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Aliases for UNC13A Gene

Aliases for UNC13A Gene

  • Unc-13 Homolog A (C. Elegans) 2 3 5
  • Munc13-1 3 4
  • KIAA1032 4

External Ids for UNC13A Gene

Previous GeneCards Identifiers for UNC13A Gene

  • GC19M017575
  • GC19M017712
  • GC19M017276

Summaries for UNC13A Gene

Entrez Gene Summary for UNC13A 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 amyotrophic lateral sclerosis. [provided by RefSeq, Feb 2012]

GeneCards Summary for UNC13A Gene

UNC13A (Unc-13 Homolog A (C. Elegans)) is a Protein Coding gene. Diseases associated with UNC13A include Amyotrophic Lateral Sclerosis 1 and Ftdals1. Among its related pathways are Synaptic vesicle cycle. GO annotations related to this gene include protein N-terminus binding and diacylglycerol binding. An important paralog of this gene is UNC13B.

UniProtKB/Swiss-Prot for UNC13A Gene

  • 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-dependent refilling of readily releasable vesicle pool (RRP). Essential for synaptic vesicle maturation in most excitatory/glutamatergic but not inhibitory/GABA-mediated synapses (By similarity). Also involved in secretory granule priming in insulin secretion (By similarity). Interacts with FBXO45 (via SRY domain); leading to the degradation of UNC13A by the proteasome (By similarity). Plays a role in dendrite formation by melanocytes (PubMed:23999003).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UNC13A Gene

Genomics for UNC13A Gene

Regulatory Elements for UNC13A Gene

Enhancers for UNC13A Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around UNC13A on UCSC Golden Path with GeneCards custom track

Genomic Location for UNC13A Gene

Chromosome:
19
Start:
17,601,328 bp from pter
End:
17,688,365 bp from pter
Size:
87,038 bases
Orientation:
Minus strand

Genomic View for UNC13A Gene

Genes around UNC13A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UNC13A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UNC13A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UNC13A Gene

Proteins for UNC13A Gene

  • Protein details for UNC13A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UPW8-UN13A_HUMAN
    Recommended name:
    Protein unc-13 homolog A
    Protein Accession:
    Q9UPW8
    Secondary Accessions:
    • E5RHY9

    Protein attributes for UNC13A Gene

    Size:
    1703 amino acids
    Molecular mass:
    193014 Da
    Quaternary structure:
    • Interacts with the N-termini of STX1A and/or STX1B1 and DOC2A. Interacts with BSN. Interacts with RIMS1 which recruits UNC13A to the active zone. Forms homodimers via its first C2 domain. Also interacts via this domain with the zinc finger domain of RIMS2. Part of a complex consisting of ERC2, RIMS1 and UNC13A. Also part of a complex consisting of UNC13A, RIMS2 and RAB3A (By similarity).

neXtProt entry for UNC13A Gene

Proteomics data for UNC13A Gene at MOPED

Post-translational modifications for UNC13A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for UNC13A Gene

No data available for DME Specific Peptides for UNC13A Gene

Domains & Families for UNC13A Gene

Gene Families for UNC13A Gene

Suggested Antigen Peptide Sequences for UNC13A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UPW8

UniProtKB/Swiss-Prot:

UN13A_HUMAN :
  • The C2 domains are not involved in calcium-dependent phospholipid binding.
  • Belongs to the unc-13 family.
  • Contains 1 phorbol-ester/DAG-type zinc finger.
Domain:
  • The C2 domains are not involved in calcium-dependent phospholipid binding.
  • The C-terminal region containing both MHD domains and the third C2 domain is required for synaptic vesicle priming activity.
  • Contains 3 C2 domains.
  • Contains 1 MHD1 (MUNC13 homology domain 1) domain.
  • Contains 1 MHD2 (MUNC13 homology domain 2) domain.
Family:
  • Belongs to the unc-13 family.
Similarity:
  • Contains 1 phorbol-ester/DAG-type zinc finger.
genes like me logo Genes that share domains with UNC13A: view

Function for UNC13A Gene

Molecular function for UNC13A Gene

UniProtKB/Swiss-Prot 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-dependent refilling of readily releasable vesicle pool (RRP). Essential for synaptic vesicle maturation in most excitatory/glutamatergic but not inhibitory/GABA-mediated synapses (By similarity). Also involved in secretory granule priming in insulin secretion (By similarity). Interacts with FBXO45 (via SRY domain); leading to the degradation of UNC13A by the proteasome (By similarity). Plays a role in dendrite formation by melanocytes (PubMed:23999003).

