NUP214 Gene Summary [Human]

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 is a member of the FG-repeat-containing nucleoporins. The protein encoded by this gene is localized to the cytoplasmic face of the nuclear pore complex where it is required for proper cell cycle progression and nucleocytoplasmic transport. The 3' portion of this gene forms a fusion gene with the DEK gene on chromosome 6 in a t(6,9) translocation associated with acute myeloid leukemia and myelodysplastic syndrome. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

Details

Type
Protein Coding
Official Symbol
NUP214
Official Name
nucleoporin 214 [Source:HGNC Symbol;Acc:HGNC:8064]
Ensembl ID
ENSG00000126883
Bio databases IDs NCBI: 8021 Ensembl: ENSG00000126883
Aliases nucleoporin 214, nuclear pore complex protein Nup214, CAN protein, putative oncogene
Synonyms BC039282, CAIN, CAN, D2H9S46E, IIAE9, MGC37347, nucleoporin 214, NUP200, RGD1304977
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NUP214 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • FG repeat
  • Crm1 binding domain
  • Family of unknown function (DUF5585)
  • structural constituent of nuclear pore
  • protein binding
  • Keratin type II head
  • nuclear localization sequence binding
  • Nucleoporin Nup214 phenylalanine-glycine (FG) domain
  • nuclear export signal receptor
  • transporter

Pathways

Biological processes and signaling networks where the NUP214 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • hyperplasia
  • susceptibility to acute infection induced encephalopathy type 9
  • renal cell carcinoma
  • acute myeloid leukemia
  • renal cell cancer
  • nodular sclerosis classical Hodgkin lymphoma
  • nodular sclerosis Hodgkin disease
  • focal cortical dysplasia of Taylor
  • adult T-cell leukemia/lymphoma
  • mature T-cell neoplasia
regulated by
regulates
role in cell
  • proliferation
  • cell death
  • replication in
  • expansion
  • depletion
  • cell cycle progression
  • regulation
  • regulation in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • nuclear fraction
  • detergent resistant lipid raft fraction
  • Cytoplasm
  • cytosol
  • nuclear pores
  • nucleoplasm
  • nuclear rim
  • nuclear envelope
  • detergent-soluble fraction

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human NUP214 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • mRNA export from nucleus
  • nucleocytoplasmic transport
  • RNA export from nucleus
  • protein import into nucleus
  • regulation of cell cycle
  • protein export from nucleus
  • regulation of nucleocytoplasmic transport

Cellular Component

Where in the cell the gene product is active
  • nuclear envelope
  • cytosol
  • nucleoplasm
  • nuclear pore

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • structural constituent of nuclear pore
  • nuclear localization sequence binding
  • nuclear export signal receptor activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.