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Aliases for RBCK1 Gene

Aliases for RBCK1 Gene

  • RANBP2-Type And C3HC4-Type Zinc Finger Containing 1 2 3 5
  • Heme-Oxidized IRP2 Ubiquitin Ligase 1 2 3 4
  • RING-Type E3 Ubiquitin Transferase HOIL-1 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
  • 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
  • Ubiquitin-Conjugating Enzyme 7-Interacting Protein 3 4
  • RanBP-Type And C3HC4-Type Zinc Finger Containing 1 2
  • Chromosome 20 Open Reading Frame 18 2
  • RBCC Protein Interacting With PKC1 3
  • EC 2.3.2.27 4
  • ZRANB4 3
  • HOIL1 3
  • PBMEI 3
  • PGBM1 3
  • RBCK2 3

External Ids for RBCK1 Gene

Previous HGNC Symbols for RBCK1 Gene

  • C20orf18

Previous GeneCards Identifiers for RBCK1 Gene

  • GC20P000337
  • GC20P000388

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 (RANBP2-Type And C3HC4-Type Zinc Finger Containing 1) is a Protein Coding gene. Diseases associated with RBCK1 include Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency and Glycogen Storage Disease Iv. Among its related pathways are Toll-like Receptor Signaling Pathway and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and ubiquitin-protein transferase activity. 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

Additional gene information for RBCK1 Gene

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

Genomics for RBCK1 Gene

GeneHancer (GH) Regulatory Elements for RBCK1 Gene

Promoters and enhancers for RBCK1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J000406 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 664.8 +1.1 1091 3.8 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 RBCK1 TBC1D20 CSNK2A1 ACTG1P3 GC20P000435
GH20J001185 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 29.7 +779.4 779386 3.8 HDGF ARNT ARID4B YBX1 DMAP1 YY1 SLC30A9 POLR2B CBX5 E2F8 TMEM74B LOC105372496 ENSG00000274269 TBC1D20 ACTG1P3 RBCK1 ENSG00000229728 SDCBP2-AS1 PSMF1
GH20J000360 Enhancer 1.5 Ensembl ENCODE dbSUPER 25.7 -43.6 -43568 7.8 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 TRIB3 TBC1D20 RBCK1 ACTG1P3 ENSG00000206797 ENSG00000229728 CSNK2A1 C20orf96 SLC52A3 GC20P000385
GH20J000651 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 13.6 +245.5 245541 2.7 HDGF PKNOX1 SMAD1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 SRXN1 GC20P000653 TBC1D20 ACTG1P3 RBCK1 ENSG00000229728 GC20M000621 ENSG00000270299
GH20J000377 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 12.8 -26.4 -26432 6.4 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 TRIB3 GC20P000386 GC20P000387 GC20P000389 GC20P000390 GC20P000385 GC20P000384 GC20P000382 SOX12 ACTG1P3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RBCK1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RBCK1 gene promoter:
  • NF-kappaB1
  • NF-kappaB
  • ER-alpha
  • HOXA3
  • Elk-1
  • LCR-F1
  • Brachyury
  • Arnt

Genomic Locations for RBCK1 Gene

Genomic Locations for RBCK1 Gene
chr20:407,498-430,966
(GRCh38/hg38)
Size:
23,469 bases
Orientation:
Plus strand
chr20:388,142-411,610
(GRCh37/hg19)
Size:
23,469 bases
Orientation:
Plus strand

Genomic View for RBCK1 Gene

Genes around RBCK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RBCK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RBCK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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 approximately 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

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).
  • Ubiquitination at Lys342, posLast=254254, posLast=174174, Lys158, and posLast=2929
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RBCK1 Gene

Domains & Families for RBCK1 Gene

Gene Families for RBCK1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

Q9BYM8

UniProtKB/Swiss-Prot:

HOIL1_HUMAN :
  • The RanBP2-type zinc finger, also called Npl4 zinc finger (NZF), mediates binding to Met-1-linked polyubiquitins.
Domain:
  • The RanBP2-type zinc finger, also called Npl4 zinc finger (NZF), mediates binding to Met-1-linked polyubiquitins.
  • The UBL domain mediates association with RNF31 via interaction with its UBA domain.
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 CatalyticActivity:
S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.
UniProtKB/Swiss-Prot Induction:
By viral transfection.

Enzyme Numbers (IUBMB) for RBCK1 Gene

Phenotypes From GWAS Catalog for RBCK1 Gene

Gene Ontology (GO) - Molecular Function for RBCK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity TAS --
GO:0005515 protein binding IPI,IEA 16643902
GO:0016740 transferase activity IEA --
GO:0043130 ubiquitin binding IDA 21455181
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with RBCK1: view
genes like me logo Genes that share phenotypes with RBCK1: view

Human Phenotype Ontology for RBCK1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RBCK1 Gene

MGI Knock Outs for RBCK1:

Animal Model Products

Clone Products

  • Addgene plasmids for RBCK1

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

Localization for RBCK1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RBCK1 gene
Compartment Confidence
cytosol 5
nucleus 3

Gene Ontology (GO) - Cellular Components for RBCK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex IBA --
GO:0005829 cytosol TAS --
GO:0071797 LUBAC complex IDA 17006537
genes like me logo Genes that share ontologies with RBCK1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for RBCK1 Gene

Pathways & Interactions 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 TAS --
GO:0007249 I-kappaB kinase/NF-kappaB signaling TAS --
GO:0010803 regulation of tumor necrosis factor-mediated signaling pathway TAS --
GO:0016032 viral process IEA --
GO:0032088 negative regulation of NF-kappaB transcription factor activity IDA 17449468
genes like me logo Genes that share ontologies with RBCK1: view

