LOCUS       NM_018294               2591 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens CWF19 like cell cycle control factor 1 (CWF19L1),
            transcript variant 1, mRNA.
ACCESSION   NM_018294
VERSION     NM_018294.6
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 2591)
  AUTHORS   Phulpagar,P., Holla,V.V., Tomar,D., Kamble,N., Yadav,R., Pal,P.K.
            and Muthusamy,B.
  TITLE     Novel CWF19L1 mutations in patients with spinocerebellar ataxia,
            autosomal recessive 17
  JOURNAL   J Hum Genet 68 (12), 859-866 (2023)
   PUBMED   37752213
  REMARK    GeneRIF: Novel CWF19L1 mutations in patients with spinocerebellar
            ataxia, autosomal recessive 17.
REFERENCE   2  (bases 1 to 2591)
  AUTHORS   Alvarez,C., Grimmel,M., Ebrahimi-Fakhari,D., Paul,V.G.,
            Deininger,N., Riess,A., Haack,T., Gardella,E., Moller,R.S. and
            Bayat,A.
  TITLE     Expansion of the phenotypic and molecular spectrum of
            CWF19L1-related disorder
  JOURNAL   Clin Genet 103 (5), 566-573 (2023)
   PUBMED   36453471
  REMARK    GeneRIF: Expansion of the phenotypic and molecular spectrum of
            CWF19L1-related disorder.
            Review article
REFERENCE   3  (bases 1 to 2591)
  AUTHORS   Ruan,M., Wang,H., Zhu,M., Sun,R., Shi,J., Wang,Q., Chen,Y., Wang,Y.
            and Wang,D.
  TITLE     Heterozygous pathogenic variants in CWF19L1 in a Chinese family
            with spinocerebellar ataxia, autosomal recessive 17
  JOURNAL   J Clin Lab Anal 36 (12), e24767 (2022)
   PUBMED   36357319
  REMARK    GeneRIF: Heterozygous pathogenic variants in CWF19L1 in a Chinese
            family with spinocerebellar ataxia, autosomal recessive 17.
REFERENCE   4  (bases 1 to 2591)
  AUTHORS   Algahtani,H., Shirah,B., Almatrafi,S., Al-Qahtani,M.H.,
            Abdulkareem,A.A. and Naseer,M.I.
  TITLE     A Novel Variant in CWF19L1 Gene in a Family with Late-Onset
            Autosomal Recessive Cerebellar Ataxia 17
  JOURNAL   Neurol Res 43 (2), 141-147 (2021)
   PUBMED   33012273
  REMARK    GeneRIF: A Novel Variant in CWF19L1 Gene in a Family with
            Late-Onset Autosomal Recessive Cerebellar Ataxia 17.
REFERENCE   5  (bases 1 to 2591)
  AUTHORS   Masaki,S., Yoshimoto,R., Kaida,D., Hata,A., Satoh,T., Ohno,M. and
            Kataoka,N.
  TITLE     Identification of the specific interactors of the human lariat RNA
            debranching enzyme 1 protein
  JOURNAL   Int J Mol Sci 16 (2), 3705-3721 (2015)
   PUBMED   25671812
  REMARK    GeneRIF: Results of protein-protein interaction between human Dbr1
            and factors found in the Intron Large complex identify Xab2 and a
            novel protein CWF19L1 as specific interactors of DBR1.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2591)
  AUTHORS   Burns,R., Majczenko,K., Xu,J., Peng,W., Yapici,Z., Dowling,J.J.,
            Li,J.Z. and Burmeister,M.
  TITLE     Homozygous splice mutation in CWF19L1 in a Turkish family with
            recessive ataxia syndrome
  JOURNAL   Neurology 83 (23), 2175-2182 (2014)
   PUBMED   25361784
  REMARK    GeneRIF: CWF19L1 mutations may be a novel cause of recessive ataxia
            with developmental delay
REFERENCE   7  (bases 1 to 2591)
  AUTHORS   Feitosa,M.F., Wojczynski,M.K., North,K.E., Zhang,Q., Province,M.A.,
            Carr,J.J. and Borecki,I.B.
  TITLE     The ERLIN1-CHUK-CWF19L1 gene cluster influences liver fat
            deposition and hepatic inflammation in the NHLBI Family Heart Study
  JOURNAL   Atherosclerosis 228 (1), 175-180 (2013)
   PUBMED   23477746
  REMARK    GeneRIF: Our findings suggest ERLIN1-CHUK-CWF19L1 variants are
            associated with early stage of fatty liver accumulation to hepatic
            inflammation.
