Unc13c unc-13 homolog C [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Unc13cprovided by MGI
Official Full Name: unc-13 homolog Cprovided by MGI
Primary source: MGI:MGI:2149021
See related: Ensembl:ENSMUSG00000062151 AllianceGenome:MGI:2149021
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Unc13h3; Munc13-3; D9Ertd414e; 1500037O19Rik
Summary: Predicted to enable calmodulin binding activity and syntaxin-1 binding activity. Involved in negative regulation of synaptic plasticity and synaptic vesicle exocytosis. Acts upstream of or within chemical synaptic transmission. Is active in calyx of Held and parallel fiber to Purkinje cell synapse. Is expressed in several structures, including brain; limb interdigital region; molar; olfactory epithelium; and spinal cord mantle layer. Orthologous to human UNC13C (unc-13 homolog C). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in cerebellum adult (RPKM 10.0), cortex adult (RPKM 1.5) and 3 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 D; 9 40.8 cM

Exon count:: 36

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (73386704..73915421, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (73479422..74008155, complement)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Heterogeneous Presynaptic Distribution of Munc13 Isoforms at Retinal Synapses and Identification of an Unconventional Bipolar Cell Type with Dual Expression of Munc13 Isoforms: A Study Using Munc13-EXFP Knock-in Mice.
Title: Heterogeneous Presynaptic Distribution of Munc13 Isoforms at Retinal Synapses and Identification of an Unconventional Bipolar Cell Type with Dual Expression of Munc13 Isoforms: A Study Using Munc13-EXFP Knock-in Mice.
Munc13-3 regulates the density of Cav2.1 and Cav2.2 channels, alters the localization of Cav2.1, and is required for the development of tight, nanodomain coupling at parallel-fiber active zones.
Title: Munc13-3 Is Required for the Developmental Localization of Ca(2+) Channels to Active Zones and the Nanopositioning of Ca(v)2.1 Near Release Sensors.
We conclude that Munc13-3 is responsible for an additional step of molecular and/or positional "superpriming" that substantially increases the efficacy of Ca(2+)-triggered release.
Title: Munc13-3 superprimes synaptic vesicles at granule cell-to-basket cell synapses in the mouse cerebellum.
The composition of Munc13 isoforms in a neuron differentially controls its short-term synaptic plasticity characteristics.
Title: Nonconserved Ca(2+)/calmodulin binding sites in Munc13s differentially control synaptic short-term plasticity.
gene for critical period neuroplasticity in visual cortex
Title: Bidirectional regulation of Munc13-3 protein expression by age and dark rearing during the critical period in mouse visual cortex.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D9Mit123 (e-PCR), detects polymorphism
- UniSTS:116761

mHAa31g7.seq (e-PCR)
- UniSTS:125979

D9Mit341 (e-PCR), detects polymorphism
- UniSTS:131904

PMC30485P2 (e-PCR)
- UniSTS:272537

D9Ertd414e (e-PCR), detects polymorphism
- UniSTS:167618

RH136398 (e-PCR)
- UniSTS:210388

Gene Ontology Provided by MGI

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 calmodulin binding	ISO Inferred from Sequence Orthology more info
enables diacylglycerol binding	IEA Inferred from Electronic Annotation more info
enables non-kinase phorbol ester receptor activity	TAS Traceable Author Statement more info	PubMed
enables phospholipid binding	IEA Inferred from Electronic Annotation more info
enables syntaxin binding	ISO Inferred from Sequence Orthology more info
enables syntaxin-1 binding	IBA Inferred from Biological aspect of Ancestor more info
enables syntaxin-1 binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within chemical synaptic transmission	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in dense core granule priming	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of synaptic plasticity	IGI Inferred from Genetic Interaction more info	PubMed
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 exocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in synaptic vesicle exocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in synaptic vesicle priming	IBA Inferred from Biological aspect of Ancestor more info
involved_in synaptic vesicle priming	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in calyx of Held	IDA Inferred from Direct Assay more info	PubMed
located_in calyx of Held	IDA Inferred from Direct Assay more info	PubMed
located_in calyx of Held	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in neuromuscular junction	IBA Inferred from Biological aspect of Ancestor more info
is_active_in parallel fiber to Purkinje cell synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in parallel fiber to Purkinje cell synapse	IMP Inferred from Mutant Phenotype more info	PubMed
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
is_active_in presynapse	IDA Inferred from Direct Assay more info	PubMed
located_in presynapse	IDA Inferred from Direct Assay 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
located_in presynaptic membrane	IEA Inferred from Electronic Annotation more info
is_active_in synaptic vesicle membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in synaptic vesicle membrane	ISO Inferred from Sequence Orthology 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: unc13 homolog 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_001081153.2 → NP_001074622.1 protein unc-13 homolog C

Status: VALIDATED

Source sequence(s)

AC112267, AC124451, AC131722, AC132267, AC153359

Consensus CDS

CCDS40690.1

UniProtKB/Swiss-Prot

Q8K0T7

Related

ENSMUSP00000139027.2, ENSMUST00000184666.8

Conserved Domains (5) summary

cd04027
Location:1216 → 1342

C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins

cd08395
Location:2058 → 2177

C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins

cd00029
Location:1094 → 1143

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:1536 → 1642

DUF1041; Domain of Unknown Function (DUF1041)

pfam10540
Location:1884 → 2020

Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000075.7 Reference GRCm39 C57BL/6J

Range

73386704..73915421 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006510931.5 → XP_006510994.1 protein unc-13 homolog C isoform X1

Conserved Domains (5) summary

cd04027
Location:1216 → 1342

C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins

cd08395
Location:2068 → 2187

C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins

cd00029
Location:1094 → 1143

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:1536 → 1640

DUF1041; Domain of Unknown Function (DUF1041)

pfam10540
Location:1894 → 2030

Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
XM_006510934.5 → XP_006510997.1 protein unc-13 homolog C isoform X3

Conserved Domains (5) summary

cd04027
Location:1214 → 1340

C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins

cd08395
Location:2056 → 2175

C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins

cd00029
Location:1092 → 1141

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:1534 → 1638

DUF1041; Domain of Unknown Function (DUF1041)

pfam10540
Location:1882 → 2018

Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
XM_006510932.5 → XP_006510995.1 protein unc-13 homolog C isoform X2

Conserved Domains (5) summary

cd04027
Location:1214 → 1340

C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins

cd08395
Location:2066 → 2185

C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins

cd00029
Location:1092 → 1141

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:1534 → 1638

DUF1041; Domain of Unknown Function (DUF1041)

pfam10540
Location:1892 → 2028

Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
XM_006510928.5 → XP_006510991.1 protein unc-13 homolog C isoform X1

Conserved Domains (5) summary

cd04027
Location:1216 → 1342

C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins

cd08395
Location:2068 → 2187

C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins

cd00029
Location:1094 → 1143

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:1536 → 1640

DUF1041; Domain of Unknown Function (DUF1041)

pfam10540
Location:1894 → 2030

Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
XM_006510929.5 → XP_006510992.1 protein unc-13 homolog C isoform X1

Conserved Domains (5) summary

cd04027
Location:1216 → 1342

C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins

cd08395
Location:2068 → 2187

C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins

cd00029
Location:1094 → 1143

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:1536 → 1640

DUF1041; Domain of Unknown Function (DUF1041)

pfam10540
Location:1894 → 2030

Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_153531.1: Suppressed sequence

Description

NM_153531.1: This RefSeq record was removed by NCBI staff. Contact [email protected] for further information.