RBCK1

RBCK1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2CRC, 2LGY, 4DBG
Identifiers
Aliases	RBCK1, C20orf18, HOIL-1, HOIL1, PBMEI, RBCK2, RNF54, UBCE7IP3, XAP3, XAP4, ZRANB4, PGBM1, RANBP2-type and C3HC4-type zinc finger containing 1
External IDs	OMIM: 610924 MGI: 1344372 HomoloGene: 32448 GeneCards: RBCK1
Gene location (Human)
Chr.	Chromosome 20 (human)[1]
End	430,966 bp[1]
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)[2]
End	152,332,653 bp[2]
RNA expression pattern
	More reference expression data
Gene ontology
Molecular function	• GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity; • metal ion binding; • ubiquitin binding; • GO:0001948 protein binding; • ubiquitin-protein transferase activity; • transferase activity; • identical protein binding;
Cellular component	• cytosol; • LUBAC complex;
Biological process	• negative regulation of necroptotic process; • regulation of tumor necrosis factor-mediated signaling pathway; • positive regulation of NF-kappaB transcription factor activity; • positive regulation of apoptotic process; • positive regulation of I-kappaB kinase/NF-kappaB signaling; • positive regulation of extrinsic apoptotic signaling pathway; • GO:0022415 viral process; • I-kappaB kinase/NF-kappaB signaling; • negative regulation of NF-kappaB transcription factor activity; • T cell receptor signaling pathway; • protein linear polyubiquitination; • proteasome-mediated ubiquitin-dependent protein catabolic process; • protein polyubiquitination; • positive regulation of NIK/NF-kappaB signaling; • regulation of transcription, DNA-templated;
	Sources:Amigo / QuickGO
Orthologs
	10616
	24105
	ENSG00000125826
	ENSMUSG00000027466
	Q9BYM8
	Q9WUB0
NM_006462; NM_031227; NM_031228; NM_031229; NM_001323956;
	NM_001323958; NM_001323960
	NM_001083921; NM_019705; NM_001355282
	NP_001310885; NP_001310887; NP_001310889; NP_006453; NP_112506
	NP_001077390; NP_062679; NP_001342211
	Wikidata
View/Edit Human	View/Edit Mouse

RanBP-type and C3HC4-type zinc finger-containing protein 1 is a protein that in humans is encoded by the RBCK1 gene.[5]

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.[5]

Clinical significance

A family quartet was found with two children, both affected with a previously unreported disease, characterized by progressive muscular weakness and cardiomyopathy, with normal intelligence. During the course of the study, one additional unrelated patient was found with a comparable phenotype. From whole-genome sequence data, RBCK1, a gene encoding an E3 ubiquitin-protein ligase, was identified as the most likely candidate gene, with two protein-truncating mutations in probands in the first family. Sanger sequencing identified a private homozygous splice variant in RBCK1 in the proband in the second family, yet single-nucleotide polymorphism (SNP) genotyping revealed a 1.2Mb copy-neutral region of homozygosity covering RBCK1. RNA-Seq confirmed aberrant splicing of RBCK1 transcripts, resulting in truncated protein products.[6] Ten other individuals with mutations in RBCK1 and overlapping phenotypes have been identified.[7]

References

GRCh38: Ensembl release 89: ENSG00000125826 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000027466 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Entrez Gene: RBCK1 RanBP-type and C3HC4-type zinc finger containing 1".
Wang K, Kim C, Bradfield J, Guo Y, Toskala E, Otieno FG, Hou C, Thomas K, Cardinale C, Lyon GJ, Golhar R, Hakonarson H (2013). "Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement". Genome Medicine. 5 (7): 67. doi:10.1186/gm471. PMC 3971341. PMID 23889995.
Nilsson J, Schoser B, Laforet P, Kalev O, Lindberg C, Romero NB, Dávila López M, Akman HO, Wahbi K, Iglseder S, Eggers C, Engel AG, Dimauro S, Oldfors A (Dec 2013). "Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1". Annals of Neurology. 74 (6): 914–919. doi:10.1002/ana.23963. PMID 23798481. S2CID 205344695.

