Entity Details

Primary name RN139_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8WU17
EntryNameRN139_HUMAN
FullNameE3 ubiquitin-protein ligase RNF139
TaxID9606
Evidenceevidence at protein level
Length664
SequenceStatuscomplete
DateCreated2005-12-06
DateModified2021-06-02

Ontological Relatives

GenesRNF139

GO terms

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GOName
GO:0002020 protease binding
GO:0004842 ubiquitin-protein transferase activity
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0008270 zinc ion binding
GO:0008285 negative regulation of cell population proliferation
GO:0012505 endomembrane system
GO:0016021 integral component of membrane
GO:0016567 protein ubiquitination
GO:0017148 negative regulation of translation
GO:0019787 ubiquitin-like protein transferase activity
GO:0031648 protein destabilization
GO:0036503 ERAD pathway
GO:0036513 Derlin-1 retrotranslocation complex
GO:0038023 signaling receptor activity
GO:0044322 endoplasmic reticulum quality control compartment
GO:0060628 regulation of ER to Golgi vesicle-mediated transport
GO:0061630 ubiquitin protein ligase activity
GO:0070613 regulation of protein processing
GO:1904380 endoplasmic reticulum mannose trimming
GO:2000060 positive regulation of ubiquitin-dependent protein catabolic process

Subcellular Location

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Subcellular Location
Endoplasmic reticulum membrane

Domains

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DomainNameCategoryType
IPR001841 Zinc finger, RING-typeDomainDomain
IPR011016 Zinc finger, RING-CH-typeDomainDomain
IPR013083 Zinc finger, RING/FYVE/PHD-typeFamilyHomologous superfamily
IPR025754 TRC8 N-terminal domainDomainDomain

Diseases

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Disease IDSourceNameDescription
144700 OMIMRenal cell carcinoma (RCC)Renal cell carcinoma is a heterogeneous group of sporadic or hereditary carcinoma derived from cells of the proximal renal tubular epithelium. It is subclassified into clear cell renal carcinoma (non-papillary carcinoma), papillary renal cell carcinoma, chromophobe renal cell carcinoma, collecting duct carcinoma with medullary carcinoma of the kidney, and unclassified renal cell carcinoma. Clear cell renal cell carcinoma is the most common subtype. The disease may be caused by variants affecting the gene represented in this entry. A chromosomal aberration involving RNF139 has been found in a lymphoblastoid cell line established from a family with renal cell carcinoma and thyroid carcinoma. Translocation (3;8)(q14.2;q24.1) with FHIT. RNF139 is found to be fused to FHIT and disrupted within the sterol-sensing domain. In contrast, the FHIT coding region is maintained and expressed. Sporadic cases of renal carcinoma, where an acquired mutation in RNF139 results in the duplication of 12 nucleotides in the 5'-UTR, has also been identified.