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    CERKL ceramide kinase like [ Homo sapiens (human) ]

    Gene ID: 375298, updated on 8-Apr-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
    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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