Gene Ontology (GO) - Molecular Function for UNC13A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019992 diacylglycerol binding IEA --
GO:0047485 protein N-terminus binding ISS --
genes like me logo Genes that share ontologies with UNC13A: view
genes like me logo Genes that share phenotypes with UNC13A: view

Human Phenotype Ontology for UNC13A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for UNC13A Gene

MGI Knock Outs for UNC13A:

Animal Model Products

  • Taconic Biosciences Mouse Models for UNC13A

miRNA for UNC13A Gene

miRTarBase miRNAs that target UNC13A

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for UNC13A Gene

Localization for UNC13A Gene

Subcellular locations from UniProtKB/Swiss-Prot for UNC13A Gene

Cytoplasm. Cell membrane; Peripheral membrane protein. Cell junction, synapse, presynaptic cell membrane; Peripheral membrane protein. Note=Localized to the active zone of presynaptic density. Translocated to the plasma membrane as response to phorbol ester binding (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for UNC13A Gene COMPARTMENTS Subcellular localization image for UNC13A gene
Compartment Confidence
plasma membrane 4
cytosol 2
nucleus 2
cytoskeleton 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for UNC13A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0042734 presynaptic membrane ISS --
GO:0048786 presynaptic active zone TAS 15217342
genes like me logo Genes that share ontologies with UNC13A: view

Pathways & Interactions for UNC13A Gene

SuperPathways for UNC13A Gene

genes like me logo Genes that share pathways with UNC13A: view

Pathways by source for UNC13A Gene

1 BioSystems pathway for UNC13A Gene
1 KEGG pathway for UNC13A Gene

Gene Ontology (GO) - Biological Process for UNC13A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007268 synaptic transmission IEA --
GO:0007528 neuromuscular junction development IEA --
GO:0016081 synaptic vesicle docking IEA --
GO:0035556 intracellular signal transduction IEA --
GO:0048172 regulation of short-term neuronal synaptic plasticity IEA --
genes like me logo Genes that share ontologies with UNC13A: view

No data available for SIGNOR curated interactions for UNC13A Gene

Drugs & Compounds for UNC13A Gene

(1) Drugs for UNC13A Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0

(5) Additional Compounds for UNC13A Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Diglycerides Group A
  • 1,2-Dimyristoyl-rac-glycerol
  • DAG(14:0/14:0)
  • DAG(28:0)
  • DG(14:0/14:0)
  • DG(28:0)
Diglycerides Group B
  • 1-Palmitoleoyl-2-arachidonyl-sn-glycerol
  • DAG(16:1/20:0)
  • DAG(16:1n7/20:0)
  • DAG(16:1w7/20:0)
  • DAG(36:1)
Diglycerides Group C
  • 1-Myristoyl-3-stearoyl-sn-glycerol
  • 1-Tetradecanoyl-3-octadecanoyl-sn-glycerol
  • DAG(14:0/0:0/18:0)
  • DAG(32:0)
  • DG(32:0)
Diglycerides Group D
  • 1,2-Didocosahexaenoyl-rac-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6n3/22:6n3)
  • DAG(22:6w3/22:6w3)
  • DAG(44:12)
genes like me logo Genes that share compounds with UNC13A: view

Transcripts for UNC13A Gene

Unigene Clusters for UNC13A Gene

Unc-13 homolog A (C. elegans):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for UNC13A Gene

No ASD Table

Relevant External Links for UNC13A Gene

GeneLoc Exon Structure for
UNC13A
ECgene alternative splicing isoforms for
UNC13A

Expression for UNC13A Gene

mRNA expression in normal human tissues for UNC13A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for UNC13A Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x6.4), Brain - Cortex (x6.4), Brain - Anterior cingulate cortex (BA24) (x5.3), Pituitary (x4.9), Brain - Cerebellar Hemisphere (x4.9), and Brain - Cerebellum (x4.6).

Protein differential expression in normal tissues from HIPED for UNC13A Gene

This gene is overexpressed in Frontal cortex (57.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for UNC13A Gene



SOURCE GeneReport for Unigene cluster for UNC13A Gene Hs.164502

mRNA Expression by UniProt/SwissProt for UNC13A Gene

Q9UPW8-UN13A_HUMAN
Tissue specificity: Expressed in pancreatic islet cells (PubMed:12871971). Expressed in melanocytes (PubMed:23999003).
genes like me logo Genes that share expression patterns with UNC13A: view

Protein tissue co-expression partners for UNC13A Gene

- Elite partner

Primer Products

Orthologs for UNC13A Gene

This gene was present in the common ancestor of animals.

