Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23025
Gene name Gene Name - the full gene name approved by the HGNC.
Unc-13 homolog A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
UNC13A
Synonyms (NCBI Gene) Gene synonyms aliases
Munc13-1
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.11
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1555777710 C>T Likely-pathogenic Intron variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT029920 hsa-miR-26b-5p Microarray 19088304
MIRT725089 hsa-miR-3943 HITS-CLIP 19536157
MIRT725088 hsa-miR-615-3p HITS-CLIP 19536157
MIRT725087 hsa-miR-212-5p HITS-CLIP 19536157
MIRT725086 hsa-miR-1225-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IEA
GO:0005516 Function Calmodulin binding IBA 21873635
GO:0005516 Function Calmodulin binding ISS
GO:0005543 Function Phospholipid binding IEA
GO:0005886 Component Plasma membrane IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609894 23150 ENSG00000130477
Protein
UniProt ID Q9UPW8
Protein name Protein unc-13 homolog A (Munc13-1)
Protein function Plays a role in vesicle maturation during exocytosis as a target of the diacylglycerol second messenger pathway. Involved in neurotransmitter release by acting in synaptic vesicle priming prior to vesicle fusion and participates in the activity-
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00168 C2 2 99 C2 domain Domain
PF00130 C1_1 554 606 Phorbol esters/diacylglycerol binding domain (C1 domain) Domain
PF00168 C2 676 785 C2 domain Domain
PF06292 DUF1041 994 1102 Domain of Unknown Function (DUF1041) Domain
PF10540 Membr_traf_MHD 1346 1511 Munc13 (mammalian uncoordinated) homology domain Domain
PF00168 C2 1545 1655 C2 domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in pancreatic islet cells (PubMed:12871971). Expressed in melanocytes (PubMed:23999003). {ECO:0000269|PubMed:12871971, ECO:0000269|PubMed:23999003}.
Sequence
MSLLCVGVKKAKFDGAQEKFNTYVTLKVQNVKSTTIAVRGSQPSWEQDFMFEINRLDLGL
TVEVWNKGLIWDTMVGTVWIPLRTIRQSNEEGPGEWLTL
DSQVIMADSEICGTKDPTFHR
ILLDTRFELPLDIPEEEARYWAKKLEQLNAMRDQDEYSFQDEQDKPLPVPSNQCCNWNYF
GWGEQHNDDPDSAVDDRDSDYRSETSNSIPPPYYTTSQPNASVHQYSVRPPPLGSRESYS
DSMHSYEEFSEPQALSPTGSSRYASSGELSQGSSQLSEDFDPDEHSLQGSDMEDERDRDS
YHSCHSSVSYHKDSPRWDQDEEELEEDLEDFLEEEELPEDEEELEEEEEEVPDDLGSYAQ
REDVAVAEPKDFKRISLPPAAPGKEDKAPVAPTEAPDMAKVAPKPATPDKVPAAEQIPEA
EPPKDEESFRPREDEEGQEGQDSMSRAKANWLRAFNKVRMQLQEARGEGEMSKSLWFKGG
PGGGLIIIDSMPDIRKRKPIPLVSDLAMSLVQSRKAGITSALASSTLNNEELKNHVYKKT
LQALIYPISCTTPHNFEVWTATTPTYCYECEGLLWGIARQGMRCTECGVKCHEKCQDLLN
ADCLQR
AAEKSSKHGAEDRTQNIIMVLKDRMKIRERNKPEIFELIQEIFAVTKTAHTQQM
KAVKQSVLDGTSKWSAKISITVVCAQGLQAKDKTGSSDPYVTVQVGKTKKRTKTIYGNLN
PVWEENFHFECHNSSDRIKVRVWDEDDDIKSRVKQRFKRESDDFLGQTIIEVRTLSGEMD
VWYNL
DKRTDKSAVSGAIRLHISVEIKGEEKVAPYHVQYTCLHENLFHFVTDVQNNGVVK
IPDAKGDDAWKVYYDETAQEIVDEFAMRYGVESIYQAMTHFACLSSKYMCPGVPAVMSTL
LANINAYYAHTTASTNVSASDRFAASNFGKERFVKLLDQLHNSLRIDLSMYRNNFPASSP
ERLQDLKSTVDLLTSITFFRMKVQELQSPPRASQVVKDCVKACLNSTYEYIFNNCHELYS
REYQTDPAKKGEVLPEEQGPSIKNLDFWSKLITLIVSIIEEDKNSYTPCLNQFPQELNVG
KISAEVMWNLFAQDMKYAMEEH
DKHRLCKSADYMNLHFKVKWLYNEYVTELPAFKDRVPE
YPAWFEPFVIQWLDENEEVSRDFLHGALERDKKDGFQQTSEHALFSCSVVDVFSQLNQSF
EIIKKLECPDPQIVGHYMRRFAKTISNVLLQYADIISKDFASYCSKEKEKVPCILMNNTQ
QLRVQLEKMFEAMGGKELDAEASDILKELQVKLNNVLDELSRVFATSFQPHIEECVKQMG
DILSQVKGTGNVPASACSSVAQDADNVLQPIMDLLDSNLTLFAKICEKTVLKRVLKELWK
LVMNTMEKTIVLPPLTDQTMIGNLLRKHGKGLEKGRVKLPSHSDGTQMIFNAAKELGQLS
KLKDHMVREEAKSLTPKQCAVVELALDTIKQYFHAGGVGLKKTFLEKSPDLQSLRYALSL
YTQATDLLIKT
FVQTQSAQGLGVEDPVGEVSVHVELFTHPGTGEHKVTVKVVAANDLKWQ
TSGIFRPFIEVNIIGPQLSDKKRKFATKSKNNSWAPKYNESFQFTLSADAGPECYELQVC
VKDYCFAREDRTVGLAVLQLRELAQRGSAACWLPL
GRRIHMDDTGLTVLRILSQRSNDEV
AKEFVKLKSDTRSAEEGGAAPAP
Sequence length 1703
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Synaptic vesicle cycle  
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis, Amyotrophic Lateral Sclerosis, Guam Form, AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder), AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE, Amyotrophic lateral sclerosis rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733
View all (171 more)
19734901, 29566793, 24234648, 27455348, 24931836, 22959728, 20801717, 28931804
Lateral sclerosis AMYOTROPHIC LATERAL SCLEROSIS 1, Amyotrophic Lateral Sclerosis, Sporadic rs386134181, rs386134176, rs386134174, rs386134184, rs386134178, rs1693780539, rs1574698048 28931804
Unknown
Disease term Disease name Evidence References Source
Mental depression Depressive disorder ClinVar
Nervous System Disorder congenital nervous system disorder GenCC
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis GWAS
Frontotemporal dementia Frontotemporal dementia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 38175301
Amyotrophic Lateral Sclerosis Associate 22921269, 22959728, 27584932, 29630712, 30368160, 32627229, 35197626, 35197628, 35567447, 35590152, 36471413, 36930682, 37202167, 37887320, 38175301
View all (2 more)
Carcinoma Hepatocellular Associate 26162714
Death Associate 36471413
Frontotemporal Dementia Associate 25239657, 29630712, 30368160, 30739198, 32627229, 35197626, 35197628, 35567447, 35590152, 36930682, 37979250, 38175301
Frontotemporal Lobar Degeneration Associate 30368160
Liver Neoplasms Associate 26162714, 35197628, 37202167, 37887320
Mental Disorders Associate 32627229
Motor Neuron Disease Associate 25239657
Neurodegenerative Diseases Associate 35197628, 38175301