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

Gene ID: 440279, updated on 26-Oct-2022

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 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
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Genomic context

Location:
15q21.3
Exon count:
39
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (53837602..54633440)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (51788239..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 RNA, U6 small nuclear 449, pseudogene Neighboring gene uncharacterized LOC105370827 Neighboring gene uncharacterized LOC124903495 Neighboring gene intraflagellar transport 80 homolog (Chlamydomonas) pseudogene Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 74 Neighboring gene uncharacterized LOC105370829 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

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
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
PubMed 
involved_in negative regulation of synaptic plasticity IEA
Inferred from Electronic Annotation
more info
 
involved_in neuromuscular junction development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in presynaptic dense core vesicle exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in synaptic transmission, glutamatergic IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in synaptic vesicle docking IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in synaptic vesicle maturation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in synaptic vesicle priming IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
is_active_in presynaptic membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in synaptic vesicle membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in terminal bouton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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_001080534.3NP_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
    Q8NB66, 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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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
    Q96NP3
  2. XM_017022220.2XP_016877709.1  protein unc-13 homolog C isoform X1

    UniProtKB/Swiss-Prot
    Q8NB66, 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
    Q8NB66, 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
    Q8NB66, 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
    51788239..52443374
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)