Orthologs for UNC13A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia UNC13A 35
  • 91.43 (n)
  • 97.06 (a)
UNC13A 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UNC13A 35
  • 90.21 (n)
  • 94.11 (a)
-- 36
  • 94 (a)
OneToMany
-- 36
  • 96 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Unc13a 35
  • 88.07 (n)
  • 95.95 (a)
Unc13a 16
Unc13a 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Unc13a 35
  • 87.68 (n)
  • 95.89 (a)
oppossum
(Monodelphis domestica)
Mammalia UNC13A 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UNC13A 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia UNC13A 36
  • 93 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC430487 35
  • 85.32 (n)
  • 94.85 (a)
UNC13A 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UNC13A 36
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492289 35
  • 76.35 (n)
  • 88.9 (a)
Str.17572 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.29718 35
zebrafish
(Danio rerio)
Actinopterygii si:dkey-110c1.7 35
  • 76.47 (n)
  • 87.1 (a)
CABZ01117756.1 36
  • 97 (a)
OneToMany
UNC13A (1 of 5) 36
  • 80 (a)
OneToMany
UNC13A (2 of 5) 36
  • 91 (a)
OneToMany
UNC13A (3 of 5) 36
  • 92 (a)
OneToMany
UNC13A (5 of 5) 36
  • 80 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta unc-13 35
  • 62.36 (n)
  • 68.67 (a)
unc-13 36
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-13 35
  • 56.07 (n)
  • 57.93 (a)
unc-13 36
  • 40 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 61 (a)
OneToMany
Species with no ortholog for UNC13A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for UNC13A Gene

ENSEMBL:
Gene Tree for UNC13A (if available)
TreeFam:
Gene Tree for UNC13A (if available)

Paralogs for UNC13A Gene

Paralogs for UNC13A Gene

(3) SIMAP similar genes for UNC13A Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with UNC13A: view

Variants for UNC13A Gene

Sequence variations from dbSNP and Humsavar for UNC13A Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs34752754 - 17,656,091(+) CTGGG(C/T)ATAGC reference, missense
rs7256497 -- 17,602,594(+) GAAAG(C/T)CCTGC utr-variant-3-prime
rs7257166 -- 17,677,995(+) GCGAG(C/T)TGAAG intron-variant
rs7257957 -- 17,679,225(+) taaaa(A/C)cccat intron-variant
rs7258768 -- 17,673,554(+) cgggc(A/T)tggtg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for UNC13A Gene

Variant ID Type Subtype PubMed ID
nsv138197 CNV Loss 16902084
esv999988 CNV Deletion 20482838
esv2718280 CNV Deletion 23290073
esv269588 CNV Insertion 20981092
nsv138145 CNV Loss 16902084
dgv50n68 CNV Loss 17160897
nsv911208 CNV Loss 21882294
nsv911209 CNV Loss 21882294

Variation tolerance for UNC13A Gene

Residual Variation Intolerance Score: 1.98% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.46; 82.04% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UNC13A Gene

Human Gene Mutation Database (HGMD)
UNC13A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UNC13A Gene

Disorders for UNC13A Gene

MalaCards: The human disease database

(2) MalaCards diseases for UNC13A Gene - From: Orphanet and DISEASES

Disorder Aliases PubMed IDs
amyotrophic lateral sclerosis 1
  • amyotrophic lateral sclerosis
ftdals1
  • frontotemporal dementia and/or amyotrophic lateral sclerosis 1
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for UNC13A

Genetic Association Database (GAD)
UNC13A
Human Genome Epidemiology (HuGE) Navigator
UNC13A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UNC13A
genes like me logo Genes that share disorders with UNC13A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UNC13A Gene

Publications for UNC13A Gene

  1. Regulation of insulin exocytosis by Munc13-1. (PMID: 12871971) Sheu L. … Gaisano H.Y. (J. Biol. Chem. 2003) 3 4 23 67
  2. Fbxo45, a novel ubiquitin ligase, regulates synaptic activity. (PMID: 19996097) Tada H. … Okano H. (J. Biol. Chem. 2010) 3 23
  3. Physical and functional interaction of the active zone proteins, CAST, RIM1, and Bassoon, in neurotransmitter release. (PMID: 14734538) Takao-Rikitsu E. … Takai Y. (J. Cell Biol. 2004) 3 23
  4. Munc13-1-mediated vesicle priming contributes to secretory amyloid precursor protein processing. (PMID: 15123597) Rossner S. … Brose N. (J. Biol. Chem. 2004) 3 23
  5. Reduced expression of Munc13-1 in human and porcine diabetic peripheral nerve. (PMID: 23830992) Juranek J.K. … Brannagan T.H. (Acta Histochem. 2014) 3

Products for UNC13A Gene

Sources for UNC13A Gene

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