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Protein Coding Gene : Ncstn nicastrin

Primary Identifier  MGI:1891700 Organism  mouse, laboratory
Chromosome  1 NCBI Gene Number  59287
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Contributes to aspartic endopeptidase activity, intramembrane cleaving. Acts upstream of or within several processes, including amyloid precursor protein metabolic process; positive regulation of amyloid precursor protein biosynthetic process; and regulation of synaptic plasticity. Located in several cellular components, including Golgi apparatus; lysosome; and synaptic vesicle. Part of gamma-secretase complex. Is expressed in several structures, including brain and genitourinary system. Used to study chronic myeloid leukemia; schizophrenia; and urinary bladder cancer. Human ortholog(s) of this gene implicated in Alzheimer's disease; hidradenitis suppurativa; and schizophrenia. Orthologous to human NCSTN (nicastrin).
PHENOTYPE: Homozygous mutant embryos die exhibiting morphological defects of the somites, yolk sac vasculature, neural tube, and pericardial sacs. [provided by MGI curators]
  • synonyms:
  • Ncstn,
  • MGI:1915366,
  • 9430068N19Rik,
  • Nct,
  • RIKEN cDNA 9430068N19 gene,
  • AA727311,
  • MGI:1347057,
  • MGI:1888989,
  • D1Dau13e,
  • DNA segment, Chr 1, DA Underhill 13, expressed,
  • mKIAA0253,
  • nicastrin,
  • EST AA727311

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

2 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

21 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

0 Driver For