Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

UNC13A Gene

protein-coding   GIFtS: 58
GCID: GC19M017712

Unc-13 Homolog A (C. Elegans)

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Unc-13 Homolog A (C. Elegans)1 2
Munc13-12 3
KIAA10323 5
Protein Unc-13 Homolog A2

External Ids:    HGNC: 231501   Entrez Gene: 230252   Ensembl: ENSG000001304777   OMIM: 6098945   UniProtKB: Q9UPW83   

Export aliases for UNC13A gene to outside databases

Previous GC identifers: GC19M017575 GC19M017276


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 lateral sclerosis, and amyotrophic lateral sclerosis, and among its related super-pathways are Synaptic Vesicle Pathway. GO annotations related to this gene include diacylglycerol binding and metal ion binding. An important paralog of this gene is UNC13C.

UniProtKB/Swiss-Prot: UN13A_HUMAN, Q9UPW8
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)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011295.11  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the UNC13A gene promoter:
         E2F-3a   E2F-4   E2F-5   Sp1   NRSF form 1   E2F-2   NRSF form 2   E2F-1   E2F   aMEF-2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for UNC13A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UNC13A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.11   Ensembl cytogenetic band:  19p13.11   HGNC cytogenetic band: 19p13.12

UNC13A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UNC13A gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M017712:  view genomic region     (about GC identifiers)

Start:
17,712,137 bp from pter      End:
17,799,401 bp from pter
Size:
87,265 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: UN13A_HUMAN, Q9UPW8 (See protein sequence)
Recommended Name: Protein unc-13 homolog A  
Size: 1703 amino acids; 193014 Da
Subunit: 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)
Subcellular location: Cytoplasm (By similarity). Cell membrane; Peripheral membrane protein (By similarity). Cell
junction, synapse, presynaptic cell membrane; Peripheral membrane protein (By similarity). Note=Localized to the
active zone of presynaptic density. Translocated to the plasma membrane as response to phorbol ester binding (By
similarity)
Secondary accessions: E5RHY9

Explore the universe of human proteins at neXtProt for UNC13A: NX_Q9UPW8

Explore proteomics data for UNC13A at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UPW8

  • UNC13A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    UNC13A Protein Expression
    REFSEQ proteins: NP_001073890.2  
    ENSEMBL proteins: 
     ENSP00000429562   ENSP00000447236   ENSP00000447572   ENSP00000446831   ENSP00000400409  
     ENSP00000252773  

    Human Recombinant Protein Products for UNC13A: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for UNC13A
    GenScript Custom Purified and Recombinant Proteins Services for UNC13A
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for UNC13A 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane IEA--
    GO:0030054cell junction IEA--
    GO:0031594neuromuscular junction IEA--
    GO:0042734presynaptic membrane IEA--

    UNC13A for ontologies           About GeneDecksing



    UNC13A Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for UNC13A
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for UNC13A
    GenScript Custom Superior Antibodies Services for UNC13A
    Novus Biologicals UNC13A Antibodies
    Abcam antibodies for UNC13A
    Cloud-Clone Corp. Antibodies for UNC13A 
    Search ThermoFisher Antibodies for UNC13A
    LSBio Antibodies in human, mouse, rat for UNC13A 

    Assay Products for UNC13A: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for UNC13A
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for UNC13A
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for UNC13A 
    Cloud-Clone Corp. CLIAs for UNC13A


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/11 InterPro protein domains (see all 11):
     IPR027082 Unc13A
     IPR014772 Munc13_dom-2
     IPR008973 C2_Ca/lipid-bd_dom_CaLB
     IPR010439 Ca-dep_secretion_activator
     IPR019558 Munc13_subgr_dom-2

    Graphical View of Domain Structure for InterPro Entry Q9UPW8

    ProtoNet protein and cluster: Q9UPW8

    2 Blocks protein domains:
    IPB000008 C2 domain
    IPB010439 Protein of unknown function DUF1041


    UniProtKB/Swiss-Prot: UN13A_HUMAN, Q9UPW8
    Domain: The C2 domains are not involved in calcium-dependent phospholipid binding (By similarity)
    Domain: The C-terminal region containing both MHD domains and the third C2 domain is required for synaptic vesicle
    priming activity (By similarity)
    Similarity: Belongs to the unc-13 family
    Similarity: Contains 3 C2 domains
    Similarity: Contains 1 MHD1 (MUNC13 homology domain 1) domain
    Similarity: Contains 1 MHD2 (MUNC13 homology domain 2) domain
    Similarity: Contains 1 phorbol-ester/DAG-type zinc finger


