InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CERKL

Summary

InnateDB Protein

IDBP-76746.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CERKL

Protein Name

ceramide kinase-like

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000341159

InnateDB Gene

IDBG-76736 (CERKL)

Protein Structure

UniProt Annotation

Function

Has no detectable ceramide-kinase activity. Overexpression of CERKL protects cells from apoptosis in oxidative stress conditions. {ECO:0000269PubMed:15708351, ECO:0000269PubMed:19158957}.

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.

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.

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}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003951	NAD+ kinase activity
GO:0004143	diacylglycerol kinase activity

Biological Process

GO:0007205	protein kinase C-activating G-protein coupled receptor signaling pathway
GO:0016310	phosphorylation
GO:0043066	negative regulation of apoptotic process