CHKB
entrez
1120
canonical
uniprot
Q9Y259
canonical
ensembl
ENSG00000100288
resolver
ensp
ENSP00000384400
resolver
genesymbol
CHKB
resolver
genesymbol_syn
CHETK
resolver
genesymbol_syn
CHKL
resolver
hgnc
HGNC:1938
resolver
uniprot
A0PJM6
resolver
uniprot
Q13388
resolver
uniprot_entry
CHKB_HUMAN
resolver
uniprot_sec
A0PJM6
resolver
uniprot_sec
Q13388
resolver
amino_acid_sequence
MAAEATAVAGSGAVGGCLAKDGLQQSKCPDTTPKRRRASSLSRDAERRAYQWCREYLGGAWRRVQPEELRVYPVSGGLSNLLFRCSLPDHLPSVGEEPREVLLRLYGAILQGVDSLVLESVMFAILAERSLGPQLYGVFPEGRLEQYIPSRPLKTQELREPVLSAAIATKMAQFHGMEMPFTKEPHWLFGTMERYLKQIQDLPPTGLPEMNLLEMYSLKDEMGNLRKLLESTPSPVVFCHNDIQEGNILLLSEPENADSLMLVDFEYSSYNYRGFDIGNHFCEWVYDYTHEEWPFYKARPTDYPTQEQQLHFIRHYLAEAKKGETLSQEEQRKLEEDLLVEVSRYALASHFFWGLWSILQASMSTIEFGYLDYAQSRFQFYFQQKGQLTSVHSSS
uniprot
proteins
disease_involvement
DISEASE: Muscular dystrophy, congenital, megaconial type (MDCMC) [MIM:602541]: An autosomal recessive, congenital muscular dystrophy characterized by early-onset muscle wasting, intellectual disability, and dilated cardiomyopathy in half of affected individuals. Some patients may die from cardiomyopathy in the first or second decade of life. Muscle biopsy shows peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center. {ECO:0000269|PubMed:21665002, ECO:0000269|PubMed:22782513, ECO:0000269|PubMed:24997086, ECO:0000269|PubMed:25187204, ECO:0000269|PubMed:26006750, ECO:0000269|PubMed:26067811}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.1.32
uniprot
proteins
ec_number
2.7.1.82
uniprot
proteins
function
FUNCTION: Has a key role in phospholipid metabolism, and catalyzes the first step of phosphatidylethanolamine and phosphatidylcholine biosynthesis. {ECO:0000269|PubMed:19915674, ECO:0000269|PubMed:21665002}.
uniprot
proteins
mass_dalton
45271
uniprot
proteins
pathway_participation
PATHWAY: Phospholipid metabolism; phosphatidylethanolamine biosynthesis; phosphatidylethanolamine from ethanolamine: step 1/3. {ECO:0000305|PubMed:19915674}.
uniprot
proteins
protein_family
Choline/ethanolamine kinase family
uniprot
proteins
pubmed
10591208
uniprot
proteins
pubmed
10918069
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15461802
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19915674
uniprot
proteins
pubmed
20299452
uniprot
proteins
pubmed
21665002
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22782513
uniprot
proteins
pubmed
24997086
uniprot
proteins
pubmed
25187204
uniprot
proteins
pubmed
26006750
uniprot
proteins
pubmed
26067811
uniprot
proteins
pubmed
27138744
uniprot
proteins
sequence_length
395
uniprot
proteins