UNC13B

UNC13B
Identifiers
Aliases	UNC13B , MUNC13, UNC13, Unc13h2, unc-13 homolog B (C. elegans), unc-13 homolog B, munc13-2
External IDs	OMIM: 605836 MGI: 1342278 HomoloGene: 31376 GeneCards: UNC13B
Gene location (Human) Chr. Chromosome 9 (human) [1] Band 9p13.3 Start 35,161,992 bp [1] End 35,405,338 bp [1]
Gene location (Mouse) Chr. Chromosome 4 (mouse) [2] Band 4|4 A5 Start 43,058,953 bp [2] End 43,264,871 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lung pancreatic ductal cell lower lobe of lung retinal pigment epithelium sperm upper lobe of lung upper lobe of left lung palpebral conjunctiva seminal vesicula epithelium of esophagus Top expressed in submandibular gland lacrimal gland saccule pineal gland secondary oocyte parotid gland epithelium of stomach stria vascularis olfactory epithelium atrium More reference expression data BioGPS n/a
Gene ontology Molecular function metal ion binding protein binding calmodulin binding diacylglycerol binding GTP-dependent protein binding calcium ion binding phospholipid binding syntaxin-1 binding Cellular component cytosol neuromuscular junction plasma membrane synapse cell junction cytoplasm Golgi apparatus membrane early phagosome terminal bouton calyx of Held presynaptic active zone ribbon synapse presynapse hippocampal mossy fiber to CA3 synapse glutamatergic synapse synaptic vesicle membrane presynaptic membrane presynaptic active zone cytoplasmic component Biological process exocytosis intracellular signal transduction synaptic vesicle docking positive regulation of synaptic vesicle priming synaptic transmission, glutamatergic regulation of short-term neuronal synaptic plasticity positive regulation of inhibitory postsynaptic potential neuromuscular junction development synaptic vesicle priming innervation chemical synaptic transmission synaptic vesicle exocytosis negative regulation of synaptic plasticity positive regulation of apoptotic process positive regulation of protein secretion cellular response to glucose stimulus phagosome maturation positive regulation of defense response to bacterium presynaptic dense core vesicle exocytosis synaptic vesicle maturation dense core granule priming neurotransmitter secretion glutamate secretion acrosomal vesicle exocytosis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10497 22249 Ensembl ENSG00000198722 ENSMUSG00000028456 UniProt O14795 Q9Z1N9 RefSeq (mRNA) NM_006377 NM_001330653 NM_001371186 NM_001371187 NM_001371188 NM_001371189 NM_001387551 NM_001387553 NM_001387554 NM_001387555 NM_001081413 NM_021468 NM_001310758 RefSeq (protein) NP_001317582 NP_006368 NP_001358115 NP_001358116 NP_001358117 NP_001358118 NP_001074882 NP_001297687 NP_067443 NP_001371035 Location (UCSC) Chr 9: 35.16 – 35.41 Mb Chr 4: 43.06 – 43.26 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Protein unc-13 homolog B is a protein that in humans is encoded by the UNC13B gene. ^{[5] [6]}

Function

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. ^[6]

Interactions

UNC13B has been shown to interact with:

• DOC2A, ^{[7] [8]}
• RIMS1, ^{[9] [10]}
• SPTBN2, ^[11]
• STX1A, ^[12] and
• STX1B. ^[12]

