LOCUS       NM_201548               3210 bp    mRNA    linear   PRI 16-OCT-2024
DEFINITION  Homo sapiens CERK like autophagy regulator (CERKL), transcript
            variant 1, mRNA.
ACCESSION   NM_201548
VERSION     NM_201548.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3210)
  AUTHORS   Daich Varela,M., Duignan,E.S., De Silva,S.R., Ba-Abbad,R.,
            Fujinami-Yokokawa,Y., Leo,S., Fujinami,K., Mahroo,O.A.,
            Robson,A.G., Webster,A.R. and Michaelides,M.
  TITLE     CERKL-Associated Retinal Dystrophy: Genetics, Phenotype, and
            Natural History
  JOURNAL   Ophthalmol Retina 7 (10), 918-931 (2023)
   PUBMED   37331655
  REMARK    GeneRIF: CERKL-Associated Retinal Dystrophy: Genetics, Phenotype,
            and Natural History.
REFERENCE   2  (bases 1 to 3210)
  AUTHORS   Garcia-Arroyo,R., Marfany,G. and Mirra,S.
  TITLE     CERKL, a Retinal Dystrophy Gene, Regulates Mitochondrial Transport
            and Dynamics in Hippocampal Neurons
  JOURNAL   Int J Mol Sci 23 (19), 11593 (2022)
   PUBMED   36232896
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3210)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 3210)
  AUTHORS   Downes,S.M., Nguyen,T., Tai,V., Broadgate,S., Shah,M.,
            Al-Khuzaei,S., MacLaren,R.E., Shanks,M., Clouston,P. and Halford,S.
  TITLE     Genetic and Clinical Findings in an Ethnically Diverse Cohort with
            Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL
  JOURNAL   Genes (Basel) 11 (12), 1497 (2020)
   PUBMED   33322828
  REMARK    GeneRIF: Genetic and Clinical Findings in an Ethnically Diverse
            Cohort with Retinitis Pigmentosa Associated with Pathogenic
            Variants in CERKL.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3210)
  AUTHORS   Sen,P., Maitra,P., Natarajan,S., Sripriya,S., Mathavan,S.,
            Bhende,M. and Manchegowda,P.T.
  TITLE     CERKL mutation causing retinitis pigmentosa(RP) in Indian
            population - a genotype and phenotype correlation study
  JOURNAL   Ophthalmic Genet 41 (6), 570-578 (2020)
   PUBMED   32865075
  REMARK    GeneRIF: CERKL mutation causing retinitis pigmentosa(RP) in Indian
            population - a genotype and phenotype correlation study.
REFERENCE   6  (bases 1 to 3210)
  AUTHORS   Bornancin,F., Mechtcheriakova,D., Stora,S., Graf,C., Wlachos,A.,
            Devay,P., Urtz,N., Baumruker,T. and Billich,A.
  TITLE     Characterization of a ceramide kinase-like protein
  JOURNAL   Biochim Biophys Acta 1687 (1-3), 31-43 (2005)
   PUBMED   15708351
  REMARK    GeneRIF: Data suggest a functional link between CERKL, a new
            ceramide kinase homolog, and its nucleolar localization.
REFERENCE   7  (bases 1 to 3210)
  AUTHORS   Tuson,M., Marfany,G. and Gonzalez-Duarte,R.
  TITLE     Mutation of CERKL, a novel human ceramide kinase gene, causes
            autosomal recessive retinitis pigmentosa (RP26)
  JOURNAL   Am J Hum Genet 74 (1), 128-138 (2004)
   PUBMED   14681825
  REMARK    GeneRIF: Novel mutation in CERKL which encompassed 13 exons is
            identified in retinitis pigmentosa
REFERENCE   8  (bases 1 to 3210)
  AUTHORS   Sugiura,M., Kono,K., Liu,H., Shimizugawa,T., Minekura,H.,
            Spiegel,S. and Kohama,T.
