UNC13D

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UNC13D
Identifiers
Aliases UNC13D, FHL3, HLH3, HPLH3, Munc13-4, unc-13 homolog D
External IDs OMIM: 608897 MGI: 1917700 HomoloGene: 26714 GeneCards: UNC13D
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_199242

NM_001009573

RefSeq (protein)

NP_954712

NP_001009573.2
NP_001009573

Location (UCSC) Chr 17: 75.83 – 75.84 Mb Chr 11: 116.06 – 116.08 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Protein unc-13 homolog D, also known as munc13-4, is a protein that in humans is encoded by the UNC13D gene.[3]

Function[edit]

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.[4]

Clinical significance[edit]

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

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ a b "Entrez Gene: unc-13 homolog D (C. elegans)". 
  4. ^ 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. 

Further reading[edit]

External links[edit]

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