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    UNC13C unc-13 homolog C [ Homo sapiens (human) ]

    Gene ID: 440279, updated on 5-May-2024

    Summary

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    Official Symbol
    UNC13Cprovided by HGNC
    Official Full Name
    unc-13 homolog Cprovided by HGNC
    Primary source
    HGNC:HGNC:23149
    See related
    Ensembl:ENSG00000137766 MIM:614568; AllianceGenome:HGNC:23149
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable calmodulin binding activity and syntaxin-1 binding activity. Predicted to be involved in several processes, including glutamatergic synaptic transmission; regulated exocytosis; and synaptic vesicle maturation. Predicted to be located in presynaptic active zone. Predicted to be active in several cellular components, including axon terminus; parallel fiber to Purkinje cell synapse; and presynaptic active zone cytoplasmic component. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in brain (RPKM 3.2), thyroid (RPKM 0.4) and 4 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See UNC13C in Genome Data Viewer
    Location:
    15q21.3
    Exon count:
    39
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (53837602..54633440)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (51647087..52443374)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (54270638..54925638)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene WD repeat domain 72 Neighboring gene RNA, U2 small nuclear 53, pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_39831 Neighboring gene RNA, U6 small nuclear 449, pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr15:54124093-54124594 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:54127299-54128498 Neighboring gene uncharacterized LOC105370827 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:54240389-54241588 Neighboring gene uncharacterized LOC124903495 Neighboring gene intraflagellar transport 80 homolog (Chlamydomonas) pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_39945 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_39975 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 74 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_40016 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_40047 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6452 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:54886172-54887371 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:54897116-54897693 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_40093 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_40111 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_40125 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_40127 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:55282569-55283080 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:55283081-55283592 Neighboring gene uncharacterized LOC105370829 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:55356487-55357068 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_40151 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:55435814-55435975 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:55488259-55489150 Neighboring gene ribosomal L24 domain containing 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Circ-KIAA0907 inhibits the progression of oral squamous cell carcinoma by regulating the miR-96-5p/UNC13C axis. Dong W, et al. World J Surg Oncol, 2021 Mar 14. PMID 33715625, Free PMC Article
    2. Genome-wide association study of age at menarche in African-American women. Demerath EW, et al. Hum Mol Genet, 2013 Aug 15. PMID 23599027, Free PMC Article
    3. Genome-wide association with select biomarker traits in the Framingham Heart Study. Benjamin EJ, et al. BMC Med Genet, 2007 Sep 19. PMID 17903293, Free PMC Article
    4. Genome-wide association study of antibody response to smallpox vaccine. Ovsyannikova IG, et al. Vaccine, 2012 Jun 13. PMID 22542470, Free PMC Article
    5. The synaptic vesicle cycle. Sudhof TC. Annu Rev Neurosci, 2004. PMID 15217342

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Prognostic and Clinical Implications of UNC13C expression in Hepatocellular Carcinoma Patients.
      Title: Prognostic and Clinical Implications of UNC13C expression in Hepatocellular Carcinoma Patients.
    2. Circ-KIAA0907 inhibits the progression of oral squamous cell carcinoma by regulating the miR-96-5p/UNC13C axis.
      Title: Circ-KIAA0907 inhibits the progression of oral squamous cell carcinoma by regulating the miR-96-5p/UNC13C axis.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    4. Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Molecular genetics of successful smoking cessation: convergent genome-wide association study results.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
    EBI GWAS Catalog
    Genome-wide association study of age at menarche in African-American women.
    EBI GWAS Catalog
    Genome-wide association study of antibody response to smallpox vaccine.
    EBI GWAS Catalog
    Genome-wide association with select biomarker traits in the Framingham Heart Study.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp547H074

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables calmodulin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables diacylglycerol binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phospholipid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables syntaxin-1 binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in chemical synaptic transmission ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in dense core granule priming IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of synaptic plasticity IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in presynaptic dense core vesicle exocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in synaptic transmission, glutamatergic IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in synaptic vesicle docking IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in synaptic vesicle priming IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in calyx of Held IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in neuromuscular junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in parallel fiber to Purkinje cell synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in presynaptic active zone TAS
    Traceable Author Statement
    more info
    		 PubMed 
    is_active_in presynaptic active zone cytoplasmic component IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in presynaptic membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in synaptic vesicle membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in terminal bouton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    protein unc-13 homolog C
    Names
    Munc13-3
    unc-13-like 3

