Jump to content

UNC13D

From Wikipedia, the free encyclopedia
UNC13D
Identifiers
AliasesUNC13D, FHL3, HLH3, HPLH3, Munc13-4, unc-13 homolog D
External IDsOMIM: 608897; MGI: 1917700; HomoloGene: 26714; GeneCards: UNC13D; OMA:UNC13D - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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

[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.

Clinical significance

[edit]

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

References

[edit]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000092929Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000057948Ensembl, 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. ^ a b "Entrez Gene: unc-13 homolog D (C. elegans)".

Further reading

[edit]
[edit]

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