Human Gene CERKL (ENST00000409440.7) Description and Page Index
  Description: Homo sapiens ceramide kinase like (CERKL), transcript variant 7, mRNA. (from RefSeq NM_001160277)
RefSeq Summary (NM_001160277): This gene was initially identified as a locus (RP26) associated with an autosomal recessive form of retinitis pigmentosa (arRP) disease. This gene encodes a protein with ceramide kinase-like domains, however, the protein does not phosphorylate ceramide and its target substrate is currently unknown. This protein may be a negative regulator of apoptosis in photoreceptor cells. Mutations in this gene cause a form of retinitis pigmentosa characterized by autosomal recessive cone and rod dystrophy (arCRD). Alternative splicing of this gene results in multiple transcript variants encoding different isoforms and non-coding transcripts.[provided by RefSeq, May 2010].
Gencode Transcript: ENST00000409440.7
Gencode Gene: ENSG00000188452.14
Transcript (Including UTRs)
   Position: hg38 chr2:181,537,405-181,657,107 Size: 119,703 Total Exon Count: 13 Strand: -
Coding Region
   Position: hg38 chr2:181,538,184-181,657,006 Size: 118,823 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesGeneReviewsMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:181,537,405-181,657,107)mRNA (may differ from genome)Protein (514 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaBioGPSCGAP
EnsemblEntrez GeneExonPrimerGeneCardsHGNCLynx
MGIneXtProtOMIMPubMedStanford SOURCEUniProtKB

-  Comments and Description Text from UniProtKB
  ID: CERKL_HUMAN
DESCRIPTION: RecName: Full=Ceramide kinase-like protein;
FUNCTION: Has no detectable ceramide-kinase activity. Overexpression of CERKL protects cells from apoptosis in oxidative stress conditions.
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.
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.
DEVELOPMENTAL STAGE: Expressed in fetal lung, kidney and brain.
PTM: Phosphorylated on serine residues.
DISEASE: Defects in CERKL are the cause of retinitis pigmentosa type 26 (RP26) [MIM:608380]. RP leads to degeneration of retinal photoreceptor cells. 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. RP26 inheritance is autosomal recessive.
SIMILARITY: Contains 1 DAGKc domain.
SEQUENCE CAUTION: Sequence=BAC85266.1; Type=Erroneous translation; Note=Wrong choice of CDS; Sequence=CAG26980.1; Type=Frameshift; Positions=Several;

-  MalaCards Disease Associations
  MalaCards Gene Search: CERKL
Diseases sorted by gene-association score: retinitis pigmentosa 26* (1247), cerkl-related retinitis pigmentosa* (500), retinitis pigmentosa* (216), retinitis (17), fundus dystrophy (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 13.23 RPKM in Spleen
Total median expression: 77.03 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -43.30101-0.429 Picture PostScript Text
3' UTR -195.30779-0.251 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001206 - Diacylglycerol_kinase_cat_dom

Pfam Domains:
PF00781 - Diacylglycerol kinase catalytic domain

ModBase Predicted Comparative 3D Structure on Q49MI3
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003951 NAD+ kinase activity
GO:0016301 kinase activity
GO:0046625 sphingolipid binding

Biological Process:
GO:0008152 metabolic process
GO:0016310 phosphorylation
GO:0030148 sphingolipid biosynthetic process
GO:0043066 negative regulation of apoptotic process

Cellular Component:
GO:0001750 photoreceptor outer segment
GO:0001917 photoreceptor inner segment
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0048471 perinuclear region of cytoplasm


