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2020-10-24 05:58:57, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001257158            6270 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens centrosomal protein 41kDa (CEP41), transcript variant
            2, mRNA.
ACCESSION   NM_001257158
VERSION     NM_001257158.1  GI:380692318
KEYWORDS    RefSeq.
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 6270)
  AUTHORS   Lee,J.E., Silhavy,J.L., Zaki,M.S., Schroth,J., Bielas,S.L.,
            Marsh,S.E., Olvera,J., Brancati,F., Iannicelli,M., Ikegami,K.,
            Schlossman,A.M., Merriman,B., Attie-Bitach,T., Logan,C.V.,
            Glass,I.A., Cluckey,A., Louie,C.M., Lee,J.H., Raynes,H.R.,
            Rapin,I., Castroviejo,I.P., Setou,M., Barbot,C., Boltshauser,E.,
            Nelson,S.F., Hildebrandt,F., Johnson,C.A., Doherty,D.A.,
            Valente,E.M. and Gleeson,J.G.
  TITLE     CEP41 is mutated in Joubert syndrome and is required for tubulin
            glutamylation at the cilium
  JOURNAL   Nat. Genet. 44 (2), 193-199 (2012)
   PUBMED   22246503
  REMARK    GeneRIF: The data identified CEP41 mutations as a cause of Joubert
            syndrome and implicated tubulin post-translational modification in
            the pathogenesis of human ciliary dysfunction.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 6270)
  AUTHORS   Schneider,E., Mayer,S., El Hajj,N., Jensen,L.R., Kuss,A.W.,
            Zischler,H., Kondova,I., Bontrop,R.E., Navarro,B., Fuchs,E.,
            Zechner,U. and Haaf,T.
  TITLE     Methylation and expression analyses of the 7q autism susceptibility
            locus genes MEST, COPG2, and TSGA14 in human and anthropoid primate
            cortices
  JOURNAL   Cytogenet. Genome Res. 136 (4), 278-287 (2012)
   PUBMED   22456293
  REMARK    GeneRIF: In cortices, the MEST promoter was hemimethylated, as
            expected for a differentially methylated imprinting control region,
            whereas the COPG2 and TSGA14 promoters were completely
            demethylated, typical for transcriptionally active non-imprinted
            genes.
REFERENCE   3  (bases 1 to 6270)
  AUTHORS   Korvatska,O., Estes,A., Munson,J., Dawson,G., Bekris,L.M.,
            Kohen,R., Yu,C.E., Schellenberg,G.D. and Raskind,W.H.
  TITLE     Mutations in the TSGA14 gene in families with autism spectrum
            disorders
  JOURNAL   Am. J. Med. Genet. B Neuropsychiatr. Genet. 156B (3), 303-311
            (2011)
   PUBMED   21438139
  REMARK    GeneRIF: Three rare potentially pathogenic variants were identified
            in the TSGA14 gene, which encodes a centrosomal protein.
REFERENCE   4  (bases 1 to 6270)
  AUTHORS   Wang,A.G., Yoon,S.Y., Oh,J.H., Jeon,Y.J., Kim,M., Kim,J.M.,
            Byun,S.S., Yang,J.O., Kim,J.H., Kim,D.G., Yeom,Y.I., Yoo,H.S.,
            Kim,Y.S. and Kim,N.S.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem. Biophys. Res. Commun. 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   5  (bases 1 to 6270)
  AUTHORS   Andersen,J.S., Wilkinson,C.J., Mayor,T., Mortensen,P., Nigg,E.A.
            and Mann,M.
  TITLE     Proteomic characterization of the human centrosome by protein
            correlation profiling
  JOURNAL   Nature 426 (6966), 570-574 (2003)
   PUBMED   14654843
REFERENCE   6  (bases 1 to 6270)
  AUTHORS   Yamada,T., Kayashima,T., Yamasaki,K., Ohta,T., Yoshiura,Ki.,
            Matsumoto,N., Fujimoto,S., Niikawa,N. and Kishino,T.
  TITLE     The gene TSGA14, adjacent to the imprinted gene MEST, escapes
            genomic imprinting
  JOURNAL   Gene 288 (1-2), 57-63 (2002)
   PUBMED   12034494
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB155730.1, DB069500.1,
            BC018789.1 and AC007938.1.
            
            Summary: This gene encodes a centrosomal and microtubule-binding
            protein which is predicted to have two coiled-coil domains and a
            rhodanese domain. In human retinal pigment epithelial cells the
            protein localized to centrioles and cilia. Mutations in this gene
            have been associated with Joubert Syndrome 15; an autosomal
            recessive ciliopathy and neurological disorder. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Mar 2012].
