2025-05-09 16:52:09, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_016350 4388 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 6, mRNA. ACCESSION NM_016350 VERSION NM_016350.4 GI:291167746 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 4388) AUTHORS Howng,S.L., Chou,A.K., Lin,C.C., Lin,Z.A., Wang,C.J., Loh,J.K., Lieu,A.S., Yen,J.H., Lee,C.I. and Hong,Y.R. TITLE Autoimmunity against hNinein, a human centrosomal protein, in patients with rheumatoid arthritis and systemic lupus erythematosus JOURNAL Mol Med Rep 4 (5), 825-830 (2011) PUBMED 21667027 REMARK GeneRIF: The prevalence of hNinein autoreactivity and its specificity in 22 rheumatoid arthritis and 32 systemic lupus erythematosus autoimmune disease sera. REFERENCE 2 (bases 1 to 4388) AUTHORS Ibi,M., Zou,P., Inoko,A., Shiromizu,T., Matsuyama,M., Hayashi,Y., Enomoto,M., Mori,D., Hirotsune,S., Kiyono,T., Tsukita,S., Goto,H. and Inagaki,M. TITLE Trichoplein controls microtubule anchoring at the centrosome by binding to Odf2 and ninein JOURNAL J. Cell. Sci. 124 (PT 6), 857-864 (2011) PUBMED 21325031 REMARK GeneRIF: Trichoplein controls microtubule anchoring at the centrosome by binding to Odf2 and ninein. REFERENCE 3 (bases 1 to 4388) AUTHORS Olson,J.E., Wang,X., Pankratz,V.S., Fredericksen,Z.S., Vachon,C.M., Vierkant,R.A., Cerhan,J.R. and Couch,F.J. TITLE Centrosome-related genes, genetic variation, and risk of breast cancer JOURNAL Breast Cancer Res. Treat. 125 (1), 221-228 (2011) PUBMED 20508983 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 4 (bases 1 to 4388) AUTHORS Cirulli,E.T., Kasperaviciute,D., Attix,D.K., Need,A.C., Ge,D., Gibson,G. and Goldstein,D.B. TITLE Common genetic variation and performance on standardized cognitive tests JOURNAL Eur. J. Hum. Genet. 18 (7), 815-820 (2010) PUBMED 20125193 REMARK Erratum:[Eur J Hum Genet. 2010 Jul;18(7):820] REFERENCE 5 (bases 1 to 4388) AUTHORS Couch,F.J., Wang,X., Bamlet,W.R., de Andrade,M., Petersen,G.M. and McWilliams,R.R. TITLE Association of mitotic regulation pathway polymorphisms with pancreatic cancer risk and outcome JOURNAL Cancer Epidemiol. Biomarkers Prev. 19 (1), 251-257 (2010) PUBMED 20056645 REMARK GeneRIF: Two single nucleotide polymorphisms in the APC and NIN loci were significantly associated with pancreatic cancer risk GeneRIF: Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) REFERENCE 6 (bases 1 to 4388) AUTHORS Dammermann,A. and Merdes,A. TITLE Assembly of centrosomal proteins and microtubule organization depends on PCM-1 JOURNAL J. Cell Biol. 159 (2), 255-266 (2002) PUBMED 12403812 REFERENCE 7 (bases 1 to 4388) AUTHORS Ou,Y.Y., Mack,G.J., Zhang,M. and Rattner,J.B. TITLE CEP110 and ninein are located in a specific domain of the centrosome associated with centrosome maturation JOURNAL J. Cell. Sci. 115 (PT 9), 1825-1835 (2002) PUBMED 11956314 REMARK GeneRIF: Ninein is essential for the reformation of specific aspects of the interphase centrosome architecture following mitosis as well as being required for the centrosome to function as a MTOC. REFERENCE 8 (bases 1 to 4388) AUTHORS Hong,Y.R., Chen,C.H., Chuo,M.H., Liou,S.Y. and Howng,S.L. TITLE Genomic organization and molecular characterization of the human ninein gene JOURNAL Biochem. Biophys. Res. Commun. 