ITCH - Gene info - The Human Protein Atlas

Gene name

ITCH (HGNC Symbol)

Synonyms

AIP4

Description

Itchy E3 ubiquitin protein ligase (HGNC Symbol)

Entrez gene summary

This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein plays a role in multiple cellular processes including erythroid and lymphoid cell differentiation and the regulation of immune responses. Mutations in this gene are a cause of syndromic multisystem autoimmune disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]

Chromosome

Cytoband

q11.22

Chromosome location (bp)

34363235 - 34511393

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000078747 (version 78.38)

Entrez gene

83737

UniProt

Q96J02 (UniProt - Evidence at protein level)

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ITCH-001

ENSP00000363998
ENST00000374864

Q96J02
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Q96J02 [Direct mapping]
E3 ubiquitin-protein ligase Itchy homolog

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SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

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GO:0001558 [regulation of cell growth]
GO:0004842 [ubiquitin-protein transferase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0006511 [ubiquitin-dependent protein catabolic process]
GO:0006915 [apoptotic process]
GO:0006954 [inflammatory response]
GO:0007219 [Notch signaling pathway]
GO:0016020 [membrane]
GO:0016567 [protein ubiquitination]
GO:0016874 [ligase activity]
GO:0032088 [negative regulation of NF-kappaB transcription factor activity]
GO:0032480 [negative regulation of type I interferon production]
GO:0035519 [protein K29-linked ubiquitination]
GO:0035872 [nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway]
GO:0042787 [protein ubiquitination involved in ubiquitin-dependent protein catabolic process]
GO:0043021 [ribonucleoprotein complex binding]
GO:0043066 [negative regulation of apoptotic process]
GO:0045087 [innate immune response]
GO:0045236 [CXCR chemokine receptor binding]
GO:0046329 [negative regulation of JNK cascade]
GO:0046718 [viral entry into host cell]
GO:0050687 [negative regulation of defense response to virus]
GO:0051607 [defense response to virus]
GO:0070062 [extracellular vesicular exosome]
GO:0070423 [nucleotide-binding oligomerization domain containing signaling pathway]
GO:0070534 [protein K63-linked ubiquitination]
GO:0070936 [protein K48-linked ubiquitination]
GO:0090085 [regulation of protein deubiquitination]

862

98.7

ITCH-002

ENSP00000262650
ENST00000262650

Q96J02
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Q96J02 [Direct mapping]
E3 ubiquitin-protein ligase Itchy homolog

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SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

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903

102.8

ITCH-201

ENSP00000445608
ENST00000535650

Q96J02
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Q96J02 [Direct mapping]
E3 ubiquitin-protein ligase Itchy homolog

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MEMSAT-SVM predicted membrane proteins
SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

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752

86.5

ITCH-202

ENSP00000484783
ENST00000610336

Q96J02
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Q96J02 [Direct mapping]
E3 ubiquitin-protein ligase Itchy homolog

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862

98.7

ITCH-203

ENSP00000480499
ENST00000621101

Q96J02
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Q96J02 [Direct mapping]
E3 ubiquitin-protein ligase Itchy homolog

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GO:0000209 [protein polyubiquitination]
GO:0001558 [regulation of cell growth]
GO:0002669 [positive regulation of T cell anergy]
GO:0004842 [ubiquitin-protein transferase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0005938 [cell cortex]
GO:0006511 [ubiquitin-dependent protein catabolic process]
GO:0006915 [apoptotic process]
GO:0006954 [inflammatory response]
GO:0007219 [Notch signaling pathway]
GO:0016020 [membrane]
GO:0016567 [protein ubiquitination]
GO:0016874 [ligase activity]
GO:0031410 [cytoplasmic vesicle]
GO:0032088 [negative regulation of NF-kappaB transcription factor activity]
GO:0032480 [negative regulation of type I interferon production]
GO:0035519 [protein K29-linked ubiquitination]
GO:0035872 [nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway]
GO:0042787 [protein ubiquitination involved in ubiquitin-dependent protein catabolic process]
GO:0043021 [ribonucleoprotein complex binding]
GO:0043066 [negative regulation of apoptotic process]
GO:0045087 [innate immune response]
GO:0045236 [CXCR chemokine receptor binding]
GO:0045732 [positive regulation of protein catabolic process]
GO:0046329 [negative regulation of JNK cascade]
GO:0046642 [negative regulation of alpha-beta T cell proliferation]
GO:0046718 [viral entry into host cell]
GO:0050687 [negative regulation of defense response to virus]
GO:0051607 [defense response to virus]
GO:0070062 [extracellular vesicular exosome]
GO:0070423 [nucleotide-binding oligomerization domain containing signaling pathway]
GO:0070534 [protein K63-linked ubiquitination]
GO:0070936 [protein K48-linked ubiquitination]
GO:0090085 [regulation of protein deubiquitination]

903

102.8

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