            
            Transcript Variant: This variant (2) lacks an in-frame exon in the
            3' coding region, compared to variant 1, which results in a shorter
            isoform (2), compared to isoform 1.
            
            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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC018789.1, BM479225.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025088 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-239               CB155730.1         28-266
            240-240             DB069500.1         242-242
            241-2504            BC018789.1         23-2286
            2505-6270           AC007938.1         49189-52954         c
FEATURES             Location/Qualifiers
     source          1..6270
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q32"
     gene            1..6270
                     /gene="CEP41"
                     /gene_synonym="JBTS15; TSGA14"
                     /note="centrosomal protein 41kDa"
                     /db_xref="GeneID:95681"
                     /db_xref="HGNC:12370"
                     /db_xref="MIM:610523"
     exon            1..277
                     /gene="CEP41"
                     /gene_synonym="JBTS15; TSGA14"
                     /inference="alignment:Splign:1.39.8"
     variation       158
                     /gene="CEP41"
                     /gene_synonym="JBTS15; TSGA14"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:28403587"
     misc_feature    194..196
                     /gene="CEP41"
                     /gene_synonym="JBTS15; TSGA14"
                     /note="upstream in-frame stop codon"
     CDS             245..1150
                     /gene="CEP41"
                     /gene_synonym="JBTS15; TSGA14"
                     /note="isoform 2 is encoded by transcript variant 2;
                     centrosomal protein 41 kDa; centrosomal protein of 41 kDa;
                     testis specific protein A14; testis-specific gene A14
                     protein; testis specific, 14"
                     /codon_start=1
                     /product="centrosomal protein of 41 kDa isoform 2"
                     /protein_id="NP_001244087.1"
                     /db_xref="GI:380692319"
                     /db_xref="CCDS:CCDS59079.1"
                     /db_xref="GeneID:95681"
                     /db_xref="HGNC:12370"
                     /db_xref="MIM:610523"
                     /translation="
MSLRRHIGNPEYLMKRIPQNPRYQHIKSRLDTGNSMTKYTEKLEEIKKNYRYKKDELFKRLKVTTFAQLIIQVASLSDQTLEVTAEEIQRLEDNDSAASDPDAETTARTNGKGNPGEQSPSPEQFINNAGAGDSSRSTLQSVISGVGELDLDKGPVKKAEPHTKDKPYPDCPFLLLDVRDRDSYQQCHIVGAYSYPIATLSRTMNPYSNDILEYKNAHGKIIILYDDDERLASQAATTMCERGFENLFMLSGGRLNQANSSGRESKVPGARSAQNLPGGGPASHSNPRSLSSGHLQGKPWK
"
     misc_feature    752..1003
                     /gene="CEP41"
                     /gene_synonym="JBTS15; TSGA14"
                     /note="Rhodanese Homology Domain (RHOD); an alpha beta
                     fold domain found duplicated in the rhodanese protein. The
                     cysteine containing enzymatically active version of the
                     domain is also found in the Cdc25 class of protein
                     phosphatases and a variety of proteins...; Region: RHOD;
                     cd00158"
                     /db_xref="CDD:29073"
     misc_feature    920..922
                     /gene="CEP41"
                     /gene_synonym="JBTS15; TSGA14"
                     /note="active site residue [active]"
                     /db_xref="CDD:29073"
     exon            278..341
                     /gene="CEP41"
                     /gene_synonym="JBTS15; TSGA14"
