CERKL
entrez
375298
canonical
uniprot
Q49MI3
canonical
ensembl
ENSG00000188452
resolver
ensp
ENSP00000341159
resolver
ensp
ENSP00000364108
resolver
ensp
ENSP00000364109
resolver
ensp
ENSP00000386725
resolver
ensp
ENSP00000387080
resolver
genesymbol
CERKL
resolver
hgnc
HGNC:21699
resolver
uniprot
B2RPL2
resolver
uniprot
B4DEY1
resolver
uniprot
Q49MH9
resolver
uniprot
Q49MI0
resolver
uniprot
Q49MI1
resolver
uniprot
Q49MI2
resolver
uniprot
Q5DVJ2
resolver
uniprot
Q5DVJ4
resolver
uniprot
Q5DVJ5
resolver
uniprot
Q6UZF6
resolver
uniprot
Q6ZP59
resolver
uniprot_entry
CERKL_HUMAN
resolver
uniprot_sec
B2RPL2
resolver
uniprot_sec
B4DEY1
resolver
uniprot_sec
Q49MH9
resolver
uniprot_sec
Q49MI0
resolver
uniprot_sec
Q49MI1
resolver
uniprot_sec
Q49MI2
resolver
uniprot_sec
Q5DVJ2
resolver
uniprot_sec
Q5DVJ4
resolver
uniprot_sec
Q5DVJ5
resolver
uniprot_sec
Q6UZF6
resolver
uniprot_sec
Q6ZP59
resolver
amino_acid_sequence
MPWRRRRNRVSALEGGREEEAPPEAAAVPPALLTSPQQTEAAAERILLRGIFEIGRDSCDVVLSERALRWRPIQPERPAGDSKYDLLCKEEFIELKDIFSVKLKRRCSVKQQRSGTLLGITLFICLKKEQNKLKNSTLDLINLSEDHCDIWFRQFKKILAGFPNRPKSLKILLNPQSHKKEATQVYYEKVEPLLKLAGIKTDVTIMEYEGHALSLLKECELQGFDGGHRKPLFAIHWSVQRLFTGMQTLEPSVVCVGGDGSASEVAHALLLRAQKNAGMETDRILTPVRAQLPLGLIPAGSTNVLAHSLHGVPHVITATLHIIMGHVQLVDVCTFSTAGKLLRFGFSAMFGFGGRTLALAEKYRWMSPNQRRDFAVVKALAKLKAEDCEISFLPFNSSDDVQERRAQGSPKSDCNDQWQMIQGQFLNVSIMAIPCLCSVAPRGLAPNTRLNNGSMALIIARNTSRPEFIKHLKRYASVKNQFNFPFVETYTVEEVKVHPRNNTGGYNPEEEEDETASENCFPWNVDGDLMEVASEVHIRLHPRLISLYGGSMEEMIPK
uniprot
proteins
disease_involvement
DISEASE: Retinitis pigmentosa 26 (RP26) [MIM:608380]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:14681825, ECO:0000269|PubMed:18978954}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Has no detectable ceramide-kinase activity. Overexpression of CERKL protects cells from apoptosis in oxidative stress conditions. {ECO:0000269|PubMed:15708351, ECO:0000269|PubMed:19158957}.
uniprot
proteins
mass_dalton
62622
uniprot
proteins
mutagenesis
MUTAGEN 104..106; /note="KRR->GGG: Only cytoplasmic."; /evidence="ECO:0000269|PubMed:19501188"; MUTAGEN 260; /note="G->D: Loss of nuclear localization; in isoform 2."; /evidence="ECO:0000269|PubMed:15708351
uniprot
proteins
post_translational_modification
PTM: Phosphorylated on serine residues. {ECO:0000269|PubMed:15708351}.
uniprot
proteins
pubmed
14681825
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15708351
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
18978954
uniprot
proteins
pubmed
19158957
uniprot
proteins
pubmed
19501188
uniprot
proteins
sequence_length
558
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm. Nucleus, nucleolus. Note=Enriched in nucleoli. May shuttle between nucleus and cytoplasm. Isoform 5 is not enriched in the nucleoli.; SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm. Nucleus, nucleolus. Golgi apparatus, trans-Golgi network. Endoplasmic reticulum.
uniprot
proteins