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001080534.3 → NP_001074003.1  protein unc-13 homolog C isoform 1

      See identical proteins and their annotated locations for NP_001074003.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC010867, AC022302, AC034103, AC068711, AC084759
      Consensus CDS
      CCDS45264.1
      UniProtKB/Swiss-Prot
      Q0P613, Q8NB66, Q8ND48, Q96NP3
      Related
      ENSP00000260323.11, ENST00000260323.16
      Conserved Domains (5) summary
      cd04027
      Location:1220 → 1346
      C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins
      cd08395
      Location:2062 → 2181
      C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins
      cd00029
      Location:1098 → 1147
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
      pfam06292
      Location:1541 → 1646
      DUF1041; Domain of Unknown Function (DUF1041)
      pfam10540
      Location:1888 → 2024
      Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain

    2. NM_001329919.2 → NP_001316848.1  protein unc-13 homolog C isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is 2 aa shorter compared to isoform 1.
      Source sequence(s)
      AC010867, AC022302, AC034103, AC068711, AC084759
      Consensus CDS
      CCDS92002.1
      UniProtKB/TrEMBL
      A0A3B3ISZ1
      Related
      ENSP00000497525.1, ENST00000647821.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      53837602..54633440
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047432538.1 → XP_047288494.1  protein unc-13 homolog C isoform X1

      UniProtKB/Swiss-Prot
      Q0P613, Q8NB66, Q8ND48, Q96NP3

    2. XM_017022220.2 → XP_016877709.1  protein unc-13 homolog C isoform X1

      UniProtKB/Swiss-Prot
      Q0P613, Q8NB66, Q8ND48, Q96NP3
      Conserved Domains (5) summary
      cd04027
      Location:1220 → 1346
      C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins
      cd08395
      Location:2062 → 2181
      C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins
      cd00029
      Location:1098 → 1147
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
      pfam06292
      Location:1541 → 1646
      DUF1041; Domain of Unknown Function (DUF1041)
      pfam10540
      Location:1888 → 2024
      Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain

    3. XM_017022221.2 → XP_016877710.1  protein unc-13 homolog C isoform X1

      UniProtKB/Swiss-Prot
      Q0P613, Q8NB66, Q8ND48, Q96NP3
      Conserved Domains (5) summary
      cd04027
      Location:1220 → 1346
      C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins
      cd08395
      Location:2062 → 2181
      C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins
      cd00029
      Location:1098 → 1147
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
      pfam06292
      Location:1541 → 1646
      DUF1041; Domain of Unknown Function (DUF1041)
      pfam10540
      Location:1888 → 2024
      Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain

    4. XM_017022222.2 → XP_016877711.1  protein unc-13 homolog C isoform X1

      UniProtKB/Swiss-Prot
      Q0P613, Q8NB66, Q8ND48, Q96NP3
      Conserved Domains (5) summary
      cd04027
      Location:1220 → 1346
      C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins
      cd08395
      Location:2062 → 2181
      C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins
      cd00029
      Location:1098 → 1147
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
      pfam06292
      Location:1541 → 1646
      DUF1041; Domain of Unknown Function (DUF1041)
      pfam10540
      Location:1888 → 2024
      Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain

    5. XM_017022225.2 → XP_016877714.1  protein unc-13 homolog C isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      51647087..52443374
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377963.1 → XP_054233938.1  protein unc-13 homolog C isoform X1

    2. XM_054377965.1 → XP_054233940.1  protein unc-13 homolog C isoform X1

    3. XM_054377964.1 → XP_054233939.1  protein unc-13 homolog C isoform X1

    4. XM_054377966.1 → XP_054233941.1  protein unc-13 homolog C isoform X1

    5. XM_054377967.1 → XP_054233942.1  protein unc-13 homolog C isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NB66.3 GenPept UniProtKB/Swiss-Prot:Q8NB66

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