  TITLE     Ceramide kinase, a novel lipid kinase. Molecular cloning and
            functional characterization
  JOURNAL   J Biol Chem 277 (26), 23294-23300 (2002)
   PUBMED   11956206
REFERENCE   9  (bases 1 to 3210)
  AUTHORS   Bayes,M., Goldaracena,B., Martinez-Mir,A., Iragui-Madoz,M.I.,
            Solans,T., Chivelet,P., Bussaglia,E., Ramos-Arroyo,M.A., Baiget,M.,
            Vilageliu,L., Balcells,S., Gonzalez-Duarte,R. and Grinberg,D.
  TITLE     A new autosomal recessive retinitis pigmentosa locus maps on
            chromosome 2q31-q33
  JOURNAL   J Med Genet 35 (2), 141-145 (1998)
   PUBMED   9507394
REFERENCE   10 (bases 1 to 3210)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK293844.1, BC137498.1,
            AY690329.1, AC020595.7 and BM969366.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_201548.4.
            
            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].
            
            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.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.181546.1,
                                           SRR1660803.6443.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2159080 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000410087.8/ ENSP00000386725.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-85                AK293844.1         4-88
            86-1604             BC137498.1         14-1532
            1605-1698           AY690329.1         1584-1677
            1699-3043           AC020595.7         65734-67078
            3044-3210           BM969366.1         15-181              c
FEATURES             Location/Qualifiers
     source          1..3210
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q31.3"
     gene            1..3210
                     /gene="CERKL"
                     /gene_synonym="RP26"
                     /note="CERK like autophagy regulator"
                     /db_xref="GeneID:375298"
                     /db_xref="HGNC:HGNC:21699"
                     /db_xref="MIM:608381"
     exon            1..337
                     /gene="CERKL"
                     /gene_synonym="RP26"
                     /inference="alignment:Splign:2.1.0"
     CDS             100..1698
                     /gene="CERKL"
                     /gene_synonym="RP26"
                     /note="isoform 1 is encoded by transcript variant 1;
                     ceramide kinase like"
                     /codon_start=1
                     /product="ceramide kinase-like protein isoform 1"
                     /protein_id="NP_963842.1"
                     /db_xref="CCDS:CCDS46466.1"
                     /db_xref="GeneID:375298"
                     /db_xref="HGNC:HGNC:21699"
                     /db_xref="MIM:608381"
                     /translation="MPWRRRRNRVSALEGGREEEAPPEAAAVPPALLTSPQQTEAAAE
                     RILLRGIFEIGRDSCDVVLSERALRWRPIQPERPAGDSKYDLLCKEEFIELKDIFSVK
                     LKRRCSVKQQRSGTLLGITLFICLKKEQNKLKNSTLDLINLSEDHCDIWFRQFKKILA
                     GFPNRPKSLKILLNPQSHKKEATQVYYEKVEPLLKLAGIKTDVTIMEYEGHALSLLKE
                     CELQGFDGVVCVGGDGSASEVAHALLLRAQKNAGMETDRILTPVRAQLPLGLIPAGST
                     NVLAHSLHGVPHVITATLHIIMGHVQLVDVCTFSTAGKLLRFGFSAMFGFGGRTLALA
                     EKYRWMSPNQRRDFAVVKALAKLKAEDCEISFLPFNSSDDVQERRAQGSPKSDCNDQW
                     QMIQGQFLNVSIMAIPCLCSVAPRGLAPNTRLNNGSMALIIARNTSRPEFIKHLKRYA
