NDC1

Chr 1p32.3

NDC1 transmembrane nucleoporin

Aliases:: FLJ10407, NET3
MANE:: ENST00000371429.4

OMIM: 610115 ↗NCBI: 55706 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

NDC1 · Q9BTX1

v62025-08-01

Predicted Aligned Error matrix for NDC1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

75.6/ 100

Confident

674 residues

Confidence breakdown

Very high(≥ 90)43%
Confident(70–90)31%
Low(50–70)6%
Very low(< 50)20%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Hereditary neuropathy
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima
0.64
influenza
0.54
HIV infectious disease
0.54
viral infectious disease
0.53
Histiocytosis
0.37
COVID-19
0.37
urethral syndrome
0.24
neurodegenerative disease
0.22
chronic laryngitis
0.20
hereditary coproporphyria
0.16

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Nucleoporin NDC1

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