UNC13B

From Wikipedia, the free encyclopedia


Unc-13 homolog B (C. elegans)
Identifiers
Symbol(s) UNC13B; MGC133279; MGC133280; MUNC13; UNC13; Unc13h2; hmunc13
External IDs OMIM: 605836 MGI1342278 HomoloGene31376
Orthologs
Human Mouse
Entrez 10497 22249
Ensembl ENSG00000198722 ENSMUSG00000028456
Uniprot O14795 Q3TTZ7
Refseq NM_006377 (mRNA)
NP_006368 (protein)
XM_973550 (mRNA)
XP_978644 (protein)
Location Chr 9: 35.15 - 35.4 Mb Chr 4: 43.11 - 43.29 Mb
Pubmed search [1] [2]

Unc-13 homolog B (C. elegans), also known as UNC13B, is a human gene.[1]

This gene is expressed in the kidney cortical epithelial cells and is upregulated by hyperglycemia. The encoded protein shares a high level of similarity to the rat homolog, and contains 3 C2 domains and a diacylglycerol-binding C1 domain. Hyperglycemia increases the levels of diacylglycerol, which has been shown to induce apoptosis in cells transfected with this gene and thus contribute to the renal cell complications of hyperglycemia. Studies in other species also indicate a role for this protein in the priming step of synaptic vesicle exocytosis.[1]

[edit] References

[edit] Further reading

  • Betz A, Okamoto M, Benseler F, Brose N (1997). "Direct interaction of the rat unc-13 homologue Munc13-1 with the N terminus of syntaxin.". J. Biol. Chem. 272 (4): 2520-6. PMID 8999968. 
  • Orita S, Naito A, Sakaguchi G, et al. (1997). "Physical and functional interactions of Doc2 and Munc13 in Ca2+-dependent exocytotic machinery.". J. Biol. Chem. 272 (26): 16081-4. PMID 9195900. 
  • Song Y, Ailenberg M, Silverman M (1998). "Cloning of a novel gene in the human kidney homologous to rat munc13s: its potential role in diabetic nephropathy.". Kidney Int. 53 (6): 1689-95. doi:10.1046/j.1523-1755.1998.00942.x. PMID 9607201. 
  • Sakaguchi G, Orita S, Naito A, et al. (1998). "A novel brain-specific isoform of beta spectrin: isolation and its interaction with Munc13.". Biochem. Biophys. Res. Commun. 248 (3): 846-51. doi:10.1006/bbrc.1998.9067. PMID 9704016. 
  • Mochida S, Orita S, Sakaguchi G, et al. (1998). "Role of the Doc2 alpha-Munc13-1 interaction in the neurotransmitter release process.". Proc. Natl. Acad. Sci. U.S.A. 95 (19): 11418-22. PMID 9736751. 
  • Song Y, Ailenberg M, Silverman M (1999). "Human munc13 is a diacylglycerol receptor that induces apoptosis and may contribute to renal cell injury in hyperglycemia.". Mol. Biol. Cell 10 (5): 1609-19. PMID 10233166. 
  • Duncan RR, Betz A, Shipston MJ, et al. (1999). "Transient, phorbol ester-induced DOC2-Munc13 interactions in vivo.". J. Biol. Chem. 274 (39): 27347-50. PMID 10488064. 
  • Betz A, Thakur P, Junge HJ, et al. (2001). "Functional interaction of the active zone proteins Munc13-1 and RIM1 in synaptic vesicle priming.". Neuron 30 (1): 183-96. PMID 11343654. 
  • Schoch S, Castillo PE, Jo T, et al. (2002). "RIM1alpha forms a protein scaffold for regulating neurotransmitter release at the active zone.". Nature 415 (6869): 321-6. doi:10.1038/415321a. PMID 11797009. 
  • Ohtsuka T, Takao-Rikitsu E, Inoue E, et al. (2002). "Cast: a novel protein of the cytomatrix at the active zone of synapses that forms a ternary complex with RIM1 and munc13-1.". J. Cell Biol. 158 (3): 577-90. doi:10.1083/jcb.200202083. PMID 12163476. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899-903. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Sheu L, Pasyk EA, Ji J, et al. (2003). "Regulation of insulin exocytosis by Munc13-1.". J. Biol. Chem. 278 (30): 27556-63. doi:10.1074/jbc.M303203200. PMID 12871971. 
  • Cheviet S, Coppola T, Haynes LP, et al. (2004). "The Rab-binding protein Noc2 is associated with insulin-containing secretory granules and is essential for pancreatic beta-cell exocytosis.". Mol. Endocrinol. 18 (1): 117-26. doi:10.1210/me.2003-0300. PMID 14593078. 
  • Suzuki Y, Yamashita R, Shirota M, et al. (2004). "Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.". Genome Res. 14 (9): 1711-8. doi:10.1101/gr.2435604. PMID 15342556. 
  • Yamamoto K, Ishii E, Sako M, et al. (2005). "Identification of novel MUNC13-4 mutations in familial haemophagocytic lymphohistiocytosis and functional analysis of MUNC13-4-deficient cytotoxic T lymphocytes.". J. Med. Genet. 41 (10): 763-7. doi:10.1136/jmg.2004.021121. PMID 15466010. 
  • Speight P, Silverman M (2005). "Diacylglycerol-activated Hmunc13 serves as an effector of the GTPase Rab34.". Traffic 6 (10): 858-65. doi:10.1111/j.1600-0854.2005.00321.x. PMID 16138900.