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; OMA:UNC13B - orthologs
Gene location (Human) Chr. Chromosome 9 (human) Band 9p13.3 Start 35,161,992 bp End 35,405,338 bp
Gene location (Mouse) Chr. Chromosome 4 (mouse) Band 4|4 A5 Start 43,058,953 bp End 43,264,871 bp
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 neural layer of retina lacrimal gland saccule epithelium of lens pineal gland secondary oocyte lobe of prostate parotid gland zygote 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
Wikidata
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Protein unc-13 homolog B is a protein that in humans is encoded by the UNC13B gene.

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.

Interactions

UNC13B has been shown to interact with:

• DOC2A,
• RIMS1,
• SPTBN2,
• STX1A, and
• STX1B.

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.