NDC1
Nucleoporin NDC1
Also known as: FLJ10407, NDC1_HUMAN, NET3, TMEM48
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9BTX1
- Gene
- NDC1
- Ensembl
- ENSG00000058804
- Chromosome
- 1
- Canonical length
- 674 aa
- Protein class
- Metabolic proteins, Predicted membrane proteins, Transporters
- Subcellular location
- Nuclear membrane,Plasma membrane,Actin filaments
OverviewNCBI Gene
A structural constituent of nuclear pore. Involved in nuclear pore complex assembly and nuclear pore localization. Located in actin cytoskeleton; nuclear membrane; and plasma membrane. Part of nuclear pore. [provided by Alliance of Genome Resources, Jul 2025]
Canonical amino-acid sequenceUniProt
674 residues, UniProt reviewed canonical sequence.
>Q9BTX1|NDC1
1 MATAVSRPCA GRSRDILWRV LGWRIVASIV WSVLFLPICT TVFIIFSRID LFHPIQWLSD
61 SFSDLYSSYV IFYFLLLSVV IIIISIFNVE FYAVVPSIPC SRLALIGKII HPQQLMHSFI
121 HAAMGMVMAW CAAVITQGQY SFLVVPCTGT NSFGSPAAQT CLNEYHLFFL LTGAFMGYSY
181 SLLYFVNNMN YLPFPIIQQY KFLRFRRSLL LLVKHSCVES LFLVRNFCIL YYFLGYIPKA
241 WISTAMNLHI DEQVHRPLDT VSGLLNLSLL YHVWLCGVFL LTTWYVSWIL FKIYATEAHV
301 FPVQPPFAEG SDECLPKVLN SNPPPIIKYL ALQDLMLLSQ YSPSRRQEVF SLSQPGGHPH
361 NWTAISRECL NLLNGMTQKL ILYQEAAATN GRVSSSYPVE PKKLNSPEET AFQTPKSSQM
421 PRPSVPPLVK TSLFSSKLST PDVVSPFGTP FGSSVMNRMA GIFDVNTCYG SPQSPQLIRR
481 GPRLWTSASD QQMTEFSNPS PSTSISAEGK TMRQPSVIYS WIQNKREQIK NFLSKRVLIM
541 YFFSKHPEAS IQAVFSDAQM HIWALEGLSH LVAASFTEDR FGVVQTTLPA ILNTLLTLQE
601 AVDKYFKLPH ASSKPPRISG SLVDTSYKTL RFAFRASLKT AIYRITTTFG EHLNAVQASA
661 EHQKRLQQFL EFKELocalizationUniProt · AlphaFold · HPA
Whether an antibody against NDC1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 6
- Mean surface accessibility (rSASA)
- 0.36
- Highest tissue expression
- 17 nTPM
Expression across tissuesHPA
Tissue
- tonsil: 17 nTPM
- lymph node: 15 nTPM
- rectum: 13 nTPM
- thymus: 13 nTPM
- colon: 11 nTPM
- breast: 10 nTPM
Single-cell type
- erythrocyte progenitors: 85 nCPM
- monocyte progenitors: 84 nCPM
- megakaryocyte progenitors: 53 nCPM
- differentiating spermatogonia: 52 nCPM
- gastric progenitor cells: 49 nCPM
- enteric transient amplifying cells: 43 nCPM
Immune cell
- naive CD4 T-cell: 5.3 nTPM
- intermediate monocyte: 5 nTPM
- MAIT T-cell: 4.7 nTPM
- naive CD8 T-cell: 4.1 nTPM
- memory B-cell: 3.6 nTPM
- T-reg: 3.4 nTPM
Brain region
- white matter: 6.9 nTPM
- cerebral cortex: 6.5 nTPM
- cerebellum: 6.4 nTPM
- choroid plexus: 6.4 nTPM
- thalamus: 6.4 nTPM
- spinal cord: 6.3 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about NDC1.
Disease | AllUniProt
Conditions NDC1 is implicated in, by any mechanism.
- Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima (NEDAPA) MIM:621328
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 137 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.24
- gnomAD pLI
- 1
- gnomAD missense Z
- 1.09
- DepMap mean gene effect
- -0.53
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- homologous chromosome pairing at meiosis
- mRNA transport
- nuclear pore complex assembly
- nuclear pore localization
- nuclear pore organization
- nucleocytoplasmic transport
- protein transport
- spermatogenesis
Molecular functions
Cellular components
- actin cytoskeleton
- cytoplasm
- membrane
- nuclear envelope
- nuclear membrane
- nuclear pore
- plasma membrane
- nuclear pore transmembrane ring
Protein domainsUniProt · Pfam · InterPro
- Nucleoporin protein Ndc1-Nup
- Nucleoporin protein Ndc1-Nup
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of NDC1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads NDC1 as an antibody target. Whether an autoantibody or antibody against NDC1 could matter depends on whether native NDC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
NDC1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label NDC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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