                     SVKNQFNFPFVETYTVEEVKVHPRNNTGGYNPEEEEDETASENCFPWNVDGDLMEVAS
                     EVHIRLHPRLISLYGGSMEEMIPK"
     exon            338..580
                     /gene="CERKL"
                     /gene_synonym="RP26"
                     /inference="alignment:Splign:2.1.0"
     exon            581..712
                     /gene="CERKL"
                     /gene_synonym="RP26"
                     /inference="alignment:Splign:2.1.0"
     exon            713..776
                     /gene="CERKL"
                     /gene_synonym="RP26"
                     /inference="alignment:Splign:2.1.0"
     exon            777..919
                     /gene="CERKL"
                     /gene_synonym="RP26"
                     /inference="alignment:Splign:2.1.0"
     exon            920..994
                     /gene="CERKL"
                     /gene_synonym="RP26"
                     /inference="alignment:Splign:2.1.0"
     exon            995..1172
                     /gene="CERKL"
                     /gene_synonym="RP26"
                     /inference="alignment:Splign:2.1.0"
     exon            1173..1232
                     /gene="CERKL"
                     /gene_synonym="RP26"
                     /inference="alignment:Splign:2.1.0"
     exon            1233..1258
                     /gene="CERKL"
                     /gene_synonym="RP26"
                     /inference="alignment:Splign:2.1.0"
     exon            1259..1367
                     /gene="CERKL"
                     /gene_synonym="RP26"
                     /inference="alignment:Splign:2.1.0"
     exon            1368..1464
                     /gene="CERKL"
                     /gene_synonym="RP26"
                     /inference="alignment:Splign:2.1.0"
     exon            1465..1637
                     /gene="CERKL"
                     /gene_synonym="RP26"
                     /inference="alignment:Splign:2.1.0"
     exon            1638..3210
                     /gene="CERKL"
                     /gene_synonym="RP26"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1746..1751
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CERKL"
                     /gene_synonym="RP26"
                     /note="hexamer: AAGAAA"
     polyA_site      1768
                     /gene="CERKL"
                     /gene_synonym="RP26"
     regulatory      3183..3188
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CERKL"
                     /gene_synonym="RP26"
                     /note="hexamer: TATAAA"
     polyA_site      3210
                     /gene="CERKL"
                     /gene_synonym="RP26"
                     /note="major polyA site"
ORIGIN      
        1 agcgctggac gcggctagag ctggggctgc cgcgccctcc acctccttct ccaaaggcct
       61 ccccggaccc ctggctcggg cccagcctgc gactccgcca tgccctggag gaggcgcagg
      121 aaccgggtga gtgccctgga gggcggccgg gaggaagagg cgcccccgga ggctgccgct
      181 gtgcctccgg cgctgttaac gtccccgcag cagacggagg cggcggccga gcggattctg
      241 ctccggggca tcttcgagat cgggagggac agttgtgacg tggtgctgag cgagcgagca
      301 ctgcggtggc ggcccattca gcccgagcgc ccggcgggtg attctaagta tgacttgcta
      361 tgtaaagaag aatttattga actcaaagac atattctctg tgaaactgaa acggcgttgt
      421 tctgttaaac agcagagaag tggtacttta ttaggtatca cactcttcat ctgcttgaaa
      481 aaggaacaaa ataaactaaa gaattctaca cttgatctta ttaatttaag tgaagaccac
