 54151 [P23760-2] 54152 [P23760-3] 54153 [P23760-4] 54154 [P23760-5] 54155 [P23760-6] 54156 [P23760-7]

PTM databases

iPTMnetⁱ	P23760
PhosphoSitePlusⁱ	P23760

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000135903 Expressed in nasal cavity mucosa and 65 other tissues
ExpressionAtlasⁱ	P23760 baseline and differential
Genevisibleⁱ	P23760 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	ENSG00000135903 Tissue enhanced (brain, retina)

HPAⁱ

ENSG00000135903 Tissue enhanced (brain, retina)

Interactionⁱ

Subunit structureⁱ

Can bind to DNA as a homodimer or a heterodimer with PAX7.

Interacts with PAXBP1; the interaction links PAX3 to a WDR5-containing histone methyltransferase complex.

Interacts with DAXX.

Interacts with TBX18.

Interacts with SOX10 (PubMed:21965087).

By similarity3 Publications

Binary interactionsⁱ

With	#Exp.	IntAct
IPO13 [O94829]	3	EBI-12105196,EBI-747310
KRTAP6-2 [Q3LI66]	3	EBI-12105196,EBI-11962084
KRTAP8-1 [Q8IUC2]	3	EBI-12105196,EBI-10261141

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

Show more details

GO - Molecular functionⁱ

HMG box domain binding Source: Ensembl

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	111111, 22 interactors
CORUMⁱ	P23760
IntActⁱ	P23760, 14 interactors
Molecular INTeraction database More...MINTⁱ	P23760
STRINGⁱ	9606.ENSP00000375921

Miscellaneous databases

RNActⁱ	P23760 protein

RNActⁱ

P23760 protein

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Helixⁱ	228 – 240	Combined sources	13
Helixⁱ	246 – 256	Combined sources	11
Helixⁱ	260 – 276	Combined sources	17

Show more details

3D structure databases

SMRⁱ	P23760
ModBaseⁱ	Search...
PDBe-KBⁱ	Search...

Miscellaneous databases

EvolutionaryTraceⁱ	P23760

EvolutionaryTraceⁱ

P23760

Family & Domainsⁱ

Region

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Regionⁱ	37 – 93	PAI subdomainPROSITE-ProRule annotationAdd BLAST		57
Regionⁱ	113 – 161	RED subdomainPROSITE-ProRule annotationAdd BLAST		49

Sequence similaritiesⁱ

Belongs to the paired homeobox family.Curated

Keywords - Domainⁱ

Homeobox, Paired box

Phylogenomic databases

eggNOGⁱ	KOG0849 Eukaryota ENOG410XS01 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00940000156504
HOGENOMⁱ	CLU_019281_8_0_1
InParanoidⁱ	P23760
KEGG Orthology (KO) More...KOⁱ	K09381
OMAⁱ	XSAPQSD
Database of Orthologous Groups More...OrthoDBⁱ	1126858at2759
PhylomeDBⁱ	P23760
TreeFamⁱ	TF351610

Family and domain databases

Conserved Domains Database More...CDDⁱ	cd00086 homeodomain, 1 hit cd00131 PAX, 1 hit
Gene3Dⁱ	1.10.10.10, 2 hits
InterProⁱ	View protein in InterPro IPR009057 Homeobox-like_sf IPR017970 Homeobox_CS IPR001356 Homeobox_dom IPR001523 Paired_dom IPR022106 Pax7_C IPR036388 WH-like_DNA-bd_sf
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00046 Homeodomain, 1 hit PF00292 PAX, 1 hit PF12360 Pax7, 1 hit
PRINTSⁱ	PR00027 PAIREDBOX
SMARTⁱ	View protein in SMART SM00389 HOX, 1 hit SM00351 PAX, 1 hit
SUPFAMⁱ	SSF46689 SSF46689, 2 hits
PROSITEⁱ	View protein in PROSITE PS00027 HOMEOBOX_1, 1 hit PS50071 HOMEOBOX_2, 1 hit PS00034 PAIRED_1, 1 hit PS51057 PAIRED_2, 1 hit

Sequences (8)ⁱ

Sequence statusⁱ: Complete.

