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Aliases for RBCK1 Gene

Aliases for RBCK1 Gene

  • RanBP-Type And C3HC4-Type Zinc Finger Containing 1 2 3
  • Heme-Oxidized IRP2 Ubiquitin Ligase 1 2 3 4
  • Ubiquitin-Conjugating Enzyme 7-Interacting Protein 3 3 4
  • Hepatitis B Virus X-Associated Protein 4 3 4
  • HBV-Associated Factor 4 3 4
  • RING Finger Protein 54 3 4
  • C20orf18 3 4
  • UBCE7IP3 3 4
  • HOIL-1 3 4
  • HOIL1 3 6
  • RNF54 3 4
  • XAP3 3 4
  • XAP4 3 4
  • RanBP-Type And C3HC4-Type Zinc Finger-Containing Protein 1 3
  • Ubiquitin Conjugating Enzyme 7 Interacting Protein 3 3
  • Chromosome 20 Open Reading Frame 18 2
  • RBCC Protein Interacting With PKC1 3
  • HBV Associated Factor 4 3
  • EC 6.3.2.- 4
  • ZRANB4 3
  • PBMEI 3
  • PGBM1 3
  • RBCK2 3

External Ids for RBCK1 Gene

Previous Symbols for RBCK1 Gene

  • C20orf18

Summaries for RBCK1 Gene

Entrez Gene Summary for RBCK1 Gene

  • The protein encoded by this gene is similar to mouse UIP28/UbcM4 interacting protein. Alternative splicing has been observed at this locus, resulting in distinct isoforms. [provided by RefSeq, Jul 2008]

GeneCards Summary for RBCK1 Gene

RBCK1 (RanBP-Type And C3HC4-Type Zinc Finger Containing 1) is a Protein Coding gene. Diseases associated with RBCK1 include polyglucosan body myopathy and polyglucosan body myopathy 1 with or without immunodeficiency. Among its related pathways are Class I MHC mediated antigen processing and presentation and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and ubiquitin binding. An important paralog of this gene is SHARPIN.

UniProtKB/Swiss-Prot for RBCK1 Gene

  • E3 ubiquitin-protein ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, such as UBE2L3/UBCM4, and then transfers it to substrates. Functions as an E3 ligase for oxidized IREB2 and both heme and oxygen are necessary for IREB2 ubiquitination. Promotes ubiquitination of TAB2 and IRF3 and their degradation by the proteasome. 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. LUBAC conjugates linear polyubiquitin to IKBKG and RIPK1 and is involved in activation of the canonical NF-kappa-B and the JNK signaling pathways. Linear ubiquitination mediated by the LUBAC complex interferes with TNF-induced cell death and thereby prevents inflammation. 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. Together with FAM105B/otulin, the LUBAC complex regulates the canonical Wnt signaling during angiogenesis. Binds polyubiquitin of different linkage types.

Gene Wiki entry for RBCK1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RBCK1 Gene

Genomics for RBCK1 Gene

Genomic Location for RBCK1 Gene

Start:
407,498 bp from pter
End:
430,966 bp from pter
Size:
23,469 bases
Orientation:
Plus strand

Genomic View for RBCK1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RBCK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RBCK1 Gene

Regulatory Elements for RBCK1 Gene

Proteins for RBCK1 Gene

  • Protein details for RBCK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYM8-HOIL1_HUMAN
    Recommended name:
    RanBP-type and C3HC4-type zinc finger-containing protein 1
    Protein Accession:
    Q9BYM8
    Secondary Accessions:
    • O95623
    • Q86SL2
    • Q96BS3
    • Q9BYM9

    Protein attributes for RBCK1 Gene

    Size:
    510 amino acids
    Molecular mass:
    57572 Da
    Quaternary structure:
    • Forms homodimers in vitro (By similarity). Component of the LUBAC complex (linear ubiquitin chain assembly complex) which consists of SHARPIN, RBCK1 and RNF31. LUBAC has a MW of approximative 600 kDa suggesting a heteromultimeric assembly of its subunits. Interacts with beta-I-type (PRKCB1) and zeta-type protein kinase C (PRKCZ) and with UBE2L3. Interacts with PRKCH. Interacts with the HBV pX/HBx protein, which is required to activate transcription of the viral genome. Isoform 1 and isoform 2 interact with IREB2 only in iron-rich conditions. Associates with the TNF-R1 signaling complex (TNF-RSC) in a stimulation-dependent manner. Interacts with EYA1, TAB2, TAB3, MAP3K7 TRAF6 and RIPK1. Interacts with IRF3.
    SequenceCaution:
    • Sequence=AAH15219.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RBCK1 Gene

    Alternative splice isoforms for RBCK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RBCK1 Gene

