Neurogenic locus notch homolog protein 4

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Notch 4
Identifiers
Symbols NOTCH4 ; INT3
External IDs OMIM164951 MGI107471 HomoloGene3351 GeneCards: NOTCH4 Gene
Orthologs
Species Human Mouse
Entrez 4855 18132
Ensembl ENSG00000204301 ENSMUSG00000015468
UniProt Q99466 P31695
RefSeq (mRNA) NM_004557 NM_010929
RefSeq (protein) NP_004548 NP_035059
Location (UCSC) Chr 6:
32.16 – 32.19 Mb
Chr 17:
34.56 – 34.59 Mb
PubMed search [1] [2]

Neurogenic locus notch homolog 4 also known as notch 4 is a protein that in humans is encoded by the NOTCH4 gene located on chromosome 6.[1]

Gene[edit]

An alternative splice variant of the NOTCH4 gene has been described, but its biological significance has not been determined.[2]

Structure[edit]

The neurogenic locus notch homolog 4 protein is a member of the Notch family. Members of this type 1 transmembrane protein family share structural characteristics. These include an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain that consists of multiple, but different, domain types.

Function[edit]

Notch protein family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling pathway is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells

In Drosophilia, notch interacts with its cell-bound ligands (delta and serrate), and establishes an intercellular signaling pathway that then plays a key role in development. Homologues of the notch-ligands have also been identified in humans, but precise interactions between these ligands and the human notch homologues remain to be determined. The notch protein is cleaved in the trans-Golgi network, and then presented on the cell surface as a heterodimer. The protein functions as a receptor for membrane bound ligands, and may play a role in vascular, renal, and hepatic development.[2]

Clinical significance[edit]

Mutations in the notch4 gene may be associated with susceptibility to schizophrenia in a small portion of cases.[3]

References[edit]

  1. ^ Sugaya K, Fukagawa T, Matsumoto K, Mita K, Takahashi E, Ando A, Inoko H, Ikemura T (Feb 1995). "Three genes in the human MHC class III region near the junction with the class II: gene for receptor of advanced glycosylation end products, PBX2 homeobox gene and a notch homolog, human counterpart of mouse mammary tumor gene int-3". Genomics 23 (2): 408–19. doi:10.1006/geno.1994.1517. PMID 7835890. 
  2. ^ a b "Entrez Gene: NOTCH4 Notch homolog 4 (Drosophila)". 
  3. ^ Shayevitz C, Cohen OS, Faraone SV, Glatt SJ (July 2012). "A re-review of the association between the NOTCH4 locus and schizophrenia". Am. J. Med. Genet. B Neuropsychiatr. Genet. 159B (5): 477–83. doi:10.1002/ajmg.b.32050. PMID 22488909. 

Further reading[edit]