Martinez-Noel G, Niedenthal R, Tamura T, Harbers K (Jul 1999). "A family of structurally related RING finger proteins interacts specifically with the ubiquitin-conjugating enzyme UbcM4". FEBS Letters. 454 (3): 257–61. doi:10.1016/S0014-5793(99)00823-6. PMID 10431818. S2CID 46159115.
Yamanaka K, Ishikawa H, Megumi Y, Tokunaga F, Kanie M, Rouault TA, Morishima I, Minato N, Ishimori K, Iwai K (Apr 2003). "Identification of the ubiquitin-protein ligase that recognizes oxidized IRP2". Nature Cell Biology. 5 (4): 336–40. doi:10.1038/ncb952. PMID 12629548. S2CID 20453941.
Hillman RT, Green RE, Brenner SE (2005). "An unappreciated role for RNA surveillance". Genome Biology. 5 (2): R8. doi:10.1186/gb-2004-5-2-r8. PMC 395752. PMID 14759258.
Tatematsu K, Yoshimoto N, Koyanagi T, Tokunaga C, Tachibana T, Yoneda Y, Yoshida M, Okajima T, Tanizawa K, Kuroda S (Jun 2005). "Nuclear-cytoplasmic shuttling of a RING-IBR protein RBCK1 and its functional interaction with nuclear body proteins". The Journal of Biological Chemistry. 280 (24): 22937–44. doi:10.1074/jbc.M413476200. PMID 15833741.
Zhang Y, Wolf-Yadlin A, Ross PL, Pappin DJ, Rush J, Lauffenburger DA, White FM (Sep 2005). "Time-resolved mass spectrometry of tyrosine phosphorylation sites in the epidermal growth factor receptor signaling network reveals dynamic modules". Molecular & Cellular Proteomics. 4 (9): 1240–50. doi:10.1074/mcp.M500089-MCP200. PMID 15951569.
Yoshimoto N, Tatematsu K, Koyanagi T, Okajima T, Tanizawa K, Kuroda S (Sep 2005). "Cytoplasmic tethering of a RING protein RBCK1 by its splice variant lacking the RING domain". Biochemical and Biophysical Research Communications. 335 (2): 550–7. doi:10.1016/j.bbrc.2005.07.104. PMID 16083853.
Bayle J, Lopez S, Iwaï K, Dubreuil P, De Sepulveda P (May 2006). "The E3 ubiquitin ligase HOIL-1 induces the polyubiquitination and degradation of SOCS6 associated proteins". FEBS Letters. 580 (11): 2609–14. doi:10.1016/j.febslet.2006.03.093. PMID 16643902. S2CID 44648698.
Tian Y, Zhang Y, Zhong B, Wang YY, Diao FC, Wang RP, Zhang M, Chen DY, Zhai ZH, Shu HB (Jun 2007). "RBCK1 negatively regulates tumor necrosis factor- and interleukin-1-triggered NF-kappaB activation by targeting TAB2/3 for degradation". The Journal of Biological Chemistry. 282 (23): 16776–82. doi:10.1074/jbc.M701913200. PMID 17449468.
Wang K, Kim C, Bradfield J, Guo Y, Toskala E, Otieno FG, Hou C, Thomas K, Cardinale C, Lyon GJ, Golhar R, Hakonarson H (2013). "Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement". Genome Medicine. 5 (7): 67. doi:10.1186/gm471. PMC 3971341. PMID 23889995.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000125826 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000027466 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: RBCK1 RanBP-type and C3HC4-type zinc finger containing 1".

[6] Wang K, Kim C, Bradfield J, Guo Y, Toskala E, Otieno FG, Hou C, Thomas K, Cardinale C, Lyon GJ, Golhar R, Hakonarson H (2013). "Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement". Genome Medicine. 5 (7): 67. doi:10.1186/gm471. PMC 3971341. PMID 23889995.

[7] Nilsson J, Schoser B, Laforet P, Kalev O, Lindberg C, Romero NB, Dávila López M, Akman HO, Wahbi K, Iglseder S, Eggers C, Engel AG, Dimauro S, Oldfors A (Dec 2013). "Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1". Annals of Neurology. 74 (6): 914–919. doi:10.1002/ana.23963. PMID 23798481. S2CID 205344695.

RBCK1

Clinical significance

References

Further reading