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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	55072
Gene name	Ring finger protein 31
Gene symbol	RNF31
Synonyms (NCBI Gene)	HOIPIMD115PaulZIBRA
Chromosome	14
Chromosome location	14q12
Summary	The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. The encoded protein is the E3 ubiquitin-protein ligase compon

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs377035972	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1566615893	A>G	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all (18)

miRTarBase ID	miRNA	Experiments
MIRT1312504	hsa-miR-1200	CLIP-seq
MIRT1312505	hsa-miR-1287	CLIP-seq
MIRT1312506	hsa-miR-1972	CLIP-seq
MIRT1312507	hsa-miR-3126-5p	CLIP-seq
MIRT1312508	hsa-miR-3135b	CLIP-seq
MIRT1312509	hsa-miR-3157-3p	CLIP-seq
MIRT1312510	hsa-miR-3649	CLIP-seq
MIRT1312511	hsa-miR-3907	CLIP-seq
MIRT1312512	hsa-miR-4290	CLIP-seq
MIRT1312513	hsa-miR-4324	CLIP-seq
MIRT1312514	hsa-miR-4326	CLIP-seq
MIRT1312515	hsa-miR-4419a	CLIP-seq
MIRT1312516	hsa-miR-4510	CLIP-seq
MIRT1312517	hsa-miR-4633-3p	CLIP-seq
MIRT1312518	hsa-miR-4690-5p	CLIP-seq
MIRT1312519	hsa-miR-544b	CLIP-seq
MIRT1312520	hsa-miR-874	CLIP-seq
MIRT1312514	hsa-miR-4326	CLIP-seq

Show/Hide all (45)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000209	Process	Protein polyubiquitination	IDA	12629548, 17006537
GO:0000209	Process	Protein polyubiquitination	IEA
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	17006537, 23806334, 27777308
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0005515	Function	Protein binding	IPI	16713569, 17006537, 21455173, 21455180, 21455181, 21811235, 21903422, 21988832, 22158122, 22430200, 22791023, 23032186, 23104095, 23708998, 24141947, 24726323, 24726327, 25416956, 26789245, 26997266, 27458237, 27523608, 27545878, 27559085, 27591049, 27777308, 28514442, 29892012, 299
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0007249	Process	Canonical NF-kappaB signal transduction	IDA	1406630, 34721373
GO:0008270	Function	Zinc ion binding	IEA
GO:0009898	Component	Cytoplasmic side of plasma membrane	IEA
GO:0009898	Component	Cytoplasmic side of plasma membrane	ISS	20614026
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0023035	Process	CD40 signaling pathway	IEA
GO:0023035	Process	CD40 signaling pathway	ISS
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	23453807
GO:0035631	Component	CD40 receptor complex	IEA
GO:0035631	Component	CD40 receptor complex	ISS
GO:0036435	Function	K48-linked polyubiquitin modification-dependent protein binding	IBA
GO:0042742	Process	Defense response to bacterium	IDA	22607974
GO:0042742	Process	Defense response to bacterium	IDA	19136968, 23806334, 28481331
GO:0042802	Function	Identical protein binding	IPI	29892012, 30561431
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IDA	9346484, 27777308
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IDA	19136968, 21455173, 23806334, 28481331
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IEA
GO:0043124	Process	Negative regulation of canonical NF-kappaB signal transduction	IDA	25038658
GO:0043130	Function	Ubiquitin binding	IDA	21455181
GO:0046872	Function	Metal ion binding	IEA
GO:0050852	Process	T cell receptor signaling pathway	IDA	20005846
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IDA	19136968
GO:0060546	Process	Negative regulation of necroptotic process	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	28481331
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0070530	Function	K63-linked polyubiquitin modification-dependent protein binding	IBA
GO:0071797	Component	LUBAC complex	IDA	17006537, 21455173, 21455180, 21455181, 24726323, 27523608, 28481331
GO:0071797	Component	LUBAC complex	IEA
GO:0071797	Component	LUBAC complex	IPI	21455180
GO:0097039	Process	Protein linear polyubiquitination	IBA
GO:0097039	Process	Protein linear polyubiquitination	IDA	21455173, 21455180, 21455181, 23453807, 23806334, 27777308, 28481331
GO:1903955	Process	Positive regulation of protein targeting to mitochondrion	HMP	24270810
GO:1904417	Process	Positive regulation of xenophagy	IDA	28481331
GO:1990450	Function	Linear polyubiquitin binding	IBA