                     /inference="alignment:Splign:1.39.8"
     variation       286
                     /gene="CEP41"
                     /gene_synonym="JBTS15; TSGA14"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:11556189"
     exon            342..389
                     /gene="CEP41"
                     /gene_synonym="JBTS15; TSGA14"
                     /inference="alignment:Splign:1.39.8"
     exon            390..451
                     /gene="CEP41"
                     /gene_synonym="JBTS15; TSGA14"
                     /inference="alignment:Splign:1.39.8"
     exon            452..521
                     /gene="CEP41"
                     /gene_synonym="JBTS15; TSGA14"
                     /inference="alignment:Splign:1.39.8"
     exon            522..666
                     /gene="CEP41"
                     /gene_synonym="JBTS15; TSGA14"
                     /inference="alignment:Splign:1.39.8"
     exon            667..818
                     /gene="CEP41"
                     /gene_synonym="JBTS15; TSGA14"
                     /inference="alignment:Splign:1.39.8"
     exon            819..886
                     /gene="CEP41"
                     /gene_synonym="JBTS15; TSGA14"
                     /inference="alignment:Splign:1.39.8"
     exon            887..1001
                     /gene="CEP41"
                     /gene_synonym="JBTS15; TSGA14"
                     /inference="alignment:Splign:1.39.8"
     exon            1002..6270
                     /gene="CEP41"
                     /gene_synonym="JBTS15; TSGA14"
                     /inference="alignment:Splign:1.39.8"
     STS             2297..2427
                     /gene="CEP41"
                     /gene_synonym="JBTS15; TSGA14"
                     /standard_name="D7S2396"
                     /db_xref="UniSTS:77851"
     STS             2320..2455
                     /gene="CEP41"
                     /gene_synonym="JBTS15; TSGA14"
                     /standard_name="D7S2107E"
                     /db_xref="UniSTS:12990"
     STS             2366..2491
                     /gene="CEP41"
                     /gene_synonym="JBTS15; TSGA14"
                     /standard_name="SHGC-30423"
                     /db_xref="UniSTS:61854"
     variation       2508
                     /gene="CEP41"
                     /gene_synonym="JBTS15; TSGA14"
                     /replace=""
                     /replace="a"
                     /db_xref="dbSNP:71178582"
     STS             2772..3529
                     /gene="CEP41"
                     /gene_synonym="JBTS15; TSGA14"
                     /standard_name="TSGA14__5148"
                     /db_xref="UniSTS:466534"
     STS             3220..3393
                     /gene="CEP41"
                     /gene_synonym="JBTS15; TSGA14"
                     /standard_name="RH92008"
                     /db_xref="UniSTS:84067"
     polyA_signal    3487..3492
                     /gene="CEP41"
                     /gene_synonym="JBTS15; TSGA14"
     polyA_site      3507
                     /gene="CEP41"
                     /gene_synonym="JBTS15; TSGA14"
     variation       4145..4146
                     /gene="CEP41"
                     /gene_synonym="JBTS15; TSGA14"
                     /replace=""
                     /replace="t"
                     /db_xref="dbSNP:71311101"
     STS             5071..5130
                     /gene="CEP41"
                     /gene_synonym="JBTS15; TSGA14"
                     /standard_name="D7S1958"
                     /db_xref="UniSTS:7728"
     STS             6114..6247
                     /gene="CEP41"
                     /gene_synonym="JBTS15; TSGA14"
                     /standard_name="WI-14634"