REFERENCE   8  (bases 1 to 2591)
  AUTHORS   Hosgood,H.D. 3rd, Zhang,L., Shen,M., Berndt,S.I., Vermeulen,R.,
            Li,G., Yin,S., Yeager,M., Yuenger,J., Rothman,N., Chanock,S.,
            Smith,M. and Lan,Q.
  TITLE     Association between genetic variants in VEGF, ERCC3 and
            occupational benzene haematotoxicity
  JOURNAL   Occup Environ Med 66 (12), 848-853 (2009)
   PUBMED   19773279
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 2591)
  AUTHORS   Grupe,A., Li,Y., Rowland,C., Nowotny,P., Hinrichs,A.L., Smemo,S.,
            Kauwe,J.S., Maxwell,T.J., Cherny,S., Doil,L., Tacey,K., van
            Luchene,R., Myers,A., Wavrant-De Vrieze,F., Kaleem,M.,
            Hollingworth,P., Jehu,L., Foy,C., Archer,N., Hamilton,G.,
            Holmans,P., Morris,C.M., Catanese,J., Sninsky,J., White,T.J.,
            Powell,J., Hardy,J., O'Donovan,M., Lovestone,S., Jones,L.,
            Morris,J.C., Thal,L., Owen,M., Williams,J. and Goate,A.
  TITLE     A scan of chromosome 10 identifies a novel locus showing strong
            association with late-onset Alzheimer disease
  JOURNAL   Am J Hum Genet 78 (1), 78-88 (2006)
   PUBMED   16385451
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   10 (bases 1 to 2591)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC299678.1, AK001860.1,
            BM476132.1, DB524268.1 and AK097895.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_018294.5.
            
            Summary: This gene encodes a member of the CWF19 protein family.
            Mutations in this gene have been associated with autosomal
            recessive spinocerebellar ataxia-17 and mild cognitive disability.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Dec 2014].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            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 :: SRR1803616.269548.1,
                                           SRR5189661.58003.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000354105.10/ ENSP00000326411.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-11                DC299678.1         44-54
            12-1774             AK001860.1         1-1763
            1775-2224           BM476132.1         192-641
            2225-2483           DB524268.1         226-484
            2484-2591           AK097895.1         2294-2401
FEATURES             Location/Qualifiers
     source          1..2591
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.31"
     gene            1..2591
                     /gene="CWF19L1"
                     /gene_synonym="C19L1; hDrn1; SCAR17"
                     /note="CWF19 like cell cycle control factor 1"
                     /db_xref="GeneID:55280"
                     /db_xref="HGNC:HGNC:25613"
                     /db_xref="MIM:616120"
     exon            1..68
                     /gene="CWF19L1"
                     /gene_synonym="C19L1; hDrn1; SCAR17"
                     /inference="alignment:Splign:2.1.0"
     CDS             46..1662
                     /gene="CWF19L1"
                     /gene_synonym="C19L1; hDrn1; SCAR17"
                     /note="isoform 1 is encoded by transcript variant 1;
                     CWF19-like protein 1; CWF19-like 1 cell cycle control;
                     CWF19 like 1, cell cycle control; human Dbr1 associated
                     ribonuclease 1"
                     /codon_start=1
                     /product="CWF19-like protein 1 isoform 1"
                     /protein_id="NP_060764.3"
                     /db_xref="CCDS:CCDS7489.1"
                     /db_xref="GeneID:55280"
                     /db_xref="HGNC:HGNC:25613"
