PAX3 - Gene info - The Human Protein Atlas

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

Cytoband

q36.1

Chromosome location (bp)

222199888 - 222298996

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000135903 (version 78.38)

Entrez gene

5077

UniProt

P23760 (UniProt - Evidence at protein level)

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PAX3-001

ENSP00000342092
ENST00000344493

P23760
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P23760 [Direct mapping]
Paired box protein Pax-3

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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

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GO:0003677 [DNA binding]
GO:0003700 [sequence-specific DNA binding transcription factor activity]
GO:0005515 [protein binding]
GO:0006355 [regulation of transcription, DNA-templated]
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]

403

44.8

PAX3-002

ENSP00000338767
ENST00000336840

P23760
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P23760 [Direct mapping]
Paired box protein Pax-3

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407

45.2

PAX3-003

ENSP00000258387
ENST00000258387

P23760
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P23760 [Direct mapping]
Paired box protein Pax-3

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206

22.7

PAX3-004

ENSP00000375922
ENST00000392070

P23760
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P23760 [Direct mapping]
Paired box protein Pax-3

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484

53.5

PAX3-005

ENSP00000386817
ENST00000409828

P23760
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P23760 [Direct mapping]
Paired box protein Pax-3

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215

24.1

PAX3-006

ENSP00000343052
ENST00000350526

P23760
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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 {ECO:0000313|EMBL:EAW70795.1}

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479

PAX3-008

ENSP00000375921
ENST00000392069

P23760
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P23760 [Direct mapping]
Paired box protein Pax-3

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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 [sequence-specific DNA binding transcription factor activity]
GO:0003705 [RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
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:0060594 [mammary gland specification]
GO:0071837 [HMG box domain binding]

505

PAX3-009

ENSP00000386750
ENST00000409551

P23760
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P23760 [Direct mapping]
Paired box protein Pax-3

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483

53.3

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