Neurogenic locus notch homolog protein 4

From Wikipedia, the free encyclopedia
Jump to navigation Jump to search
NOTCH4
Identifiers
AliasesNOTCH4, INT3, notch 4, notch receptor 4
External IDsOMIM: 164951 MGI: 107471 HomoloGene: 3351 GeneCards: NOTCH4
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)[1]
Chromosome 6 (human)
Genomic location for NOTCH4
Genomic location for NOTCH4
Band6p21.32Start32,194,843 bp[1]
End32,224,067 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_004557

NM_010929

RefSeq (protein)

NP_004548

NP_035059

Location (UCSC)Chr 6: 32.19 – 32.22 MbChr 17: 34.56 – 34.59 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[5]

Gene[edit]

An alternative splice variant of the NOTCH4 gene has been described, but its biological significance has not been determined.[6]

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.[6]

Clinical significance[edit]

Mutations in the notch4 gene may be associated with susceptibility to schizophrenia in a small portion of cases.[7]

References[edit]

  1. ^ a b c ENSG00000238196, ENSG00000204301, ENSG00000232339, ENSG00000223355, ENSG00000235396, ENSG00000206312 GRCh38: Ensembl release 89: ENSG00000234876, ENSG00000238196, ENSG00000204301, ENSG00000232339, ENSG00000223355, ENSG00000235396, ENSG00000206312 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000015468 - 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. ^ 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.
  6. ^ a b "Entrez Gene: NOTCH4 Notch homolog 4 (Drosophila)".
  7. ^ 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]