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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
  • Alliance
    gene page
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:171893580-171910356 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 79.54 cM
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    449 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 Chr1:171893580-171910362 (-)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NCSTN, nicastrin
  • Synonyms
    ATAG1874
  • Links
    NCBI Gene ID: 23385
    neXtProt AC: NX_Q92542
    UniProt: Q92542

  • Chr Location
    1q23.2; chr1:160343294-160358952 (+)  GRCh38
Human Diseases
more
  • Diseases
    3 with Ncstn mouse models; 3 with human NCSTN associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
 View 2 models
IDs
 View 2 models
      
IDs
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
    31 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
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
    97
  • GO References
    32
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    761
  • Tissues
    30
  • cDNA Data
    154
  • Literature Summary
    15
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 59287 NCBI Gene Model | MGI Sequence Detail 16777 C57BL/6J ±  kb
    transcript NM_021607 RefSeq | MGI Sequence Detail 2864 ZRU/MplStud  
    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 104
      Developmental Gene Expression 15
      Diseases 3
      Gene Ontology 32
      Phenotypes 31
    • 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:321806 Dave JM, et al., JAGGED1/NOTCH3 activation promotes aortic hypermuscularization and stenosis in elastin deficiency. J Clin Invest. 2022 Mar 1;132(5):e142338
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory