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CERKL ceramide kinase like [ Homo sapiens (human) ]

Gene ID: 375298, updated on 8-Jul-2018
Official Symbol
CERKLprovided by HGNC
Official Full Name
ceramide kinase likeprovided by HGNC
Primary source
HGNC:HGNC:21699
See related
Ensembl:ENSG00000188452 MIM:608381; Vega:OTTHUMG00000154315
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RP26
Summary
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]
Expression
Broad expression in lymph node (RPKM 16.6), appendix (RPKM 16.2) and 20 other tissues See more
Orthologs
See CERKL in Genome Data Viewer
Location:
2q31.3
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (181536672..181657107, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (182401399..182521834, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985831 Neighboring gene long intergenic non-protein coding RNA 1934 Neighboring gene microRNA 4437 Neighboring gene integrin subunit alpha 4 Neighboring gene neuronal differentiation 1 Neighboring gene SAP18 pseudogene 2

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Retinitis pigmentosa 26 Compare labs

NHGRI GWAS Catalog

Description
Gene network analysis in a pediatric cohort identifies novel lung function genes.
NHGRI GWA Catalog
Multiple loci are associated with white blood cell phenotypes.
NHGRI GWA Catalog
Whole genome association study identifies polymorphisms associated with QT prolongation during iloperidone treatment of schizophrenia.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NAD+ kinase activity IEA
Inferred from Electronic Annotation
more info
 
sphingolipid binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
phosphorylation IEA
Inferred from Electronic Annotation
more info
 
sphingolipid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
nucleolus IEA
Inferred from Electronic Annotation
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
photoreceptor inner segment IEA
Inferred from Electronic Annotation
more info
 
photoreceptor outer segment IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
ceramide kinase-like protein

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_021178.1 RefSeqGene

    Range
    5001..125436
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001030311.2NP_001025482.1  ceramide kinase-like protein isoform 2

    See identical proteins and their annotated locations for NP_001025482.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (2).
    Source sequence(s)
    AC020595, AK293844, AY690329, BM969366
    Consensus CDS
    CCDS42789.1
    UniProtKB/Swiss-Prot
    Q49MI3
    Related
    ENSP00000341159.5, OTTHUMP00000205494, ENST00000339098.9, OTTHUMT00000334811
    Conserved Domains (2) summary
    PLN02204
    Location:148553
    PLN02204; diacylglycerol kinase
    COG1597
    Location:167550
    LCB5; Diacylglycerol kinase family enzyme [Lipid transport and metabolism, General function prediction only]
  2. NM_001030312.2NP_001025483.1  ceramide kinase-like protein isoform 3

    See identical proteins and their annotated locations for NP_001025483.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks four alternate in-frame exons in the central coding region, compared to variant 2. The resulting isoform (3) lacks an internal segment, compared to isoform 2.
    Source sequence(s)
    AC020595, AK293844, AY690330, BM969366
    Consensus CDS
    CCDS33340.1
    UniProtKB/Swiss-Prot
    Q49MI3
    Related
    ENSP00000364108.2, OTTHUMP00000205492, ENST00000374969.6, OTTHUMT00000334809
    Conserved Domains (1) summary
    cl01255
    Location:151414
    DAGK_cat; Diacylglycerol kinase catalytic domain
  3. NM_001030313.2NP_001025484.1  ceramide kinase-like protein isoform 4

    See identical proteins and their annotated locations for NP_001025484.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks three alternate in-frame exons in the central coding region, compared to variant 2. The resulting isoform (4) lacks an internal segment, compared to isoform 2.
    Source sequence(s)
    AC020595, AK293844, AY690331, BM969366
    Consensus CDS
    CCDS33341.1
    UniProtKB/Swiss-Prot
    Q49MI3
    Related
    ENSP00000364109.2, OTTHUMP00000205495, ENST00000374970.6, OTTHUMT00000334812
    Conserved Domains (1) summary
    cl01255
    Location:206458
    DAGK_cat; Diacylglycerol kinase catalytic domain
  4. NM_001160277.1NP_001153749.1  ceramide kinase-like protein isoform 7

    See identical proteins and their annotated locations for NP_001153749.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks one alternate in-frame exon in the central coding region, compared to variant 2. The resulting isoform (7) lacks an internal segment, compared to isoform 2.
    Source sequence(s)
    AC020595, AK293844, AY690329, BC137498, BM969366
    Consensus CDS
    CCDS54425.1
    UniProtKB/Swiss-Prot
    Q49MI3
    Related
    ENSP00000387080.3, OTTHUMP00000205491, ENST00000409440.7, OTTHUMT00000334808
    Conserved Domains (2) summary
    pfam00781
    Location:163290
    DAGK_cat; Diacylglycerol kinase catalytic domain
    cl01255
    Location:250509
    DAGK_cat; Diacylglycerol kinase catalytic domain
  5. NM_201548.4NP_963842.1  ceramide kinase-like protein isoform 1

    See identical proteins and their annotated locations for NP_963842.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) lacks one alternate in-frame exon in the central coding region, compared to variant 2. The resulting isoform (1) lacks an internal segment, compared to isoform 2.
    Source sequence(s)
    AC020595, AK293844, AY690329, BC137498, BM969366
    Consensus CDS
    CCDS46466.1
    UniProtKB/Swiss-Prot
    Q49MI3
    Related
    ENSP00000386725.3, OTTHUMP00000205490, ENST00000410087.7, OTTHUMT00000334807
    Conserved Domains (1) summary
    PLN02204
    Location:148527
    PLN02204; diacylglycerol kinase

RNA

  1. NR_027689.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks two alternate internal exons, compared to variant 2. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC020595, AK293844, AY690332, BM969366
  2. NR_027690.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks one alternate internal exon, compared to variant 2. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC020595, AK293844, AY690333, BM969366

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    181536672..181657107 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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