    UNC13A for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: UN13A_HUMAN, Q9UPW8
    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)

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0019992diacylglycerol binding IEA--
    GO:0046872metal ion binding IEA--
         
    UNC13A for ontologies           About GeneDecksing


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Unc13a):
     behavior/neurological  endocrine/exocrine gland  homeostasis/metabolism  mortality/aging  nervous system 
     reproductive system  respiratory system 

    UNC13A for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Unc13atm1Bros for UNC13A

       inGenious Targeting Laboratory - Custom generated mouse model solutions for UNC13A 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for UNC13A

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for UNC13A 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for UNC13A 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat UNC13A
    8/54 QIAGEN miScript miRNA Assays for microRNAs that regulate UNC13A (see all 54):
    hsa-miR-596 hsa-miR-21* hsa-miR-330-5p hsa-miR-15a hsa-miR-503 hsa-miR-632 hsa-miR-301a hsa-miR-218
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for UNC13A
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat UNC13A

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for UNC13A
    Sirion Biotech Customized adenovirus for overexpression of UNC13A

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for UNC13A (see all 5)
    OriGene ORF clones in mouse, rat for UNC13A
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: UNC13A (NM_001080421)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UNC13A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UNC13A

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for UNC13A
    Search LifeMap BioReagents cell lines for UNC13A
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UNC13A


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for UNC13A About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Synaptic vesicle cycle
    Synaptic vesicle cycle0.50
    Synaptic Vesicle Pathway0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for UNC13A
        Synaptic Vesicle Pathway


    1         Kegg Pathway  (Kegg details for UNC13A):
        Synaptic vesicle cycle


    UNC13A for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for UNC13A

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/11 Interacting proteins for UNC13A (Q9UPW83 ENSP000004004094) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM1P621583I2D: score=3 
    CALM2P621583I2D: score=3 
    CALM3P621583I2D: score=3 
    DNPEPQ9ULA03, ENSP000002730754I2D: score=1 STRING: ENSP00000273075
    ERC2O150833, ENSP000002882214I2D: score=1 STRING: ENSP00000288221
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001956positive regulation of neurotransmitter secretion IEA--
    GO:0007528neuromuscular junction development IEA--
    GO:0016081synaptic vesicle docking involved in exocytosis IEA--
    GO:0016082synaptic vesicle priming IEA--
    GO:0016188synaptic vesicle maturation IEA--

    UNC13A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    UNC13A for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for UNC13A (UN13A)

    10/844 HMDB Compounds for UNC13A (see all 844)    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    DG(14:0/14:0/0:0)DAG(14:0/14:0) (see all 9)----
    DG(14:0/14:1(9Z)/0:0)DAG(14:0/14:1) (see all 15)----
    DG(14:0/15:0/0:0)Diacylglycerol(29:0) (see all 9)----
    DG(14:0/16:0/0:0)DAG(30:0) (see all 9)----
    DG(14:0/16:1(9Z)/0:0)DG(30:1) (see all 15)----
    DG(14:0/18:0/0:0)DG(14:0/18:0) (see all 9)----
    DG(14:0/18:1(11Z)/0:0)Diacylglycerol (see all 15)----
    DG(14:0/18:1(9Z)/0:0)1-myristoyl-2-oleoyl-sn-glycerol (see all 15)----
    DG(14:0/18:2(9Z,12Z)/0:0)DAG(14:0/18:2n6) (see all 15)----

    1 Novoseek inferred chemical compound relationship for UNC13A gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pkcs 63.2 2 15123597 (1)

    Search CenterWatch for drugs/clinical trials and news about UNC13A / UN13A

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for UNC13A gene: 
    NM_001080421.2  

    Unigene Cluster for UNC13A:

    Unc-13 homolog A (C. elegans)
    Hs.164502  [show with all ESTs]
    Unigene Representative Sequence: NM_001080421
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000519716 ENST00000551649 ENST00000552293 ENST00000550896 ENST00000523229
    ENST00000517497 ENST00000601528 ENST00000428389(uc021uqk.1) ENST00000252773

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat UNC13A
    8/54 QIAGEN miScript miRNA Assays for microRNAs that regulate UNC13A (see all 54):
    hsa-miR-596 hsa-miR-21* hsa-miR-330-5p hsa-miR-15a hsa-miR-503 hsa-miR-632 hsa-miR-301a hsa-miR-218
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for UNC13A
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat UNC13A
    Clone
    Products:
         
    OriGene clones in human, mouse for UNC13A (see all 5)
    OriGene ORF clones in mouse, rat for UNC13A
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: UNC13A (NM_001080421)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UNC13A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UNC13A
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for UNC13A
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat UNC13A
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat UNC13A
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat UNC13A

