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

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, Nov 2024]
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

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_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Prognostic and Clinical Implications of UNC13C expression in Hepatocellular Carcinoma Patients.
Title: Prognostic and Clinical Implications of UNC13C expression in Hepatocellular Carcinoma Patients.
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.
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.
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.
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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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 EBI GWAS CatalogPubMed
Genome-wide association study of age at menarche in African-American women. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of antibody response to smallpox vaccine. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association with select biomarker traits in the Framingham Heart Study. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH1643 (e-PCR)
- UniSTS:45065

WI-20508 (e-PCR)
- UniSTS:6703

STS-Z41286 (e-PCR)
- UniSTS:60757

fb57b01 (e-PCR)
- UniSTS:187223

SHGC-82532 (e-PCR)
- UniSTS:100701

SHGC-82558 (e-PCR)
- UniSTS:100704

SHGC-81502 (e-PCR)
- UniSTS:103529

REN61901 (e-PCR)
- UniSTS:386701

SHGC-80909 (e-PCR)
- UniSTS:102548

SHGC-147375 (e-PCR)
- UniSTS:175778

D15S1282 (e-PCR)
- UniSTS:43686

SHGC-142463 (e-PCR)
- UniSTS:171471

D15S1315 (e-PCR)
- UniSTS:27098

REN109087 (e-PCR)
- UniSTS:433883

G65711 (e-PCR)
- UniSTS:225508

RH94172 (e-PCR)
- UniSTS:92395

RH77836 (e-PCR)
- UniSTS:67825

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)

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
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

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

53837602..54633440

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

Q0P613, Q8NB66, Q8ND48, Q96NP3
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
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
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
XM_017022225.2 → XP_016877714.1 protein unc-13 homolog C isoform X2