UNC13A
Ensembl | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| UniProt | |||||||||
| RefSeq (mRNA) | |||||||||
| RefSeq (protein) | |||||||||
| Location (UCSC) | Chr 19: 17.6 – 17.69 Mb | Chr 8: 72.08 – 72.12 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
Unc-13 homolog A (C. elegans) is a protein that in humans is encoded by the UNC13A gene.[5]
Function
This gene encodes a member of the UNC13 family.
Protein structure
Several
conserved domains include three C2 domains. One C2 domain is centrally located, another is at the carboxyl end, and there is a third. In addition, there is one C1 domain, as well as Munc13 homology domains 1 (MHD1) and 2 (MHD2).[7][8]
Subcellular location
UNC13A is localized to the
phorbol ester binding.[7]
Interaction
UNC13A has been shown to
interact
with:
Clinical significance
ALS and FTD results in a cryptic exon being expressed in UNC13A, which is exercerbated by the single nucleotide polymorphisms associated with ALS and FTD risk.[13][14][15] This gene has also been associated with Alzheimer's disease (AD).[16]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000130477 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000034799 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "Entrez Gene: Unc-13 homolog A (C. elegant)".
- S2CID 8897877.
- ^ a b c d e f g h i j k "UNC13A - Protein unc-13 homolog A - Homo sapiens (Human) - UNC13A gene & protein". www.uniprot.org.
- ^ "NCBI Conserved Domain Search". www.ncbi.nlm.nih.gov. Retrieved 2016-05-06.
- S2CID 8659710.
- PMID 20942785.
- S2CID 38375893.
- PMID 24503148.
- PMID 35197626.
- PMID 35197628.
- PMID 24931836.
- S2CID 28216850.
Further reading
- Augustin I, Rosenmund C, Südhof TC, Brose N (July 1999). "Munc13-1 is essential for fusion competence of glutamatergic synaptic vesicles". Nature. 400 (6743): 457–461. S2CID 4364774.
- Betz A, Ashery U, Rickmann M, Augustin I, Neher E, Südhof TC, et al. (July 1998). "Munc13-1 is a presynaptic phorbol ester receptor that enhances neurotransmitter release". Neuron. 21 (1): 123–136. S2CID 15707959.
- Betz A, Thakur P, Junge HJ, Ashery U, Rhee JS, Scheuss V, et al. (April 2001). "Functional interaction of the active zone proteins Munc13-1 and RIM1 in synaptic vesicle priming". Neuron. 30 (1): 183–196. S2CID 155875.
- Huang CC, Yang DM, Lin CC, Kao LS (October 2011). "Involvement of Rab3A in vesicle priming during exocytosis: interaction with Munc13-1 and Munc18-1". Traffic. 12 (10): 1356–1370. PMID 21689256.
- Koch H, Hofmann K, Brose N (July 2000). "Definition of Munc13-homology-domains and characterization of a novel ubiquitously expressed Munc13 isoform". The Biochemical Journal. 349 (Pt 1): 247–253. PMID 10861235.
- Lavi A, Sheinin A, Shapira R, Zelmanoff D, Ashery U (September 2014). "DOC2B and Munc13-1 differentially regulate neuronal network activity". Cerebral Cortex. 24 (9): 2309–2323. PMID 23537531.
- Ohtsuka T, Takao-Rikitsu E, Inoue E, Inoue M, Takeuchi M, Matsubara K, et al. (August 2002). "Cast: a novel protein of the cytomatrix at the active zone of synapses that forms a ternary complex with RIM1 and munc13-1". The Journal of Cell Biology. 158 (3): 577–590. PMID 12163476.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
 | This article on a gene on human chromosome 19 is a stub. You can help Wikipedia by expanding it. |