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

    Gene ID: 440279, updated on 10-Dec-2024

    Summary

    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 glutamatergic synaptic transmission and regulated exocytosis. 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 synaptic vesicle membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in brain (RPKM 3.2), thyroid (RPKM 0.4) and 4 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See UNC13C in Genome Data Viewer
    Location:
    15q21.3
    Exon count:
    39
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (53837602..54633440)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (51647087..52443374)
    RS_2024_09 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (10 hits/1252 screens)

    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

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • DKFZp547H074

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding  
    enables calmodulin binding  
    enables diacylglycerol binding  
    enables phospholipid binding  
    enables syntaxin-1 binding  
    Process Evidence Code Pubs
    involved_in chemical synaptic transmission  
    involved_in dense core granule priming  
    involved_in negative regulation of synaptic plasticity  
    involved_in presynaptic dense core vesicle exocytosis  
    involved_in synaptic transmission, glutamatergic  
    involved_in synaptic vesicle docking  
    involved_in synaptic vesicle priming  
    Component Evidence Code Pubs
    located_in calyx of Held  
    is_active_in neuromuscular junction  
    located_in parallel fiber to Purkinje cell synapse  
    is_active_in plasma membrane  
    located_in plasma membrane  
    located_in presynaptic active zone PubMed 
    is_active_in presynaptic active zone cytoplasmic component  
    is_active_in presynaptic membrane  
    is_active_in synaptic vesicle membrane  
    is_active_in terminal bouton  

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001080534.3NP_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:12201346
      C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins
      cd08395
      Location:20622181
      C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins
      cd00029
      Location:10981147
      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:15411646
      DUF1041; Domain of Unknown Function (DUF1041)
      pfam10540
      Location:18882024
      Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
    2. NM_001329919.2NP_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_2024_08

    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_047432538.1XP_047288494.1  protein unc-13 homolog C isoform X1

      UniProtKB/Swiss-Prot
      Q0P613, Q8NB66, Q8ND48, Q96NP3
    2. XM_017022220.2XP_016877709.1  protein unc-13 homolog C isoform X1

      UniProtKB/Swiss-Prot
      Q0P613, Q8NB66, Q8ND48, Q96NP3
      Conserved Domains (5) summary
      cd04027
      Location:12201346
      C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins
      cd08395
      Location:20622181
      C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins
      cd00029
      Location:10981147
      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:15411646
      DUF1041; Domain of Unknown Function (DUF1041)
      pfam10540
      Location:18882024
      Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
    3. XM_017022221.2XP_016877710.1  protein unc-13 homolog C isoform X1

      UniProtKB/Swiss-Prot
      Q0P613, Q8NB66, Q8ND48, Q96NP3
      Conserved Domains (5) summary
      cd04027
      Location:12201346
      C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins
      cd08395
      Location:20622181
      C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins
      cd00029
      Location:10981147
      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:15411646
      DUF1041; Domain of Unknown Function (DUF1041)
      pfam10540
      Location:18882024
      Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
    4. XM_017022222.2XP_016877711.1  protein unc-13 homolog C isoform X1

      UniProtKB/Swiss-Prot
      Q0P613, Q8NB66, Q8ND48, Q96NP3
      Conserved Domains (5) summary
      cd04027
      Location:12201346
      C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins
      cd08395
      Location:20622181
      C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins
      cd00029
      Location:10981147
      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:15411646
      DUF1041; Domain of Unknown Function (DUF1041)
      pfam10540
      Location:18882024
      Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
    5. XM_017022225.2XP_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_054377963.1XP_054233938.1  protein unc-13 homolog C isoform X1

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

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

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

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

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