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Aliases for UNC13A Gene

Aliases for UNC13A Gene

  • Unc-13 Homolog A 2 3 5
  • Munc13-1 3 4
  • Unc-13 Homolog A (C. Elegans) 2
  • Protein Unc-13 Homolog A 3
  • 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) is a Protein Coding gene. Diseases associated with UNC13A include Amyotrophic Lateral Sclerosis 1 and Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1. 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).

Additional gene information for UNC13A Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19H018657 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.5 -971.1 -971090 4 PKNOX1 ATF1 RB1 ZNF473 YBX1 BMI1 ZNF48 GLIS2 EGR1 ZNF366 ENSG00000268030 MAU2 KIAA1683 UPF1 SUGP2 NR2C2AP CRTC1 TSSK6 ENSG00000268938 UNC13A
GH19H017764 1.5 Ensembl ENCODE dbSUPER 12.4 -77.5 -77474 3 PKNOX1 FOXA2 ATF1 MLX ARID4B DMAP1 ZNF2 GTF3C2 SLC30A9 GLIS2 MVB12A ENSG00000268030 B3GNT3 UNC13A MAP1S GTPBP3 INSL3 HAUS8 PLVAP ENSG00000268938
GH19H017716 1.2 Ensembl ENCODE 12.6 -29.2 -29182 1 HDGF ATF1 YY1 TCF12 GATA2 ELK1 ATF7 NCOA1 REST ZNF592 UNC13A B3GNT3 MAP1S PIR50741
GH19H017845 1.3 FANTOM5 ENCODE 11.3 -160.5 -160511 6 HDGF PKNOX1 SIN3A ARID4B DMAP1 SLC30A9 GTF3C2 ZNF143 ZNF207 RUNX3 UPF1 ENSG00000268030 FCHO1 JAK3 B3GNT3 INSL3 MVB12A GTPBP3 UNC13A HAUS8
GH19H017775 1.2 Ensembl ENCODE 12.2 -88.0 -87990 1 HDAC1 HDGF PKNOX1 TBL1XR1 RB1 YBX1 BATF THRB RAD21 GATA2 FCHO1 UNC13A RPL18A INSL3 SNORA68 GC19M017755 B3GNT3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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

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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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.
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.
Family:
  • Belongs to the unc-13 family.
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).

Phenotypes From GWAS Catalog for UNC13A Gene

Gene Ontology (GO) - Molecular Function for UNC13A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005516 calmodulin binding ISS --
GO:0017075 syntaxin-1 binding ISS --
GO:0019992 diacylglycerol binding IEA --
GO:0046872 metal ion 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

CRISPR Products

miRNA for UNC13A Gene

miRTarBase miRNAs that target UNC13A

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for UNC13A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UNC13A gene
Compartment Confidence
plasma membrane 4
nucleus 2
cytosol 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:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with UNC13A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for UNC13A Gene

Pathways & Interactions for UNC13A Gene

SuperPathways for UNC13A Gene

SuperPathway Contained pathways
1 Synaptic vesicle cycle
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:0001956 positive regulation of neurotransmitter secretion IEA --
GO:0006887 exocytosis IEA --
GO:0007268 chemical synaptic transmission IEA --
GO:0007269 neurotransmitter secretion ISS --
GO:0007528 neuromuscular junction development 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: Novoseek and HMDB

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-behenoyl-sn-glycerol
  • 1-Tetradecanoyl-3-docosanoyl-sn-glycerol
  • DAG(14:0/0:0/22:0)
  • DAG(36:0)
  • DG(36:0)
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for UNC13A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for UNC13A Gene



Protein tissue co-expression partners for UNC13A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of UNC13A Gene:

UNC13A

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).

