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Ncstn Gene Detail
Summary
  • Symbol
    Ncstn
  • Name
    nicastrin
  • Synonyms
    9430068N19Rik, D1Dau13e, mKIAA0253, Nct, nicastrin
  • Feature Type
    protein coding gene
  • IDs
    MGI:1891700
    NCBI Gene: 59287
  • Gene Overview
    MyGene.info: NCSTN
  • Alliance
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:172066013-172082749 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 79.54 cM
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    176 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1891700
protein coding gene Chr1:172066013-172082795 (-)
129S1/SvImJ MGP_129S1SvImJ_G0016776
protein coding gene Chr1:177913493-177932087 (-)
A/J MGP_AJ_G0016755
protein coding gene Chr1:170633034-170649877 (-)
AKR/J MGP_AKRJ_G0016721
protein coding gene Chr1:175788791-175807887 (-)
BALB/cJ MGP_BALBcJ_G0016716
protein coding gene Chr1:171180640-171197474 (-)
C3H/HeJ MGP_C3HHeJ_G0016540
protein coding gene Chr1:176365481-176382301 (-)
C57BL/6NJ MGP_C57BL6NJ_G0017178
protein coding gene Chr1:183819410-183837671 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0014884
protein coding gene Chr1:162337639-162354952 (-)
CAST/EiJ MGP_CASTEiJ_G0016120
protein coding gene Chr1:175718756-175742166 (-)
CBA/J MGP_CBAJ_G0016514
protein coding gene Chr1:190356921-190373782 (-)
DBA/2J MGP_DBA2J_G0016621
protein coding gene Chr1:169571340-169588985 (-)
FVB/NJ MGP_FVBNJ_G0016618
protein coding gene Chr1:167825124-167841885 (-)
LP/J MGP_LPJ_G0016692
protein coding gene Chr1:178999162-179019094 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0016645
protein coding gene Chr1:197620858-197640000 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0017214
protein coding gene Chr1:175655586-175672415 (-)
PWK/PhJ MGP_PWKPhJ_G0015906
protein coding gene Chr1:168942562-168960719 (-)
SPRET/EiJ MGP_SPRETEiJ_G0015688
protein coding gene Chr1:174580995-174613090 (-)
WSB/EiJ MGP_WSBEiJ_G0016182
protein coding gene Chr1:175809696-175827803 (-)



Homology
more
  • Human Ortholog
    NCSTN, nicastrin
  • Vertebrate Orthologs
    10
  • Human Ortholog
    NCSTN, nicastrin
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ATAG1874
  • Links
    NCBI Gene ID: 23385
    neXtProt AC: NX_Q92542
    UniProt: Q92542

  • Chr Location
    1q23.2; chr1:160343056-160358952 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 41029
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: NCSTN
  • Gene Tree
Human Diseases
more
  • Diseases
    3 with Ncstn mouse models; 1 with human NCSTN associations

Human Disease Mouse Models
      
IDs
View 2 models
IDs
View 1 model
IDs
View 2 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    57 phenotypes from 7 alleles in 9 genetic backgrounds
    10 phenotypes from multigenic genotypes
    1 images
    26 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygous mutant embryos die exhibiting morphological defects of the somites, yolk sac vasculature, neural tube, and pericardial sacs.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 59287 NCBI Gene Model | MGI Sequence Detail 16737 C57BL/6J ±  kb
    transcript NM_021607 RefSeq | MGI Sequence Detail 2864 C57BL/6  
    polypeptide P57716 UniProt | EBI | MGI Sequence Detail 708 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 169
      Genomic 14
      cDNA 154
      Primer pair 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1347057, MGI:1888989, MGI:1915366
    References
    more
    • Summaries
      All 86
      Developmental Gene Expression 12
      Diseases 3
      Gene Ontology 16
      Phenotypes 26
    • Earliest
      J:52853 Underhill DA, et al., Physical delineation of a 700-kb region overlapping the Looptail mutation on mouse chromosome 1. Genomics. 1999 Jan 15;55(2):185-93
    • Latest
      J:236499 Liu L, et al., Neuronal expression of ILEI/FAM3C and its reduction in Alzheimer's disease. Neuroscience. 2016 Aug 25;330:236-46

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory