Atlas of Genetics and Cytogenetics in Oncology and Haematology


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UNC13A (unc-13 homolog A)

Identity

Alias (NCBI)Munc13-1
HGNC (Hugo) UNC13A
HGNC Alias symbKIAA1032
Munc13-1
HGNC Previous nameunc-13 homolog A (C. elegans)
LocusID (NCBI) 23025
Atlas_Id 54754
Location 19p13.11  [Link to chromosome band 19p13]
Location_base_pair Starts at 17601328 and ends at 17688199 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
GLUL (1q25.3)::UNC13A (19p13.11)HDLBP (2q37.3)::UNC13A (19p13.11)SBK1 (16p11.2)::UNC13A (19p13.11)
UNC13A (19p13.11)::UNC13A (19p13.11)UNC13A (19p13.11)::WBP2 (17q25.1)UNC13A (19p13.11)::ZNF492 (19p12)
GLUL 1q25.3::UNC13A 19p13.11

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)UNC13A   23150
Cards
Entrez_Gene (NCBI)UNC13A    unc-13 homolog A
AliasesMunc13-1
GeneCards (Weizmann)UNC13A
Ensembl hg19 (Hinxton)ENSG00000130477 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000130477 [Gene_View]  ENSG00000130477 [Sequence]  chr19:17601328-17688199 [Contig_View]  UNC13A [Vega]
ICGC DataPortalENSG00000130477
TCGA cBioPortalUNC13A
AceView (NCBI)UNC13A
Genatlas (Paris)UNC13A
SOURCE (Princeton)UNC13A
Genetics Home Reference (NIH)UNC13A
Genomic and cartography
GoldenPath hg38 (UCSC)UNC13A  -     chr19:17601328-17688199 -  19p13.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)UNC13A  -     19p13.11   [Description]    (hg19-Feb_2009)
GoldenPathUNC13A - 19p13.11 [CytoView hg19]  UNC13A - 19p13.11 [CytoView hg38]
ImmunoBaseENSG00000130477
Genome Data Viewer NCBIUNC13A [Mapview hg19]  
OMIM609894   
Gene and transcription
Genbank (Entrez)AB028955 AK055065 BC011004 DA236619 R60139
RefSeq transcript (Entrez)NM_001080421 NM_001387021 NM_001387022 NM_001387023
Consensus coding sequences : CCDS (NCBI)UNC13A
Gene ExpressionUNC13A [ NCBI-GEO ]   UNC13A [ EBI - ARRAY_EXPRESS ]   UNC13A [ SEEK ]   UNC13A [ MEM ]
Gene Expression Viewer (FireBrowse)UNC13A [ Firebrowse - Broad ]
GenevisibleExpression of UNC13A in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23025
GTEX Portal (Tissue expression)UNC13A
Human Protein AtlasENSG00000130477-UNC13A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UPW8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UPW8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UPW8
PhosPhoSitePlusQ9UPW8
Domaine pattern : Prosite (Expaxy)C2 (PS50004)    MHD1 (PS51258)    MHD2 (PS51259)    ZF_DAG_PE_1 (PS00479)    ZF_DAG_PE_2 (PS50081)   
Domains : Interpro (EBI)C2_dom    C2_domain_sf    CAPS_dom    Munc13_1    Munc13_dom-2    Munc13_subgr_dom-2    PE/DAG-bd    Unc-13    Unc-13_C2B    Unc13A   
Domain families : Pfam (Sanger)C1_1 (PF00130)    C2 (PF00168)    DUF1041 (PF06292)    Membr_traf_MHD (PF10540)   
Domain families : Pfam (NCBI)pfam00130    pfam00168    pfam06292    pfam10540   
Domain families : Smart (EMBL)C1 (SM00109)  C2 (SM00239)  DUF1041 (SM01145)  
Conserved Domain (NCBI)UNC13A
SuperfamilyQ9UPW8
AlphaFold pdb e-kbQ9UPW8   
Human Protein Atlas [tissue]ENSG00000130477-UNC13A [tissue]
Protein Interaction databases
DIP (DOE-UCLA)Q9UPW8
IntAct (EBI)Q9UPW8
BioGRIDUNC13A
STRING (EMBL)UNC13A
ZODIACUNC13A
Ontologies - Pathways
QuickGOQ9UPW8
Ontology : AmiGOcalcium ion binding  calmodulin binding  calmodulin binding  phospholipid binding  plasma membrane  neurotransmitter secretion  neuromuscular junction development  synaptic vesicle docking  synaptic vesicle priming  synaptic vesicle maturation  syntaxin-1 binding  syntaxin-1 binding  diacylglycerol binding  cell differentiation  synaptic vesicle membrane  neuromuscular junction  synaptic transmission, glutamatergic  intracellular signal transduction  presynaptic membrane  presynaptic membrane  neuron projection  terminal bouton  presynaptic active zone  regulation of synaptic transmission, glutamatergic  dense core granule priming  presynaptic active zone cytoplasmic component  neuronal dense core vesicle exocytosis  presynaptic dense core vesicle exocytosis  positive regulation of dendrite extension  
Ontology : EGO-EBIcalcium ion binding  calmodulin binding  calmodulin binding  phospholipid binding  plasma membrane  neurotransmitter secretion  neuromuscular junction development  synaptic vesicle docking  synaptic vesicle priming  synaptic vesicle maturation  syntaxin-1 binding  syntaxin-1 binding  diacylglycerol binding  cell differentiation  synaptic vesicle membrane  neuromuscular junction  synaptic transmission, glutamatergic  intracellular signal transduction  presynaptic membrane  presynaptic membrane  neuron projection  terminal bouton  presynaptic active zone  regulation of synaptic transmission, glutamatergic  dense core granule priming  presynaptic active zone cytoplasmic component  neuronal dense core vesicle exocytosis  presynaptic dense core vesicle exocytosis  positive regulation of dendrite extension  
Pathways : KEGGSynaptic vesicle cycle   
NDEx NetworkUNC13A
Atlas of Cancer Signalling NetworkUNC13A
Wikipedia pathwaysUNC13A
Orthology - Evolution
OrthoDB23025
GeneTree (enSembl)ENSG00000130477
Phylogenetic Trees/Animal Genes : TreeFamUNC13A
Homologs : HomoloGeneUNC13A
Homology/Alignments : Family Browser (UCSC)UNC13A
Gene fusions - Rearrangements
Fusion : MitelmanGLUL::UNC13A [1q25.3/19p13.11]  
Fusion : MitelmanUNC13A::ZNF492 [19p13.11/19p12]  
Fusion : QuiverUNC13A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUNC13A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)UNC13A
dbVarUNC13A
ClinVarUNC13A
MonarchUNC13A
1000_GenomesUNC13A 
Exome Variant ServerUNC13A
GNOMAD BrowserENSG00000130477
Varsome BrowserUNC13A
ACMGUNC13A variants
VarityQ9UPW8
Genomic Variants (DGV)UNC13A [DGVbeta]
DECIPHERUNC13A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisUNC13A 
Mutations
ICGC Data PortalUNC13A 
TCGA Data PortalUNC13A 
Broad Tumor PortalUNC13A
OASIS PortalUNC13A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUNC13A  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DUNC13A
Mutations and Diseases : HGMDUNC13A
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaUNC13A
DgiDB (Drug Gene Interaction Database)UNC13A
DoCM (Curated mutations)UNC13A
CIViC (Clinical Interpretations of Variants in Cancer)UNC13A
Cancer3DUNC13A
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609894   
Orphanet106   
DisGeNETUNC13A
MedgenUNC13A
Genetic Testing Registry UNC13A
NextProtQ9UPW8 [Medical]
GENETestsUNC13A
Target ValidationUNC13A
Huge Navigator UNC13A [HugePedia]
ClinGenUNC13A
Clinical trials, drugs, therapy
MyCancerGenomeUNC13A
Protein Interactions : CTDUNC13A
Pharm GKB GenePA134879020
PharosQ9UPW8
Clinical trialUNC13A
Miscellaneous
canSAR (ICR)UNC13A
HarmonizomeUNC13A
ARCHS4UNC13A
DataMed IndexUNC13A
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXUNC13A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Sun Jan 16 18:39:52 CET 2022

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