279 (3), 989-995 (2000) PUBMED 11162463 REFERENCE 9 (bases 1 to 4388) AUTHORS Hong,Y.R., Chen,C.H., Chang,J.H., Wang,S., Sy,W.D., Chou,C.K. and Howng,S.L. TITLE Cloning and characterization of a novel human ninein protein that interacts with the glycogen synthase kinase 3beta JOURNAL Biochim. Biophys. Acta 1492 (2-3), 513-516 (2000) PUBMED 11004522 REFERENCE 10 (bases 1 to 4388) AUTHORS Mack,G.J., Rees,J., Sandblom,O., Balczon,R., Fritzler,M.J. and Rattner,J.B. TITLE Autoantibodies to a group of centrosomal proteins in human autoimmune sera reactive with the centrosome JOURNAL Arthritis Rheum. 41 (3), 551-558 (1998) PUBMED 9506584 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AF302773.2 and BC090932.1. On Mar 17, 2010 this sequence version replaced gi:33946312. Summary: This gene encodes one of the proteins important for centrosomal function. This protein is important for positioning and anchoring the microtubules minus-ends in epithelial cells. Localization of this protein to the centrosome requires three leucine zippers in the central coiled-coil domain. Multiple alternatively spliced transcript variants that encode different isoforms have been reported. [provided by RefSeq, Jul 2008]. Transcript Variant: This variant (6) lacks an alternate in-frame exon in the central coding region and uses a distinct 3' coding region and 3' UTR, compared to variant 2. The resulting isoform (6) lacks an internal segment and has a shorter and distinct C-terminus, compared to isoform 2. 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## CDS exon combination :: BC090932.1 [ECO:0000331] RNAseq introns :: mixed/partial sample support ERS025081, ERS025082 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-156 AF302773.2 1-156 157-3025 BC090932.1 1-2869 3026-3026 AF302773.2 5165-5165 3027-3688 BC090932.1 2871-3532 3689-3689 AF302773.2 5828-5828 3690-4388 BC090932.1 3534-4232 FEATURES Location/Qualifiers source 1..4388 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="14" /map="14q22.1" gene 1..4388 /gene="NIN" /gene_synonym="SCKL7" /note="ninein (GSK3B interacting protein)" /db_xref="GeneID:51199" /db_xref="HGNC:14906" /db_xref="MIM:608684" exon 1..116 /gene="NIN" /gene_synonym="SCKL7" /inference="alignment:Splign:1.39.8" exon 117..170 /gene="NIN" /gene_synonym="SCKL7" /inference="alignment:Splign:1.39.8" exon 171..374 /gene="NIN" /gene_synonym="SCKL7" /inference="alignment:Splign:1.39.8" CDS 192..4325 /gene="NIN" /gene_synonym="SCKL7" /note="isoform 6 is encoded by transcript variant 6; ninein centrosomal protein; glycogen synthase kinase 3 beta-interacting protein; hNinein" /codon_start=1 /product="ninein isoform 6" /protein_id="NP_057434.4" /db_xref="GI:291167747" /db_xref="CCDS:CCDS32078.2" /db_xref="GeneID:51199" /db_xref="HGNC:14906" /db_xref="MIM:608684" /translation="