-  Descriptions from all associated GenBank mRNAs
  HQ426678 - Homo sapiens clone 22 ceramide kinase-like isoform 8 mRNA, complete cds.
JF290420 - Homo sapiens ceramide kinase-like protein isoform 8 mRNA, complete cds.
AJ697857 - Homo sapiens partial mRNA for ceramide kinase-like protein (CERKL gene), variant 3.
AK129976 - Homo sapiens cDNA FLJ26466 fis, clone KDN04258.
AJ640141 - Homo sapiens mRNA for ceramide kinase-like protein (CERKL gene).
BC137498 - Homo sapiens ceramide kinase-like, mRNA (cDNA clone MGC:169121 IMAGE:9021498), complete cds.
BC137499 - Homo sapiens ceramide kinase-like, mRNA (cDNA clone MGC:169122 IMAGE:9021499), complete cds.
AK293844 - Homo sapiens cDNA FLJ60451 complete cds, highly similar to Ceramide kinase-like protein.
HQ426679 - Homo sapiens clone 23 ceramide kinase-like isoform 23 mRNA, complete cds.
HQ426671 - Homo sapiens clone 15 ceramide kinase-like isoform 8 mRNA, complete cds.
HQ426672 - Homo sapiens clone 16 ceramide kinase-like isoform 8 mRNA, complete cds.
HQ426673 - Homo sapiens clone 17 ceramide kinase-like isoform 8 mRNA, complete cds.
HQ426674 - Homo sapiens clone 18 ceramide kinase-like isoform 8 mRNA, complete cds.
HQ426675 - Homo sapiens clone 19 ceramide kinase-like isoform 9 mRNA, complete cds.
HQ426676 - Homo sapiens clone 20 ceramide kinase-like isoform 9 mRNA, complete cds.
HQ426666 - Homo sapiens clone 10 ceramide kinase-like isoform 8 mRNA, complete cds.
HQ426667 - Homo sapiens clone 11 ceramide kinase-like isoform 8 mRNA, complete cds.
HQ426668 - Homo sapiens clone 12 ceramide kinase-like isoform 8 mRNA, complete cds.
HQ426669 - Homo sapiens clone 13 ceramide kinase-like isoform 9 mRNA, complete cds.
HQ426670 - Homo sapiens clone 14 ceramide kinase-like isoform 9 mRNA, complete cds.
HQ426677 - Homo sapiens clone 21 ceramide kinase-like isoform 8 mRNA, complete cds.
AJ697855 - Homo sapiens mRNA for ceramide kinase-like protein (CERKL gene), variant 1.
AY357073 - Homo sapiens ceramide kinase-like protein isoform a (CERKL) mRNA, complete cds, alternatively spliced.
AY690329 - Homo sapiens ceramide kinase-like protein isoform b (CERKL) mRNA, complete cds, alternatively spliced.
AY690330 - Homo sapiens ceramide kinase-like protein isoform c (CERKL) mRNA, complete cds, alternatively spliced.
AY690331 - Homo sapiens ceramide kinase-like protein isoform d (CERKL) mRNA, complete cds, alternatively spliced.
AY690332 - Homo sapiens ceramide kinase-like protein isoform e (CERKL) mRNA, complete cds, alternatively spliced.
AY690333 - Homo sapiens ceramide kinase-like protein isoform f (CERKL) mRNA, complete cds, alternatively spliced.
AJ697858 - Homo sapiens mRNA for ceramide kinase-like protein (CERKL gene), variant 4.
KJ900675 - Synthetic construct Homo sapiens clone ccsbBroadEn_10069 CERKL gene, encodes complete protein.
KR712011 - Synthetic construct Homo sapiens clone CCSBHm_00034661 CERKL (CERKL) mRNA, encodes complete protein.
AJ697856 - Homo sapiens mRNA for ceramide kinase-like protein (CERKL gene), variant 2.

-  Other Names for This Gene
  Alternate Gene Symbols: B2RPL2, B4DEY1, CERKL_HUMAN, NM_001160277, Q49MH9, Q49MI0, Q49MI1, Q49MI2, Q49MI3, Q5DVJ2, Q5DVJ4, Q5DVJ5, Q6UZF6, Q6ZP59, uc010zfm.1, uc010zfm.2, uc010zfm.3
UCSC ID: uc010zfm.3
RefSeq Accession: NM_001160277
Protein: Q49MI3 (aka CERKL_HUMAN)
CCDS: CCDS54425.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene CERKL:
rp-overview (Nonsyndromic Retinitis Pigmentosa Overview)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.