NDC1: Transmembrane Nucleoporin Essential for Nuclear Pore Complex Assembly
A critical component of the nuclear pore complex involved in nucleocytoplasmic transport and cell cycle regulation
Gene Information Card
| Symbol | NDC1 |
|---|---|
| Full Name | NDC1 transmembrane nucleoporin |
| Gene Type | Protein coding |
| Chromosomal Location | 1p32.3 |
| NCBI Gene ID | 55706 ncbi.nlm.nih.gov/gene/55706 |
| Ensembl ID | ENSG00000158805 |
| UniProt ID | Q9BTX1 |
| OMIM ID | 610115 |
| HGNC ID | 25525 |
| Aliases | MEDD, NDC1_HUMAN, TMEM48 |
Description
NDC1 (NDC1 transmembrane nucleoporin) encodes a transmembrane protein that localizes to the nuclear pore complex (NPC). It is essential for NPC assembly and maintenance, anchoring the NPC to the nuclear envelope. NDC1 interacts with other nucleoporins and is required for proper nucleocytoplasmic transport and cell cycle progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary microcephaly | Disruption of NPC assembly impairs nuclear transport during neurogenesis | OMIM #610115 |
| Cancer (various) | Altered NDC1 expression affects NPC integrity and nucleocytoplasmic transport, promoting tumorigenesis | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Brain | 8.9 | Medium |
| Liver | 7.3 | Low |
| Heart | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.3 | Cervical carcinoma |
| HEK 293 | 11.8 | Embryonic kidney |
| K562 | 9.5 | Leukemia |
| A549 | 8.2 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.124C>T (p.Arg42Trp) | Missense | <0.01% | Unknown significance |
| c.856G>A (p.Glu286Lys) | Missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt NDC1 protein expression or NPC assembly lead to impaired nuclear transport and cell cycle defects.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • nuclear pore (GO:0005643) | • structural constituent of nuclear pore (GO:0017056) |
| • nucleocytoplasmic transport (GO:0006913) | • mRNA transport (GO:0051028) |
| • nuclear envelope (GO:0005635) |
Pathways
• Nuclear pore complex assembly
• Nucleocytoplasmic transport
• Cell cycle
• mitotic
Protein Summary
NDC1 is a 674-amino acid transmembrane nucleoporin with multiple membrane-spanning domains. It is an integral component of the nuclear pore complex, anchoring the NPC to the nuclear envelope. NDC1 interacts with other nucleoporins such as NUP93 and NUP188, and is required for NPC assembly and maintenance. The protein is essential for proper nucleocytoplasmic transport and cell cycle progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FUNDC1 Knockout HEK293 Cell Line | EDJ-KQ9541 | Human | 139341 | Details Get a Quote |
| FNDC1 Knockout HEK293 Cell Line | EDJ-KQ10133 | Human | 84624 | Details Get a Quote |
| TXNDC17 Knockout HEK293 Cell Line | EDJ-KQ10207 | Human | 84817 | Details Get a Quote |
| KNDC1 Knockout HEK293 Cell Line | EDJ-KQ10357 | Human | 85442 | Details Get a Quote |
| RUNDC1 Knockout HEK293 Cell Line | EDJ-KQ10520 | Human | 146923 | Details Get a Quote |
| TXNDC12 Knockout HEK293 Cell Line | EDJ-KQ10895 | Human | 51060 | Details Get a Quote |
| TXNDC11 Knockout HEK293 Cell Line | EDJ-KQ10896 | Human | 51061 | Details Get a Quote |
| FNDC11 Knockout HEK293 Cell Line | EDJ-KQ12752 | Human | 79025 | Details Get a Quote |
| FNDC10 Knockout HEK293 Cell Line | EDJ-KQ13501 | Human | 643988 | Details Get a Quote |
| NDC1 Knockout HEK293 Cell Line | EDJ-KQ14399 | Human | 55706 | Details Get a Quote |
| TXNDC15 Knockout HEK293 Cell Line | EDJ-KQ15994 | Human | 79770 | Details Get a Quote |
| TXNDC16 Knockout HEK293 Cell Line | EDJ-KQ15995 | Human | 57544 | Details Get a Quote |
| XNDC1N Knockout HEK293 Cell Line | EDJ-KQ16161 | Human | 100133315 | Details Get a Quote |
| RUNDC1 Knockout A-549 Cell Line | EDJ-KQ37930 | Human | 146923 | Details Get a Quote |
| RUNDC1 Knockout HCT 116 Cell Line | EDJ-KQ37931 | Human | 146923 | Details Get a Quote |
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