NDC1 is a 674 amino acid multi-pass membrane protein, central core structure of the nuclear pore complex (NPC) and member of the NDC1 family that is crucial for selective nuclear protein import. Existing as four alternatively spliced isoforms that are encoded by a gene located on human chromosome 1, NDC1 interacts with Nup35 and anchors Aladin to the nuclear envelope of the NPC, a region of macromolecular transport between the nucleus and cytoplasm. In the absence of NDC1, Aladin becomes mislocalized and may lead to the development of an autosomal recessive disorder termed achalasia-addisonianism-alacrima (triple A) syndrome. Triple A syndrome is characterized by achalasia, alacrima and adrenocortico-tropin-resistant adrenal insufficiency. Robust expression in neural systems associated with cognitive, motor and sensory functions is consistent with the myriad of symptoms experienced by patients with triple A syndrome.
Function:
Component of the nuclear pore complex (NPC), which plays a key role in de novo assembly and insertion of NPC in the nuclear envelope. Required for NPC and nuclear envelope assembly, possibly by forming a link between the nuclear envelope membrane and soluble nucleoporins, thereby anchoring the NPC in the membrane.
Subunit:
Interacts with the NUP35/NUP53 By similarity. Interacts with AAAS, anchoring it to the nuclear envelope.
Subcellular Location:
Nucleus; nuclear pore complex; multipass membrane protein
Similarity:
Belongs to the NDC1 family.
SWISS:
Q9BTX1
Gene ID:
55706
Database links:
Entrez Gene: 55706 Human
Entrez Gene: 72787 Mouse
Entrez Gene: 362557 Rat
Entrez Gene: 335236 Zebrafish
Omim: 610115 Human
SwissProt: Q9BTX1 Human
SwissProt: Q8VCB1 Mouse
SwissProt: Q6AXN4 Rat
SwissProt: Q7SZC5 Zebrafish
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