NUP37

Nucleoporin 37

Gene Information Card

Symbol NUP37
Full Name nucleoporin 37
Gene Type protein-coding
Chromosomal Location 12q23.2
NCBI Gene ID 79023 ncbi.nlm.nih.gov/gene/79023
Ensembl ID ENSG00000175054
UniProt ID Q8NFH4
OMIM ID 609264
HGNC ID 29929
Aliases FLJ12735, MGC138290, p37

Description

NUP37 encodes a 37 kDa nucleoporin component of the nuclear pore complex (NPC), specifically a subunit of the Nup107-160 subcomplex. This subcomplex is essential for NPC assembly, nuclear transport, and cell cycle progression. NUP37 is involved in the structural integrity of the NPC and may play a role in mitotic spindle assembly.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Cancer (various) Altered expression or mutation may disrupt nuclear transport and cell cycle regulation, contributing to tumorigenesis. COSMIC; literature
Primary microcephaly (potential) Defects in NPC components can impair nuclear envelope dynamics and cell division, though direct evidence for NUP37 is limited. OMIM; literature

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 15.2 Medium
Lymph node 12.8 Medium
Spleen 11.5 Medium
Bone marrow 10.9 Medium
Brain 8.3 Low
Cell Line Expression
Cell Line nTPM Notes
HEK 293 14.5 Embryonic kidney; high expression
HeLa 12.1 Cervical carcinoma; moderate expression
K562 11.8 Leukemia; moderate expression
A549 10.2 Lung carcinoma; moderate expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1A>G (p.Met1?) missense <0.01% Potential loss of start codon; effect unknown
c.325C>T (p.Arg109Trp) missense <0.01% Rare variant; functional impact not characterized
Mutation functional classification

Loss of Function (LOF)

No confirmed loss-of-function mutations reported in major databases.

Gain of Function (GOF)

No confirmed gain-of-function mutations reported.

Dominant Negative (DN)

No confirmed dominant-negative mutations reported.

Gene Ontology (GO)

• nuclear pore • nucleocytoplasmic transport
• mitotic spindle assembly • protein transport
• mRNA transport

Pathways

• Nuclear pore complex (NPC) assembly
• Cell cycle
• mitotic
• Transport of mature mRNA through NPC

Protein Summary

Nucleoporin 37 (NUP37) is a 37 kDa protein component of the nuclear pore complex, specifically part of the Nup107-160 subcomplex. It localizes to the nuclear envelope and is essential for NPC assembly and function. NUP37 also participates in mitotic spindle assembly and chromosome segregation. Its expression is highest in testis and lymphoid tissues.

Related Products

Product name Cat.No. Species Gene ID
NUP37 Knockout HEK293 Cell Line EDJ-KQ14520 Human 79023 Details Get a Quote
NUP37 Knockout A-549 Cell Line EDJ-KQ44803 Human 79023 Details Get a Quote
NUP37 Knockout HeLa Cell Line EDJ-KQ44805 Human 79023 Details Get a Quote
NUP37 Knockout HCT 116 Cell Line EDJ-KQ43551 Human 79023 Details Get a Quote
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