NCDN

Protein identityUniProt · HPA

UniProt accession

Q9UBB6

Gene

NCDN

Ensembl

ENSG00000020129

Chromosome

1

Canonical length

729 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Cytosol

OverviewNCBI Gene

This gene encodes a leucine-rich cytoplasmic protein, which is highly similar to a mouse protein that negatively regulates Ca/calmodulin-dependent protein kinase II phosphorylation and may be essential for spatial learning processes. Several alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

729 residues, UniProt reviewed canonical sequence.

>Q9UBB6|NCDN
     1  MSCCDLAAAG QLGKASIMAS DCEPALNQAE GRNPTLERYL GALREAKNDS EQFAALLLVT
    61  KAVKAGDIDA KTRRRIFDAV GFTFPNRLLT TKEAPDGCPD HVLRALGVAL LACFCSDPEL
   121  AAHPQVLNKI PILSTFLTAR GDPDDAARRS MIDDTYQCLT AVAGTPRGPR HLIAGGTVSA
   181  LCQAYLGHGY GFDQALALLV GLLAAAETQC WKEAEPDLLA VLRGLSEDFQ KAEDASKFEL
   241  CQLLPLFLPP TTVPPECYRD LQAGLARILG SKLSSWQRNP ALKLAARLAH ACGSDWIPAG
   301  SSGSKFLALL VNLACVEVRL ALEETGTEVK EDVVTACYAL MELGIQECTR CEQSLLKEPQ
   361  KVQLVSVMKE AIGAVIHYLL QVGSEKQKEP FVFASVRILG AWLAEETSSL RKEVCQLLPF
   421  LVRYAKTLYE EAEEANDLSQ QVANLAISPT TPGPTWPGDA LRLLLPGWCH LTVEDGPREI
   481  LIKEGAPSLL CKYFLQQWEL TSPGHDTSVL PDSVEIGLQT CCHIFLNLVV TAPGLIKRDA
   541  CFTSLMNTLM TSLPALVQQQ GRLLLAANVA TLGLLMARLL STSPALQGTP ASRGFFAAAI
   601  LFLSQSHVAR ATPGSDQAVL ALSPEYEGIW ADLQELWFLG MQAFTGCVPL LPWLAPAALR
   661  SRWPQELLQL LGSVSPNSVK PEMVAAYQGV LVELARANRL CREAMRLQAG EETASHYRMA
   721  ALEQCLSEP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NCDN 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

Other membrane

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.28

Highest tissue expression

913 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NCDN.

Disease | AllUniProt

Conditions NCDN is implicated in, by any mechanism.

• Neurodevelopmental disorder with infantile epileptic spasms (NEDIES) MIM:619373

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 130 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Neurodevelopmental disorder with infantile epileptic spasms

Disease | AutoantibodyPubMed

Conditions in which antibodies against NCDN are reported. Each links to that disease's full target list.

• Cerebellar Ataxia 5

ReferencesPubMed · IEDB

Publications for NCDN from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

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)

0.18

gnomAD pLI

1

gnomAD missense Z

3.76

DepMap mean gene effect

-0.18

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

• bone resorption
• neuron projection development
• regulation of neuronal synaptic plasticity
• regulation of postsynaptic neurotransmitter receptor internalization

Cellular components

• cytosol
• dendrite
• endosome membrane
• glutamatergic synapse
• membrane
• neuronal cell body
• perikaryon
• postsynapse

Protein domainsUniProt · Pfam · InterPro

• Armadillo-type fold
• Neurochondrin
• Neurochondrin

KeywordsUniProt

• Acetylation
• Cell projection
• Cytoplasm
• Endosome
• Epilepsy
• Intellectual disability
• Lipoprotein
• Membrane
• Methylation
• Palmitate
• Phosphoprotein
• Synapse

InteractionsUniProt · HPA

Protein binding partners of NCDN in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• DIAPH1
• GRM5
• MCHR1
• SEMA4C
• EFTUD2
• PTGES3
• RUVBL2