MDEVEQDQHEARLKELFDSFDTTGTGSLGQEELTDLCHMLSLEEVAPVLQQTLLQDNLLGRVHFDQFKEALILILSRTLSNEEHFQEPDCSLEAQPKYVRGGKRYGRRSLPEFQESVEEFPEVTVIEPLDEEARPSHIPAGDCSEHWKTQRSEEYEAEGQLRFWNPDDLNASQSGSSPPQDWIEEKLQEVCEDLGITRDGHLNRKKLVSICEQYGLQNVDGEMLEEVFHNLDPDGTMSVEDFFYGLFKNGKSLTPSASTPYRQLKRHLSMQSFDESGRRTTTSSAMTSTIGFRVFSCLDDGMGHASVERILDTWQEEGIENSQEILKALDFSLDGNINLTELTLALENELLVTKNSIHQAALASFKAEIRHLLERVDQVVREKEKLRSDLDKAEKLKSLMASEVDDHHAAIERRNEYNLRKLDEEYKERIAALKNELRKEREQILQQAGKQRLELEQEIEKAKTEENYIRDRLALSLKENSRLENELLENAEKLAEYENLTNKLQRNLENVLAEKFGDLDPSSAEFFLQEERLTQMRNEYERQCRVLQDQVDELQSELEEYRAQGRVLRLPLKNSPSEEVEANSGGIEPEHGLGSEECNPLNMSIEAELVIEQMKEQHHRDICCLRLELEDKVRHYEKQLDETVVSCKKAQENMKQRHENETHTLEKQISDLKNEIAELQGQAAVLKEAHHEATCRHEEEKKQLQVKLEEEKTHLQEKLRLQHEMELKARLTQAQASFEREREGLQSSAWTEEKVRGLTQELEQFHQEQLTSLVEKHTLEKEELRKELLEKHQRELQEGRYESEKLQQENSILRNEITTLNEEDSISNLKLGTLNGSQEEMWQKTETVKQENAAVQKMVENLKKQISELKIKNQQLDLENTELSQKNSQNQEKLQELNQRLTEMLCQKEKEPGNSALEEREQEKFNLKEELERCKVQSSTLVSSLEAELSEVKIQTHIVQQENHLLKDELEKMKQLHRCPDLSDFQQKISSVLSYNEKLLKEKEALSEELNSCVDKLAKSSLLEHRIATMKQEQKSWEHQSASLKSQLVASQEKVQNLEDTVQNVNLQMSRMKSDLRVTQQEKEALKQEVMSLHKQLQNAGGKSWAPEIATHPSGLHNQQKRLSWDKLDHLMNEEQQLLWQENERLQTMVQNTKAELTHSREKVRQLESNLLPKHQKHLNPSGTMNPTEQEKLSLKRECDQFQKEQSPANRKVSQMNSLEQELETIHLENEGLKKKQVKLDEQLMEMQHLRSTATPSPSPHAWDLQLLQQQACPMVPREQFLQLQRQLLQAERINQHLQEELENRTSETNTPQGNQEQLVTVMEERMIEVEQKLKLVKRLLQEKVNQLKEQVSLPGHLCSPTSHSSFNSSFTSLYCH
" misc_feature <1266..2228 /gene="NIN" /gene_synonym="SCKL7" /note="chromosome segregation protein SMC, common bacterial type; Region: SMC_prok_B; TIGR02168" /db_xref="CDD:162739" misc_feature 2658..>3521 /gene="NIN" /gene_synonym="SCKL7" /note="Chromosome segregation ATPases [Cell division and chromosome partitioning]; Region: Smc; COG1196" /db_xref="CDD:31389" exon 375..456 /gene="NIN" /gene_synonym="SCKL7" /inference="alignment:Splign:1.39.8" exon 457..626 /gene="NIN" /gene_synonym="SCKL7" /inference="alignment:Splign:1.39.8" exon 627..666 /gene="NIN" /gene_synonym="SCKL7" /inference="alignment:Splign:1.39.8" exon 667..857 /gene="NIN" /gene_synonym="SCKL7" /inference="alignment:Splign:1.39.8" exon 858..1004 /gene="NIN" /gene_synonym="SCKL7" /inference="alignment:Splign:1.39.8" exon 1005..1172 /gene="NIN" /gene_synonym="SCKL7" /inference="alignment:Splign:1.39.8" exon 1173..1309 /gene="NIN" /gene_synonym="SCKL7" /inference="alignment:Splign:1.39.8" exon 1310..1450 /gene="NIN" /gene_synonym="SCKL7" /inference="alignment:Splign:1.39.8" exon 1451..1625 /gene="NIN" /gene_synonym="SCKL7" /inference="alignment:Splign:1.39.8" exon 1626..1736 /gene="NIN" /gene_synonym="SCKL7" /inference="alignment:Splign:1.39.8" exon 1737..1826 /gene="NIN" /gene_synonym="SCKL7" /inference="alignment:Splign:1.39.8" exon 1827..1965 /gene="NIN" /gene_synonym="SCKL7" /inference="alignment:Splign:1.39.8" exon 1966..2087 /gene="NIN" /gene_synonym="SCKL7" /inference="alignment:Splign:1.39.8" exon 2088..2590 /gene="NIN" /gene_synonym="SCKL7" /inference="alignment:Splign:1.39.8" exon 2591..2716 /gene="NIN" /gene_synonym="SCKL7" /inference="alignment:Splign:1.39.8" exon 2717..2786 /gene="NIN" /gene_synonym="SCKL7" /inference="alignment:Splign:1.39.8" exon 2787..3002 /gene="NIN" /gene_synonym="SCKL7" /inference="alignment:Splign:1.39.8" exon 3003..3116 /gene="NIN" /gene_synonym="SCKL7" /inference="alignment:Splign:1.39.8" exon 3117..3239 /gene="NIN" /gene_synonym="SCKL7" /inference="alignment:Splign:1.39.8" exon 3240..3353 /gene="NIN" /gene_synonym="SCKL7" /inference="alignment:Splign:1.39.8" exon 3354..3500 /gene="NIN" /gene_synonym="SCKL7" /inference="alignment:Splign:1.39.8" exon 3501..3680 /gene="NIN" /gene_synonym="SCKL7" /inference="alignment:Splign:1.39.8" exon 3681..3827 /gene="NIN" /gene_synonym="SCKL7" /inference="alignment:Splign:1.39.8" variation 3689 /gene="NIN" /gene_synonym="SCKL7" /replace="a" /replace="g" /db_xref="dbSNP:11376" exon 3828..3929 /gene="NIN" /gene_synonym="SCKL7" /inference="alignment:Splign:1.39.8" variation 3896 /gene="NIN" /gene_synonym="SCKL7" /replace="a" /replace="g" /db_xref="dbSNP:1055883" exon 3930..4130 /gene="NIN" /gene_synonym="SCKL7" /inference="alignment:Splign:1.39.8" exon 4131..4369 /gene="NIN" /gene_synonym="SCKL7" /inference="alignment:Splign:1.39.8" STS 4152..4272 /gene="NIN" /gene_synonym="SCKL7" /standard_name="RH104252" /db_xref="UniSTS:98577" polyA_signal 4346..4351 /gene="NIN" /gene_synonym="SCKL7" polyA_site 4369 /gene="NIN" /gene_synonym="SCKL7" ORIGIN
ccgagccgggagccgagcgcgctgggcgcggccgtcccgctgccgccgccaagcccggagtgcgccagcggccatggttcccgcggcggcgccgggcgcctgagccccgggacgcaagcgctggaggcgggctgccggctgtgcgggcgctccggagagaccgacagaaggtgagcactgtgggctatgggatggatgaggtggagcaggaccagcatgaggcccgactcaaggagctgtttgacagttttgacacgacgggcacagggtccctggggcaggaggaactcaccgacctttgccacatgttgagcttggaggaggtggccccagtgctgcagcagacattacttcaggacaacctcttgggcagggtacattttgaccaatttaaagaagcattaatactcatcttgtccagaactctgtcaaatgaagaacactttcaagaaccagactgctcactagaagctcagcccaaatatgttagaggtgggaagcgttacggacgaaggtccttgcccgagttccaagagtccgtggaggagtttcctgaagtgacggtgattgagccactggatgaagaagcgcggccttcacacatcccagccggtgactgcagtgagcactggaagacgcaacgcagtgaggagtatgaagcggaaggccagttaaggttttggaacccagatgacttgaatgcttcacagagtggatcttcccctccccaagactggatagaagagaaactgcaagaagtttgtgaagatttggggatcacccgtgatggtcacctgaaccggaagaagctggtctccatctgtgagcagtatggtttacagaatgtggatggagagatgctcgaggaagtattccataatcttgatcctgacggtacaatgagtgtagaagattttttctatggtttgtttaaaaatggaaaatctcttacaccatcagcatctactccatatagacaactaaaaaggcacctttccatgcagtctttcgatgagagtggacgacgtaccacaacctcatcagcaatgacaagtaccattggctttcgggtcttctcctgcctggatgatgggatgggccatgcatctgtggagagaatactggacacctggcaggaagagggcattgagaacagccaggagatcctgaaggccttggatttcagcctcgatggaaacatcaatttgacagaattaacactggcccttgaaaatgaacttttggttaccaagaacagcattcaccaggcggctctggccagctttaaggctgaaatccggcatttgttggaacgagttgatcaggtggtcagagaaaaagagaagctacggtcagatctggacaaggccgagaagctcaagtctttaatggcctcggaggtggatgatcaccatgcggccatagagcggcggaatgagtacaacctcaggaaactggatgaagagtacaaggagcgaatagcagccttaaaaaatgaactccgaaaagagagagagcagatcctgcagcaggcaggcaagcagcgtttagaacttgaacaggaaattgaaaaggcaaaaacagaagagaactatatccgggaccgccttgccctctctttaaaggaaaacagtcgtctggaaaatgagcttctagaaaatgcagagaagttggcagaatatgagaatctgacaaacaaacttcagagaaatttggaaaatgtgttagcagaaaagtttggtgacctcgatcctagcagtgctgagttcttcctgcaagaagagagactgacacagatgagaaatgaatatgagcggcagtgcagggtactacaagaccaagtagatgaactccagtctgagctggaagaatatcgtgcacaaggcagagtgctcaggcttccgttgaagaactcaccgtcagaagaagttgaggctaacagcggtggcattgagcccgaacacgggctcggttctgaagaatgcaatccattgaatatgagcattgaggcagagctggtcattgaacagatgaaagaacaacatcacagggacatatgttgcctcagactggagctcgaagataaagtgcgccattatgaaaagcagctggacgaaaccgtggtcagctgcaagaaggcacaggagaacatgaagcaaaggcatgagaacgaaacgcacaccttagaaaaacaaataagtgaccttaaaaatgaaattgctgaacttcaggggcaagcagcagtgctcaaggaggcacatcatgaggccacttgcaggcatgaggaggagaaaaaacaactgcaagtgaagcttgaggaggaaaagactcacctgcaggagaagctgaggctgcaacatgagatggagctcaaggctagactgacacaggctcaagcaagctttgagcgggagagggaaggccttcagagtagcgcctggacagaagagaaggtgagaggcttgactcaggaactagagcagtttcaccaggagcagctgacaagcctggtggagaaacacactcttgagaaagaggagttaagaaaagagctcttggaaaagcaccaaagggagcttcaggagggaagatatgaatctgaaaagcttcaacaggaaaattctattttgagaaatgaaattactactttaaatgaagaagatagcatttctaacctgaaattagggacattaaatggatctcaggaagaaatgtggcaaaaaacggaaactgtaaaacaagaaaatgctgcagttcagaagatggttgaaaatttaaagaaacagatttcagaattaaaaatcaaaaaccaacaattggatttggaaaatacagaacttagccaaaagaactctcaaaaccaggaaaaactgcaagaacttaatcaacgtctaacagaaatgctatgccagaaggaaaaagagccaggaaacagtgcattggaggaacgggaacaagagaagtttaatctgaaagaagaactggaacgttgtaaagtgcagtcctccactttagtgtcttctctggaggcggagctctctgaagttaaaatacagacccatattgtgcaacaggaaaaccaccttctcaaagatgaactggagaaaatgaaacagctgcacagatgtcccgatctctctgacttccagcaaaaaatctctagtgttctaagctacaacgaaaaactgctgaaagaaaaggaagctctgagtgaggaattaaatagctgtgtcgataagttggcaaaatcaagtcttttagagcatagaattgcgacgatgaagcaggaacagaaatcctgggaacatcagagtgcgagcttaaagtcacagctggtggcttctcaggaaaaggttcagaatttagaagacaccgtgcagaatgtaaacctgcaaatgtcccggatgaaatctgacctacgagtgactcagcaggaaaaggaggctttaaaacaagaagtgatgtctttacataagcaacttcagaatgctggtggcaagagctgggccccagagatagctactcatccatcagggctccataaccagcagaaaaggctgtcctgggacaagttggatcatctgatgaatgaggaacagcagctgctttggcaagagaatgagaggctccagaccatggtacagaacaccaaagccgaactcacgcactcccgggagaaggtccgtcagttggaatccaatcttcttcccaagcaccaaaaacatctaaacccatcaggtaccatgaatcccacagagcaagaaaaattgagcttaaagagagagtgtgatcagtttcagaaagaacaatctcctgctaacaggaaggtcagtcagatgaattcccttgaacaagaattagaaacaattcatttggaaaatgaaggcctgaaaaagaaacaagtaaaactggatgagcagctcatggagatgcagcacctgaggtccactgcgacgcctagcccgtcccctcatgcttgggatttgcagctgctccagcagcaagcctgtccgatggtgcccagggagcagtttctgcagcttcaacgccagctgctgcaggcagaaaggataaaccagcacctgcaggaggaacttgaaaacaggacctccgaaaccaacacaccacagggaaaccaggaacaactggtaactgtcatggaggaacgaatgatagaagttgaacagaaactgaaactagtgaaaaggcttcttcaagagaaagtgaatcagctcaaagaacaagtgagcctacccggtcatctctgttcacccacctcacattccagctttaactccagttttacatccctttattgccattaactcgttaacttatgttgtctaataaaggcaaattctattataaaaaaaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:51199 -> Molecular function: GO:0005509 [calcium ion binding] evidence: IEA GeneID:51199 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:51199 -> Molecular function: GO:0005525 [GTP binding] evidence: IEA GeneID:51199 -> Biological process: GO:0034454 [microtubule anchoring at centrosome] evidence: IEA GeneID:51199 -> Biological process: GO:0051642 [centrosome localization] evidence: TAS GeneID:51199 -> Biological process: GO:0090222 [centrosome-templated microtubule nucleation] evidence: IEA GeneID:51199 -> Cellular component: GO:0005813 [centrosome] evidence: IDA GeneID:51199 -> Cellular component: GO:0005814 [centriole] evidence: IEA GeneID:51199 -> Cellular component: GO:0005874 [microtubule] evidence: IEA
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