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

Gene ID: 440279, updated on 3-Nov-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 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, Nov 2024]
Expression
Biased expression in brain (RPKM 3.2), thyroid (RPKM 0.4) and 4 other tissues See more
Orthologs
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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_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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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. Prognostic and Clinical Implications of UNC13C expression in Hepatocellular Carcinoma Patients. Kumar VB, et al. Int J Med Sci, 2023. PMID 37575271, Free PMC Article
  2. 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
  3. 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
  4. 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
  5. Genome-wide association study of antibody response to smallpox vaccine. Ovsyannikova IG, et al. Vaccine, 2012 Jun 13. PMID 22542470, Free PMC Article

See all (17) 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_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_047432538.1 → 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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