Gene Gene information from NCBI Gene database.
Entrez ID 23025
Gene name Unc-13 homolog A
Gene symbol UNC13A
Synonyms (NCBI Gene)
Munc13-1
Chromosome 19
Chromosome location 19p13.11
Summary 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.
1
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.
820
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IEA
GO:0005516 Function Calmodulin binding IBA
GO:0005516 Function Calmodulin binding ISS
GO:0005543 Function Phospholipid binding IEA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609894 23150 ENSG00000130477
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
25
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Amyotrophic lateral sclerosis type 1 Likely pathogenic rs2513075471 RCV002290338
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar ataxia Likely pathogenic rs2076985517 RCV003128383
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Delayed speech and language development Likely pathogenic rs2076985517 RCV003128383
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental regression Likely pathogenic rs2076985517 RCV003128383
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic lateral sclerosis Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity ClinVar
CTD, Disgenet, GWAS catalog, Orphanet
CTD, Disgenet, GWAS catalog, Orphanet
CTD, Disgenet, GWAS catalog, Orphanet
CTD, Disgenet, GWAS catalog, Orphanet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
AMYOTROPHIC LATERAL SCLEROSIS 1 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 38175301 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis GWASDB_DG 19734901, 20801717, 22959728, 24234648
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis GWASCAT_DG 19734901, 22959728, 24931836, 27455348, 29566793
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis ORPHANET_DG 19734901, 24931836
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis CTD_human_DG 19734901
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 20942785, 22118904, 22921269, 24493373, 24931836, 26162714, 27584932, 29630712, 30368160, 31173847, 31201598
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 22921269, 22959728, 27584932, 29630712, 30368160, 32627229, 35197626, 35197628, 35567447, 35590152, 36471413, 36930682, 37202167, 37887320, 38175301
View all (2 more)
Associate
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis Orphanet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis HPO_DG
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
AMYOTROPHIC LATERAL SCLEROSIS 1 Lateral Sclerosis GWASCAT_DG 28931804
★★☆☆☆
Found in Text Mining + Unknown/Other Associations