                     /db_xref="MIM:616120"
                     /translation="MAQKPLRLLACGDVEGKFDILFNRVQAIQKKSGNFDLLLCVGNF
                     FGSTQDAEWEEYKTGIKKAPIQTYVLGANNQETVKYFQDADGCELAENITYLGRKGIF
                     TGSSGLQIVYLSGTESLNEPVPGYSFSPKDVSSLRMMLCTTSQFKGVDILLTSPWPKC
                     VGNFGNSSGEVDTKKCGSALVSSLATGLKPRYHFAALEKTYYERLPYRNHIILQENAQ
                     HATRFIALANVGNPEKKKYLYAFSIVPMKLMDAAELVKQPPDVTENPYRKSGQEASIG
                     KQILAPVEESACQFFFDLNEKQGRKRSSTGRDSKSSPHPKQPRKPPQPPGPCWFCLAS
                     PEVEKHLVVNIGTHCYLALAKGGLSDDHVLILPIGHYQSVVELSAEVVEEVEKYKATL
                     RRFFKSRGKWCVVFERNYKSHHLQLQVIPVPISCSTTDDIKDAFITQAQEQQIELLEI
                     PEHSDIKQIAQPGAAYFYVELDTGEKLFHRIKKNFPLQFGREVLASEAILNVPDKSDW
                     RQCQISKEDEETLARRFRKDFEPYDFTLDD"
     exon            69..153
                     /gene="CWF19L1"
                     /gene_synonym="C19L1; hDrn1; SCAR17"
                     /inference="alignment:Splign:2.1.0"
     exon            154..232
                     /gene="CWF19L1"
                     /gene_synonym="C19L1; hDrn1; SCAR17"
                     /inference="alignment:Splign:2.1.0"
     exon            233..334
                     /gene="CWF19L1"
                     /gene_synonym="C19L1; hDrn1; SCAR17"
                     /inference="alignment:Splign:2.1.0"
     exon            335..549
                     /gene="CWF19L1"
                     /gene_synonym="C19L1; hDrn1; SCAR17"
                     /inference="alignment:Splign:2.1.0"
     exon            550..668
                     /gene="CWF19L1"
                     /gene_synonym="C19L1; hDrn1; SCAR17"
                     /inference="alignment:Splign:2.1.0"
     exon            669..753
                     /gene="CWF19L1"
                     /gene_synonym="C19L1; hDrn1; SCAR17"
                     /inference="alignment:Splign:2.1.0"
     exon            754..894
                     /gene="CWF19L1"
                     /gene_synonym="C19L1; hDrn1; SCAR17"
                     /inference="alignment:Splign:2.1.0"
     exon            895..1009
                     /gene="CWF19L1"
                     /gene_synonym="C19L1; hDrn1; SCAR17"
                     /inference="alignment:Splign:2.1.0"
     exon            1010..1089
                     /gene="CWF19L1"
                     /gene_synonym="C19L1; hDrn1; SCAR17"
                     /inference="alignment:Splign:2.1.0"
     exon            1090..1299
                     /gene="CWF19L1"
                     /gene_synonym="C19L1; hDrn1; SCAR17"
                     /inference="alignment:Splign:2.1.0"
     exon            1300..1419
                     /gene="CWF19L1"
                     /gene_synonym="C19L1; hDrn1; SCAR17"
                     /inference="alignment:Splign:2.1.0"
     exon            1420..1517
                     /gene="CWF19L1"
                     /gene_synonym="C19L1; hDrn1; SCAR17"
                     /inference="alignment:Splign:2.1.0"
     exon            1518..2591
                     /gene="CWF19L1"
                     /gene_synonym="C19L1; hDrn1; SCAR17"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2468..2473
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CWF19L1"
                     /gene_synonym="C19L1; hDrn1; SCAR17"
                     /note="hexamer: AATAAA"
     polyA_site      2490
                     /gene="CWF19L1"
                     /gene_synonym="C19L1; hDrn1; SCAR17"
                     /note="major polyA site"
     regulatory      2564..2569
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CWF19L1"
                     /gene_synonym="C19L1; hDrn1; SCAR17"
