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PAX3

GENERAL INFORMATION

Gene name

 PAX3

Gene description

 Paired box 3

Protein class

 Cancer-related genes
Disease related genes
Predicted intracellular proteins
Transcription factors

Predicted localization

 Intracellular

Number of transcripts

 8
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Group enriched (breast, skeletal muscle, skin, testis)
GTEx:Group enriched (breast, cerebellum, salivary gland, skeletal muscle, skin, testis)
FANTOM5:Group enriched (cerebellum, retina)

Protein evidence

 Evidence at protein level

Protein expression

 Nucleolar expression in most tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining not consistent with RNA expression data. Pending external verification.

Reliability score

 Uncertain based on 1 antibody.
HPA063659
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Nasopharynx
N/A
N/A
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Oral mucosa
N/A
N/A
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Skin

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (breast, skeletal muscle, skin, testis)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (breast, cerebellum, salivary gland, skeletal muscle, skin, testis)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (cerebellum, retina)

GENE INFORMATION

Gene name

 PAX3 (HGNC Symbol)

Synonyms

 HUP2, WS1

Description

 Paired box 3 (HGNC Symbol)

Entrez gene summary

 This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. Mutations in paired box gene 3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome, and alveolar rhabdomyosarcoma. The translocation t(2;13)(q35;q14), which represents a fusion between PAX3 and the forkhead gene, is a frequent finding in alveolar rhabdomyosarcoma. Alternative splicing results in transcripts encoding isoforms with different C-termini. [provided by RefSeq, Jul 2008]

Chromosome

 2

Cytoband

 q36.1

Chromosome location (bp)

 222199888 - 222298996

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000135903 (version 83.38)

Entrez gene

 5077

UniProt

 P23760 (UniProt - Evidence at protein level)

neXtProt

 NX_P23760

Antibodypedia

 PAX3 antibodies

PROTEIN BROWSER
PAX3-001
PAX3-002
PAX3-003
PAX3-004
PAX3-005
PAX3-006
PAX3-008
PAX3-009

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
PAX3-001
ENSP00000342092
ENST00000344493
P23760 [Direct mapping]
Paired box protein Pax-3
Show all
Predicted intracellular proteins
Transcription factors
   Helix-turn-helix domains
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Disease related genes
Show all
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005515 [protein binding]
GO:0005654 [nucleoplasm]
GO:0006325 [chromatin organization]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0006915 [apoptotic process]
GO:0007605 [sensory perception of sound]
GO:0009887 [organ morphogenesis]
GO:0043565 [sequence-specific DNA binding]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
Show all
 403 aa
44.8 kDa 		No 0
PAX3-002
ENSP00000338767
ENST00000336840
P23760 [Direct mapping]
Paired box protein Pax-3
Show all
Predicted intracellular proteins
Transcription factors
   Helix-turn-helix domains
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Disease related genes
Show all
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005515 [protein binding]
GO:0005654 [nucleoplasm]
GO:0006325 [chromatin organization]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0006915 [apoptotic process]
GO:0007605 [sensory perception of sound]
GO:0009887 [organ morphogenesis]
GO:0043565 [sequence-specific DNA binding]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
Show all
 407 aa
45.2 kDa 		No 0
PAX3-003
ENSP00000258387
ENST00000258387
P23760 [Direct mapping]
Paired box protein Pax-3
Show all
Predicted intracellular proteins
Transcription factors
   Helix-turn-helix domains
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Disease related genes
Show all
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005515 [protein binding]
GO:0005654 [nucleoplasm]
GO:0006325 [chromatin organization]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0006915 [apoptotic process]
GO:0007605 [sensory perception of sound]
GO:0009887 [organ morphogenesis]
GO:0043565 [sequence-specific DNA binding]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
Show all
 206 aa
22.7 kDa 		No 0
PAX3-004
ENSP00000375922
ENST00000392070
P23760 [Direct mapping]
Paired box protein Pax-3
Show all
Predicted intracellular proteins
Transcription factors
   Helix-turn-helix domains
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Disease related genes
Show all
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005515 [protein binding]
GO:0005654 [nucleoplasm]
GO:0006325 [chromatin organization]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0006915 [apoptotic process]
GO:0007605 [sensory perception of sound]
GO:0009887 [organ morphogenesis]
GO:0043565 [sequence-specific DNA binding]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
Show all
 484 aa
53.5 kDa 		No 0
PAX3-005
ENSP00000386817
ENST00000409828
P23760 [Direct mapping]
Paired box protein Pax-3
Show all
Predicted intracellular proteins
Transcription factors
   Helix-turn-helix domains
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Disease related genes
Show all
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005515 [protein binding]
GO:0005654 [nucleoplasm]
GO:0006325 [chromatin organization]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0006915 [apoptotic process]
GO:0007605 [sensory perception of sound]
GO:0009887 [organ morphogenesis]
GO:0043565 [sequence-specific DNA binding]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
Show all
 215 aa
24.1 kDa 		No 0
PAX3-006
ENSP00000343052
ENST00000350526
P23760 [Direct mapping]
Paired box protein Pax-3
A0A024R470 [Target identity:100%; Query identity:100%]
Paired box gene 3 (Waardenburg syndrome 1), isoform CRA_e
Show all
Predicted intracellular proteins
Transcription factors
   Helix-turn-helix domains
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Disease related genes
Show all
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005515 [protein binding]
GO:0005654 [nucleoplasm]
GO:0006325 [chromatin organization]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0006915 [apoptotic process]
GO:0007605 [sensory perception of sound]
GO:0009887 [organ morphogenesis]
GO:0043565 [sequence-specific DNA binding]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
Show all
 479 aa
53 kDa 		No 0
PAX3-008
ENSP00000375921
ENST00000392069
P23760 [Direct mapping]
Paired box protein Pax-3
Show all
Predicted intracellular proteins
Transcription factors
   Helix-turn-helix domains
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Disease related genes
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0001755 [neural crest cell migration]
GO:0001843 [neural tube closure]
GO:0003677 [DNA binding]
GO:0003682 [chromatin binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0003705 [transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006325 [chromatin organization]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0006915 [apoptotic process]
GO:0007507 [heart development]
GO:0007517 [muscle organ development]
GO:0007605 [sensory perception of sound]
GO:0008283 [cell proliferation]
GO:0008284 [positive regulation of cell proliferation]
GO:0009887 [organ morphogenesis]
GO:0014807 [regulation of somitogenesis]
GO:0016477 [cell migration]
GO:0021527 [spinal cord association neuron differentiation]
GO:0021915 [neural tube development]
GO:0043565 [sequence-specific DNA binding]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0048066 [developmental pigmentation]
GO:0048663 [neuron fate commitment]
GO:0060538 [skeletal muscle organ development]
GO:0060594 [mammary gland specification]
GO:0071837 [HMG box domain binding]
Show all
 505 aa
56 kDa 		No 0
PAX3-009
ENSP00000386750
ENST00000409551
P23760 [Direct mapping]
Paired box protein Pax-3
Show all
Predicted intracellular proteins
Transcription factors
   Helix-turn-helix domains
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Disease related genes
Show all
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005515 [protein binding]
GO:0005654 [nucleoplasm]
GO:0006325 [chromatin organization]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0006915 [apoptotic process]
GO:0007605 [sensory perception of sound]
GO:0009887 [organ morphogenesis]
GO:0043565 [sequence-specific DNA binding]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
Show all
 483 aa
53.3 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.