Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



UNC13A Gene

protein-coding   GIFtS: 57
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

TryGeneCards Plus

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

TryGeneCards Plus

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. GO annotations related to this gene include diacylglycerol 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000019.10  NT_011295.12  NC_018930.2  
Regulatory elements:
   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 Chromatin IP Primers for UNC13A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

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)
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See UNC13A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    UNC13A Human Recombinant Protein Products:

    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

    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
    Novus Biologicals UNC13A Antibodies
    Search for Antibodies for UNC13A at Abcam
    Cloud-Clone Corp. Antibodies for UNC13A
    Search ThermoFisher Antibodies for UNC13A
    LSBio Antibodies in human, mouse, rat for UNC13A

    UNC13A Assay Products:

    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

    TryGeneCards Plus
    Selected InterPro protein domains (see all 8):
     IPR014772 Munc13_dom-2
     IPR019558 Munc13_subgr_dom-2
     IPR027082 Unc13A
     IPR010439 Ca-dep_secretion_activator
     IPR014770 Munc13_1

    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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    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:    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 4 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: Let us create your new Knockout/Knockin mouse model for UNC13A
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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:
        
    miRTarBase miRNAs that target UNC13A:
    hsa-mir-26b-5p (MIRT029920)

    Block miRNA regulation of human, mouse, rat UNC13A using miScript Target Protectors
    Selected qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for UNC13A
    Predesigned siRNA for gene silencing in human, mouse, rat UNC13A

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for 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)
    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
    Browse ESI BIO Cell Lines and PureStem Progenitors for UNC13A 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UNC13A


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    UN13A_HUMAN, Q9UPW8: 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)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol2
    nucleus2
    cytoskeleton1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

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

    UNC13A for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for UNC13A About    
    See pathways by source

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

    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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for UNC13A
    Interactions:

        GeneGlobe Interaction Network for UNC13A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    Selected Interacting proteins for UNC13A (Q9UPW83 ENSP000004004094) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM1P621583I2D: score=3 
    CALM2P621583I2D: score=3 
    CALM3P621583I2D: score=3 
    RIMS2Q9UQ263, ENSP000003862284I2D: score=1 STRING: ENSP00000390665 STRING: ENSP00000386228
    DNPEPQ9ULA03, ENSP000002730754I2D: score=1 STRING: ENSP00000273075
    About this table

    Gene Ontology (GO): Selected biological process terms (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 ----
    GO:0016188synaptic vesicle maturation IEA--

    UNC13A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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

    Browse Tocris compounds for UNC13A (UN13A)

    Selected 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)



    UNC13A for compounds           About GeneDecksing



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    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:
         
    Block miRNA regulation of human, mouse, rat UNC13A using miScript Target Protectors
    Selected qRT-PCR 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:
         
    OriGene RNAi products in human, mouse, rat for UNC13A
    Predesigned 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
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat UNC13A
      QuantiTect SYBR Green Assays in human, mouse, rat UNC13A
      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 

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    UNC13A expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 2) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Testis (Reproductive System)
             Sertoli cells Seminiferous Tubules
    UNC13A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UNC13A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.164502

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

        Custom PCR Arrays for UNC13A
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for UNC13A
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat UNC13A
    QuantiTect SYBR Green Assays in human, mouse, rat UNC13A
    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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for UNC13A gene from Selected species (see all 15)    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 88.07(n)1
    95.95(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 85.32(n)
    94.85(a)
      430487  XM_428042.4  XP_428042.4 
    lizard
    (Anolis carolinensis)
    Reptilia UNC13A6
    unc-13 homolog A (C. elegans)
    97(a)
    1 ↔ 1
    AAWZ02037616(1028-11763)
    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 76.47(n)
    87.1(a)
      568618  NM_001045165.1  NP_001038630.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta unc-131 unc-13 62.36(n)
    68.67(a)
      43841  NM_143692.4  NP_651949.2 
    worm
    (Caenorhabditis elegans)
    Secernentea unc-131 unc-13 56.07(n)
    57.93(a)
      172497  NM_001026703.2  NP_001021874.1 


    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

    TryGeneCards Plus
    Paralogs for UNC13A gene
    UNC13C2  RASGRP42  RASGRP12  RASGRP22  UNC13B2  RASGRP32  
    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for UNC13A (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
    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 609894    OMIM disorders: --

    5 diseases for UNC13A:    
    About MalaCards
    lateral sclerosis    amyotrophic lateral sclerosis    obesity    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

    TryGeneCards Plus

    PubMed articles for UNC13A gene, integrated from 10 sources (see all 39):
    (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. (J. Biol. Chem. 2003)
    2. Analysis of the UNC13A gene as a risk factor for sporadic amyotrophic lateral sclerosis. (PubMed id 20385924)1, 4 Daoud H....Rouleau G.A. (Arch. Neurol. 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. (Mol. Med. 2010)
    4. Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. (PubMed id 19734901)1, 4 van Es M.A....van den Berg L.H. (Nat. Genet. 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. (DNA Res. 1999)
    6. Munc13-1-mediated vesicle priming contributes to secretory amyloid precursor protein processing. (PubMed id 15123597)1, 9 Rossner S....Brose N. (J. Biol. Chem. 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. (J. Cell Biol. 2004)
    8. Fbxo45, a novel ubiquitin ligase, regulates synaptic activity. (PubMed id 19996097)1, 9 Tada H....Okano H. (J. Biol. Chem. 2010)
    9. UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: a population-based study. (PubMed id 22921269)1 ChiA^ A....Calvo A. (Neurobiol. Aging 2013)
    10. Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1. (PubMed id 22959728)1  ....Zheng J.G. (Neurobiol. Aging 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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

    TryGeneCards Plus
    Entrez Gene: 23025 HGNC: 23150 AceView: UNC13A Ensembl:ENSG00000130477 euGenes: HUgn23025
    ECgene: UNC13A Kegg: 23025 H-InvDB: UNC13A

    (According to HUGE)
    About This Section

    TryGeneCards Plus
    HUGE: KIAA1032

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    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

    TryGeneCards Plus
    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Antibodies for UNC13A (UNC13A)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot 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 Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     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  

     
     
     Block miRNA regulation of human, mouse, rat UNC13A using miScript Target Protectors SeqTarget long-range PCR primers for resequencing UNC13A
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat UNC13A Predesigned siRNA for gene silencing in human, mouse, rat UNC13A
     QuantiFast Probe-based Assays in human, mouse, rat UNC13A QuantiTect SYBR Green Assays in human, mouse, rat UNC13A
     Custom PCR Arrays for UNC13A Search Chromatin IP Primers for UNC13A
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat UNC13A  GeneGlobe Interaction Network for UNC13A
     Regulatory tfbs in UNC13A promoter
     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 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

     Search Tocris compounds for UNC13A (UN13A)
     Browse Sino Biological Proteins
     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
     Search for Antibodies for UNC13A at Abcam
     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



     Browse ESI BIO Cell Lines and PureStem Progenitors 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: Let us create your new Knockout/Knockin mouse model for UNC13A
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for 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
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 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.
    Version: 3.12.162 20 Aug 2014
    hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4