InnateDB Protein
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IDBP-76742.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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CERKL
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Protein Name
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ceramide kinase-like
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000364108
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InnateDB Gene
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IDBG-76736 (CERKL)
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Protein Structure
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Function |
Has no detectable ceramide-kinase activity. Overexpression of CERKL protects cells from apoptosis in oxidative stress conditions. {ECO:0000269PubMed:15708351, ECO:0000269PubMed:19158957}.
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Subcellular Localization |
Cytoplasm. Nucleus, nucleolus. Note=Enriched in nucleoli. May shuttle between nucleus and cytoplasm. Isoform 5 is not enriched in the nucleoli.Isoform 2: Cytoplasm. Nucleus, nucleolus. Golgi apparatus, trans-Golgi network. Endoplasmic reticulum.
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Disease Associations |
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:0000269PubMed:14681825, ECO:0000269PubMed:18978954}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Isoform 1 and isoform 2 are expressed in adult retina, liver and pancreas as well as in fetal brain, lung and kidney. Isoform 3 is expressed in adult retina as well as in fetal lung and liver. Isoform 4 is expressed in adult retina, lung and kidney as well as in fetal lung and liver. Moderately expressed in retina, kidney, lung, testis, trachea, and pancreas. Weakly expressed in brain, placenta and liver. {ECO:0000269PubMed:14681825, ECO:0000269PubMed:15708351, ECO:0000269PubMed:19158957}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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Molecular Function |
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Biological Process |
GO:0007205
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protein kinase C-activating G-protein coupled receptor signaling pathway
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GO:0016310
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phosphorylation
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GO:0043066
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negative regulation of apoptotic process
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q49MI3
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PhosphoSite |
PhosphoSite-Q49MI3
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TrEMBL |
G0XYE8
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UniProt Splice Variant |
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Entrez Gene |
375298
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UniGene |
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RefSeq |
NP_001025483
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HUGO |
HGNC:21699
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OMIM |
608381
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CCDS |
CCDS33340
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HPRD |
09757
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IMGT |
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EMBL |
AC013733
AC020595
AJ640141
AJ697855
AJ697856
AJ697858
AK129976
AK293844
AY357073
AY690329
AY690330
AY690331
AY690332
AY690333
BC137498
BC137499
CH471058
HQ426669
HQ426670
HQ426675
HQ426676
HQ426679
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GenPept |
AAI37499
AAI37500
AAR13670
AAW47988
AAW47989
AAW47990
AAW47991
AAW47992
AEK85686
AEK85687
AEK85688
AEK85689
AEK85690
BAC85266
BAG57242
CAG26695
CAG26977
CAG26978
CAG26980
EAX10984
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