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Aliases for RNF31 Gene

Aliases for RNF31 Gene

  • Ring Finger Protein 31 2 3
  • HOIL-1-Interacting Protein 2 3 4
  • Zinc In-Between-RING-Finger Ubiquitin-Associated Domain Protein 3 4
  • RING Finger Protein 31 4 5
  • ZIBRA 3 4
  • HOIP 3 4
  • E3 Ubiquitin-Protein Ligase RNF31 3
  • EC 6.3.2.- 4

External Ids for RNF31 Gene

Previous GeneCards Identifiers for RNF31 Gene

  • GC14P022606
  • GC14P023687
  • GC14P023688
  • GC14P024616
  • GC14P004731

Summaries for RNF31 Gene

Entrez Gene Summary for RNF31 Gene

  • 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 component of the linear ubiquitin chain assembly complex. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]

GeneCards Summary for RNF31 Gene

RNF31 (Ring Finger Protein 31) is a Protein Coding gene. Diseases associated with RNF31 include Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency and Otulipenia. Among its related pathways are Toll-Like receptor Signaling Pathways and TNF signaling (REACTOME). GO annotations related to this gene include ligase activity and ubiquitin protein ligase binding. An important paralog of this gene is ENSG00000259529.

UniProtKB/Swiss-Prot for RNF31 Gene

  • 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, PubMed:20005846, PubMed:21455173, PubMed:21455180, PubMed:21455181, PubMed:22863777). LUBAC conjugates linear polyubiquitin to IKBKG and RIPK1 and is involved in activation of the canonical NF-kappa-B and the JNK signaling pathways (PubMed:17006537, PubMed:19136968, PubMed:20005846, PubMed:21455173, PubMed:21455180, PubMed:21455181, PubMed:22863777). Linear ubiquitination mediated by the LUBAC complex interferes with TNF-induced cell death and thereby prevents inflammation (PubMed:21455173). LUBAC is proposed to be recruited to the TNF-R1 signaling complex (TNF-RSC) following polyubiquitination of TNF-RSC components by BIRC2 and/or BIRC3 and to conjugate linear polyubiquitin to IKBKG and possibly other components contributing to the stability of the complex (PubMed:20005846). Together with otulin, the LUBAC complex regulates the canonical Wnt signaling during angiogenesis. Binds polyubiquitin of different linkage types (PubMed:23708998).

Gene Wiki entry for RNF31 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RNF31 Gene

Genomics for RNF31 Gene

Regulatory Elements for RNF31 Gene

Enhancers for RNF31 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14F024123 0.2 ENCODE 11.3 -22.8 -22823 1.4 PKNOX1 MTA2 MNT RELA POLR2A TARDBP IKZF1 KLF9 REC8 PSME2 RNF31 MIR7703 PCK2 IPO4 TM9SF1 TSSK4 EMC9 PIR38746
GH14F024113 1.1 ENCODE 11 -31.8 -31843 3.1 HDGF PKNOX1 ARNT CREB3L1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 RNA5SP383 KHNYN HOMEZ LOC102724814 NFATC4 CIDEB EMC9 NOP9 PSME1 PCK2
GH14F024194 0.7 ENCODE 11 +49.2 49194 3.5 HDGF PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 NFATC4 HOMEZ KHNYN RNA5SP383 REC8 NEDD8 NEDD8-MDP1 TINF2 MDP1 MIR7703
GH14F024108 1.2 Ensembl ENCODE 10.8 -37.8 -37825 1.5 PKNOX1 MLX ARID4B DMAP1 ZNF48 ZNF2 YY1 ZNF121 SLC30A9 ELK1 EMC9 CPNE6 CARMIL3 FITM1 PSME1 IRF9 PSME2 MIR7703 RNF31 TM9SF1
GH14F024106 0.2 Ensembl 10.8 -40.4 -40383 0.6 ELF3 ARID4B THRB RARA TEAD3 NR2F6 MAFK SOX5 PAF1 ZNF511 CPNE6 CARMIL3 FITM1 PSME1 IRF9 EMC9 MIR7703 PSME2 RNF31 TM9SF1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around RNF31 on UCSC Golden Path with GeneCards custom track

Promoters for RNF31 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001456032 417 2601 HDGF PKNOX1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 SLC30A9 ZNF263

