Description: Homo sapiens nucleoporin 93kDa (NUP93), transcript variant 1, mRNA. RefSeq Summary (NM_014669): The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. This gene encodes a nucleoporin protein that localizes both to the basket of the pore and to the nuclear entry of the central gated channel of the pore. The encoded protein is a target of caspase cysteine proteases that play a central role in programmed cell death by apoptosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]. Transcript (Including UTRs) Position: hg19 chr16:56,764,017-56,878,861 Size: 114,845 Total Exon Count: 22 Strand: + Coding Region Position: hg19 chr16:56,782,160-56,878,521 Size: 96,362 Coding Exon Count: 21
ID:NUP93_HUMAN DESCRIPTION: RecName: Full=Nuclear pore complex protein Nup93; AltName: Full=93 kDa nucleoporin; AltName: Full=Nucleoporin Nup93; FUNCTION: Part of the nucleoporin complex; required for correct nuclear pore assembly. SUBUNIT: Component of the p62 complex, a complex composed of NUP62 and NUP54. Forms a complex with NUP53, NUP155, NUP205 and lamin B; the interaction with NUP53 is direct. SUBCELLULAR LOCATION: Nucleus, nuclear pore complex. Nucleus membrane; Peripheral membrane protein (By similarity). Note=Localizes at the nuclear basket and at or near the nuclear entry to the gated channel of the pore. SIMILARITY: Belongs to the nucleoporin interacting component (NIC) family. SEQUENCE CAUTION: Sequence=BAA07680.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Body Mass Index Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics.
[PubMed 17903300]
Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
Body Weight Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics.
[PubMed 17903300]
Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
HDL cholesterol Ridker ,et al. 2009, Polymorphism in the CETP Gene Region, HDL Cholesterol, and Risk of Future Myocardial Infarction: Genomewide Analysis Among 18 245 Initially Healthy Women From the Women's Genome Health Study, Circulation. Cardiovascular genetics 2009 2- 1 : 26-33.
[PubMed 20031564]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q8N1F7
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0005515 protein binding GO:0017056 structural constituent of nuclear pore
Biological Process: GO:0006406 mRNA export from nucleus GO:0006998 nuclear envelope organization GO:0015031 protein transport GO:0016032 viral process GO:0016973 poly(A)+ mRNA export from nucleus GO:0051028 mRNA transport GO:0051292 nuclear pore complex assembly GO:0060391 positive regulation of SMAD protein import into nucleus GO:0060395 SMAD protein signal transduction GO:0072001 renal system development GO:0072015 glomerular visceral epithelial cell development GO:0090521 glomerular visceral epithelial cell migration GO:1903206 negative regulation of hydrogen peroxide-induced cell death