Home |
Help |
Advanced search
2024-04-26 14:39:14, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_018718 6486 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens centrosomal protein 41kDa (CEP41), transcript variant
1, mRNA.
ACCESSION NM_018718
VERSION NM_018718.2 GI:380692317
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 6486)
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 6486)
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 6486)
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 6486)
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 6486)
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 6486)
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, AF429308.1 and
AC007938.1.
This sequence is a reference standard in the RefSeqGene project.
On Mar 17, 2012 this sequence version replaced gi:16306478.
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 (1) represents the longest
transcript and encodes the longest isoform (1; also known as long
(L) type).
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 :: AF429308.1, AJ278890.1 [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
1-154 CB155730.1 28-181
155-3723 AF429308.1 1-3569
3724-6486 AC007938.1 49189-51951 c
FEATURES Location/Qualifiers
source 1..6486
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="7"
/map="7q32"
gene 1..6486
/gene="CEP41"
/gene_synonym="JBTS15; TSGA14"
/note="centrosomal protein 41kDa"
/db_xref="GeneID:95681"
/db_xref="HGNC:12370"
/db_xref="HPRD:15574"
/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..1366
/gene="CEP41"
/gene_synonym="JBTS15; TSGA14"
/note="isoform 1 is encoded by transcript variant 1;
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 1"
/protein_id="NP_061188.1"
/db_xref="GI:16306479"
/db_xref="CCDS:CCDS5821.1"
/db_xref="GeneID:95681"
/db_xref="HGNC:12370"
/db_xref="HPRD:15574"
/db_xref="MIM:610523"
/translation="
MSLRRHIGNPEYLMKRIPQNPRYQHIKSRLDTGNSMTKYTEKLEEIKKNYRYKKDELFKRLKVTTFAQLIIQVASLSDQTLEVTAEEIQRLEDNDSAASDPDAETTARTNGKGNPGEQSPSPEQFINNAGAGDSSRSTLQSVISGVGELDLDKGPVKKAEPHTKDKPYPDCPFLLLDVRDRDSYQQCHIVGAYSYPIATLSRTMNPYSNDILEYKNAHGKIIILYDDDERLASQAATTMCERGFENLFMLSGGLKVLAQKFPEGLITGSLPASCQQALPPGSARKRSSPKGPPLPAENKWRFTPEDLKKIEYYLEEEQGPADHPSRLNQANSSGRESKVPGARSAQNLPGGGPASHSNPRSLSSGHLQGKPWK
"
misc_feature 752..1009
/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..1217
/gene="CEP41"
/gene_synonym="JBTS15; TSGA14"
/inference="alignment:Splign:1.39.8"
exon 1218..6486
/gene="CEP41"
/gene_synonym="JBTS15; TSGA14"
/inference="alignment:Splign:1.39.8"
STS 2513..2643
/gene="CEP41"
/gene_synonym="JBTS15; TSGA14"
/standard_name="D7S2396"
/db_xref="UniSTS:77851"
STS 2536..2671
/gene="CEP41"
/gene_synonym="JBTS15; TSGA14"
/standard_name="D7S2107E"
/db_xref="UniSTS:12990"
STS 2582..2707
/gene="CEP41"
/gene_synonym="JBTS15; TSGA14"
/standard_name="SHGC-30423"
/db_xref="UniSTS:61854"
variation 2724
/gene="CEP41"
/gene_synonym="JBTS15; TSGA14"
/replace=""
/replace="a"
/db_xref="dbSNP:71178582"
STS 2988..3745
/gene="CEP41"
/gene_synonym="JBTS15; TSGA14"
/standard_name="TSGA14__5148"
/db_xref="UniSTS:466534"
STS 3436..3609
/gene="CEP41"
/gene_synonym="JBTS15; TSGA14"
/standard_name="RH92008"
/db_xref="UniSTS:84067"
polyA_signal 3703..3708
/gene="CEP41"
/gene_synonym="JBTS15; TSGA14"
polyA_site 3723
/gene="CEP41"
/gene_synonym="JBTS15; TSGA14"
variation 4361..4362
/gene="CEP41"
/gene_synonym="JBTS15; TSGA14"
/replace=""
/replace="t"