Genomic Location for RNF31 Gene

Chromosome:
14
Start:
24,146,683 bp from pter
End:
24,160,661 bp from pter
Size:
13,979 bases
Orientation:
Plus strand

Genomic View for RNF31 Gene

Genes around RNF31 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RNF31 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RNF31 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RNF31 Gene

Proteins for RNF31 Gene

  • Protein details for RNF31 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96EP0-RNF31_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase RNF31
    Protein Accession:
    Q96EP0
    Secondary Accessions:
    • A0A962
    • Q86VI2
    • Q8TEI0
    • Q96GB4
    • Q96NF1
    • Q9H5F1
    • Q9NWD2

    Protein attributes for RNF31 Gene

    Size:
    1072 amino acids
    Molecular mass:
    119652 Da
    Quaternary structure:
    • Component of the LUBAC complex (linear ubiquitin chain assembly complex) which consists of SHARPIN, RBCK1 and RNF31 (PubMed:17006537, PubMed:21455173, PubMed:21455180, PubMed:21455181). LUBAC has a MW of approximative 600 kDa suggesting a heteromultimeric assembly of its subunits (PubMed:17006537, PubMed:21455173, PubMed:21455180, PubMed:21455181). Associates with the TNF-R1 signaling complex (TNF-RSC) in a stimulation-dependent manner (PubMed:20005846). Interacts (via the PUB domain) with otulin (via the PIM motif); the interaction is direct (PubMed:23708998, PubMed:24726323, PubMed:24726327). Interacts (via the PUB domain) with VCP (via the PIM motif) (PubMed:24726327). Interacts with CYLD (PubMed:26997266). Interacts with MUSK (By similarity).
    SequenceCaution:
    • Sequence=BAB15675.1; Type=Erroneous termination; Positions=1060; Note=Translated as Glu.; Evidence={ECO:0000305}; Sequence=BAB15675.1; Type=Frameshift; Positions=1036; Evidence={ECO:0000305}; Sequence=BAB15675.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=BAB70948.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RNF31 Gene

    Alternative splice isoforms for RNF31 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RNF31 Gene

Post-translational modifications for RNF31 Gene

  • Autoubiquitinated. Interaction with OTULIN is required to prevent formation of Met-1-linked polyubiquitin chains.
  • Ubiquitination at Lys 99, Lys 330, Lys 454, Lys 458, Lys 579, Lys 640, and Lys 848
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RNF31 Gene

Domains & Families for RNF31 Gene

Gene Families for RNF31 Gene

Suggested Antigen Peptide Sequences for RNF31 Gene

Graphical View of Domain Structure for InterPro Entry

Q96EP0

UniProtKB/Swiss-Prot:

RNF31_HUMAN :
  • The PUB domain mediates interaction with the PIM motifs of VCP and RNF31, with a strong preference for RNF31.
  • Contains 1 IBR-type zinc finger.
Domain:
  • The PUB domain mediates interaction with the PIM motifs of VCP and RNF31, with a strong preference for RNF31.
  • The RanBP2-type zinc fingers mediate the specific interaction with ubiquitin.
  • The UBA domain mediates association with RBCK1/HOIL1 via interaction with its UBL domain.
  • RING 1 and IBR zinc-fingers catalyze the first step transfer of ubiquitin from the E2 onto RING 2, to transiently form a HECT-like covalent thioester intermediate.
  • The linear ubiquitin chain determining domain (LDD) mediates the final transfer of ubiquitin from RING 2 onto the N-terminus of a target ubiquitin.
  • Contains 1 PUB (PUG) domain.
  • Contains 1 UBA domain.
Similarity:
  • Contains 1 IBR-type zinc finger.
  • Contains 3 RanBP2-type zinc fingers.
  • Contains 2 RING-type zinc fingers.
genes like me logo Genes that share domains with RNF31: view

Function for RNF31 Gene

Molecular function for RNF31 Gene

UniProtKB/Swiss-Prot 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, PubMed:20005846, PubMed:21455173, PubMed:21455180, PubMed:21455181, PubMed:22863777). LUBAC conjugates linear polyubiquitin to IKBKG and RIPK1 and is involved in activation of the canonical NF-kappa-B and the JNK signaling pathways (PubMed:17006537, PubMed:19136968, PubMed:20005846, PubMed:21455173, PubMed:21455180, PubMed:21455181, PubMed:22863777). Linear ubiquitination mediated by the LUBAC complex interferes with TNF-induced cell death and thereby prevents inflammation (PubMed:21455173). LUBAC is proposed to be recruited to the TNF-R1 signaling complex (TNF-RSC) following polyubiquitination of TNF-RSC components by BIRC2 and/or BIRC3 and to conjugate linear polyubiquitin to IKBKG and possibly other components contributing to the stability of the complex (PubMed:20005846). Together with otulin, the LUBAC complex regulates the canonical Wnt signaling during angiogenesis. Binds polyubiquitin of different linkage types (PubMed:23708998).

