RNF31 (ring finger protein 31)

Gene

• Entrez ID: 55072
• Gene name: Ring finger protein 31
• Gene symbol: RNF31
• Synonyms: HOIP, IMD115, Paul, ZIBRA
• 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

SNPs

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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000209	Process	Protein polyubiquitination	IDA	12629548, 17006537
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	17006537
GO:0005515	Function	Protein binding	IPI	16713569, 17006537, 21455173, 21455180, 21455181, 21811235, 21903422, 21988832, 22158122, 22430200, 22791023, 23032186, 23104095, 23708998, 24141947, 24726323, 24726327, 26789245, 26997266, 27458237, 27523608, 27545878, 27559085, 27591049, 28514442, 29892012, 29997244, 30561431, 328
GO:0005829	Component	Cytosol	TAS
GO:0007249	Process	I-kappaB kinase/NF-kappaB signaling	TAS
GO:0009898	Component	Cytoplasmic side of plasma membrane	ISS	20614026
GO:0010803	Process	Regulation of tumor necrosis factor-mediated signaling pathway	TAS
GO:0023035	Process	CD40 signaling pathway	ISS
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	23453807
GO:0035631	Component	CD40 receptor complex	ISS
GO:0042802	Function	Identical protein binding	IPI	29892012, 30561431
GO:0043123	Process	Positive regulation of I-kappaB kinase/NF-kappaB signaling	IDA	19136968, 21455173
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:0071797	Component	LUBAC complex	IDA	17006537, 21455173, 21455180, 21455181, 24726323, 27523608
GO:0097039	Process	Protein linear polyubiquitination	IDA	21455173, 21455180, 21455181, 23453807
GO:1903955	Process	Positive regulation of protein targeting to mitochondrion	HMP	24270810

Other IDs

• MIM: 612487
• HGNC: 16031
• e!Ensembl: ENSG00000092098

Protein

• UniProt ID: 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

• Sequence:

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

• Sequence length: 1072

Pathways

KEGG:

Necroptosis
NOD-like receptor signaling pathway
Shigellosis

Reactome:

Regulation of TNFR1 signaling
TNFR1-induced NFkappaB signaling pathway

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	29610475

Unknown
Disease name	Disease term	dbSNP ID	References
Polyglucosan body myopathy with or without immunodeficiency	POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY		26008899
Prostatic neoplasms	Prostatic Neoplasms		29610475