NUP155 gene

nucleoporin 155

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

Nucleoporins are proteins that play an important role in the assembly and functioning of the nuclear pore complex (NPC) which regulates the movement of macromolecules across the nuclear envelope (NE). The protein encoded by this gene plays a role in the fusion of NE vesicles and formation of the double membrane NE. The protein may also be involved in cardiac physiology and may be associated with the pathogenesis of atrial fibrillation. Alternative splicing results in multiple transcript variants of this gene. A pseudogene associated with this gene is located on chromosome 6. [provided by RefSeq, May 2013]

From UniProt:

Essential component of nuclear pore complex. Could be essessential for embryogenesis. Nucleoporins may be involved both in binding and translocating proteins during nucleocytoplasmic transport.

From NCBI Gene:

  • Atrial fibrillation, familial, 15

From UniProt:

Atrial fibrillation, familial, 15 (ATFB15): A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. [MIM:615770]

Cytogenetic Location: 5p13.2, which is the short (p) arm of chromosome 5 at position 13.2

Molecular Location: base pairs 37,291,633 to 37,371,455 on chromosome 5 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 5p13.2, which is the short (p) arm of chromosome 5 at position 13.2
  • ATFB15
  • N155