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FLASH GENE
Symbol NUP107 contributors: mct - updated : 14-11-2015
HGNC name nucleoporin 107kDa
HGNC id 29914
Corresponding disease
SRN6 steroid-resistant nephrotic syndrome 6
XXGD2 XX gonadal dysgenesis 2
Location 12q15      Physical location : 69.080.730 - 69.136.472
Synonym symbol(s) NUP84
DNA
TYPE functioning gene
STRUCTURE 55.74 kb     28 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
HGT2 12q14.3 protein tyrosine phosphatase, receptor type, R TIP120A 12q14 protein tyrosine phosphatase, receptor type, R LOC390341 12 similar to nuclear localization signal containing protein deleted in Velo-Cardio-Facial syndrome DYRK2 12q14.3 dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2 LOC341333 12q14.3 similar to Heterogeneous nuclear ribonucleoprotein A1 (Helix-destabilizing protein) (Single-strand binding protein) (hnRNP core protein A1) IFNG 12q14-q15 interferon, gamma IL26 12q15 interleukin 26 IL22 12q15 interleukin 22 MDM1 12q14.3 nuclear protein double minute 1 LOC160410 12q14.3 proteasome (prosome, macropain) 26S subunit, ATPase, 6 pseudogene LOC387867 12 similar to 40S ribosomal protein SA (P40) (34/67 kDa laminin receptor) (Colon carcinoma laminin-binding protein) (NEM/1CHD4) (Multidrug resistance-associated protein MGr1-Ag) RAP1B 12q14 RAP1B, member of RAS oncogene family LOC246723 12q14 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit d pseudogene NUP107 12q14.3 nuclear pore complex protein SLC35E3 12q15 solute carrier family 35, member E2 PRO2268 12q14.3 hypothetical protein PRO2268 MDM2 12q14.3-q15 Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) MGC5370 12q14.3 hypothetical protein MGC5370 CPM 12q15 carboxypeptidase M CPSF6 12q13.2 cleavage and polyadenylation specific factor 6, 68kDa LYZ 12q14-q15 lysozyme (renal amyloidosis) GAS41 12q13-q15 lysozyme (renal amyloidosis) FRS2 12q15 fibroblast growth factor receptor substrate 2 CCT2 12q15 chaperonin containing TCP1, subunit 2 (beta) LOC387868 12 similar to leucine-rich repeat-containing 10; leucine-rich repeat protein; leucine-rich containing 10 VMD2L3 12q14.2-q15 similar to leucine-rich repeat-containing 10; leucine-rich repeat protein; leucine-rich containing 10 MGC13168 12q14.3 hypothetical protein MGC13168 RAB3IP 12q13-q15 RAB3A interacting protein (rabin3) FLJ25056 12q14.3 hypothetical protein FLJ25056 CNOT2 12q13.2 CCR4-NOT transcription complex, subunit 2 KCNMB4 12q14.1-q15 potassium large conductance calcium-activated channel, subfamily M, beta member 4 LOC390342 12 similar to Gag-Pro-Pol-Env protein PTPRB 12q15 protein tyrosine phosphatase, receptor type, B PTPRR 12q13.2-q13.3 protein tyrosine phosphatase, receptor type, R
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
28 - 3158 107 925 - Bastos (1997)
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Respiratorylung    
Urinarykidneynephronrenal capsuleglomerulus  Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Urinarypodocyte Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies homolog to murine Nup107 (91.5pc)
homolog to rattus Nup107 (91.8pc)
Homologene
FAMILY
  • nucleoporin Nup84/Nup107 family
  • CATEGORY structural protein , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    intracellular,nucleus,chromatin/chromosome,kinetochore
    intracellular,nuclear envelope,pore
    text
  • cytoplasmic and nuclear sides of the nuclear pores
  • localized to the kinetochores during mitosis (Loiodice 2004)
  • remain incorporated in the nuclear membrane during the entire cellular life span (D'Angelo 2009)
  • within the nucleoplasm, a fraction of NUP107, a key component of the Y-complex, displays reduced mobility, suggesting interaction with other nuclear component
  • distributed in a speckle-like pattern in the nuclei of human podocytes surrounding the glomerular capillary tufts
  • basic FUNCTION
  • required for the assembly of peripheral proteins into the nuclear pore complex
  • involved in RNA export and in tethering NUP98 and NUP153 to the nucleus
  • involved in proper kinetochore functions (Zuccolo 2007)
  • facilitates the efficient transfer of macromolecules between the nucleus and cytoplasm in a highly selective manner and plays pivotal roles in the nuclear framework and gene expression
  • with NUP133, form elongated structures that interact tightly via a compact interface in tail-to-tail fashion
  • key scaffold protein in nuclear pore complex assembly
  • may contribute significantly to the regulation of cell fate in aged and transformed cells by modulating nuclear trafficking of signal molecules
  • critical regulator of the DNA damage-induced intra-S phase checkpoint response, involved in DNA damage-induced nuclear translocation of APAF1
  • likely has an important function for renal filtration in human podocytes
  • pivotal role for NUP107 in ovarian development
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • part of the Nup160 subcomplex which is composed of NUP160, NUP133, NUP107 and NUP96
  • age-related deterioration of the complex is involved in increase in nuclear permeability and the leaking of cytoplasmic proteins into the nucleus (D'Angelo 2009)
  • NUP107-160 complex interacts with CENPF, but CENPF only moderately contributes to its targeting to kinetochores
  • KPNB1 forms a high-molecular-weight complex with both AHCTF1 and the NUP107-160 complex in cytosol
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • NUP107-160 interacts with the gamma-tubulin ring complex (gamma-TuRC), an essential and conserved microtubule nucleator, and recruits gamma-TuRC to unattached kinetochores
  • unexpected connection with the mitotic spindle assembly checkpoint protein MAD1L1
  • APAF1 associates with the nucleoporin NUP107 and this association is necessary for APAF1 nuclear import
  • NUP107 interacts with NUP133 via its C-terminal tail
  • cell & other
    REGULATION
    Other phosphorylated upon DNA damage probably by ATM or ATR (Glavy 2007)
    ASSOCIATED DISORDERS
    corresponding disease(s) SRN6 , XXGD2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • in Drosophila, Nup107 knockdown in somatic gonadal cells resulted in female sterility, whereas males were fully fertile