This entry describes 8 isoformsⁱ produced by alternative splicing. Align Add to basket

Isoform Pax3 (identifier: P23760-1) [UniParc]FASTA Add to basket

Also known as: Pax3C

This isoform has been chosen as the canonicalⁱ 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]FASTA Add to basket

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

« 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 ILSERGKRWR 
       210 
LGRRTCWVTW RASAS

Show »

Length:215

Mass (Da):24,136

Checksum:ⁱ3D91C2A5ED028A3A

GO

Isoform Pax3B (identifier: P23760-3) [UniParc]FASTA Add to basket

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

« 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 ILSERGKALV 

SGVSSH

Show »

Length:206

Mass (Da):22,743

Checksum:ⁱ01F6B51388572EE5

GO

Isoform Pax3G (identifier: P23760-4) [UniParc]FASTA Add to basket

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

« 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 QVPFIISSQI 

SRK

Show »

Length:403

Mass (Da):44,822

Checksum:ⁱ60AF2F51DA96982B

GO

Isoform Pax3H (identifier: P23760-5) [UniParc]FASTA Add to basket

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

« 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 QVPFIISSQI 

SLGFKSF

Show »

Length:407

Mass (Da):45,217

Checksum:ⁱC8F3DD809BFC0F51

GO

Isoform 6 (identifier: P23760-6) [UniParc]FASTA Add to basket

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

« 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
IGGSKPKVTT PDVEKKIEEY KRENPGMFSW EIRDKLLKDA VCDRNTVPSV 
       160        170        180        190        200
SSISRILRSK FGKGEEEEAD LERKEAEESE KKAKHSIDGI LSERASAPQS 
       210        220        230        240        250
DEGSDIDSEP DLPLKRKQRR SRTTFTAEQL EELERAFERT HYPDIYTREE 
       260        270        280        290        300
LAQRAKLTEA RVQVWFSNRR ARWRKQAGAN QLMAFNHLIP GGFPPTAMPT 
       310        320        330        340        350
LPTYQLSETS YQPTSIPQAV SDPSSTVHRP QPLPPSTVHQ STIPSNPDSS 
       360        370        380        390        400
SAYCLPSTRH GFSSYTDSFV PPSGPSNPMN PTIGNGLSPQ VMGLLTNHGG 
       410        420        430        440        450
VPHQPQTDYA LSPLTGGLEP TTTVSASCSQ RLDHMKSLDS LPTSQSYCPP 
       460        470        480 
TYSTTGYSMD PVTGYQYGQY GQSAFHYLKP DIA

Show »

Length:483

Mass (Da):53,336

Checksum:ⁱ31DAA0369ECC4610

GO

Isoform 7 (identifier: P23760-7) [UniParc]FASTA Add to basket

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

« 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        480 
PTYSTTGYSM DPVTGYQYGQ YGQSAFHYLK PDIA

Show »

Length:484

Mass (Da):53,464

Checksum:ⁱFA56CD0432F41644

GO

Isoform Pax3E (identifier: P23760-8) [UniParc]FASTA Add to basket

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

« 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        480        490        500
PTYSTTGYSM DPVTGYQYGQ YGQSAFHYLK PDIAWFQILL NTFDKSSGEE 

EDLEQ

Show »

