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    CERKL ceramide kinase-like [ Homo sapiens (human) ]

    Gene ID: 375298, updated on 1-Aug-2015
    Official Symbol
    CERKLprovided by HGNC
    Official Full Name
    ceramide kinase-likeprovided by HGNC
    Primary source
    HGNC:HGNC:21699
    See related
    Ensembl:ENSG00000188452; HPRD:09757; 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]
    Orthologs
    See CERKL in Epigenomics, MapViewer
    Location:
    2q31.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 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 ubiquitin-conjugating enzyme E2E 3 Neighboring gene uncharacterized LOC101927156 Neighboring gene microRNA 4437 Neighboring gene integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) Neighboring gene neuronal differentiation 1 Neighboring gene SAP18 pseudogene 2

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Retinitis pigmentosa 26
    MedGen: C1842127 OMIM: 608380 GeneReviews: Retinitis Pigmentosa Overview
    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

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    negative regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleolus 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
      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
      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
      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
      Conserved Domains (2) summary
      pfam00781
      Location:209288
      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, OTTHUMP00000205490, ENST00000410087, OTTHUMT00000334807
      Conserved Domains (2) summary
      PLN02204
      Location:148527
      PLN02204; diacylglycerol kinase
      COG1597
      Location:167524
      LCB5; Diacylglycerol kinase family enzyme [Lipid transport and metabolism, General function prediction only]

    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 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p2 Primary Assembly

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      182406604..182527616
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)