    Additional mRNA sequence: 

    AB028955.2 AK055065.1 BC011004.2 

    10 DOTS entries:

    DT.40273980  DT.413133  DT.101981028  DT.121431812  DT.92418026  DT.121431973  DT.92008746  DT.92023872 
    DT.102840355  DT.97807379 

    24/99 AceView cDNA sequences (see all 99):

    CB068880 BQ268403 AA350118 AA897682 BM510145 BX645110 BF980863 BX645221 
    BE073877 BE219414 AW295046 CB153229 AA788899 BC011004 AA339505 AI681220 
    BM661571 AI916957 BQ924529 CK822767 AB028955 BQ637535 CK005234 BX507982 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    UNC13A expression in normal human tissues (normalized intensities)      UNC13A embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGTTGAGAT
    UNC13A Expression
    About this image


    UNC13A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Testis (Reproductive System)
             Sertoli cells Seminiferous Tubules
     
     Inner Cell Mass (Early Embryonic Tissues)
             Line H9 (WA09)

    See UNC13A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for UNC13A

    SOURCE GeneReport for Unigene cluster: Hs.164502

    UniProtKB/Swiss-Prot: UN13A_HUMAN, Q9UPW8
    Tissue specificity: Expressed in pancreatic islet cells

        SABiosciences Custom PCR Arrays for UNC13A
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for UNC13A
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat UNC13A
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat UNC13A
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat UNC13A
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UNC13A

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for UNC13A gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Unc13a1 , 5 unc-13 homolog A (C. elegans)1, 5 88.41(n)1
    96.47(a)1
      8 (34.43 cM)5
    3820181  NM_001029873.21  NP_001025044.21 
     716244175 
    chicken
    (Gallus gallus)
    Aves LOC4304871 protein unc-13 homolog A-like 83.94(n)
    91.84(a)
      430487  XM_428042.3  XP_428042.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    97(a)
    84(a)
    (see all 3)
    many → 1
    many → 1
    (see all 3)
    AAWZ02037616(1028-11763)
    GL344988.1(2-11194)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.297182 Xenopus laevis transcribed sequence with moderate similarity more 82.63(n)    CF288458.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkey-110c1.71 si:dkey-110c1.7 74.81(n)
    83.91(a)
      568618  NM_001045165.1  NP_001038630.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta unc-131 CG2999-PA 62.74(n)
    69.02(a)
      43841  NM_143692.3  NP_651949.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for UNC13A gene
    UNC13C2  UNC13B2  
    3 SIMAP similar genes for UNC13A using alignment to 6 protein entries:     UN13A_HUMAN (see all proteins):
    UNC13B    UNC13B variant protein    UNC13C

    UNC13A for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2164 SNPs in UNC13A are shown (see all 2164)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs673522361,2
    C--17360921(+) CCCCC-/CCCCCCCCC
    /CCCCCCCCCC
    ACTCC
    2 -- int1 cds11NA 2
    rs1427797811,2
    --17711645(+) GATCAC/GCTGAG 1 -- ds50010--------
    rs104057801,2
    C,F,A--17711663(+) gttcgC/Agacca 1 -- ds50011Minor allele frequency- A:0.50NA 2
    rs558536781,2
    C--17711876(+) AAAAA-/AAAAAAAA
    /AAAAAAAAA
    GCAAT
    2 -- ds5001 cds11NA 2
    rs1925194981,2
    --17711940(+) ATCTGA/GGCAAG 1 -- ds50010--------
    rs1142938991,2
    C,F--17711997(+) GACTCC/AAGTTG 1 -- ds50011Minor allele frequency- A:0.03WA 118
    rs1482940101,2
    C--17712066(+) AGGTGC/TTAATC 1 -- ds50010--------
    rs1414947631,2
    --17712080(+) CGTGAA/GGTTTT 1 -- ds50010--------
    rs1846064111,2
    --17712094(+) TTTTGG/TTTTTT 1 -- ds50010--------
    rs1890055531,2
    --17712152(+) TGTGTA/GGTTTT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for UNC13A (17712137 - 17799401 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for UNC13A:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2718280CNV Deletion23290073
    esv999988CNV Deletion20482838
    esv269588CNV Insertion20981092
    dgv50n68CNV Loss17160897
    nsv138197CNV Loss16902084
    nsv138145CNV Loss16902084
    nsv911208CNV Loss21882294
    nsv911209CNV Loss21882294


