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Ndc1 Gene Detail
Summary
  • Symbol
    Ndc1
  • Name
    NDC1 transmembrane nucleoporin
  • Synonyms
    2810475A17Rik, sks, Tmem48
  • Feature Type
    protein coding gene
  • IDs
    MGI:1920037
    NCBI Gene: 72787
  • Gene Overview
    MyGene.info: NDC1
Location & Maps
more
  • Sequence Map
    Chr4:107367784-107416346 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      48563 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 50.18 cM, cytoband C7
  • Mapping Data
    6 experiments
Homology
more
  • Human Ortholog
    NDC1, NDC1 transmembrane nucleoporin
  • Vertebrate Orthologs
    9
  • Human Ortholog
    NDC1, NDC1 transmembrane nucleoporin
    Orthology source: HomoloGene
  • Synonyms
    NET3, TMEM48
  • Links
    NCBI Gene ID: 55706
    neXtProt AC: NX_Q9BTX1

  • Chr Location
    1p32.3; chr1:53765460-53838552 (-)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    16 phenotypes from 1 allele in 1 genetic background
    14 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.
  • All Mutations and Alleles
    23
  • Chemically induced (other)
    2
  • Gene trapped
    18
  • Radiation induced
    1
  • Spontaneous
    1
  • Targeted
    1
  • Genomic Mutations
    4 involving Ndc1
  • Incidental Mutations
Mutations in this gene produce background sensitive growth rates and skeletal anomalies. Both females and males are sterile.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000008842 VEGA Gene Model | MGI Sequence Detail 48563 C57BL/6J ±  kb
transcript OTTMUST00000020102 VEGA | MGI Sequence Detail 4584 Not Applicable  
polypeptide OTTMUSP00000009215 VEGA | MGI Sequence Detail 673 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    402 from dbSNP Build 142
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000016430 nucleoporin NDC1
  • InterPro Domains
    IPR019049 Nucleoporin protein Ndc1-Nup
Molecular
Reagents
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  • All nucleic 7
    cDNA 7

    Microarray probesets 6
Other
Accession IDs
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MGD-MRK-14433, MGI:2140289, MGI:98313
References
more
  • Summaries
    All 32
    Developmental Gene Expression 2
    Gene Ontology 4
    Phenotypes 14
  • Earliest
    J:9569 Handel MA, et al., New mutation causing sterility in the mouse. Gamete Res. 1988 Dec;21(4):409-23
  • Latest
    J:226028 Lewandowski JP, et al., Spatiotemporal regulation of GLI target genes in the mammalian limb bud. Dev Biol. 2015 Oct 1;406(1):92-103

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
07/19/2016
MGI 6.04
The Jackson Laboratory