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FLASH GENE
Symbol NDC1 contributors: mct/pgu - updated : 13-12-2017
HGNC name NDC1 transmembrane nucleoporin
HGNC id 25525
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
18 - 2541 - 674 - 2016 27854341
18 - 4720 - 634 - 2016 27854341
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Reproductivemale systemtestis    Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Reproductivespermatozoa Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
HOMOLOGY
interspecies homolog to murine Tmem48 (87.6pc)
homolog to rattus Tmem48 (87.5pc)
Homologene
FAMILY
  • NDC1 family
  • CATEGORY transport
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,nuclear envelope,pore
    text
  • colocalized with NUP62 at the nuclear rim
  • in mature human spermatozoa, SEPT12 and NDC1 are majorly colocalized in the centrosome regions; however, NDC1 is only slightly co-expressed with SEPT12 at the annulus of the sperm tail
  • basic FUNCTION
  • its function involves forming a link between the nuclear envelope membrane and soluble nucleoporins, thereby anchoring the nuclear pore complexes in the membrane.
  • transmembrane nucleoporin required for NPC assembly and nucleocytoplasmic transport
  • is a nuclear membrane protein comprising the nuclear pore complex, and likely the nuclear pore complex plays an important role in mammalian gametogenesis and skeletal development
  • NDC1 is a major nuclear pore protein, and is critical for nuclear pore complex assembly and nuclear morphology maintenance in mammalian cells
  • after spindle pole body (SPB) insertion, membrane-associated proteins including the conserved NDC1 encircle the SPB and retain it within the nuclear envelope (NE)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of NPC which plays a key role in de novo assembly and insertion of NPC in the nuclear envelope
  • SEPT12-NDC1 complexes are involved in mammalian spermiogenesis
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with NUP35/NUP53
  • potential functional link between TMEM48 and the soluble nucleoporins NUP93, NUP35, and NUP205
  • capture of AT-rich chromatin by AHCTF1 recruits POM121 and NDC1 to initiate nuclear pore assembly
  • interacting with AAAS, required for AAAS targeting to NPC
  • interaction between NUP35 and the integral pore membrane protein NDC1 is essential for vertebrate nuclear pore complexes (NPCs) assembly
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --other  
    alterations in specific proteins (NDC1, NUP160, NUP153 and NUP93) in ischaemic and dilated human heart
    Susceptibility
    Variant & Polymorphism
    Candidate gene abrogation of the interaction between AAAS and TMEM48 may be important for the development of triple-A syndrome
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Tmem48 mutation is responsible for the gametogenesis defects and skeletal malformations in the sks mice