Length:505

Mass (Da):55,975

Checksum:ⁱE06973C26D9803C3

GO

Experimental Info

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Sequence conflictⁱ	358	S → R in AAP13872 (PubMed:14639621).Curated		1
Sequence conflictⁱ	358	S → R in AAP13873 (PubMed:14639621).Curated		1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_003790	45	F → L in WS1. 1 Publication	1
Natural variantⁱVAR_003791	47	N → H in WS3. 1 PublicationCorresponds to variant dbSNP:rs104893653EnsemblClinVar.	1
Natural variantⁱVAR_003792	47	N → K in CDHS. 1 PublicationCorresponds to variant dbSNP:rs104893652EnsemblClinVar.	1
Natural variantⁱVAR_017533	48	G → R in WS1. 1 PublicationCorresponds to variant dbSNP:rs1419548558EnsemblClinVar.	1
Natural variantⁱVAR_003793	50	P → L in WS1; important hearing loss. 1 PublicationCorresponds to variant dbSNP:rs104893650EnsemblClinVar.	1
Natural variantⁱVAR_003794	56	R → L in WS1; associated with meningomyelocele. 1 PublicationCorresponds to variant dbSNP:rs267606931EnsemblClinVar.	1
Natural variantⁱVAR_003795	59	I → F in WS1. 1 Publication	1
Natural variantⁱVAR_003796	59	I → N in WS1. 1 Publication	1
Natural variantⁱVAR_003797	60	V → M in WS1. 2 Publications	1
Natural variantⁱVAR_003798	62	M → V in WS1. 2 Publications	1
Natural variantⁱVAR_003799	63 – 67	Missing in WS1. 1 Publication	5
Natural variantⁱVAR_013640	73	S → L in WS1. 1 PublicationCorresponds to variant dbSNP:rs1553593928EnsemblClinVar.	1
Natural variantⁱVAR_017534	78	V → M in WS1. 1 Publication	1
Natural variantⁱVAR_079619	80	H → D in WS1; results in decreased transcriptional activation of MITF; no effect on localization to nucleus; no effect on interaction with SOX10. 2 PublicationsCorresponds to variant dbSNP:rs387906947EnsemblClinVar.	1
Natural variantⁱVAR_003800	81	G → A in WS1; originally classified as Waardenburg syndrome type 2. 2 PublicationsCorresponds to variant dbSNP:rs587776586EnsemblClinVar.	1
Natural variantⁱVAR_003801	84	S → F in WS3. 1 PublicationCorresponds to variant dbSNP:rs104893651EnsemblClinVar.	1
Natural variantⁱVAR_003802	85	K → E in WS1. 1 Publication	1
Natural variantⁱVAR_017535	90	Y → H in WS3. 1 PublicationCorresponds to variant dbSNP:rs104893654EnsemblClinVar.	1
Natural variantⁱVAR_003803	99	G → D in WS1. 2 PublicationsCorresponds to variant dbSNP:rs1189463428Ensembl.	1
Natural variantⁱVAR_079620	223 – 479	Missing in WS1. 2 PublicationsAdd BLAST	257
Natural variantⁱVAR_079621	234	L → P in WS1. 2 Publications	1
Natural variantⁱVAR_003804	238	F → S in WS1. 1 Publication	1
Natural variantⁱVAR_003805	265	V → F in WS1. 1 Publication	1
Natural variantⁱVAR_017536	266	W → C in WS1. 1 Publication	1
Natural variantⁱVAR_013619	270	R → C in WS1 and WS3. 3 PublicationsCorresponds to variant dbSNP:rs1228590199EnsemblClinVar.	1
Natural variantⁱVAR_017537	271	R → C in WS1. 1 PublicationCorresponds to variant dbSNP:rs1380858784EnsemblClinVar.	1
Natural variantⁱVAR_003806	271	R → G in WS1. 1 Publication	1
Natural variantⁱVAR_017538	271	R → H in WS1; associated with K-273 in one family. 3 PublicationsCorresponds to variant dbSNP:rs774528745EnsemblClinVar.	1
Natural variantⁱVAR_017539	273	R → K in WS1; associated with H-271 in one family; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1020175890EnsemblClinVar.	1
Natural variantⁱVAR_003807	315	T → K4 PublicationsCorresponds to variant dbSNP:rs2234675EnsemblClinVar.	1
Natural variantⁱVAR_013641	391	Q → H in WS1. 1 Publication	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Length
Alternative sequenceⁱVSP_043634	108	Missing in isoform 6. 1 Publication	1
Alternative sequenceⁱVSP_002355	196 – 215	ASAPQ…PDLPL → GKRWRLGRRTCWVTWRASAS in isoform Pax3A. 1 PublicationAdd BLAST	20
Alternative sequenceⁱVSP_002357	196 – 206	ASAPQSDEGSD → GKALVSGVSSH in isoform Pax3B. 2 PublicationsAdd BLAST	11
Alternative sequenceⁱVSP_002358	207 – 479	Missing in isoform Pax3B. 2 PublicationsAdd BLAST	273
Alternative sequenceⁱVSP_002356	216 – 479	Missing in isoform Pax3A. 1 PublicationAdd BLAST	264
Alternative sequenceⁱVSP_042004	393 – 479	MGLLT…KPWTF → PFIISSQISRK in isoform Pax3G. 1 PublicationAdd BLAST	87
Alternative sequenceⁱVSP_042005	393 – 479	MGLLT…KPWTF → PFIISSQISLGFKSF in isoform Pax3H. 1 PublicationAdd BLAST	87
Alternative sequenceⁱVSP_043635	475 – 479	KPWTF → AFHYLKPDIA in isoform 6 and isoform 7. 2 Publications	5
Alternative sequenceⁱVSP_044915	475 – 479	KPWTF → AFHYLKPDIAWFQILLNTFD KSSGEEEDLEQ in isoform Pax3E. Curated	5

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AY251279 mRNA Translation: AAP13872.1 AY251280 mRNA Translation: AAP13873.1 AK291278 mRNA Translation: BAF83967.1 AC010980 Genomic DNA Translation: AAY14900.1 AC012591 Genomic DNA No translation available. CH471063 Genomic DNA Translation: EAW70789.1 CH471063 Genomic DNA Translation: EAW70791.1 CH471063 Genomic DNA Translation: EAW70794.1 CH471063 Genomic DNA Translation: EAW70796.1 BC063547 mRNA Translation: AAH63547.1 BC101299 mRNA Translation: AAI01300.1 BC101300 mRNA Translation: AAI01301.1 BC101301 mRNA Translation: AAI01302.1 BC101302 mRNA Translation: AAI01303.1 BC114363 mRNA Translation: AAI14364.1 U12263 Genomic DNA Translation: AAA80573.1 U12259 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
The Consensus CDS (CCDS) project More...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
NCBI Reference Sequences More...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]

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
UCSC genome browser More...UCSCⁱ	uc002vmt.3 human [P23760-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Chromosomal rearrangement, Polymorphism

Protein	Similar proteins		Species	Score	Length	Source
P23760	Paired box 3		PANTR		486	UniRef100_P23760
Paired box 3		CERAT		486
Paired box 3		PANPA		486
Paired box 3		MANLE		486
Paired box 3		NOMLE		486
+6
P23760-3	PAX3 isoform 6		PANTR		206	UniRef100_P23760-3
Paired box 3		PANPA		206
Paired box 3		GORGO		206
P23760-5	PAX3 isoform 2		PANTR		407	UniRef100_P23760-5
P23760-6	PAX3 isoform 6		PONAB		483	UniRef100_A0A2J8TUT7
PAX3 isoform 5		PANTR		483
P23760-7	Isoform Pax3E of Paired box protein Pax-3		HUMAN		505	UniRef100_P23760-8
PAX3 isoform 1		PONAB		505
PAX3 isoform 4		PANTR		505
Paired box 3		MACMU		484
Paired box 3		CERAT		484
+10

Protein	Similar proteins		Species	Score	Length	Source
P23760	Paired box protein Pax-3		MOUSE		479	UniRef90_P23760
Paired box protein Pax-3		XENTR		461
Paired box 3		PANTR		486
Paired box 3		CERAT		486
Paired box 3		PANPA		486
+207
P23760-2	PAX3 isoform 9		PONAB		215	UniRef90_P23760-2
Paired box 3		SAIBB		215
PAX3 isoform 8		PANTR		215
Paired box 3		HORSE		214
Paired box 3		MACNE		214
+25
P23760-4	paired box protein Pax-3 isoform X3		TARSY		403	UniRef90_P23760-4
Paired box 3		RABIT		403
paired box protein Pax-3 isoform X5		LEPWE		403
Paired box 3		BOBOX		403
paired box protein Pax-3 isoform X4		DIPOR		403
+4
P23760-5	PAX3 isoform 2		PANTR		407	UniRef90_P23760-5
Paired box protein Pax-3		MYODS		506
PAX3 isoform 4		PONAB		407
paired box protein Pax-3 isoform X3		DIPOR		407
Paired box 3		FELCA		407
+9
P23760-6	paired box protein Pax-3 isoform X3		Florida manatee		483	UniRef90_A0A2Y9DLD8
paired box protein Pax-3 isoform X3		BALAS		483
PAX3 isoform 6		PONAB		483
PAX3 isoform 5		PANTR		483
paired box protein Pax-3 isoform X2		PHYMC		483
+48

Protein	Similar proteins		Species	Score	Length	Source
P23760	Paired box protein Pax-3		MOUSE		479	UniRef50_P23760
Paired box protein Pax-3		XENTR		461
Paired box 3		PANTR		486
Paired box 3		CERAT		486
Paired box 3		PANPA		486
+475
P23760-2	Paired box 3		SAIBB		215	UniRef50_P23760-2
PAX3 isoform 8		PANTR		215
PAX3 isoform 9		PONAB		215
Paired box 3		MACNE		214
Paired box 3		HORSE		214
+95
P23760-4	Isoform Pax3H of Paired box protein Pax-3		HUMAN		407	UniRef50_P23760-5
PAX3 isoform 2		PANTR		407
Paired box protein Pax-3		MYODS		506
paired box protein Pax-3 isoform X3		DIPOR		407
PAX3 isoform 4		PONAB		407
+312

Cross-referencesⁱ

Web resourcesⁱ

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AY251279 mRNA Translation: AAP13872.1 AY251280 mRNA Translation: AAP13873.1 AK291278 mRNA Translation: BAF83967.1 AC010980 Genomic DNA Translation: AAY14900.1 AC012591 Genomic DNA No translation available. CH471063 Genomic DNA Translation: EAW70789.1 CH471063 Genomic DNA Translation: EAW70791.1 CH471063 Genomic DNA Translation: EAW70794.1 CH471063 Genomic DNA Translation: EAW70796.1 BC063547 mRNA Translation: AAH63547.1 BC101299 mRNA Translation: AAI01300.1 BC101300 mRNA Translation: AAI01301.1 BC101301 mRNA Translation: AAI01302.1 BC101302 mRNA Translation: AAI01303.1 BC114363 mRNA Translation: AAI14364.1 U12263 Genomic DNA Translation: AAA80573.1 U12259 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]

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	3CMY	X-ray	1.95	A	219-278	[»]
SMRⁱ	P23760
ModBaseⁱ	Search...
PDBe-KBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	111111, 22 interactors
CORUMⁱ	P23760
IntActⁱ	P23760, 14 interactors
MINTⁱ	P23760
STRINGⁱ	9606.ENSP00000375921

PTM databases

iPTMnetⁱ	P23760
PhosphoSitePlusⁱ	P23760

Polymorphism and mutation databases

BioMutaⁱ	PAX3
DMDMⁱ	1172022

Proteomic databases

jPOSTⁱ	P23760
MassIVEⁱ	P23760
MaxQBⁱ	P23760
PaxDbⁱ	P23760
PeptideAtlasⁱ	P23760
PRIDEⁱ	P23760
ProteomicsDBⁱ	33896 54150 [P23760-1] 54151 [P23760-2] 54152 [P23760-3] 54153 [P23760-4] 54154 [P23760-5] 54155 [P23760-6] 54156 [P23760-7]

Protocols and materials databases

Antibodypediaⁱ	4602 511 antibodies
The DNASU plasmid repository More...DNASUⁱ	5077

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.3 human [P23760-1]

Organism-specific databases

CTDⁱ	5077
DisGeNETⁱ	5077
GeneCardsⁱ	PAX3
GeneReviewsⁱ	PAX3
HGNCⁱ	HGNC:8617 PAX3
HPAⁱ	ENSG00000135903 Tissue enhanced (brain, retina)
MalaCardsⁱ	PAX3
MIMⁱ	122880 phenotype 148820 phenotype 193500 phenotype 268220 phenotype 606597 gene
neXtProtⁱ	NX_P23760
OpenTargetsⁱ	ENSG00000135903
Orphanetⁱ	99756 Alveolar rhabdomyosarcoma 1529 Craniofacial-deafness-hand syndrome 894 Waardenburg syndrome type 1 896 Waardenburg syndrome type 3
PharmGKBⁱ	PA32957
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG0849 Eukaryota ENOG410XS01 LUCA
GeneTreeⁱ	ENSGT00940000156504
HOGENOMⁱ	CLU_019281_8_0_1
InParanoidⁱ	P23760
KOⁱ	K09381
OMAⁱ	XSAPQSD
OrthoDBⁱ	1126858at2759
PhylomeDBⁱ	P23760
TreeFamⁱ	TF351610

Enzyme and pathway databases

Reactomeⁱ	R-HSA-3214847 HATs acetylate histones
SignaLinkⁱ	P23760
SIGNORⁱ	P23760

Miscellaneous databases

ChiTaRSⁱ	PAX3 human
EvolutionaryTraceⁱ	P23760
GeneWikiⁱ	PAX3
GenomeRNAiⁱ	5077
Pharosⁱ	P23760 Tbio
Protein Ontology More...PROⁱ	PR:P23760
RNActⁱ	P23760 protein
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000135903 Expressed in nasal cavity mucosa and 65 other tissues
ExpressionAtlasⁱ	P23760 baseline and differential
Genevisibleⁱ	P23760 HS

Family and domain databases

CDDⁱ	cd00086 homeodomain, 1 hit cd00131 PAX, 1 hit
Gene3Dⁱ	1.10.10.10, 2 hits
InterProⁱ	View protein in InterPro IPR009057 Homeobox-like_sf IPR017970 Homeobox_CS IPR001356 Homeobox_dom IPR001523 Paired_dom IPR022106 Pax7_C IPR036388 WH-like_DNA-bd_sf
Pfamⁱ	View protein in Pfam PF00046 Homeodomain, 1 hit PF00292 PAX, 1 hit PF12360 Pax7, 1 hit
PRINTSⁱ	PR00027 PAIREDBOX
SMARTⁱ	View protein in SMART SM00389 HOX, 1 hit SM00351 PAX, 1 hit
SUPFAMⁱ	SSF46689 SSF46689, 2 hits
PROSITEⁱ	View protein in PROSITE PS00027 HOMEOBOX_1, 1 hit PS50071 HOMEOBOX_2, 1 hit PS00034 PAIRED_1, 1 hit PS51057 PAIRED_2, 1 hit
ProtoNetⁱ	Search...
MobiDBⁱ	Search...

Entry informationⁱ

Entry nameⁱ	PAX3_HUMAN
Accessionⁱ	P23760Primary (citable) accession number: P23760 Secondary accession number(s): G5E9C1 Q86UQ3
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	November 1, 1991
	Last sequence update:	November 1, 1995
	Last modified:	April 22, 2020
	This is version 217 of the entry and version 2 of the sequence. See complete history.
Entry statusⁱ	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.

Miscellaneousⁱ

Keywords - Technical termⁱ

3D-structure, Reference proteome

Documents

Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM
SIMILARITY comments
Index of protein domains and families
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
PDB cross-references
Index of Protein Data Bank (PDB) cross-references

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UniProtKB - P23760 (PAX3_HUMAN)

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Paired box protein Pax-3

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Regions

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

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<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

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Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

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Keywords - Diseasei

Organism-specific databases

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Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Isoform Pax3E [P23760-8]

P23760

GO - Molecular functioni

Protein-protein interaction databases

Miscellaneous databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

3D structure databases

Miscellaneous databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

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<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

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Keywords - Coding sequence diversityi

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<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Sequence databases

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Protein-protein interaction databases

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Proteomic databases

Protocols and materials databases

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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Web resourcesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