Enzyme Numbers (IUBMB) for RNF31 Gene

Gene Ontology (GO) - Molecular Function for RNF31 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IEA,IDA 17006537
GO:0005515 protein binding IPI 17006537
GO:0008270 zinc ion binding IEA --
GO:0016874 ligase activity IEA --
GO:0031625 ubiquitin protein ligase binding IPI 23453807
genes like me logo Genes that share ontologies with RNF31: view
genes like me logo Genes that share phenotypes with RNF31: view

Human Phenotype Ontology for RNF31 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RNF31 Gene

MGI Knock Outs for RNF31:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for RNF31 Gene

Localization for RNF31 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RNF31 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RNF31 Gene COMPARTMENTS Subcellular localization image for RNF31 gene
Compartment Confidence
cytosol 5
nucleus 3
plasma membrane 3

Gene Ontology (GO) - Cellular Components for RNF31 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0009898 cytoplasmic side of plasma membrane ISS 20614026
GO:0035631 CD40 receptor complex ISS --
GO:0071797 LUBAC complex IEA,IDA 17006537
genes like me logo Genes that share ontologies with RNF31: view

Pathways & Interactions for RNF31 Gene

genes like me logo Genes that share pathways with RNF31: view

Pathways by source for RNF31 Gene

Gene Ontology (GO) - Biological Process for RNF31 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IDA 12629548
GO:0007249 I-kappaB kinase/NF-kappaB signaling TAS --
GO:0010803 regulation of tumor necrosis factor-mediated signaling pathway TAS --
GO:0016567 protein ubiquitination IEA --
GO:0023035 CD40 signaling pathway ISS --
genes like me logo Genes that share ontologies with RNF31: view

No data available for SIGNOR curated interactions for RNF31 Gene

Transcripts for RNF31 Gene

Unigene Clusters for RNF31 Gene

Ring finger protein 31:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RNF31 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c ^ 13a · 13b ^ 14 ^ 15a · 15b ^
SP1: - - - - -
SP2: - - - -
SP3: - - - - - -
SP4: - -
SP5: - -
SP6: - - - - -
SP7:
SP8:
SP9:
SP10: - -
SP11: -
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19: -
SP20: - -
SP21:
SP22:

ExUns: 16 ^ 17 ^ 18a · 18b · 18c ^ 19a · 19b ^ 20a · 20b ^ 21a · 21b ^ 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b · 26c ^ 27a · 27b ^ 28 ^ 29a · 29b · 29c ^ 30 ^ 31 ^
SP1:
SP2:
SP3:
SP4:
SP5: -
SP6:
SP7: - -
SP8: - -
SP9:
SP10:
SP11:
SP12:
SP13: - - - -
SP14:
SP15:
SP16:
SP17:
SP18: -
SP19:
SP20:
SP21:
SP22:

ExUns: 32 ^ 33a · 33b · 33c ^ 34a · 34b ^ 35 ^ 36a · 36b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9: - -
SP10:
SP11:
SP12:
SP13:
SP14:
SP15: -
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:

Relevant External Links for RNF31 Gene

GeneLoc Exon Structure for
RNF31
ECgene alternative splicing isoforms for
RNF31

Expression for RNF31 Gene

mRNA expression in normal human tissues for RNF31 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RNF31 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (14.7) and CD8 Tcells (9.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RNF31 Gene



Protein tissue co-expression partners for RNF31 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RNF31 Gene:

RNF31

SOURCE GeneReport for Unigene cluster for RNF31 Gene:

Hs.375217

mRNA Expression by UniProt/SwissProt for RNF31 Gene:

Q96EP0-RNF31_HUMAN
Tissue specificity: Expressed in both normal and transformed breast epithelial cell lines.
genes like me logo Genes that share expression patterns with RNF31: view

Primer Products

No data available for mRNA differential expression in normal tissues for RNF31 Gene

Orthologs for RNF31 Gene

This gene was present in the common ancestor of animals.

