CMPK2
entrez
129607
canonical
uniprot
Q5EBM0
canonical
ensembl
ENSG00000134326
resolver
ensp
ENSP00000256722
resolver
ensp
ENSP00000384915
resolver
ensp
ENSP00000396385
resolver
genesymbol
CMPK2
resolver
hgnc
HGNC:27015
resolver
uniprot
A2RUB0
resolver
uniprot
A5D8T2
resolver
uniprot
B7ZM18
resolver
uniprot
Q6ZRU2
resolver
uniprot
Q96AL8
resolver
uniprot_entry
CMPK2_HUMAN
resolver
uniprot_sec
A2RUB0
resolver
uniprot_sec
A5D8T2
resolver
uniprot_sec
B7ZM18
resolver
uniprot_sec
Q6ZRU2
resolver
uniprot_sec
Q96AL8
resolver
amino_acid_sequence
MAFARRLLRGPLSGPLLGRRGVCAGAMAPPRRFVLELPDCTLAHFALGADAPGDADAPDPRLAALLGPPERSYSLCVPVTPDAGCGARVRAARLHQRLLHQLRRGPFQRCQLLRLLCYCPGGQAGGAQQGFLLRDPLDDPDTRQALLELLGACQEAPRPHLGEFEADPRGQLWQRLWEVQDGRRLQVGCAQVVPVPEPPLHPVVPDLPSSVVFPDREAARAVLEECTSFIPEARAVLDLVDQCPKQIQKGKFQVVAIEGLDATGKTTVTQSVADSLKAVLLKSPPSCIGQWRKIFDDEPTIIRRAFYSLGNYIVASEIAKESAKSPVIVDRYWHSTATYAIATEVSGGLQHLPPAHHPVYQWPEDLLKPDLILLLTVSPEERLQRLQGRGMEKTREEAELEANSVFRQKVEMSYQRMENPGCHVVDASPSREKVLQTVLSLIQNSFSEP
uniprot
proteins
disease_involvement
DISEASE: Basal ganglia calcification, idiopathic, 10, autosomal recessive (IBGC10) [MIM:621018]: A form of basal ganglia calcification, a genetically heterogeneous condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. IBGC10 is a progressive form characterized by motor dysfunction, speech impairment, and impaired cognition. {ECO:0000269|PubMed:36443312}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.4.14
uniprot
proteins
ec_number
2.7.4.6
uniprot
proteins
function
FUNCTION: Mitochondrial nucleotide monophosphate kinase needed for salvage dNTP synthesis that mediates immunomodulatory and antiviral activities through IFN-dependent and IFN-independent pathways (PubMed:17999954, PubMed:30083606, PubMed:36930652, PubMed:37075076). Restricts the replication of multiple viruses including flaviviruses or coronaviruses (PubMed:30083606, PubMed:36930652, PubMed:37075076). Together with viperin/RSAD2 and ddhCTP, suppresses the replication of several coronaviruses through inhibition of the viral RNA-dependent RNA polymerase activities (PubMed:36930652). Concerning flaviviruses, restricts RNA translation when localized to the mitochondria independently of its kinase activity (PubMed:37075076). Is able to phosphorylate dUMP, dCMP, CMP, UMP and monophosphates of the pyrimidine nucleoside analogs ddC, dFdC, araC, BVDU and FdUrd with ATP as phosphate donor. Efficacy is highest for dUMP followed by dCMP while CMP and UMP are poor substrates. Controls therefore mitochondrial DNA synthesis by supplying required deoxyribonucleotides (By similarity). CMPK2-dependent mitochondrial DNA synthesis is necessary for the production of oxidized mitochondrial DNA fragments after exposure to NLRP3 activators (By similarity). In turn, cytosolic oxidized mtDNA associates with the NLRP3 inflammasome complex and is required for its activation (By similarity). {ECO:0000250|UniProtKB:Q3U5Q7, ECO:0000269|PubMed:17999954, ECO:0000269|PubMed:23416111, ECO:0000269|PubMed:30083606, ECO:0000269|PubMed:34142025, ECO:0000269|PubMed:36930652, ECO:0000269|PubMed:37075076}.
uniprot
proteins
mass_dalton
49448
uniprot
proteins
protein_family
Thymidylate kinase family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17999954
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23416111
uniprot
proteins
pubmed
30083606
uniprot
proteins
pubmed
34142025
uniprot
proteins
pubmed
36443312
uniprot
proteins
pubmed
36930652
uniprot
proteins
pubmed
37075076
uniprot
proteins
sequence_length
449
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:17999954, ECO:0000269|PubMed:34142025, ECO:0000269|PubMed:36443312, ECO:0000269|PubMed:37075076}. Note=Mitochondrial localization is required for its antiviral function. {ECO:0000269|PubMed:37075076}.
uniprot
proteins