Proteomics data for RBCK1 Gene at MOPED

Post-translational modifications for RBCK1 Gene

  • Auto-ubiquitinated. Auto-ubiquitination leads to degradation by the proteasome (By similarity).
  • Phosphorylated. In vitro, phosphorylation inhibits auto-ubiquitination activity (By similarity).
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys29, Lys158, Lys174, Lys254, and Lys342

No data available for DME Specific Peptides for RBCK1 Gene

Domains for RBCK1 Gene

Gene Families for RBCK1 Gene

HGNC:
  • RNF :RING-type (C3HC4) zinc fingers
  • ZRANB :Zinc fingers, RAN-binding domain containing

UniProtKB/Swiss-Prot:

HOIL1_HUMAN
Domain:
  • The RanBP2-type zinc finger, also called Npl4 zinc finger (NZF), mediates binding to Met-1-linked polyubiquitins.:
    • Q9BYM8
  • The UBL domain mediates association with RNF31 via interaction with its UBA domain.:
    • Q9BYM8
  • Contains 1 ubiquitin-like domain.:
    • Q9BYM8
Similarity:
  • Contains 1 IBR-type zinc finger.:
    • Q9BYM8
  • Contains 1 RanBP2-type zinc finger.:
    • Q9BYM8
  • Contains 2 RING-type zinc fingers.:
    • Q9BYM8
genes like me logo Genes that share domains with RBCK1: view

Function for RBCK1 Gene

Molecular function for RBCK1 Gene

UniProtKB/Swiss-Prot Function: E3 ubiquitin-protein ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, such as UBE2L3/UBCM4, and then transfers it to substrates. Functions as an E3 ligase for oxidized IREB2 and both heme and oxygen are necessary for IREB2 ubiquitination. Promotes ubiquitination of TAB2 and IRF3 and their degradation by the proteasome. 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. LUBAC conjugates linear polyubiquitin to IKBKG and RIPK1 and is involved in activation of the canonical NF-kappa-B and the JNK signaling pathways. Linear ubiquitination mediated by the LUBAC complex interferes with TNF-induced cell death and thereby prevents inflammation. 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. Together with FAM105B/otulin, the LUBAC complex regulates the canonical Wnt signaling during angiogenesis. Binds polyubiquitin of different linkage types.
UniProtKB/Swiss-Prot Induction: By viral transfection.

Enzyme Numbers (IUBMB) for RBCK1 Gene

Gene Ontology (GO) - Molecular Function for RBCK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003700 NOT sequence-specific DNA binding transcription factor activity TAS 16083853
GO:0004842 ubiquitin-protein transferase activity IDA 12629548
GO:0005515 protein binding IPI 16083853
GO:0008270 zinc ion binding IEA --
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with RBCK1: view

Phenotypes for RBCK1 Gene

genes like me logo Genes that share phenotypes with RBCK1: view

Animal Models for RBCK1 Gene

MGI Knock Outs for RBCK1:

miRNA for RBCK1 Gene

miRTarBase miRNAs that target RBCK1

No data available for Transcription Factor Targeting and HOMER Transcription for RBCK1 Gene

Localization for RBCK1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RBCK1 Gene COMPARTMENTS Subcellular localization image for RBCK1 gene
Compartment Confidence
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for RBCK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0071797 LUBAC complex IDA 17006537
genes like me logo Genes that share ontologies with RBCK1: view

Pathways for RBCK1 Gene

genes like me logo Genes that share pathways with RBCK1: view

Gene Ontology (GO) - Biological Process for RBCK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IDA 12629548
GO:0016032 viral process IEA --
GO:0032088 negative regulation of NF-kappaB transcription factor activity IDA 17449468
GO:0042346 positive regulation of NF-kappaB import into nucleus IEA --
GO:0043065 positive regulation of apoptotic process --
genes like me logo Genes that share ontologies with RBCK1: view

Transcripts for RBCK1 Gene

Unigene Clusters for RBCK1 Gene

RanBP-type and C3HC4-type zinc finger containing 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RBCK1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3a · 3b · 3c · 3d ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b ·
SP1: - -
SP2:
SP3: - - - - - - - - - -
SP4: - - - - - -
SP5:
SP6: - - - - - - - - - - -
SP7: - - - -
SP8:
SP9:
SP10:
SP11: - -
SP12: - - - - - - - -
SP13:
SP14: - - - - - - - -
SP15: - - - - - - - -
SP16:
SP17: - - -

ExUns: 11c ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16a · 16b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: -
SP9:
SP10: -
SP11:
SP12:
SP13:
SP14:
SP15:
SP16: -
SP17:

Relevant External Links for RBCK1 Gene

GeneLoc Exon Structure for
RBCK1
ECgene alternative splicing isoforms for
RBCK1

Expression for RBCK1 Gene

mRNA expression in normal human tissues for RBCK1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for RBCK1 Gene

