NCDN
entrez
23154
canonical
uniprot
Q9UBB6
canonical
ensembl
ENSG00000020129
resolver
ensp
ENSP00000348394
resolver
ensp
ENSP00000362340
resolver
ensp
ENSP00000362350
resolver
genesymbol
NCDN
resolver
genesymbol_syn
KIAA0607
resolver
hgnc
HGNC:17597
resolver
uniprot
D3DPR9
resolver
uniprot
Q9UBY2
resolver
uniprot
Q9Y4A6
resolver
uniprot
Q9Y4D9
resolver
uniprot_entry
NCDN_HUMAN
resolver
uniprot_sec
D3DPR9
resolver
uniprot_sec
Q9UBY2
resolver
uniprot_sec
Q9Y4A6
resolver
uniprot_sec
Q9Y4D9
resolver
amino_acid_sequence
MSCCDLAAAGQLGKASIMASDCEPALNQAEGRNPTLERYLGALREAKNDSEQFAALLLVTKAVKAGDIDAKTRRRIFDAVGFTFPNRLLTTKEAPDGCPDHVLRALGVALLACFCSDPELAAHPQVLNKIPILSTFLTARGDPDDAARRSMIDDTYQCLTAVAGTPRGPRHLIAGGTVSALCQAYLGHGYGFDQALALLVGLLAAAETQCWKEAEPDLLAVLRGLSEDFQKAEDASKFELCQLLPLFLPPTTVPPECYRDLQAGLARILGSKLSSWQRNPALKLAARLAHACGSDWIPAGSSGSKFLALLVNLACVEVRLALEETGTEVKEDVVTACYALMELGIQECTRCEQSLLKEPQKVQLVSVMKEAIGAVIHYLLQVGSEKQKEPFVFASVRILGAWLAEETSSLRKEVCQLLPFLVRYAKTLYEEAEEANDLSQQVANLAISPTTPGPTWPGDALRLLLPGWCHLTVEDGPREILIKEGAPSLLCKYFLQQWELTSPGHDTSVLPDSVEIGLQTCCHIFLNLVVTAPGLIKRDACFTSLMNTLMTSLPALVQQQGRLLLAANVATLGLLMARLLSTSPALQGTPASRGFFAAAILFLSQSHVARATPGSDQAVLALSPEYEGIWADLQELWFLGMQAFTGCVPLLPWLAPAALRSRWPQELLQLLGSVSPNSVKPEMVAAYQGVLVELARANRLCREAMRLQAGEETASHYRMAALEQCLSEP
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with infantile epileptic spasms (NEDIES) [MIM:619373]: An autosomal dominant neurodevelopmental disorder characterized by onset of severe and frequent epileptic spasms within the first year of life. Affected individuals have global developmental delay with delayed walking and poor or absent speech. More variable features may include poor overall growth, high-arched palate, and delayed myelination on brain imaging. {ECO:0000269|PubMed:33711248}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Probably involved in signal transduction in the nervous system, via increasing cell surface localization of GRM5/mGluR5 and positively regulating its signaling (PubMed:33711248). Required for the spatial learning process. Acts as a negative regulator of Ca(2+)-calmodulin-dependent protein kinase 2 (CaMK2) phosphorylation. May play a role in modulating melanin-concentrating hormone-mediated functions via its interaction with MCHR1 that interferes with G protein-coupled signal transduction. May be involved in bone metabolism. May also be involved in neurite outgrowth (Probable). {ECO:0000269|PubMed:16945926, ECO:0000269|PubMed:33711248, ECO:0000305|PubMed:33711248}.
uniprot
proteins
mass_dalton
78864
uniprot
proteins
post_translational_modification
PTM: Palmitoylated. Palmitoylation by ZDHHC1, ZDHHC3 and ZDHHC11 regulates the association of NCDN with endosome membranes. May also be palmitoylated by ZDHHC7. {ECO:0000250|UniProtKB:O35095}.
uniprot
proteins
protein_family
Neurochondrin family
uniprot
proteins
pubmed
10524216
uniprot
proteins
pubmed
10684983
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
16945926
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23687301
uniprot
proteins
pubmed
33711248
uniprot
proteins
pubmed
9628581
uniprot
proteins
sequence_length
729
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:23687301}. Endosome membrane {ECO:0000250|UniProtKB:O35095}; Lipid-anchor {ECO:0000305|PubMed:23687301}. Cell projection, dendrite {ECO:0000250|UniProtKB:O35095}. Postsynapse {ECO:0000250|UniProtKB:O35095}. Note=Localizes to somatic regions of neurons. Localization to endosome membrane requires palmitoylation. {ECO:0000250|UniProtKB:O35095}.
uniprot
proteins