Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	11236
Gene name	Ring finger protein 139
Gene symbol	RNF139
Synonyms (NCBI Gene)	HRCA1RCA1TRC8
Chromosome	8
Chromosome location	8q24.13
Summary	The protein encoded by this gene is a multi-membrane spanning protein containing a RING-H2 finger. This protein is located in the endoplasmic reticulum, and has been shown to possess ubiquitin ligase activity. This gene was found to be interrupted by a t(

Show/Hide all (97)

miRTarBase ID	miRNA	Experiments	Reference
MIRT038108	hsa-miR-423-5p	CLASH	23622248
MIRT726730	hsa-miR-27a-3p	HITS-CLIP	22473208
MIRT726729	hsa-miR-27b-3p	HITS-CLIP	22473208
MIRT1310177	hsa-miR-101	CLIP-seq
MIRT1310178	hsa-miR-1276	CLIP-seq
MIRT1310179	hsa-miR-128	CLIP-seq
MIRT1310180	hsa-miR-144	CLIP-seq
MIRT1310181	hsa-miR-191	CLIP-seq
MIRT1310182	hsa-miR-202	CLIP-seq
MIRT1310183	hsa-miR-2113	CLIP-seq
MIRT1310184	hsa-miR-218	CLIP-seq
MIRT1310185	hsa-miR-27a	CLIP-seq
MIRT1310186	hsa-miR-27b	CLIP-seq
MIRT1310187	hsa-miR-323-3p	CLIP-seq
MIRT1310188	hsa-miR-329	CLIP-seq
MIRT1310189	hsa-miR-362-3p	CLIP-seq
MIRT1310190	hsa-miR-3941	CLIP-seq
MIRT1310191	hsa-miR-409-5p	CLIP-seq
MIRT1310192	hsa-miR-410	CLIP-seq
MIRT1310193	hsa-miR-421	CLIP-seq
MIRT1310194	hsa-miR-4272	CLIP-seq
MIRT1310195	hsa-miR-4311	CLIP-seq
MIRT1310196	hsa-miR-452	CLIP-seq
MIRT1310197	hsa-miR-4528	CLIP-seq
MIRT1310198	hsa-miR-466	CLIP-seq
MIRT1310199	hsa-miR-4672	CLIP-seq
MIRT1310200	hsa-miR-4676-3p	CLIP-seq
MIRT1310201	hsa-miR-4699-3p	CLIP-seq
MIRT1310202	hsa-miR-4709-3p	CLIP-seq
MIRT1310203	hsa-miR-493	CLIP-seq
MIRT1310204	hsa-miR-499-3p	CLIP-seq
MIRT1310205	hsa-miR-499a-3p	CLIP-seq
MIRT1310206	hsa-miR-513a-5p	CLIP-seq
MIRT1310207	hsa-miR-548aa	CLIP-seq
MIRT1310208	hsa-miR-553	CLIP-seq
MIRT1310209	hsa-miR-582-5p	CLIP-seq
MIRT1310210	hsa-miR-583	CLIP-seq
MIRT1310211	hsa-miR-603	CLIP-seq
MIRT1310212	hsa-miR-636	CLIP-seq
MIRT1553142	hsa-miR-338-5p	CLIP-seq
MIRT1310177	hsa-miR-101	CLIP-seq
MIRT1310179	hsa-miR-128	CLIP-seq
MIRT1310180	hsa-miR-144	CLIP-seq
MIRT2092072	hsa-miR-186	CLIP-seq
MIRT1310181	hsa-miR-191	CLIP-seq
MIRT1310185	hsa-miR-27a	CLIP-seq
MIRT1310186	hsa-miR-27b	CLIP-seq
MIRT2092073	hsa-miR-3133	CLIP-seq
MIRT1310193	hsa-miR-421	CLIP-seq
MIRT2092074	hsa-miR-4263	CLIP-seq
MIRT1310194	hsa-miR-4272	CLIP-seq
MIRT1310195	hsa-miR-4311	CLIP-seq
MIRT2092075	hsa-miR-4509	CLIP-seq
MIRT1310201	hsa-miR-4699-3p	CLIP-seq
MIRT2092076	hsa-miR-4744	CLIP-seq
MIRT2092077	hsa-miR-4786-5p	CLIP-seq
MIRT2092078	hsa-miR-4799-5p	CLIP-seq
MIRT1310204	hsa-miR-499-3p	CLIP-seq
MIRT1310205	hsa-miR-499a-3p	CLIP-seq
MIRT1310206	hsa-miR-513a-5p	CLIP-seq
MIRT2092079	hsa-miR-548a-3p	CLIP-seq
MIRT1310207	hsa-miR-548aa	CLIP-seq
MIRT2092080	hsa-miR-548ae	CLIP-seq
MIRT2092081	hsa-miR-548aj	CLIP-seq
MIRT2092082	hsa-miR-548am	CLIP-seq
MIRT2092083	hsa-miR-548e	CLIP-seq
MIRT2092084	hsa-miR-548f	CLIP-seq
MIRT2092085	hsa-miR-548x	CLIP-seq
MIRT1310208	hsa-miR-553	CLIP-seq
MIRT2092086	hsa-miR-576-5p	CLIP-seq
MIRT1310209	hsa-miR-582-5p	CLIP-seq
MIRT1310177	hsa-miR-101	CLIP-seq
MIRT1310178	hsa-miR-1276	CLIP-seq
MIRT1310179	hsa-miR-128	CLIP-seq
MIRT2316551	hsa-miR-136	CLIP-seq
MIRT1310180	hsa-miR-144	CLIP-seq
MIRT1310181	hsa-miR-191	CLIP-seq
MIRT1310182	hsa-miR-202	CLIP-seq
MIRT1310185	hsa-miR-27a	CLIP-seq
MIRT1310186	hsa-miR-27b	CLIP-seq
MIRT2316552	hsa-miR-3145-5p	CLIP-seq
MIRT1553142	hsa-miR-338-5p	CLIP-seq
MIRT1310195	hsa-miR-4311	CLIP-seq
MIRT1310201	hsa-miR-4699-3p	CLIP-seq
MIRT2316553	hsa-miR-4719	CLIP-seq
MIRT2316554	hsa-miR-4731-3p	CLIP-seq
MIRT2092077	hsa-miR-4786-5p	CLIP-seq
MIRT2316555	hsa-miR-4801	CLIP-seq
MIRT1310204	hsa-miR-499-3p	CLIP-seq
MIRT1310205	hsa-miR-499a-3p	CLIP-seq
MIRT2316556	hsa-miR-508-5p	CLIP-seq
MIRT1310208	hsa-miR-553	CLIP-seq
MIRT1310209	hsa-miR-582-5p	CLIP-seq
MIRT1310210	hsa-miR-583	CLIP-seq
MIRT2393817	hsa-miR-1265	CLIP-seq
MIRT2393818	hsa-miR-4307	CLIP-seq
MIRT2393819	hsa-miR-4772-5p	CLIP-seq

Show/Hide all (36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002020	Function	Protease binding	IPI	25239945
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	17016439
GO:0004842	Function	Ubiquitin-protein transferase activity	IMP	19720873
GO:0005515	Function	Protein binding	IPI	12032852, 19706601, 19720873, 23223569, 25239945, 32814053
GO:0005783	Component	Endoplasmic reticulum	IDA	12032852
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0008270	Function	Zinc ion binding	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	17016439
GO:0012505	Component	Endomembrane system	IBA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	12032852
GO:0016567	Process	Protein ubiquitination	IDA	10500182, 17016439
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016567	Process	Protein ubiquitination	IMP	19720873
GO:0016740	Function	Transferase activity	IEA
GO:0017148	Process	Negative regulation of translation	IDA	20068067
GO:0019787	Function	Ubiquitin-like protein transferase activity	IDA	17016439
GO:0031648	Process	Protein destabilization	IMP	25239945
GO:0036503	Process	ERAD pathway	IBA
GO:0036503	Process	ERAD pathway	IMP	25239945
GO:0036513	Component	Derlin-1 retrotranslocation complex	IBA
GO:0036513	Component	Derlin-1 retrotranslocation complex	IDA	25239945
GO:0038023	Function	Signaling receptor activity	TAS	9689122
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0044322	Component	Endoplasmic reticulum quality control compartment	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0060628	Process	Regulation of ER to Golgi vesicle-mediated transport	IDA	19706601
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	10500182
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	TAS
GO:0070613	Process	Regulation of protein processing	IDA	19706601
GO:1904380	Process	Endoplasmic reticulum mannose trimming	TAS
GO:2000060	Process	Positive regulation of ubiquitin-dependent protein catabolic process	IMP	25239945

