SEH1L
SEH1-like nucleoporin
Gene Information Card
| Symbol | SEH1L |
|---|---|
| Full Name | SEH1-like nucleoporin |
| Gene Type | protein-coding |
| Chromosomal Location | 18p11.21 |
| NCBI Gene ID | 81929 ncbi.nlm.nih.gov/gene/81929 |
| Ensembl ID | ENSG00000141480 |
| UniProt ID | Q96EE3 |
| OMIM ID | 609200 |
| HGNC ID | 28776 |
| Aliases | SEH1, SEC13L, SEC13-like, NUP107 complex component |
Description
SEH1L encodes a component of the NUP107-160 subcomplex of the nuclear pore complex (NPC). The protein is involved in nucleocytoplasmic transport, mitotic spindle assembly, and kinetochore function. It is structurally related to SEC13 and is essential for NPC assembly and cell cycle progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered expression or mutation may disrupt nuclear transport and chromosome segregation | COSMIC; TCGA |
| Primary microcephaly (potential) | Defects in NPC components can impair neurogenesis | OMIM; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 12.8 | Medium |
| Brain | 10.5 | Medium |
| Liver | 8.3 | Low |
| Heart | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.5 | High expression |
| HeLa | 12.0 | Moderate |
| K562 | 9.8 | Moderate |
| A549 | 8.2 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287A>G (p.Asn96Ser) | Missense | <0.01% | Unknown functional impact |
| c.512C>T (p.Pro171Leu) | Missense | <0.01% | Predicted possibly damaging |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; likely disrupts NPC assembly if homozygous null.
Gain of Function (GOF)
No evidence.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • nuclear pore | • protein transport |
| • mitotic spindle | • kinetochore |
| • mRNA export |
Pathways
• Nuclear pore complex assembly
• Cell cycle
• mitotic
Protein Summary
SEH1L is a 397-amino acid nucleoporin that forms part of the NUP107-160 complex. It contains a beta-propeller domain and localizes to the nuclear envelope. The protein is essential for NPC integrity and has been implicated in chromosome segregation during mitosis.
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