Orthologs for RNF31 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RNF31 34 35
  • 99.38 (n)
dog
(Canis familiaris)
Mammalia -- 35
  • 93 (a)
OneToMany
RNF31 34
  • 91.04 (n)
cow
(Bos Taurus)
Mammalia -- 35
  • 89 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Rnf31 34 16 35
  • 86.34 (n)
rat
(Rattus norvegicus)
Mammalia Rnf31 34
  • 86.32 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 79 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 77 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 35
  • 46 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 57 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia rnf31 34
  • 57.15 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.29731 34
zebrafish
(Danio rerio)
Actinopterygii LOC100334103 34
  • 61.61 (n)
CABZ01085085.1 35
  • 59 (a)
ManyToMany
CU693487.1 35
  • 36 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG11321 35
  • 8 (a)
OneToMany
Species where no ortholog for RNF31 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RNF31 Gene

ENSEMBL:
Gene Tree for RNF31 (if available)
TreeFam:
Gene Tree for RNF31 (if available)

Paralogs for RNF31 Gene

Paralogs for RNF31 Gene

genes like me logo Genes that share paralogs with RNF31: view

Variants for RNF31 Gene

Sequence variations from dbSNP and Humsavar for RNF31 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs794729666 Uncertain significance 24,147,998(-) TGGAC(A/G)GGGTG upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs1045220 -- 24,159,891(-) GAACC(C/T)CCTTC upstream-variant-2KB, reference, missense
rs10654242 -- 24,152,417(+) ATTTA(-/ATTT)TTTAT intron-variant
rs111312821 -- 24,152,272(+) TATTT(A/G)TCATC intron-variant
rs111795824 -- 24,151,550(+) CAGCA(C/T)GGAGG reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for RNF31 Gene

Variant ID Type Subtype PubMed ID
nsv1127374 CNV deletion 24896259
nsv564057 CNV loss 21841781
nsv7249 OTHER inversion 18451855

Variation tolerance for RNF31 Gene

Residual Variation Intolerance Score: 26% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.04; 60.53% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RNF31 Gene

Human Gene Mutation Database (HGMD)
RNF31
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RNF31

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RNF31 Gene

Disorders for RNF31 Gene

MalaCards: The human disease database

(4) MalaCards diseases for RNF31 Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
polyglucosan body myopathy 1 with or without immunodeficiency
  • pgbmi
otulipenia
  • autoinflammation, panniculitis and dermatosis syndrome
glycogen storage disease iv
  • amylopectinosis
hepatitis c virus
  • hepatitic c virus
- elite association - COSMIC cancer census association via MalaCards
Search RNF31 in MalaCards View complete list of genes associated with diseases

Relevant External Links for RNF31

Genetic Association Database (GAD)
RNF31
Human Genome Epidemiology (HuGE) Navigator
RNF31
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RNF31
genes like me logo Genes that share disorders with RNF31: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RNF31 Gene

Publications for RNF31 Gene

  1. Identification of the protein Zibra, its genomic organization, regulation, and expression in breast cancer cells. (PMID: 15093743) Thompson H.G.R. … Brody J.P. (Exp. Cell Res. 2004) 3 4 22 64
  2. CYLD limits Lys63- and Met1-linked ubiquitin at receptor complexes to regulate innate immune signaling. (PMID: 26997266) Hrdinka M. … Gyrd-Hansen M. (Cell Rep. 2016) 3 4 64
  3. Molecular basis and regulation of OTULIN-LUBAC interaction. (PMID: 24726323) Elliott P.R. … Komander D. (Mol. Cell 2014) 3 4 64
  4. Binding of OTULIN to the PUB domain of HOIP controls NF-I_B signaling. (PMID: 24726327) Schaeffer V. … Dikic I. (Mol. Cell 2014) 3 4 64
  5. The linear ubiquitin-specific deubiquitinase gumby regulates angiogenesis. (PMID: 23708998) Rivkin E. … Cordes S.P. (Nature 2013) 3 4 64

Products for RNF31 Gene

Sources for RNF31 Gene

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