About   Help   FAQ
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
  • Alliance
    gene page
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:107225244-107273543 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 50.18 cM, cytoband C7
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1376 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1920037
 protein coding gene Chr4:107224981-107273543 (+)
129S1/SvImJ MGP_129S1SvImJ_G0028539
 protein coding gene Chr4:108059701-108108167 (+)
A/J MGP_AJ_G0028502
 protein coding gene Chr4:104179679-104229110 (+)
AKR/J MGP_AKRJ_G0028449
 protein coding gene Chr4:106743131-106796805 (+)
BALB/cJ MGP_BALBcJ_G0028521
 protein coding gene Chr4:104372412-104422148 (+)
C3H/HeJ MGP_C3HHeJ_G0028235
 protein coding gene Chr4:107486559-107536537 (+)
C57BL/6NJ MGP_C57BL6NJ_G0028961
 protein coding gene Chr4:111936737-111985232 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0026252
 protein coding gene Chr4:99463014-99511545 (+)
CAST/EiJ MGP_CASTEiJ_G0027671
 protein coding gene Chr4:105303762-105355990 (+)
CBA/J MGP_CBAJ_G0028204
 protein coding gene Chr4:115572139-115632022 (+)
DBA/2J MGP_DBA2J_G0028352
 protein coding gene Chr4:103803157-103853785 (+)
FVB/NJ MGP_FVBNJ_G0028320
 protein coding gene Chr4:102671122-102722228 (+)
LP/J MGP_LPJ_G0028453
 protein coding gene Chr4:108252531-108306572 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0028346
 protein coding gene Chr4:120852853-120906096 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0028997
 protein coding gene Chr4:106977015-107029821 (+)
PWK/PhJ MGP_PWKPhJ_G0027397
 protein coding gene Chr4:102049262-102100774 (+)
SPRET/EiJ MGP_SPRETEiJ_G0027221
 protein coding gene Chr4:104366083-104413731 (+)
WSB/EiJ MGP_WSBEiJ_G0027752
 protein coding gene Chr4:107153772-107208508 (+)



Homology
more
  • Human Ortholog
    NDC1, NDC1 transmembrane nucleoporin
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NDC1, NDC1 transmembrane nucleoporin
  • Synonyms
    NET3, TMEM48
  • Links
    NCBI Gene ID: 55706
    neXtProt AC: NX_Q9BTX1
    UniProt: Q9BTX1

  • Chr Location
    1p32.3; chr1:53765478-53838463 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    16 phenotypes from 1 allele in 1 genetic background
    15 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.
Mutations in this gene produce background sensitive growth rates and skeletal anomalies. Both females and males are sterile.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    26
  • GO References
    8
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
non-membrane-bounded 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
    781
  • Tissues
    23
  • cDNA Data
    9
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 72787 NCBI Gene Model | MGI Sequence Detail 48300 C57BL/6J ±  kb
    transcript NR_165083 RefSeq | MGI Sequence Detail 4575 C57BL/6  
    polypeptide Q8VCB1 UniProt | EBI | MGI Sequence Detail 673 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 10
      cDNA 9
      Primer pair 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-14433, MGI:2140289, MGI:98313
    References
    more
    • Summaries
      All 44
      Developmental Gene Expression 2
      Gene Ontology 8
      Phenotypes 15
    • Earliest
      J:9569 Handel MA, et al., New mutation causing sterility in the mouse. Gamete Res. 1988 Dec;21(4):409-23
    • Latest
      J:319412 Lai TH, et al., SEPT12-NDC1 Complexes Are Required for Mammalian Spermiogenesis. Int J Mol Sci. 2016 Nov 16;17(11):1911
    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
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    10/29/2024
    MGI 6.24     		The Jackson Laboratory