MIM	HGNC	e!Ensembl
612487	16031	ENSG00000092098

Q96EP0

Protein name

E3 ubiquitin-protein ligase RNF31 (EC 2.3.2.31) (HOIL-1-interacting protein) (HOIP) (RING finger protein 31) (RING-type E3 ubiquitin transferase RNF31) (Zinc in-between-RING-finger ubiquitin-associated domain protein)

Protein function

E3 ubiquitin-protein ligase component of the LUBAC complex which conjugates linear ('Met-1'-linked) polyubiquitin chains to substrates and plays a key role in NF-kappa-B activation and regulation of inflammation (PubMed:17006537, PubMed:19136968

PDB

2CT7 , 4DBG , 4JUY , 4LJO , 4LJP , 4LJQ , 4OWF , 4OYJ , 4OYK , 4P09 , 4P0A , 4P0B , 5EDV , 5LJN , 5X0W , 6GZY , 6KC5 , 6KC6 , 6SC5 , 6SC6 , 6SC7 , 6SC8 , 6SC9 , 7TV4 , 7UY2 , 7UYJ , 7UYK , 7V8F , 7V8G , 8Z30 , 8Z36 , 9AZJ , 9B0B , 9B0Z , 9B12

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF18486	PUB_1	1 → 65	PNGase/UBA- or UBX-containing domain	Domain
PF09409	PUB	69 → 150	PUB domain	Domain
PF16678	HOIP-UBA	483 → 628	HOIP UBA domain pair	Family
PF01485	IBR	779 → 841	IBR domain, a half RING-finger domain	Domain
PF18091	E3_UbLigase_RBR	940 → 1032	E3 Ubiquitin Ligase RBR C-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in both normal and transformed breast epithelial cell lines. {ECO:0000269|PubMed:15093743}.

Sequence

MPGEEEERAFLVAREELASALRRDSGQAFSLEQLRPLLASSLPLAARYLQLDAARLVRCN
AHGEPRNYLNTLSTALNILEKYGRNLLSPQRPRYWRGVKFNNPVFRSTVDAVQGGRDVLR
LYGYTEEQPDGLSFPEGQEEPDEHQVATVTLEVLLLRTELSLLLQNTHPRQQALEQLLED
KVEDDMLQLSEFDPLLREIAPGPLTTPSVPGSTPGPCFLCGSAPGTLHCPSCKQALCPAC
DHLFHGHPSRAHHLRQTLPGVLQGTHLSPSLPASAQPRPQSTSLLALGDSSLSSPNPASA
HLPWHCAACAMLNEPWAVLCVACDRPRGCKGLGLGTEGPQGTGGLEPDLARGRWACQSCT
FENEAAAVLCSICERPRLAQPPSLVVDSRDAGICLQPLQQGDALLASAQSQVWYCIHCTF
CNSSPGWVCVMCNRTSSPIPAQHAPRPYASSLEKGPPKPGPPRRLSAPLPSSCGDPEKQR
QDKMREEGLQLVSMIREGEAAGACPEEIFSALQYSGTEVPLQWLRSELPYVLEMVAELAG
QQDPGLGAFSCQEARRAWLDRHGNLDEAVEECVRTRRRKVQELQSLGFGPEEGSLQALFQ
HGGDVSRALTELQRQRLEPFRQRLWDSGPEPTPSWDGPDKQSLVRRLLAVYALPSWGRAE
LALSLLQETPRNYELGDVVEAVRHSQDRAFLRRLLAQECAVCGWALPHNRMQALTSCECT
ICPDCFRQHFTIALKEKHITDMVCPACGRPDLTDDTQLLSYFSTLDIQLRESLEPDAYAL
FHKKLTEGVLMRDPKFLWCAQCSFGFIYEREQLEATCPQCHQTFCVRCKRQWEEQHRGRS
CEDFQNWKRMNDPEYQAQGLAMYLQENGIDCPKCKFSYALARGGCMHFHCTQCRHQFCSG
CYNAFYAKNKCPEPNCRVKKSLHGHHPRDCLFYLRDWTALRLQKLLQDNNVMFNTEPPAG
ARAVPGGGCRVIEQKEVPNGLRDEACGKETPAGYAGLCQAHYKEYLVSLINAHSLDPATL
YEVEELETATERYLHVRPQPLAGEDPPAYQARLLQKLTEEVPLGQSIPRRRK

Sequence length

1072

Interactions

View interactions

	KEGG		Reactome
	Necroptosis NOD-like receptor signaling pathway Shigellosis		Regulation of TNFR1 signaling TNFR1-induced NFkappaB signaling pathway

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Immunodeficiency 115 with autoinflammation	Pathogenic	rs794729666, rs2501999133	RCV004558435 RCV003444175
Short stature	Likely pathogenic	rs1566615893	RCV000736224

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Adrenocortical carcinoma, hereditary	Likely benign	rs781206618	RCV005869867
Familial cancer of breast	Uncertain significance	rs747042037	RCV005922835
Glioma susceptibility 1	Uncertain significance	rs755821957	RCV005934722
Malignant tumor of esophagus	Uncertain significance	rs747042037, rs1358080362	RCV005922836 RCV005936599
Malignant tumor of urinary bladder	Uncertain significance	rs201103203	RCV005934969
Melanoma	Uncertain significance	rs747042037	RCV005922837
Polyglucosan body myopathy type 1	Likely benign	rs142436858	RCV001267790
RNF31-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	rs184184005, rs45466595, rs183022825, rs200344424, rs375638461, rs200953781, rs200256698, rs201959276, rs376896874, rs201453918, rs1360365695, rs985796955, rs376183207, rs377298249, rs76273859, rs187060127 View all (1 more)	RCV003938694 RCV003921157 RCV003948519 RCV003941236 RCV003968682 RCV003960899 RCV003933330 RCV003913807 RCV003926727 RCV003946341 RCV003961078 RCV003943470 RCV003897008 RCV003955506 RCV003926027 RCV003972977
Sarcoma	Uncertain significance	rs201453918	RCV005930665

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Associate	24441041, 26148235, 36581998
Breast Neoplasms	Stimulate	29763465
Carcinoma Hepatocellular	Associate	37117215, 38172174
Familial cylindromatosis	Associate	24461064
Gamma A Globulin Defect in Assembly of	Associate	30936877
Glioma	Stimulate	38002938
Glycogen Storage Disease Type IV	Associate	26008899
Hereditary Autoinflammatory Diseases	Associate	26008899, 32122970
Immunologic Deficiency Syndromes	Associate	26008899, 30936877
Inflammation	Associate	26008899, 38172174
Lymphangiectasis Intestinal	Associate	26008899
Lymphoma Large B Cell Diffuse	Associate	27777308
Melanoma	Associate	34467615
Neoplasms	Associate	24686174, 29763465, 34467615, 36811466, 37117215, 38002938, 38172174
Neoplasms	Inhibit	36581998
Ovarian Neoplasms	Associate	24686174
Stomach Neoplasms	Associate	30389786
Triple Negative Breast Neoplasms	Inhibit	36581998

RNF31 (ring finger protein 31)