/db_xref="dbSNP:71311101"
STS 5287..5346
/gene="CEP41"
/gene_synonym="JBTS15; TSGA14"
/standard_name="D7S1958"
/db_xref="UniSTS:7728"
STS 6330..6463
/gene="CEP41"
/gene_synonym="JBTS15; TSGA14"
/standard_name="WI-14634"
/db_xref="UniSTS:69783"
ORIGIN
agagaacaaaaggcctcgctagccggcgtcccgcgttgcccttggcaaccattgagcggcgtcttgcccttctgcgaccctgagatgagagagtaaacggggcccccattggccggccggggaagacgggccaatcggagaagagggtatagggaggcggctgaacaaggttgtgggggtaggaagctagggttagaggcaacccgtgaggctagaaccccgaacgtggtcggttggagaaaatatgtccctccggaggcacattgggaaccctgagtatctgatgaaaaggataccacagaacccaagataccagcatatcaaatcaagactggacactggtaacagtatgactaaatatactgagaagctcgaagagattaagaaaaattatagatacaaaaaagatgagcttttcaagagactaaaagttacaacttttgcccagctgatcatccaagttgcttccctctctgatcaaacactggaagtgacagctgaggagattcaaaggctggaagacaatgattctgcagcttcagaccctgatgctgaaaccactgccaggaccaatgggaaaggaaatccaggtgagcagtcgccgagccctgagcagttcataaacaacgcaggagcaggggactccagccgctcaactcttcagagtgtcatcagtggtgttggggaactggatctagacaaagggccagtgaagaaagcagagccccataccaaagacaaaccttatcctgactgccccttcctgctgctagatgtgcgtgatagagattcttaccagcagtgccacattgttggagcttacagttacccaattgcaactctgtctagaacaatgaacccttattcaaatgatattcttgaatataaaaatgcccatggcaagatcatcattctgtatgacgatgatgaaaggctggccagtcaggcggccaccaccatgtgcgagcgtggatttgaaaacctcttcatgctttccggaggtctaaaagtcttagctcagaaattcccggaaggactgattactggttccctgccagcatcttgccagcaggcccttcctcctgggtctgcccggaaacgatccagccccaaagggccacccctaccagctgagaataaatggagatttaccccagaagacttaaaaaagatagaatattatctggaagaggagcaagggcctgcagatcatcctagccgactgaaccaagctaactcctccggaagagagtccaaggtgcctggtgcccgaagcgctcagaatctgccaggtggcggccccgccagccactcaaacccccgctccctcagcagtggtcacctgcaaggcaaaccctggaagtaaagactttgtctcacttaggcaaataaatgttcttcctcttttcagaacccctgagcatttcccaagttgggtcatttccagaaacttctgcagaggaaagaccatgacatatgtatgggataggcctcttccctgtccctgtctccagttcctctcccctcaggaggccacctcaggaaggattttgacaggtgaccataaaaaccagaggtgtgacaggctctagtctcctccctgttgtttacagcatatttaagtcttgtgaaactgtataggaaaaaagtatctacgtttttagtttttttgttttgtttttttttaataaggtccagcttgttgggtctctctgtgttgttttgtaaatacttcagtcacatctgcccgtgtgcctgtccctgccaccttttcattcactgttcttgacttcatgaaggcttctccgggcagtcttggtgtgagaagctgtttccaagggtgcagatgagccttaggttccagccgcctgcagaccccaccccagcaggctcactcagcaaggagctctctgcccagcatattgcaggccctgttttgagtatggaagccagtgcctgtgtactcactgaaattgaagatgaggaaagtagctgtacactcactgaatgctcccccttactagatatttcctggagccagaaaggtatgcatgtgggtgtcttcacaccggggaggagggcctctcatgggaaagccctggccaccacaccggcctgtgccccttgaagcccaccaaagcggccctcacttgtggtcagtatatcagttatgacgcccattgcccagcttcagtccatccatgttagatggacagaaattatggccagttgaaaataccagctttggttggacaactgtggacacacaaggtgaagaggactccgaagtcctttgtcagggctgacaacctcgtaagcccttgcttagaaatacagtattagtctaattgagtaattagtgcaatttcctgcttacttttcattctcatgactgaactgtgattaggaagttgtgattatagattctggttttggccggaattttgaatcagcattaattgaattgctaaatgactgacattcattccatttaattgggggaacaaaaggcctcaggtaaggatgaggaactctgaaatcagatggaaaagagcggtgttaatttttatggtctgtgatcgtagctgtgataagggactgaggaataaattgtgctctttgtcatggcaaccagcttctgaaaagcccactgaaaattgcctgtcctgctggtaactgctacggggtaagatttgccttaacagtactattttctcgccaccaaaaaaaaaaaaaaaaaaaaaaaaaaatgcaccacagtatttctagcatgggggctgtgtttgtatgagaaataaacgtaataaatatctcatagagacatatggaaaaataactttcagattcagcccagttctgttttagagtgtgtttattcttctctacttgatttccaaagtgcaacattttccgatgctttagaaatcaaacaaaccagggacattgttcagatgtcaagccatgcccaattttccacaagattcaagaatcttgtataaaattcagccaacgtacacatagctttaatgaggagcctgtcatgtttccccataaatttattgcctgagaacttagttcagcctttgctaatgccaaaatgctctggctttgtattttctttacagcatagatagaaaaatgcacatttttccacactcagctttcccctagcatggacaagattttcagccatttttgccacatatacatttttaaggaaaaaagatttttctctgtaagaaagttctggttatgctgttttaaaggtgacttgtcaggagttgagacttccctgccggattctattttgaaagtaaatggtcttccctccttgttccgattctgcgttcccatcgtcagacaactttggagtattagaaaccactgtatatatgtggaaagccaggtcagccagacctgttagaattggtgtgcactcacctgagagatctggcaggttggatatatttatgtgtatttctccacagtgcttgctttgccctgttggtaaggattttaaataaccatgctcaaaagagctgttctaatctgcgttttgcatgttaagtgttaatatcaaacattctttacgtgctcgaggtattgcttttaacattctactttgccagtttcttcattagattaattgacatgtattatttaaatgaccagtgatgctttgtgcaattatgaatgttgaagattaaagtacatagttactaatttgtcgtttgctattaatatgctgaaaactgccaacttctctcttcttttctgtcgagatgatttgggggagccacaggagactggtgtgatttttgctgcatctcctaggaaagcattttttaaaaaaaataaatgaatcaggaaatcagtccaattagggcagggggcctcagctctccagtcagaaagcctggatttcttttcctgctcaggctgggactgaagccaccttcaacaactggatcatggcttcctaccagcgtctcaggggttgactagctgcccttgtctggggcttgtgaaccctgagacagaaggtgcttcatcgatgtacaactacagcaccctgaacagcagtgatggccaaagtttaaataataccttaaatgctttaaaggggtttgtgtttaaggaagggagaaaagaaaaaaagaaaggaagggagaaagaagcaaggaaatgggaagaagggagggcagagagaagaaaagaagcagaaagcgagagagaaaggagaaagctacattacttatttgaaaacaaaaggaacaccctgggctgtaataatgtcaggctcaatctcttgaaaaagtatggaatgatttaaatggcctgcattcattttatcttttatctttttttttttttttaacctttagtggttagccaggaccagcacgatcatattgggcttggtataaatccgaatgaaaagagaccaaataacattcattagttgctcagggatttttcctgtggtgctatttaaattatacaaaaattcttaagactttaggctactcgaccaagaaaacagaacaaaacaaaaaatcgtgttttctctaattcccttgtggaatgtaagtgaaatcagagtcctaggctaggaagaaatacgtaggtaatttttcttgtgttggttttggtttctgtcatgttgtttattggctatagattctgtcttttatgttatctgacttttttagagcgaataattagtttctgtccacctggatttaaatccatgaccaccttcttgctctactctgaagataatcagtaagaacctttctttctccagttctaaaacgttctcagtgtctttaatgtgtgtttattttcttcccaattctttcaaagatttaactcccacgatacttttttttccccaggaaacaccgcaaatgtgtggaatataattcaccagtttaattatgtgagcatgttgagtacttacatgcaggtccattaatttttcactaacaattattttttcatgcaaaagcaataaataacattgtgcttccaaaatgttcagaatacatttgggtagtaatactttcctagatttacaataattattgaaattattattatgacatctttaaatggatacacaggtcagttacaacataaaaaatgtaatggtggaaatttgtcagccttgaattcaggcagaacaggattcggtgcatgattttatgtgttttcgaaacggtgtctgtcacattgtgatcccctgatggctcccctctctgttgctgatcctctttgttctgtacagaagcaaattctcacctgtgtaacatcctgaagcacctggtaaaatgtgaggcaaagagaggccacttctcaaatgctgtggacggatgggctgcatcttttaaaggatatcaatatgtcttcctgttgcaattattttgactataagctcccagagagtgaaaatcaccaaccctgtgacagtggcccttaataagtgttcatgaataaatgaattgaacctgtcaagattgaagtttggatgtgatgcccactgtggtggccactcagtgctagtctgtcattctggagacccagaaagctcgttatcttctgtcccccttgtgtatcctgcctttgtgggcgaggcattcaaaaccctgaggtttttagatctccctctacaggaagtacccagagagctgctgggggtgttattaccctgtctctgccaggcttaaagtatcctcccaaattcagcacgcaaaggtcacacaccacccccatcttaagagtaggttttctcttttgtttcaaatcttgaagatttccagaaaataataatactagccaatgtttgtggagagcttactttgctcctagattcttcattatatgttttgacccatttaatttccacaacagtctgatgaggcaggcacccccattttcagatgaggagactgaggttcgggtagaaattaagtgactcaggtttgccttcagtctctgaccaagggtttgaaaagccaggagccagcctgagaactgtggctccagagggtgttctttcagccactccgctctatgcttctcactctgggtgggcacaaccatgttctcctttggtgatgcctctaacttaccgtgaaaatgtacctttcccttcgctattggcttcccttccctcctagtcagccgagattcttttgaaaactttcctccgcttgcctgcacaaaaggcgatggaaattcaggaactgaaacatctgctctggggaatgcgtatttccacatttccaccgcctgtgtctgctgtcttatcttgaagacaggtgctccagggcttccgaggttattttgtctgttaatggacaccttgcaaagtaccacttaaggaatgagaattacaaacttttaattatattgtagggggaaaaaagtaggctgttttcctgataggtctagccattcattcagtaaaccatattgatatga
//
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
This page is licensed under a Creative Commons Attribution 2.1 Japan License.