                     /note="hexamer: AATGAA"
     polyA_site      2574
                     /gene="CWF19L1"
                     /gene_synonym="C19L1; hDrn1; SCAR17"
     polyA_site      2591
                     /gene="CWF19L1"
                     /gene_synonym="C19L1; hDrn1; SCAR17"
                     /note="major polyA site"
ORIGIN      
        1 attcccaatt ttaggtggca gtcgcaaccc atactattcg gacagatggc acagaaaccg
       61 ctgcgcctct tggcttgtgg agatgttgaa ggaaagtttg atattttatt caatagagtt
      121 caagcaattc agaagaaaag tggaaacttt gatctgctgt tgtgtgtagg aaatttcttt
      181 ggctccaccc aagatgctga atgggaggag tataagactg gcatcaagaa agctcctatt
      241 cagacatatg tgcttggtgc taataaccag gaaacagtaa aatatttcca ggatgctgat
      301 ggatgtgaat tagctgaaaa cattacttat ctgggtcgta aaggtatctt cactggaagc
      361 tcggggctgc agattgtgta cctcagtggg acagaatcct taaatgagcc agtaccaggt
      421 tatagtttta gtcccaagga tgtgtcttct ctgagaatga tgctgtgtac aacctcccag
      481 tttaagggtg ttgatatctt gctcacatcc ccatggccca agtgtgtggg gaactttggg
      541 aattcttctg gagaagtgga taccaaaaaa tgtggttctg ctttggtttc cagtcttgcc
      601 acgggcttga aaccaagata ccattttgct gctttggaaa agacctatta tgagaggctt
      661 ccatatcgaa accatatcat tctacaggaa aatgcacagc atgccacccg gtttatagct
      721 ctggcaaatg ttggaaatcc agaaaagaaa aagtatcttt acgcgttcag tattgttccc
      781 atgaagctaa tggatgcagc agaactggta aaacagcctc cggatgtcac tgaaaaccct
      841 tacagaaaat ctgggcagga agcatccata ggaaagcaaa ttcttgcccc tgtggaagaa
      901 tcagcctgtc agtttttctt tgatttaaat gaaaagcagg gaaggaagcg ttcatccaca
      961 ggtagagata gcaaatcttc tcctcatcca aagcagcctc gcaaacctcc tcagcctcca
     1021 ggaccctgct ggttttgcct tgctagccct gaagtggaaa aacatttggt ggtcaacatc
     1081 ggcacacatt gctaccttgc cctggccaaa ggaggcttat ctgatgacca tgtcctcatc
     1141 ctgcctattg gacactacca gtcagtggtg gagctttcag cagaggtggt agaagaggtg
     1201 gagaagtata aggccactct gagacggttc tttaagagtc gagggaaatg gtgtgttgta
     1261 tttgagagaa attataagag ccatcacctc cagctacagg tcattcctgt cccaatcagc
     1321 tgctctacta ctgatgacat taaagatgcc ttcattaccc aggcacagga gcagcagata
     1381 gagctgttgg aaatcccaga gcactctgac atcaagcaga ttgcacagcc aggagcagca
     1441 tatttttatg ttgaacttga cacaggagaa aagcttttcc acagaattaa aaagaatttt
     1501 cctttgcagt ttggaaggga ggtcctggcc agtgaagcca tccttaatgt tcctgataag
     1561 tctgactgga ggcagtgtca gatcagcaag gaagacgagg agaccctggc tcgccgcttc
     1621 cggaaagact ttgagcccta tgactttact ctggatgact aaaacaaagg gaagaacttt
     1681 ttatgaactc cacaggaagt agtaaagctt tttttttttt ttaattaaaa gaattttttt
     1741 tgagacaaag tctcgctctg tcacccaagc aggattgcag tggcataact gtggctcact
     1801 gtagcctcaa cctcctgggc tctagagttc ctcccacctc agcctcatga gtagctggga
     1861 ccacaggcgc atgctaccat gcctggcaaa cttttttgat tttttataga gacaggaggg
     1921 tctccctgtg ttgcccaggc tggtctgtaa tgcctaggct caagggatcc tctgccttgg
     1981 cttcttaacc tgctgggatt acaagcatga gacaccattc ctggcctaga agcctatttt
     2041 taaagaaact acaatctccc atggggactg tttccctgcc tcttttgtgc agtcccatgg
     2101 aacttgccta cagcaagagg cctaagattg aatctttttg gggaaaagtc attctaggat
     2161 gaaaatccta tgttaaggcc gggcgcagtg gctcacgcct gtaatcccag tactttggga
     2221 agccgaggca ggtggatcac ctgaggtgag gagtttgaga ccagcctggc caacatggtg
     2281 aaaccccgtc tttactaaag ctacaaaaat tagctgggcg tggtgccagg cacttgtaat
     2341 cccagctact caggaggctg aggcaggaga attgcttgag cctgggaggt ggaggttgca
     2401 gtgagccaag atcgctccat tgcactccag cctgggtgac agtgaaactc catctcaaaa
     2461 ataaaagaat aaaagtatgt ctgtcatcca gctcctatgt ctgttatcca gctccaagta
     2521 cagcttgtgt atatcaacat tttcaaaaac ctttaaacta ccaaatgaaa tccagatgtt
     2581 tttccatggt t
//