References

1. GRCh38: Ensembl release 89: ENSG00000198722 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000028456 - 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.
5. Song Y, Ailenberg M, Silverman M (August 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.
6. "Entrez Gene: UNC13B unc-13 homolog B (C. elegans)".
7. Orita S, Naito A, Sakaguchi G, Maeda M, Igarashi H, Sasaki T, Takai Y (June 1997). "Physical and functional interactions of Doc2 and Munc13 in Ca2+-dependent exocytotic machinery". J. Biol. Chem. 272 (26): 16081–4. doi: 10.1074/jbc.272.26.16081 . PMID   9195900.
8. Mochida S, Orita S, Sakaguchi G, Sasaki T, Takai Y (September 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. Bibcode:1998PNAS...9511418M. doi: 10.1073/pnas.95.19.11418 . PMC   21657 . PMID   9736751.
9. Betz A, Thakur P, Junge HJ, Ashery U, Rhee JS, Scheuss V, Rosenmund C, Rettig J, Brose N (April 2001). "Functional interaction of the active zone proteins Munc13-1 and RIM1 in synaptic vesicle priming". Neuron. 30 (1): 183–96. doi:10.1016/s0896-6273(01)00272-0. hdl: 11858/00-001M-0000-0012-F596-C . PMID   11343654. S2CID   155875.
10. Ohtsuka T, Takao-Rikitsu E, Inoue E, Inoue M, Takeuchi M, Matsubara K, Deguchi-Tawarada M, Satoh K, Morimoto K, Nakanishi H, Takai Y (August 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. PMC   2173811 . PMID   12163476.
11. Sakaguchi G, Orita S, Naito A, Maeda M, Igarashi H, Sasaki T, Takai Y (July 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.
12. Betz A, Okamoto M, Benseler F, Brose N (January 1997). "Direct interaction of the rat unc-13 homologue Munc13-1 with the N terminus of syntaxin". J. Biol. Chem. 272 (4): 2520–6. doi: 10.1074/jbc.272.4.2520 . PMID   8999968.

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. doi: 10.1074/jbc.272.4.2520 . PMID   8999968.
• Orita S, Naito A, Sakaguchi G, Maeda M, Igarashi H, Sasaki T, Takai Y (1997). "Physical and functional interactions of Doc2 and Munc13 in Ca2+-dependent exocytotic machinery". J. Biol. Chem. 272 (26): 16081–4. doi: 10.1074/jbc.272.26.16081 . PMID   9195900.
• Sakaguchi G, Orita S, Naito A, Maeda M, Igarashi H, Sasaki T, Takai Y (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, Sasaki T, Takai Y (1998). "Role of the Doc2α–Munc13–1 interaction in the neurotransmitter release process". Proc. Natl. Acad. Sci. U.S.A. 95 (19): 11418–22. Bibcode:1998PNAS...9511418M. doi: 10.1073/pnas.95.19.11418 . PMC   21657 . 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. doi:10.1091/mbc.10.5.1609. PMC   30485 . PMID   10233166.
• Duncan RR, Betz A, Shipston MJ, Brose N, Chow RH (1999). "Transient, phorbol ester-induced DOC2-Munc13 interactions in vivo". J. Biol. Chem. 274 (39): 27347–50. doi: 10.1074/jbc.274.39.27347 . PMID   10488064.
• Betz A, Thakur P, Junge HJ, Ashery U, Rhee JS, Scheuss V, Rosenmund C, Rettig J, Brose N (2001). "Functional interaction of the active zone proteins Munc13-1 and RIM1 in synaptic vesicle priming". Neuron. 30 (1): 183–96. doi:10.1016/S0896-6273(01)00272-0. hdl: 11858/00-001M-0000-0012-F596-C . PMID   11343654. S2CID   155875.
• Schoch S, Castillo PE, Jo T, Mukherjee K, Geppert M, Wang Y, Schmitz F, Malenka RC, Südhof TC (2002). "RIM1alpha forms a protein scaffold for regulating neurotransmitter release at the active zone". Nature. 415 (6869): 321–6. Bibcode:2002Natur.415..321S. doi:10.1038/415321a. PMID   11797009. S2CID   4424128.
• Ohtsuka T, Takao-Rikitsu E, Inoue E, Inoue M, Takeuchi M, Matsubara K, Deguchi-Tawarada M, Satoh K, Morimoto K, Nakanishi H, Takai Y (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. PMC   2173811 . PMID   12163476.
• Sheu L, Pasyk EA, Ji J, Huang X, Gao X, Varoqueaux F, Brose N, Gaisano HY (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, Burgoyne RD, Regazzi R (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, Sakakibara Y, Chiba J, Mizushima-Sugano J, Nakai K, Sugano S (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. PMC   515316 . PMID   15342556.
• Yamamoto K, Ishii E, Sako M, Ohga S, Furuno K, Suzuki N, Ueda I, Imayoshi M, Yamamoto S, Morimoto A, Takada H, Hara T, Imashuku S, Sasazuki T, Yasukawa M (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. PMC   1735600 . 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. S2CID   41859546.