      541 tgtgacatat ggtttagaca gttcaagaaa atattggcag gctttccaaa cagaccgaag
      601 tcattaaaaa tactccttaa cccccaaagt cacaaaaaag aagctaccca ggtttattat
      661 gagaaggttg aacctctgtt gaagcttgca ggaataaaaa ctgatgtaac aataatggaa
      721 tatgaagggc acgctctgtc actgcttaag gaatgtgaac tccagggatt tgatggtgtt
      781 gtctgtgttg gtggagatgg atctgctagc gaagtagccc atgctttgct tctgagagct
      841 cagaagaatg ctgggatgga aacagaccga atcctgactc ctgtcagagc acagcttcca
      901 cttggcttaa taccagcagg atctaccaat gtattggcac attctcttca tggagttcct
      961 catgtgataa ctgcaacatt gcacattata atggggcatg tacagctggt cgacgtctgc
     1021 accttcagca ccgctggcaa gcttcttcgc tttgggttct cagccatgtt tggctttggt
     1081 ggaagaactt tggctctggc agaaaaatat cgatggatgt cccctaacca acggagagat
     1141 tttgctgttg ttaaggcact ggcaaaactt aaggcagaag actgtgaaat atcattttta
     1201 ccatttaaca gctctgatga tgtgcaagaa aggagggcac agggatctcc caaatctgac
     1261 tgtaatgatc aatggcaaat gatccagggt cagttcttga atgtcagcat tatggcaatt
     1321 ccttgcctgt gttcagtggc acctagaggc ttggcaccta ataccagatt aaataatgga
     1381 agtatggctc ttataattgc ccgaaacact tctcggccag aatttataaa acacctgaaa
     1441 agatatgcca gtgtaaaaaa tcagttcaat tttccatttg ttgagactta cactgttgag
     1501 gaagtaaaag ttcatccaag gaataatact ggtggatata atccagagga ggaggaggat
     1561 gaaactgctt cagaaaattg tttcccttgg aatgtagatg gtgacttaat ggaagttgca
     1621 tcagaggtcc atattagatt gcatccaaga cttatcagtc tttatggagg aagcatggaa
     1681 gaaatgattc caaagtaaca tgtaattgtt tctaaaagaa atgtacaaac tagaatttta
     1741 atataaagaa atgtggccat gctttaaacc tgtggtcccc accctttttg ggaccagttt
     1801 catggaagac aatttttccg tggatggggg aatggtttca ggatgaactg ttccacctca
     1861 gatcatcagg cattagattc tcttgaggaa catggcactc tagatccctc acataccagt
     1921 tcaccatatg gttcgcactt ctatgagaat ctaatgctgc tgctgatctg acagggggag
     1981 gaactcagta atgctccatt gctctaacct cctgctgtgt ggccaaacgg atatcctaat
     2041 agaaattgat gttactaaca attagcctct agggctttaa aagtcaagat gaaatatcaa
     2101 ttcaaattct gtttttagat atcaattcaa attctttttt ttacaatgtg tttattggac
     2161 acacaaaaaa actttgcaac catcataata catcaatatt taacctagat aattctgaaa
     2221 taatttggat tctttcattt ttcaggattt gagctcatca attatgttaa atttcctata
     2281 ttctgttaca aatataatac agatttcata agtctgcctt gattcactgc tccctaatcc
     2341 agagcagtta aatttcaaaa tcacatagtt atatagccta cctgccaaaa aagaataacc
     2401 catccctgtc ttcttaaagt ggtagggttt taaaattcat gatacaagta acaaagtaag
     2461 ttgataacaa atactatttt gaactgggca aaatctagcc caatatgtaa ttgtgttccc
     2521 cttgtatctg agaggcctgt gttggacaac catagtactc tgctttcact gtgctcagat
     2581 aacctgaaat atatagttgt ttctgagtag ttctgagtag gaaagaacca aatgtaaatt
     2641 tccttagaga ccatcctgga gaagacagtt ctaaatcggg gcttgatttt tcatctatga
     2701 tcctagatgt tctcctgaaa gaatgactag cctttttata acgatacaaa gttttttaaa
     2761 aatacataaa tgtcataaag tttattcctg tgtatacaca ctctgggttc aggaggtttt
     2821 gtgcttacat ttcactactc aaatgccttc gcaaatctca gaacattcct caccatcact
     2881 gcaggcctgt gaacagataa ctttcatcaa ttaggatggc tggctagtgg cagggacttc
     2941 atataaagaa atctttccca gaattgtttt tccacattgc cttctaattt gatcactccc
     3001 tataacagat gttcaaaatt cggccacagc tctcttatga aggcagagtc agataaaatg
     3061 atattctgca attatctaga tcataagcat aaaataaata ttacaaaaat gattgtattt
     3121 aaagaaattt tttaaaatcc agaaagtcat ttaaaataga acctcatata gtatgaacaa
     3181 actataaaaa tattttacat ttcatgaaaa
//