    Human Gene Mutation Database (HGMD): UNC13A
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing UNC13A
    DNA2.0 Custom Variant and Variant Library Synthesis for UNC13A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609894    OMIM disorders: --

    4 diseases for UNC13A:    About MalaCards
    lateral sclerosis    amyotrophic lateral sclerosis    pancreatitis    neuronitis

    1 disease from the University of Copenhagen DISEASES database for UNC13A:
    Amyotrophic lateral sclerosis

    UNC13A for disorders           About GeneDecksing

    Genetic Association Database (GAD): UNC13A
    Human Genome Epidemiology (HuGE) Navigator: UNC13A (4 documents)

    Export disorders for UNC13A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for UNC13A gene, integrated from 9 sources (see all 37):
    (articles sorted by number of sources associating them with UNC13A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Regulation of insulin exocytosis by Munc13-1. (PubMed id 12871971)1, 2, 9 Sheu L....Gaisano H.Y. (2003)
    2. Analysis of the UNC13A gene as a risk factor for spor adic amyotrophic lateral sclerosis. (PubMed id 20385924)1, 4 Daoud H....Rouleau G.A. (2010)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    4. Genome-wide association study identifies 19p13.3 (UNC 13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral scleros is. (PubMed id 19734901)1, 4 van Es M.A....van den Berg L.H. (2009)
    5. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10470851)1, 2 Kikuno R....Ohara O. (1999)
    6. Munc13-1-mediated vesicle priming contributes to secretory amyloid precursor protein processing. (PubMed id 15123597)1, 9 Rossner S....Brose N. (2004)
    7. Physical and functional interaction of the active zone proteins, CAST, RIM1, and Bassoon, in neurotransmitter release. (PubMed id 14734538)1, 9 Takao-Rikitsu E....Takai Y. (2004)
    8. Fbxo45, a novel ubiquitin ligase, regulates synaptic activity. (PubMed id 19996097)1, 9 Tada H....Okano H. (2010)
    9. UNC13A influences survival in Italian amyotrophic late ral sclerosis patients: a population-based study. (PubMed id 22921269)1 Chio A....Calvo A. (2013)
    10. Age of onset of amyotrophic lateral sclerosis is modul ated by a locus on 1p34.1. (PubMed id 22959728)1  ....Zheng J.G. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23025 HGNC: 23150 AceView: UNC13A Ensembl:ENSG00000130477 euGenes: HUgn23025
    ECgene: UNC13A Kegg: 23025 H-InvDB: UNC13A

    (According to HUGE)
    About This Section
    HUGE: KIAA1032

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for UNC13A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for UNC13A gene:
    Search GeneIP for patents involving UNC13A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Antibodies for UNC13A (UNC13A)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for UNC13A  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for UNC13A  
     OriGene qSTAR qPCR primer pairs in human, mouse for UNC13A   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for UNC13A   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for UNC13A   OriGene Custom Protein Services for UNC13A  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat UNC13A
     QIAGEN SeqTarget long-range PCR primers for resequencing UNC13A
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UNC13A
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat UNC13A
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat UNC13A
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat UNC13A
     GenScript Custom Purified and Recombinant Proteins Services for UNC13A GenScript cDNA clones with any tag delivered in your preferred vector for UNC13A
     GenScript Custom Assay Services for UNC13A GenScript Custom Superior Antibodies Services for UNC13A
     GenScript Custom overexpressing Cell Line Services for UNC13A CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in UNC13A promoter
     Search Chromatin IP Primers for UNC13A
     RT2 qPCR Primer Assay in human, mouse, rat UNC13A
     GNC Network for UNC13A
     SABiosciences Custom PCR Arrays for UNC13A
     Search Tocris compounds for UNC13A (UN13A)
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     UNC13A antibodies
     Antibodies for UNC13A
     See all of Abcam's Antibodies, Kits and Proteins for UNC13A
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for UNC13A
     Antibodies for UNC13A
     ELISAs for UNC13A
     CLIAs for UNC13A
     Search LifeMap BioReagents cell lines for UNC13A
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UNC13A
     Browse SwitchGear 3'UTR luciferase reporter plasmids for UNC13A
     Browse SwitchGear Promoter luciferase reporter plasmids for UNC13A
     Search ThermoFisher Antibodies for UNC13A
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UNC13A
     inGenious Targeting Laboratory - Custom generated mouse model solutions for UNC13A
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for UNC13A
    Customized:
     lentivirus for stable overexpression
     lentivirus expression plasmids for stable overexpression
     adenovirus for overexpression of UNC13A
     LSBio Antibodies in human, mouse, rat for UNC13A
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      UNC13A gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4