                     /db_xref="UniSTS:69783"
ORIGIN      
agagaacaaaaggcctcgctagccggcgtcccgcgttgcccttggcaaccattgagcggcgtcttgcccttctgcgaccctgagatgagagagtaaacggggcccccattggccggccggggaagacgggccaatcggagaagagggtatagggaggcggctgaacaaggttgtgggggtaggaagctagggttagaggcaacccgtgaggctagaaccccgaacgtggtcggttggagaaaatatgtccctccggaggcacattgggaaccctgagtatctgatgaaaaggataccacagaacccaagataccagcatatcaaatcaagactggacactggtaacagtatgactaaatatactgagaagctcgaagagattaagaaaaattatagatacaaaaaagatgagcttttcaagagactaaaagttacaacttttgcccagctgatcatccaagttgcttccctctctgatcaaacactggaagtgacagctgaggagattcaaaggctggaagacaatgattctgcagcttcagaccctgatgctgaaaccactgccaggaccaatgggaaaggaaatccaggtgagcagtcgccgagccctgagcagttcataaacaacgcaggagcaggggactccagccgctcaactcttcagagtgtcatcagtggtgttggggaactggatctagacaaagggccagtgaagaaagcagagccccataccaaagacaaaccttatcctgactgccccttcctgctgctagatgtgcgtgatagagattcttaccagcagtgccacattgttggagcttacagttacccaattgcaactctgtctagaacaatgaacccttattcaaatgatattcttgaatataaaaatgcccatggcaagatcatcattctgtatgacgatgatgaaaggctggccagtcaggcggccaccaccatgtgcgagcgtggatttgaaaacctcttcatgctttccggaggccgactgaaccaagctaactcctccggaagagagtccaaggtgcctggtgcccgaagcgctcagaatctgccaggtggcggccccgccagccactcaaacccccgctccctcagcagtggtcacctgcaaggcaaaccctggaagtaaagactttgtctcacttaggcaaataaatgttcttcctcttttcagaacccctgagcatttcccaagttgggtcatttccagaaacttctgcagaggaaagaccatgacatatgtatgggataggcctcttccctgtccctgtctccagttcctctcccctcaggaggccacctcaggaaggattttgacaggtgaccataaaaaccagaggtgtgacaggctctagtctcctccctgttgtttacagcatatttaagtcttgtgaaactgtataggaaaaaagtatctacgtttttagtttttttgttttgtttttttttaataaggtccagcttgttgggtctctctgtgttgttttgtaaatacttcagtcacatctgcccgtgtgcctgtccctgccaccttttcattcactgttcttgacttcatgaaggcttctccgggcagtcttggtgtgagaagctgtttccaagggtgcagatgagccttaggttccagccgcctgcagaccccaccccagcaggctcactcagcaaggagctctctgcccagcatattgcaggccctgttttgagtatggaagccagtgcctgtgtactcactgaaattgaagatgaggaaagtagctgtacactcactgaatgctcccccttactagatatttcctggagccagaaaggtatgcatgtgggtgtcttcacaccggggaggagggcctctcatgggaaagccctggccaccacaccggcctgtgccccttgaagcccaccaaagcggccctcacttgtggtcagtatatcagttatgacgcccattgcccagcttcagtccatccatgttagatggacagaaattatggccagttgaaaataccagctttggttggacaactgtggacacacaaggtgaagaggactccgaagtcctttgtcagggctgacaacctcgtaagcccttgcttagaaatacagtattagtctaattgagtaattagtgcaatttcctgcttacttttcattctcatgactgaactgtgattaggaagttgtgattatagattctggttttggccggaattttgaatcagcattaattgaattgctaaatgactgacattcattccatttaattgggggaacaaaaggcctcaggtaaggatgaggaactctgaaatcagatggaaaagagcggtgttaatttttatggtctgtgatcgtagctgtgataagggactgaggaataaattgtgctctttgtcatggcaaccagcttctgaaaagcccactgaaaattgcctgtcctgctggtaactgctacggggtaagatttgccttaacagtactattttctcgccaccaaaaaaaaaaaaaaaaaaaaaaaaaaatgcaccacagtatttctagcatgggggctgtgtttgtatgagaaataaacgtaataaatatctcatagagacatatggaaaaataactttcagattcagcccagttctgttttagagtgtgtttattcttctctacttgatttccaaagtgcaacattttccgatgctttagaaatcaaacaaaccagggacattgttcagatgtcaagccatgcccaattttccacaagattcaagaatcttgtataaaattcagccaacgtacacatagctttaatgaggagcctgtcatgtttccccataaatttattgcctgagaacttagttcagcctttgctaatgccaaaatgctctggctttgtattttctttacagcatagatagaaaaatgcacatttttccacactcagctttcccctagcatggacaagattttcagccatttttgccacatatacatttttaaggaaaaaagatttttctctgtaagaaagttctggttatgctgttttaaaggtgacttgtcaggagttgagacttccctgccggattctattttgaaagtaaatggtcttccctccttgttccgattctgcgttcccatcgtcagacaactttggagtattagaaaccactgtatatatgtggaaagccaggtcagccagacctgttagaattggtgtgcactcacctgagagatctggcaggttggatatatttatgtgtatttctccacagtgcttgctttgccctgttggtaaggattttaaataaccatgctcaaaagagctgttctaatctgcgttttgcatgttaagtgttaatatcaaacattctttacgtgctcgaggtattgcttttaacattctactttgccagtttcttcattagattaattgacatgtattatttaaatgaccagtgatgctttgtgcaattatgaatgttgaagattaaagtacatagttactaatttgtcgtttgctattaatatgctgaaaactgccaacttctctcttcttttctgtcgagatgatttgggggagccacaggagactggtgtgatttttgctgcatctcctaggaaagcattttttaaaaaaaataaatgaatcaggaaatcagtccaattagggcagggggcctcagctctccagtcagaaagcctggatttcttttcctgctcaggctgggactgaagccaccttcaacaactggatcatggcttcctaccagcgtctcaggggttgactagctgcccttgtctggggcttgtgaaccctgagacagaaggtgcttcatcgatgtacaactacagcaccctgaacagcagtgatggccaaagtttaaataataccttaaatgctttaaaggggtttgtgtttaaggaagggagaaaagaaaaaaagaaaggaagggagaaagaagcaaggaaatgggaagaagggagggcagagagaagaaaagaagcagaaagcgagagagaaaggagaaagctacattacttatttgaaaacaaaaggaacaccctgggctgtaataatgtcaggctcaatctcttgaaaaagtatggaatgatttaaatggcctgcattcattttatcttttatctttttttttttttttaacctttagtggttagccaggaccagcacgatcatattgggcttggtataaatccgaatgaaaagagaccaaataacattcattagttgctcagggatttttcctgtggtgctatttaaattatacaaaaattcttaagactttaggctactcgaccaagaaaacagaacaaaacaaaaaatcgtgttttctctaattcccttgtggaatgtaagtgaaatcagagtcctaggctaggaagaaatacgtaggtaatttttcttgtgttggttttggtttctgtcatgttgtttattggctatagattctgtcttttatgttatctgacttttttagagcgaataattagtttctgtccacctggatttaaatccatgaccaccttcttgctctactctgaagataatcagtaagaacctttctttctccagttctaaaacgttctcagtgtctttaatgtgtgtttattttcttcccaattctttcaaagatttaactcccacgatacttttttttccccaggaaacaccgcaaatgtgtggaatataattcaccagtttaattatgtgagcatgttgagtacttacatgcaggtccattaatttttcactaacaattattttttcatgcaaaagcaataaataacattgtgcttccaaaatgttcagaatacatttgggtagtaatactttcctagatttacaataattattgaaattattattatgacatctttaaatggatacacaggtcagttacaacataaaaaatgtaatggtggaaatttgtcagccttgaattcaggcagaacaggattcggtgcatgattttatgtgttttcgaaacggtgtctgtcacattgtgatcccctgatggctcccctctctgttgctgatcctctttgttctgtacagaagcaaattctcacctgtgtaacatcctgaagcacctggtaaaatgtgaggcaaagagaggccacttctcaaatgctgtggacggatgggctgcatcttttaaaggatatcaatatgtcttcctgttgcaattattttgactataagctcccagagagtgaaaatcaccaaccctgtgacagtggcccttaataagtgttcatgaataaatgaattgaacctgtcaagattgaagtttggatgtgatgcccactgtggtggccactcagtgctagtctgtcattctggagacccagaaagctcgttatcttctgtcccccttgtgtatcctgcctttgtgggcgaggcattcaaaaccctgaggtttttagatctccctctacaggaagtacccagagagctgctgggggtgttattaccctgtctctgccaggcttaaagtatcctcccaaattcagcacgcaaaggtcacacaccacccccatcttaagagtaggttttctcttttgtttcaaatcttgaagatttccagaaaataataatactagccaatgtttgtggagagcttactttgctcctagattcttcattatatgttttgacccatttaatttccacaacagtctgatgaggcaggcacccccattttcagatgaggagactgaggttcgggtagaaattaagtgactcaggtttgccttcagtctctgaccaagggtttgaaaagccaggagccagcctgagaactgtggctccagagggtgttctttcagccactccgctctatgcttctcactctgggtgggcacaaccatgttctcctttggtgatgcctctaacttaccgtgaaaatgtacctttcccttcgctattggcttcccttccctcctagtcagccgagattcttttgaaaactttcctccgcttgcctgcacaaaaggcgatggaaattcaggaactgaaacatctgctctggggaatgcgtatttccacatttccaccgcctgtgtctgctgtcttatcttgaagacaggtgctccagggcttccgaggttattttgtctgttaatggacaccttgcaaagtaccacttaaggaatgagaattacaaacttttaattatattgtagggggaaaaaagtaggctgttttcctgataggtctagccattcattcagtaaaccatattgatatga
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:95681 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
            GeneID:95681 -> Biological process: GO:0000086 [G2/M transition of mitotic cell cycle] evidence: TAS
            GeneID:95681 -> Biological process: GO:0000278 [mitotic cell cycle] evidence: TAS
            GeneID:95681 -> Biological process: GO:0015031 [protein transport] evidence: IEA
            GeneID:95681 -> Biological process: GO:0018095 [protein polyglutamylation] evidence: ISS
            GeneID:95681 -> Biological process: GO:0042384 [cilium assembly] evidence: IMP
            GeneID:95681 -> Cellular component: GO:0005813 [centrosome] evidence: IDA
            GeneID:95681 -> Cellular component: GO:0005814 [centriole] evidence: IDA
            GeneID:95681 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
            GeneID:95681 -> Cellular component: GO:0036064 [cilium basal body] evidence: IDA
            GeneID:95681 -> Cellular component: GO:0072372 [primary cilium] evidence: IDA

by @meso_cacase at DBCLS
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