SOURCE GeneReport for Unigene cluster for RBCK1 Gene Hs.247280

genes like me logo Genes that share expressions with RBCK1: view

Orthologs for RBCK1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RBCK1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RBCK1 36
  • 99.67 (n)
  • 99.8 (a)
RBCK1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C20ORF18 37
  • 95 (a)
OneToOne
RBCK1 36
  • 90.92 (n)
  • 94.71 (a)
dog
(Canis familiaris)
Mammalia RBCK1 36
  • 91.9 (n)
  • 94.71 (a)
RBCK1 37
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rbck1 36
  • 87.8 (n)
  • 91.54 (a)
Rbck1 16
Rbck1 37
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RBCK1 37
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rbck1 36
  • 87.07 (n)
  • 91.14 (a)
lizard
(Anolis carolinensis)
Reptilia RBCK1 37
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491300 36
  • 67.2 (n)
  • 63.6 (a)
zebrafish
(Danio rerio)
Actinopterygii rbck1 36
  • 58.5 (n)
  • 54.86 (a)
rbck1 37
  • 52 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 48 (a)
OneToMany
Species with no ortholog for RBCK1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 RBCK1 Gene

ENSEMBL:
Gene Tree for RBCK1 (if available)
TreeFam:
Gene Tree for RBCK1 (if available)

Paralogs for RBCK1 Gene

Paralogs for RBCK1 Gene

Selected SIMAP similar genes for RBCK1 Gene using alignment to 9 proteins:

genes like me logo Genes that share paralogs with RBCK1: view

Variants for RBCK1 Gene

Sequence variations from dbSNP and Humsavar for RBCK1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type MAF
rs7059 -- 410,526(+) TTGTA(C/T)ACACT intron-variant
rs959093 -- 419,117(+) GTGTT(A/G)TGCTG intron-variant
rs1040755 -- 427,609(-) CTCTA(A/T)GTCAT intron-variant
rs1045368 -- 430,722(+) CTCCC(A/C)CCACA utr-variant-3-prime, nc-transcript-variant
rs1045374 -- 430,755(+) GCACT(C/T)TCAGC utr-variant-3-prime, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for RBCK1 Gene

Variant ID Type Subtype PubMed ID
nsv510777 CNV Loss 20534489
nsv458841 CNV Loss 19166990
nsv458842 CNV Loss 19166990
dgv4508n71 CNV Gain 21882294
nsv912562 CNV Loss 21882294
nsv912563 CNV Loss 21882294
dgv4509n71 CNV Gain 21882294
nsv912567 CNV Loss 21882294
nsv912568 CNV Gain 21882294
nsv510479 CNV Loss 20534489

Relevant External Links for RBCK1 Gene

HapMap Linkage Disequilibrium report
RBCK1
Human Gene Mutation Database (HGMD)
RBCK1

Disorders for RBCK1 Gene

UniProtKB/Swiss-Prot

HOIL1_HUMAN
  • Polyglucosan body myopathy 1 with or without immunodeficiency (PGBM1) [MIM:615895]: A disease characterized by polyglucosan storage myopathy associated with early-onset progressive muscle weakness and progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. Some patients present with severe immunodeficiency, invasive bacterial infections and chronic autoinflammation. {ECO:0000269 PubMed:23104095, ECO:0000269 PubMed:23798481}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for RBCK1 Gene

genes like me logo Genes that share disorders with RBCK1: view

Publications for RBCK1 Gene

  1. Negative feedback regulation of cellular antiviral signaling by RBCK1-mediated degradation of IRF3. (PMID: 18711448) Zhang M. … Shu H.B. (Cell Res. 2008) 3 4 23
  2. Accumulation of polyubiquitinated proteins by overexpression of RBCC protein interacting with protein kinase C2, a splice variant of ubiquitin ligase RBCC protein interacting with protein kinase C1. (PMID: 19796170) Yoshimoto N. … Kuroda S. (FEBS J. 2009) 3 23
  3. Cytoplasmic tethering of a RING protein RBCK1 by its splice variant lacking the RING domain. (PMID: 16083853) Yoshimoto N. … Kuroda S. (Biochem. Biophys. Res. Commun. 2005) 3 23
  4. RBCK1, a protein kinase CbetaI (PKCbetaI)-interacting protein, regulates PKCbeta-dependent function. (PMID: 17121852) Vallentin A. … Mochly-Rosen D. (J. Biol. Chem. 2007) 3 23
  5. Identification of ubiquitin ligase activity of RBCK1 and its inhibition by splice variant RBCK2 and protein kinase Cbeta. (PMID: 18303026) Tatematsu K. … Kuroda S. (J. Biol. Chem. 2008) 3 23

Products for RBCK1 Gene

  • Addgene plasmids for RBCK1

Sources for RBCK1 Gene

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