MIM	HGNC	e!Ensembl
603046	17023	ENSG00000170881

Q8WU17

Protein name

E3 ubiquitin-protein ligase RNF139 (EC 2.3.2.27) (RING finger protein 139) (RING-type E3 ubiquitin transferase RNF139) (Translocation in renal carcinoma on chromosome 8 protein)

Protein function

E3-ubiquitin ligase; acts as a negative regulator of cell proliferation through mechanisms involving G2/M arrest and cell death (PubMed:10500182, PubMed:12032852, PubMed:17016439). Required for MHC class I ubiquitination in cells expressing the

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13705	TRC8_N	19 → 516	TRC8 N-terminal domain	Domain
PF13639	zf-RING_2	545 → 586	Ring finger domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in testis, placenta and adrenal gland. Moderate expression in heart, brain, liver, skeletal muscle and pancreas, and low expression in lung and kidney. {ECO:0000269|PubMed:9689122}.

Sequence

MAAVGPPQQQVRMAHQQVWAALEVALRVPCLYIIDAIFNSYPDSSQSRFCIVLQIFLRLF
GVFASSIVLILSQRSLFKFYTYSSAFLLAATSVLVNYYASLHIDFYGAYNTSAFGIELLP
RKGPSLWMALIVLQLTFGIGYVTLLQIHSIYSQLIILDLLVPVIGLITELPLHIRETLLF
TSSLILTLNTVFVLAVKLKWFYYSTRYVYLLVRHMYRIYGLQLLMEDTWKRIRFPDILRV
FWLTRVTAQATVLMYILRMANETDSFFISWDDFWDLICNLIISGCDSTLTVLGMSAVISS
VAHYLGLGILAFIGSTEEDDRRLGFVAPVLFFILALQTGLSGLRPEERLIRLSRNMCLLL
TAVLHFIHGMTDPVLMSLSASHVSSFRRHFPVLFVSACLFILPVLLSYVLWHHYALNTWL
FAVTAFCVELCLKVIVSLTVYTLFMIDGYYNVLWEKLDDYVYYVRSTGSIIEFIFGVVMF
GNGAYTMMFESGSKIRAFMMCLHAYFNIYLQAKNGWKTFMNRRTAVKKINSLPEIKGSRL
QEINDVCAICYHEFTTSARITPCNHYFHALCLRKWLYIQDTCPMCHQKVYIEDDIKDNSN
VSNNNGFIPPNETPEEAVREAAAESDRELNEDDSTDCDDDVQRERNGVIQHTGAAAEEFN
DDTD

Sequence length

664

Interactions

View interactions

	Reactome
			ER Quality Control Compartment (ERQC)

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CARCINOMA, RENAL CELL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (43)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Barrett Esophagus	Barrett esophagus	BEFREE	25228972		★★★★★ ★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	25228972	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36077333	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	19642973	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24346768	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	19642973, 9689122	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	19642973, 9689122		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	17539022, 19642973		★★★★★ ★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	15735686, 17539022		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysgerminoma	Dysgerminoma	BEFREE	19642973, 27686674		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	25228972	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	19642973		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	19642973	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	34106407	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Globoid cell leukodystrophy	Globoid Cell Leukodystrophy	BEFREE	1335383		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemangioblastoma	Hemangioblastoma	BEFREE	31031691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary clear cell renal cell carcinoma	Hereditary Renal Carcinoma	ORPHANET_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary clear cell renal cell carcinoma	Hereditary Renal Carcinoma	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	28662643		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	9689122	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	19706601	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	28662643		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	12032852, 15735686, 17016439, 22689053		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	28662643		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	19642973		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of tongue	Malignant Neoplasm Of Tongue	BEFREE	28662643		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22689053		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	12032852		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	24346768	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	27686674		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17016439, 17539022, 19642973, 22689053, 27686674, 7690964		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	12032852, 15735686, 17016439, 22689053		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	15735686		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcomatoid Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	19642973		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	19642973	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	36451815	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

RNF139 (ring finger protein 139)