UNC13D
Identifiers
AliasesUNC13D, FHL3, HLH3, HPLH3, Munc13-4, unc-13 homolog D
External IDsOMIM: 608897 MGI: 1917700 HomoloGene: 26714 GeneCards: UNC13D
Orthologs
SpeciesHumanMouse
Entrez

201294

70450

Ensembl

ENSG00000092929

ENSMUSG00000057948

UniProt

Q70J99

B2RUP2

RefSeq (mRNA)

NM_199242

NM_001009573

RefSeq (protein)

NP_954712

NP_001009573

Location (UCSC)Chr 17: 75.83 – 75.84 MbChr 11: 115.95 – 115.97 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Protein unc-13 homolog D, also known as munc13-4, is a protein that in humans is encoded by the UNC13D gene.[5]

Function

Munc13-4 is a member of the UNC13 family, containing similar domain structure as other family members but lacking an N-terminal phorbol ester-binding C1 domain present in other Munc13 proteins. The protein appears to play a role in vesicle maturation during exocytosis and is involved in regulation of cytolytic granules secretion.

Munc13-4 is an essential protein in the intracellular trafficking and exocytosis of lytic granules. It is targeted to CD63 positive secretory lysosomes. The C-terminal C2 domain of the protein is involved in this process.[6]

Clinical significance

Mutations in the UNC13D gene are associated with hemophagocytic lymphohistiocytosis type 3.[5]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000092929 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000057948 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 1 2 "Entrez Gene: unc-13 homolog D (C. elegans)".
  6. Elstak ED, Te Loo M, Tesselaar K, van Kerkhof P, Loeffen J, Grivas D, Hennekam E, Boelens JJ, Hoogerbrugge PM, van der Sluijs P, van Gijn ME, van de Corput L (July 2011). "A novel Dutch mutation in UNC13D reveals an essential role of the C2B domain in munc13-4 function". Pediatr Blood Cancer. 58 (4): 598–605. doi:10.1002/pbc.23253. PMID 21755595. S2CID 21789882.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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