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] See more...

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
  • RanBP-Type And C3HC4-Type Zinc Finger-Containing Protein 1 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
  • 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 2.3.2.31 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 TNF signaling (REACTOME). 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 Summary 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 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 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 , Rfam classification and piRNA Summary for RBCK1 Gene

Genomics for RBCK1 Gene

GeneHancer (GH) Regulatory Elements for RBCK1 Gene

Promoters and enhancers for RBCK1 Gene
- 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

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RBCK1

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

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:
    • 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. 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.
    • (Microbial infection) Interacts with hepatitis B virus/HBV protein HBx; this interaction is required to activate transcription of the viral genome.
    Miscellaneous:
    • [Isoform 3]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    SequenceCaution:
    • Sequence=AAH15219.2; Type=Erroneous initiation; Note=Truncated N-terminus.; 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 Lys29, Lys158, Lys174, Lys254, and Lys342
  • 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

Protein Domains for RBCK1 Gene

Blocks:
  • Zn-finger, RING
  • Ubiquitin domain
  • Zn-finger, Ran-binding
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RBCK1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60704, highly similar to RanBP-type and C3HC4-type zincfinger-containing protein 1 (B4DML5_HUMAN)
  • Ubiquitin-conjugating enzyme 7-interacting protein 3 (HOIL1_HUMAN)
  • RanBP-type and C3HC4-type zinc finger containing 1 (Q5JWR0_HUMAN)

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.
  • Belongs to the RBR family.
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.
Family:
  • Belongs to the RBR family.
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 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 OTULIN, the LUBAC complex regulates the canonical Wnt signaling during angiogenesis. Binds polyubiquitin of different linkage types.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[E2 ubiquitin-conjugating enzyme]-S-ubiquitinyl-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-N(6)-ubiquitinyl-L-lysine.; EC=2.3.2.31; Evidence=. ;.
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 IDA,IBA 12629548
GO:0005515 protein binding IEA,IPI 16643902
GO:0016740 transferase activity IEA --
GO:0042802 identical protein binding IPI 25416956
GO:0043130 ubiquitin binding IDA 21455181
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:
  • Rbck1 Rbck1<tm1Kiwa>
  • Rbck1 Rbck1<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR 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 4
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for RBCK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

SIGNOR curated interactions for RBCK1 Gene

Inactivates:

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

Drugs & Compounds for RBCK1 Gene

No Compound Related Data Available

Transcripts for RBCK1 Gene

mRNA/cDNA for RBCK1 Gene

7 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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

Expression for RBCK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31 30
  • 99.67 (n)
OneToOne
cow
(Bos Taurus)
Mammalia C20ORF18 31
  • 95 (a)
OneToOne
RBCK1 30
  • 90.92 (n)
dog
(Canis familiaris)
Mammalia RBCK1 31 30
  • 91.9 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rbck1 17 31 30
  • 87.8 (n)
rat
(Rattus norvegicus)
Mammalia Rbck1 30
  • 87.07 (n)
oppossum
(Monodelphis domestica)
Mammalia RBCK1 31
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RBCK1 31
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491300 30
  • 67.2 (n)
zebrafish
(Danio rerio)
Actinopterygii rbck1 31 30
  • 58.5 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RBCK1 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
639908 Uncertain Significance: Polyglucosan body myopathy 1 with or without immunodeficiency 419,674(+) C/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
641514 Uncertain Significance: Polyglucosan body myopathy 1 with or without immunodeficiency 420,874(+) AAGC/A NON_CODING_TRANSCRIPT_VARIANT,INFRAME_DELETION,INTRON_VARIANT
642015 Uncertain Significance: Polyglucosan body myopathy 1 with or without immunodeficiency 417,531(+) G/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
642206 Uncertain Significance: Polyglucosan body myopathy 1 with or without immunodeficiency 420,959(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
646669 Uncertain Significance: Polyglucosan body myopathy 1 with or without immunodeficiency 419,436(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for RBCK1 Gene

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

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

Disorder Aliases PubMed IDs
polyglucosan body myopathy 1 with or without immunodeficiency
  • pgbm1
glycogen storage disease iv
  • amylopectinosis
incontinentia pigmenti
  • incontinentia pigmenti achromians
myopathy
  • muscular diseases
hepatitis b
  • chronic hepatitis b
- 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 23 54
  2. Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1. (PMID: 23798481) Nilsson J … Oldfors A (Annals of neurology 2013) 3 4 54
  3. A non-canonical UBA-UBL interaction forms the linear-ubiquitin-chain assembly complex. (PMID: 22430200) Yagi H … Kato K (EMBO reports 2012) 3 4 54
  4. Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency. (PMID: 23104095) Boisson B … Picard C (Nature immunology 2012) 3 4 54
  5. 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 54

Products for RBCK1 Gene