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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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NDC1
NDC1 transmembrane nucleoporin
Chromosome 1 · 1p32.3
NCBI Gene: 55706Ensembl: ENSG00000058804.13HGNC: HGNC:25525UniProt: Q9BTX1
97PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingstructural constituent of nuclear porenuclear pore complex assemblynuclear pore localizationHIV infectioninfluenzaviral diseaseAchalasia
✦AI Summary

NDC1 (NDC1 transmembrane nucleoporin) is a conserved transmembrane nucleoporin that serves as a critical structural component of nuclear pore complexes (NPCs) 1. The protein plays an essential role in NPC and nuclear envelope assembly by forming links between the nuclear envelope membrane and soluble nucleoporins, thereby anchoring NPCs in the membrane 1. NDC1 functionally interacts with soluble nucleoporins including Nup93, Nup53, and Nup205, with direct binding demonstrated between NDC1 and Nup53 1. Beyond its structural role, NDC1 is required for recruitment of ALADIN to the nuclear envelope and post-mitotic NPC insertion 2. Pathogenic biallelic NDC1 variants that interfere with ALADIN binding are associated with a neurodevelopmental disorder characterized by intellectual disability, severe demyelinating polyneuropathy, alacrima, and achalasia - resembling triple A syndrome but without adrenal insufficiency 2. In cancer contexts, NDC1 is overexpressed in multiple tumor types and associated with poor prognosis, with oncogenic effects demonstrated in acute myeloid leukemia and hepatocellular carcinoma 34. NDC1 also plays roles in male fertility, affecting spermatogenesis through interactions with head-tail coupling apparatus proteins 5.

Sources cited
1
NDC1 is required for NPC and nuclear envelope assembly and anchors NPCs by linking membrane to soluble nucleoporins
PMID: 16600873
2
Biallelic NDC1 variants cause neurodevelopmental disorder with polyneuropathy and triple A-like syndrome by interfering with ALADIN binding
PMID: 39003500
3
NDC1 is overexpressed in acute myeloid leukemia and promotes leukemic transcription programs
PMID: 39954676
4
NDC1 promotes hepatocellular carcinoma tumorigenesis and is associated with poor prognosis
PMID: 38348718
5
NDC1 affects spermatogenesis and male fertility through interactions with head-tail coupling apparatus proteins
PMID: 37997706
Disease Associationsⓘ21
HIV infectionOpen Targets
0.54Moderate
influenzaOpen Targets
0.54Moderate
viral diseaseOpen Targets
0.53Moderate
AchalasiaOpen Targets
0.46Moderate
COVID-19Open Targets
0.37Weak
HistiocytosisOpen Targets
0.37Weak
urethral syndromeOpen Targets
0.27Weak
neurodegenerative diseaseOpen Targets
0.22Weak
chronic laryngitisOpen Targets
0.22Weak
hereditary coproporphyriaOpen Targets
0.16Weak
Global developmental delayOpen Targets
0.11Weak
cleft palateOpen Targets
0.11Weak
retinopathyOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.08Suggestive
cancerOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.06Suggestive
Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomaliesOpen Targets
0.05Suggestive
male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndromeOpen Targets
0.05Suggestive
pancreatic adenocarcinomaOpen Targets
0.05Suggestive
Mayer-Rokitansky-Küster-Hauser syndromeOpen Targets
0.05Suggestive
Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrimaUniProt
Pathogenic Variants1
NM_018087.5(NDC1):c.892-21G>APathogenic
Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima
☆☆☆☆2025
View on ClinVar ↗
Related Genes
NUP88Protein interaction99%RANBP2Protein interaction99%SEC13Protein interaction99%TPRProtein interaction99%NUP214Protein interaction99%AAASProtein interaction99%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
94%
Heart
54%
Liver
49%
Ovary
40%
Lung
36%
Gene Interaction Network
Click a node to explore
NDC1NUP88RANBP2SEC13TPRNUP214AAAS
PROTEIN STRUCTURE
Preparing viewer…
PDB7R5K · 12.00 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.38Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.21 [0.13–0.38]
RankingsWhere NDC1 stands among ~20K protein-coding genes
  • #4,954of 20,598
    Most Researched97 · top quartile
  • #4,900of 5,498
    Most Pathogenic Variants1
  • #1,769of 17,882
    Most Constrained (LOEUF)0.38 · top 10%
Genes detectedNDC1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
PSPC1 exerts an oncogenic role in AML by regulating a leukemic transcription program in cooperation with PU.1.
PMID: 39954676
Cell Stem Cell · 2025
1.00
2
Pan-cancer analysis and experimental validation identify ndc1 as a potential immunological, prognostic and therapeutic biomarker in pancreatic cancer.
PMID: 37733696
Aging (Albany NY) · 2023
0.90
3
ARRDC5 deficiency impairs spermatogenesis by affecting SUN5 and NDC1.
PMID: 37997706
Development · 2023
0.80
4
Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome.
PMID: 39003500
HGG Adv · 2024
0.70
5
NDC1 promotes hepatocellular carcinoma tumorigenesis by targeting BCAP31 to activate PI3K/AKT signaling.
PMID: 38348718
J Biochem Mol Toxicol · 2024
0.60