Evidence on tissue expression from TISSUES for UNC13A Gene

  • Nervous system(4.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for UNC13A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • epiglottis
  • face
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pharynx
  • skull
  • tongue
  • vocal cord
Thorax:
  • bronchus
  • clavicle
  • esophagus
  • heart
  • lung
  • scapula
  • trachea
Abdomen:
  • biliary tract
  • liver
  • stomach
Limb:
  • arm
  • digit
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • shin
  • shoulder
  • thigh
  • toe
  • upper limb
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with UNC13A: view

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
dog
(Canis familiaris)
Mammalia -- 34
  • 96 (a)
OneToMany
-- 34
  • 94 (a)
OneToMany
UNC13A 33
  • 90.21 (n)
chimpanzee
(Pan troglodytes)
Mammalia UNC13A 34
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia UNC13A 34
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia UNC13A 33 34
  • 91.43 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia UNC13A 34
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Unc13a 33 16 34
  • 88.07 (n)
rat
(Rattus norvegicus)
Mammalia Unc13a 33
  • 87.68 (n)
chicken
(Gallus gallus)
Aves UNC13A 34
  • 89 (a)
OneToOne
LOC430487 33
  • 85.32 (n)
lizard
(Anolis carolinensis)
Reptilia UNC13A 34
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492289 33
  • 76.35 (n)
Str.17572 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.29718 33
zebrafish
(Danio rerio)
Actinopterygii CABZ01117756.1 34
  • 97 (a)
OneToMany
UNC13A (3 of 5) 34
  • 92 (a)
OneToMany
UNC13A (2 of 5) 34
  • 91 (a)
OneToMany
UNC13A (1 of 5) 34
  • 80 (a)
OneToMany
UNC13A (5 of 5) 34
  • 80 (a)
OneToMany
si:dkey-110c1.7 33
  • 76.47 (n)
fruit fly
(Drosophila melanogaster)
Insecta unc-13 33 34
  • 62.36 (n)
worm
(Caenorhabditis elegans)
Secernentea unc-13 33 34
  • 56.07 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 61 (a)
OneToMany
Species where no ortholog for UNC13A was found in the sources mined by GeneCards:
  • 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
rs1057517677 Uncertain significance 17,669,643(-) ACTCC(C/T)AGGTC reference, stop-gained
rs1000042318 -- 17,670,309(+) GATCT(C/T)AGCTC intron-variant
rs1000097149 -- 17,612,517(+) TTCAT(C/T)TACTC intron-variant
rs1000178437 -- 17,673,902(+) GCTAG(C/T)TGGGA intron-variant
rs1000272409 -- 17,680,398(+) GGAGG(A/G)CGTGG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv50n68 CNV loss 17160897
esv2718280 CNV deletion 23290073
esv3305310 CNV mobile element insertion 20981092
esv3397826 CNV insertion 20981092
esv3440250 CNV insertion 20981092
esv3556124 CNV deletion 23714750
esv999988 CNV deletion 20482838
nsv1072868 CNV deletion 25765185
nsv1109171 CNV deletion 24896259
nsv1113981 CNV deletion 24896259
nsv1123230 CNV deletion 24896259
nsv1124778 CNV duplication 24896259
nsv138145 CNV deletion 16902084
nsv138197 CNV deletion 16902084
nsv474157 CNV novel sequence insertion 20440878

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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: HGMD, Orphanet, and DISEASES

Disorder Aliases PubMed IDs
amyotrophic lateral sclerosis 1
  • amyotrophic lateral sclerosis
frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • ftdals1
- 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 HY (The Journal of biological chemistry 2003) 3 4 22 60
  2. SYT14L, especially its C2 domain, is involved in regulating melanocyte differentiation. (PMID: 23999003) Yoo JC … Yoon TJ (Journal of dermatological science 2013) 3 4 60
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  4. Analysis of the UNC13A gene as a risk factor for sporadic amyotrophic lateral sclerosis. (PMID: 20385924) Daoud H … Rouleau GA (Archives of neurology 2010) 3 45 60
  5. Fbxo45, a novel ubiquitin ligase, regulates synaptic activity. (PMID: 19996097) Tada H … Okano H (The Journal of biological chemistry 2010) 3 22 60

Products for UNC13A Gene

Sources for UNC13A Gene

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