No data available for SIGNOR curated interactions for RBCK1 Gene

Drugs & Compounds for RBCK1 Gene

No Compound Related Data Available

Transcripts for RBCK1 Gene

Unigene Clusters for RBCK1 Gene

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

Clone Products

  • Addgene plasmids for RBCK1

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for RBCK1 Gene

Protein differential expression in normal tissues from HIPED for RBCK1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (17.7), Lung (10.7), and CD8 Tcells (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RBCK1 Gene



Protein tissue co-expression partners for RBCK1 Gene

NURSA nuclear receptor signaling pathways regulating expression of RBCK1 Gene:

RBCK1

SOURCE GeneReport for Unigene cluster for RBCK1 Gene:

Hs.247280

Evidence on tissue expression from TISSUES for RBCK1 Gene

  • Lung(4.5)
  • Intestine(2.9)
  • Nervous system(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RBCK1 Gene

Germ Layers:
  • mesoderm
Systems:
  • cardiovascular
  • skeletal muscle
Regions:
Head and neck:
  • ear
Thorax:
  • heart
  • heart valve
Limb:
  • lower limb
  • upper limb
genes like me logo Genes that share expression patterns with RBCK1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for RBCK1 Gene

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 34 33
  • 99.67 (n)
OneToOne
cow
(Bos Taurus)
Mammalia C20ORF18 34
  • 95 (a)
OneToOne
RBCK1 33
  • 90.92 (n)
dog
(Canis familiaris)
Mammalia RBCK1 34 33
  • 91.9 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rbck1 16 34 33
  • 87.8 (n)
rat
(Rattus norvegicus)
Mammalia Rbck1 33
  • 87.07 (n)
oppossum
(Monodelphis domestica)
Mammalia RBCK1 34
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RBCK1 34
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491300 33
  • 67.2 (n)
zebrafish
(Danio rerio)
Actinopterygii rbck1 34 33
  • 58.5 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 48 (a)
OneToMany
Species where no ortholog for RBCK1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for RBCK1: view image

Paralogs for RBCK1 Gene

Paralogs for RBCK1 Gene

(1) SIMAP similar genes for RBCK1 Gene using alignment to 9 proteins:

  • HOIL1_HUMAN
  • A6PVJ5_HUMAN
  • A6PVJ6_HUMAN
  • A6PVJ7_HUMAN
  • A6PVK0_HUMAN
  • B4DML5_HUMAN
  • G3XAG9_HUMAN
  • H0Y4S7_HUMAN
  • Q5JWR1_HUMAN
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 Variation AA Info Type
rs146804136 benign, Polyglucosan body myopathy 1 with or without immunodeficiency 419,734(+) G/A genic_downstream_transcript_variant, intron_variant
rs370963132 uncertain-significance, Polyglucosan body myopathy 1 with or without immunodeficiency 427,323(+) C/G coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs377605009 uncertain-significance, Polyglucosan body myopathy 1 with or without immunodeficiency 420,896(+) A/G coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs41281892 benign, Polyglucosan body myopathy 1 with or without immunodeficiency 410,002(+) G/A 5_prime_UTR_variant, coding_sequence_variant, intron_variant, non_coding_transcript_variant, synonymous_variant
rs566912235 pathogenic, Polyglucosan body myopathy 1 with or without immunodeficiency, Polyglucosan body myopathy 1 with or without immunodeficiency (PGBM1) [MIM:615895] 427,443(+) A/G coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
dgv4219n100 CNV gain 25217958
esv3644952 CNV gain 21293372
esv3644953 CNV gain 21293372
esv3644956 CNV gain 21293372
esv3893263 CNV loss 25118596
nsv1056266 CNV gain 25217958
nsv1066598 CNV gain 25217958
nsv458841 CNV loss 19166990
nsv458842 CNV loss 19166990
nsv510479 OTHER sequence alteration 20534489
nsv510777 CNV deletion 20534489
nsv585170 CNV loss 21841781
nsv585171 CNV loss 21841781

Variation tolerance for RBCK1 Gene

Residual Variation Intolerance Score: 15.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.62; 13.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RBCK1 Gene

Human Gene Mutation Database (HGMD)
RBCK1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RBCK1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RBCK1 Gene

Disorders for RBCK1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for RBCK1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search RBCK1 in MalaCards View complete list of genes associated with diseases

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.

Additional Disease Information for RBCK1

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

No data available for Genatlas for RBCK1 Gene

Publications for RBCK1 Gene

  1. Negative feedback regulation of cellular antiviral signaling by RBCK1-mediated degradation of IRF3. (PMID: 18711448) Zhang M … Shu HB (Cell research 2008) 3 4 22 58
  2. Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1. (PMID: 23798481) Nilsson J … Oldfors A (Annals of neurology 2013) 3 4 58
  3. Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency. (PMID: 23104095) Boisson B … Picard C (Nature immunology 2012) 3 4 58
  4. Solution structure of the E3 ligase HOIL-1 Ubl domain. (PMID: 22517668) Beasley SA … Shaw GS (Protein science : a publication of the Protein Society 2012) 3 4 58
  5. A non-canonical UBA-UBL interaction forms the linear-ubiquitin-chain assembly complex. (PMID: 22430200) Yagi H … Kato K (EMBO reports 2012) 3 4 58

Products for RBCK1 Gene

Sources for RBCK1 Gene

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