• Gene id: 23025

Gene Summary

• Gene Symbol: UNC13A   Gene   UCSC   Ensembl
• Aliases: Munc13-1
• Gene name: unc-13 homolog A
• Alternate names: protein unc-13 homolog A,
• Gene location: 19p13.11 (17688343: 17601327)     Exons: 44     NC_000019.10
• Gene summary(Entrez): This gene encodes a member of the UNC13 family. UNC13 proteins bind to phorbol esters and diacylglycerol and play important roles in neurotransmitter release at synapses. Single nucleotide polymorphisms in this gene may be associated with sporadic amyotro
• OMIM: 612258

Protein Summary

• Protein general information: Q9UPW8  
  • Name: Protein unc 13 homolog A (Munc13 1)
  • Length: 1703  
  • Mass: 193014
  • Tissue specificity: Expressed in pancreatic islet cells (PubMed
• Sequence:

  MSLLCVGVKKAKFDGAQEKFNTYVTLKVQNVKSTTIAVRGSQPSWEQDFMFEINRLDLGLTVEVWNKGLIWDTMV
  GTVWIPLRTIRQSNEEGPGEWLTLDSQVIMADSEICGTKDPTFHRILLDTRFELPLDIPEEEARYWAKKLEQLNA
  MRDQDEYSFQDEQDKPLPVPSNQCCNWNYFGWGEQHNDDPDSAVDDRDSDYRSETSNSIPPPYYTTSQPNASVHQ
  YSVRPPPLGSRESYSDSMHSYEEFSEPQALSPTGSSRYASSGELSQGSSQLSEDFDPDEHSLQGSDMEDERDRDS
  YHSCHSSVSYHKDSPRWDQDEEELEEDLEDFLEEEELPEDEEELEEEEEEVPDDLGSYAQREDVAVAEPKDFKRI
  SLPPAAPGKEDKAPVAPTEAPDMAKVAPKPATPDKVPAAEQIPEAEPPKDEESFRPREDEEGQEGQDSMSRAKAN
  WLRAFNKVRMQLQEARGEGEMSKSLWFKGGPGGGLIIIDSMPDIRKRKPIPLVSDLAMSLVQSRKAGITSALASS
  TLNNEELKNHVYKKTLQALIYPISCTTPHNFEVWTATTPTYCYECEGLLWGIARQGMRCTECGVKCHEKCQDLLN
  ADCLQRAAEKSSKHGAEDRTQNIIMVLKDRMKIRERNKPEIFELIQEIFAVTKTAHTQQMKAVKQSVLDGTSKWS
  AKISITVVCAQGLQAKDKTGSSDPYVTVQVGKTKKRTKTIYGNLNPVWEENFHFECHNSSDRIKVRVWDEDDDIK
  SRVKQRFKRESDDFLGQTIIEVRTLSGEMDVWYNLDKRTDKSAVSGAIRLHISVEIKGEEKVAPYHVQYTCLHEN
  LFHFVTDVQNNGVVKIPDAKGDDAWKVYYDETAQEIVDEFAMRYGVESIYQAMTHFACLSSKYMCPGVPAVMSTL
  LANINAYYAHTTASTNVSASDRFAASNFGKERFVKLLDQLHNSLRIDLSMYRNNFPASSPERLQDLKSTVDLLTS
  ITFFRMKVQELQSPPRASQVVKDCVKACLNSTYEYIFNNCHELYSREYQTDPAKKGEVLPEEQGPSIKNLDFWSK
  LITLIVSIIEEDKNSYTPCLNQFPQELNVGKISAEVMWNLFAQDMKYAMEEHDKHRLCKSADYMNLHFKVKWLYN
  EYVTELPAFKDRVPEYPAWFEPFVIQWLDENEEVSRDFLHGALERDKKDGFQQTSEHALFSCSVVDVFSQLNQSF
  EIIKKLECPDPQIVGHYMRRFAKTISNVLLQYADIISKDFASYCSKEKEKVPCILMNNTQQLRVQLEKMFEAMGG
  KELDAEASDILKELQVKLNNVLDELSRVFATSFQPHIEECVKQMGDILSQVKGTGNVPASACSSVAQDADNVLQP
  IMDLLDSNLTLFAKICEKTVLKRVLKELWKLVMNTMEKTIVLPPLTDQTMIGNLLRKHGKGLEKGRVKLPSHSDG
  TQMIFNAAKELGQLSKLKDHMVREEAKSLTPKQCAVVELALDTIKQYFHAGGVGLKKTFLEKSPDLQSLRYALSL
  YTQATDLLIKTFVQTQSAQGLGVEDPVGEVSVHVELFTHPGTGEHKVTVKVVAANDLKWQTSGIFRPFIEVNIIG
  PQLSDKKRKFATKSKNNSWAPKYNESFQFTLSADAGPECYELQVCVKDYCFAREDRTVGLAVLQLRELAQRGSAA
  CWLPLGRRIHMDDTGLTVLRILSQRSNDEVAKEFVKLKSDTRSAEEGGAAPAP

