CNP
entrez
1267
canonical
uniprot
P09543
canonical
ensembl
ENSG00000173786
resolver
ensp
ENSP00000377466
resolver
ensp
ENSP00000377470
resolver
genesymbol
CNP
resolver
hgnc
HGNC:2158
resolver
uniprot_entry
CN37_HUMAN
resolver
amino_acid_sequence
MNRGFSRKSHTFLPKIFFRKMSSSGAKDKPELQFPFLQDEDTVATLLECKTLFILRGLPGSGKSTLARVIVDKYRDGTKMVSADAYKITPGARGAFSEEYKRLDEDLAAYCRRRDIRILVLDDTNHERERLEQLFEMADQYQYQVVLVEPKTAWRLDCAQLKEKNQWQLSADDLKKLKPGLEKDFLPLYFGWFLTKKSSETLRKAGQVFLEELGNHKAFKKELRQFVPGDEPREKMDLVTYFGKRPPGVLHCTTKFCDYGKAPGAEEYAQQDVLKKSYSKAFTLTISALFVTPKTTGARVELSEQQLQLWPSDVDKLSPTDNLPRGSRAHITLGCAADVEAVQTGLDLLEILRQEKGGSRGEEVGELSRGKLYSLGNGRWMLTLAKNMEVRAIFTGYYGKGKPVPTQGSRKGGALQSCTII
uniprot
proteins
disease_involvement
DISEASE: Leukodystrophy, hypomyelinating, 20 (HLD20) [MIM:619071]: An autosomal recessive disorder characterized by neuroregression and loss of motor, language and cognitive skills, after a normal early development. Disease onset is between 12 and 18 month of age. Patients show poor overall growth, microcephaly, feeding difficulties and spastic quadriplegia. Some patients may have seizures. Death in childhood may occur. Hypomyelinating leukodystrophy with subcortical and periventricular white matter abnormalities is seen on brain imaging. {ECO:0000269|PubMed:32128616}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.4.37
uniprot
proteins
function
FUNCTION: Myelin-associated enzyme that catalyzes the phosphodiester hydrolysis of 2',3'-cyclic nucleotides to 2'-nucleotides. In the mitochondria, regulates the functioning of the mitochondrial permeability transition pore (mPTP), and thus is involved in the mechanisms of cell death, both apoptosis and necrosis. Acts as an antiviral factor by suppressing the assembly of SARS-CoV-2 virions (PubMed:38117830). {ECO:0000250|UniProtKB:P06623, ECO:0000250|UniProtKB:P16330, ECO:0000269|PubMed:38117830}.; FUNCTION: Acts as an antiviral factor by suppressing the assembly of HIV-1 virions through direct interaction with GAG. {ECO:0000269|PubMed:38167610}.
uniprot
proteins
mass_dalton
47579
uniprot
proteins
mutagenesis
MUTAGEN 418; /note="C->A: Loss of plasma membrane localization."; /evidence="ECO:0000269|PubMed:38167610
uniprot
proteins
post_translational_modification
PTM: Acetylated. Acetylation suppresses enzymatic activity through restricting substrate accessibility. Deacetylated by SIRT3. {ECO:0000269|PubMed:34330062}.
uniprot
proteins
protein_family
2H phosphoesterase superfamily
uniprot
proteins
protein_family
CNPase family
uniprot
proteins
pubmed
12643545
uniprot
proteins
pubmed
1360194
uniprot
proteins
pubmed
1385234
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15713463
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
17081065
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
2835044
uniprot
proteins
pubmed
32128616
uniprot
proteins
pubmed
34330062
uniprot
proteins
pubmed
38117830
uniprot
proteins
pubmed
38167610
uniprot
proteins
pubmed
8065530
uniprot
proteins
pubmed
8392017
uniprot
proteins
pubmed
9268698
uniprot
proteins
sequence_length
421
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Melanosome {ECO:0000269|PubMed:12643545}. Mitochondrion {ECO:0000269|PubMed:34330062}. Note=Firmly bound to membrane structures of brain white matter. {ECO:0000250|UniProtKB:P16330}.; SUBCELLULAR LOCATION: [Isoform CNPI]: Cell membrane {ECO:0000269|PubMed:38167610}.
uniprot
proteins