• Structural information:
  • Protein Domains: (1..9-)
    (/note="C2-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (659..78-)
    (/note="C2-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (1093..123-)
    (/note="MHD1-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00587-)
    (-)
  • Interpro: IPR000008  IPR035892  IPR010439  IPR014770  IPR014772   IPR019558  IPR002219  IPR027080  IPR037302  IPR027082  
  • Prosite: PS50004 PS51258 PS51259 PS00479 PS50081
  • CDD: cd00029 cd04027
  • STRING: ENSP00000429562
• Other Databases: GeneCards:  UNC13A  Malacards:  UNC13A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017075	syntaxin-1 binding	ISS	molecular function
GO:0005516	calmodulin binding	ISS	molecular function
GO:0007269	neurotransmitter secretion	ISS	biological process
GO:0042734	presynaptic membrane	ISS	cellular component
GO:0043005	neuron projection	ISS	cellular component
GO:0048786	presynaptic active zone	TAS	cellular component
GO:0051966	regulation of synaptic transmission, glutamatergic	TAS	biological process
GO:0098831	presynaptic active zone cytoplasmic component	IBA	cellular component
GO:0043195	terminal bouton	IBA	cellular component
GO:0042734	presynaptic membrane	IBA	cellular component
GO:0035249	synaptic transmission, glutamatergic	IBA	biological process
GO:0017075	syntaxin-1 binding	IBA	molecular function
GO:0016188	synaptic vesicle maturation	IBA	biological process
GO:0016082	synaptic vesicle priming	IBA	biological process
GO:0007528	neuromuscular junction development	IBA	biological process
GO:0005516	calmodulin binding	IBA	molecular function
GO:0099525	presynaptic dense core vesicle exocytosis	IBA	biological process
GO:0061789	dense core granule priming	IBA	biological process
GO:0048786	presynaptic active zone	IBA	cellular component
GO:0031594	neuromuscular junction	IBA	cellular component
GO:0030672	synaptic vesicle membrane	IBA	cellular component
GO:0016081	synaptic vesicle docking	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0099011	neuronal dense core vesicle exocytosis	ISS	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0007268	chemical synaptic transmission	IEA	biological process
GO:0016082	synaptic vesicle priming	IEA	biological process
GO:0016188	synaptic vesicle maturation	IEA	biological process
GO:0035249	synaptic transmission, glutamatergic	IEA	biological process
GO:0005543	phospholipid binding	IEA	molecular function
GO:0019992	diacylglycerol binding	IEA	molecular function
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006887	exocytosis	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:1902991	regulation of amyloid precursor protein catabolic process	IEA	biological process
GO:1900451	positive regulation of glutamate receptor signaling pathway	IEA	biological process
GO:0099525	presynaptic dense core vesicle exocytosis	IEA	biological process
GO:0098793	presynapse	IEA	cellular component
GO:0060384	innervation	IEA	biological process
GO:0048786	presynaptic active zone	IEA	cellular component
GO:0048172	regulation of short-term neuronal synaptic plasticity	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0044305	calyx of Held	IEA	cellular component
GO:0031594	neuromuscular junction	IEA	cellular component
GO:0019992	diacylglycerol binding	IEA	molecular function
GO:0016081	synaptic vesicle docking	IEA	biological process
GO:0099011	neuronal dense core vesicle exocytosis	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0050435	amyloid-beta metabolic process	IEA	biological process
GO:0035249	synaptic transmission, glutamatergic	IEA	biological process
GO:0031915	positive regulation of synaptic plasticity	IEA	biological process
GO:0030424	axon	IEA	cellular component
GO:0016188	synaptic vesicle maturation	IEA	biological process
GO:0016082	synaptic vesicle priming	IEA	biological process
GO:0016079	synaptic vesicle exocytosis	IEA	biological process
GO:0007528	neuromuscular junction development	IEA	biological process
GO:0001956	positive regulation of neurotransmitter secretion	IEA	biological process
GO:0042734	presynaptic membrane	IEA	cellular component
GO:0048786	presynaptic active zone	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:1903861	positive regulation of dendrite extension	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04721	Synaptic vesicle cycle

Diseases

Associated diseases	References
Amyotrophic lateral sclerosis	PMID:19734901
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq