2024-04-26 04:57:51, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_006384 995 bp mRNA linear PRI 01-JUN-2013 DEFINITION Homo sapiens calcium and integrin binding 1 (calmyrin) (CIB1), transcript variant b, mRNA. ACCESSION NM_006384 VERSION NM_006384.3 GI:163644312 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 995) AUTHORS Armacki,M., Joodi,G., Nimmagadda,S.C., de Kimpe,L., Pusapati,G.V., Vandoninck,S., Van Lint,J., Illing,A. and Seufferlein,T. TITLE A novel splice variant of calcium and integrin-binding protein 1 mediates protein kinase D2-stimulated tumour growth by regulating angiogenesis JOURNAL Oncogene (2013) In press PUBMED 23503467 REMARK Publication Status: Available-Online prior to print REFERENCE 2 (bases 1 to 995) AUTHORS Zhao,F., Zhang,S., Chen,L., Wu,Y., Qin,J., Shao,Y., Wang,X. and Chen,Y. TITLE Calcium- and integrin-binding protein-1 and calcineurin are upregulated in the right atrial myocardium of patients with atrial fibrillation JOURNAL Europace 14 (12), 1726-1733 (2012) PUBMED 22547769 REMARK GeneRIF: The CIB1 and calcineurin expression was increased in AF atrial tissue and was related to the type of AF. This finding suggests that CIB1 may be involved in the pathogenesis of AF in VHD patients. REFERENCE 3 (bases 1 to 995) AUTHORS Huang,H., Bogstie,J.N. and Vogel,H.J. TITLE Biophysical and structural studies of the human calcium- and integrin-binding protein family: understanding their functional similarities and differences JOURNAL Biochem. Cell Biol. 90 (5), 646-656 (2012) PUBMED 22779914 REFERENCE 4 (bases 1 to 995) AUTHORS Leisner,T.M., Moran,C., Holly,S.P. and Parise,L.V. TITLE CIB1 prevents nuclear GAPDH accumulation and non-apoptotic tumor cell death via AKT and ERK signaling JOURNAL Oncogene (2012) In press PUBMED 22964641 REMARK Publication Status: Available-Online prior to print REFERENCE 5 (bases 1 to 995) AUTHORS Naik,M.U. and Naik,U.P. TITLE Contra-regulation of calcium- and integrin-binding protein 1-induced cell migration on fibronectin by PAK1 and MAP kinase signaling JOURNAL J. Cell. Biochem. 112 (11), 3289-3299 (2011) PUBMED 21748785 REMARK GeneRIF: results suggest that CIB1 positively regulates cell migration and is necessary for the recruitment of FAK to the focal adhesions. Furthermore, CIB1-induced cell migration is dependent on MAP kinase signaling and its function is attenuated by PAK1 REFERENCE 6 (bases 1 to 995) AUTHORS Junrong,T., Huancheng,Z., Feng,H., Yi,G., Xiaoqin,Y., Zhengmao,L., Hong,Z., Jianying,Z., Yin,W., Yuanhang,H., Jianlin,Z., Longhua,S. and Guolin,H. TITLE Proteomic identification of CIB1 as a potential diagnostic factor in hepatocellular carcinoma JOURNAL J. Biosci. 36 (4), 659-668 (2011) PUBMED 21857112 REMARK GeneRIF: CIB1 may be used as a novel prognostic factor and possibly an attractive therapeutic target for hepatocellular carcinoma. REFERENCE 7 (bases 1 to 995) AUTHORS Stabler,S.M., Ostrowski,L.L., Janicki,S.M. and Monteiro,M.J. TITLE A myristoylated calcium-binding protein that preferentially interacts with the Alzheimer's disease presenilin 2 protein JOURNAL J. Cell Biol. 145 (6), 1277-1292 (1999) PUBMED 10366599 REFERENCE 8 (bases 1 to 995) AUTHORS Seki,N., Hayashi,A., Abe,M., Araki,R., Fujimori,A., Fukumura,R., Hattori,A., Kozuma,S., Ohhira,M., Hori,T. and Saito,T. TITLE Chromosomal assignment of the gene for human DNA-PKcs interacting protein (KIP) on chromosome 15q25.3-q26.1 by somatic hybrid analysis and fluorescence in situ hybridization JOURNAL J. Hum. Genet. 43 (4), 275-277 (1998) PUBMED 9852683 REFERENCE 9 (bases 1 to 995) AUTHORS Wu,X. and Lieber,M.R. TITLE Interaction between DNA-dependent protein kinase and a novel protein, KIP JOURNAL Mutat. Res. 385 (1), 13-20 (1997) PUBMED 9372844 REFERENCE 10 (bases 1 to 995) AUTHORS Naik,U.P., Patel,P.M. and Parise,L.V. TITLE Identification of a novel calcium-binding protein that interacts with the integrin alphaIIb cytoplasmic domain JOURNAL J. Biol. Chem. 272 (8), 4651-4654 (1997) PUBMED 9030514 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from CD622547.1, U82226.1 and AA769426.1. On Dec 20, 2007 this sequence version replaced gi:9951921. Summary: This gene encodes a member of the EF-hand domain-containing calcium-binding superfamily. The encoded protein interacts with many other proteins, including the platelet integrin alpha-IIb-beta-3, DNA-dependent protein kinase, presenilin-2, focal adhesion kinase, p21 activated kinase, and protein kinase D. The encoded protein may be involved in cell survival and proliferation, and is associated with several disease states including cancer and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]. Transcript Variant: This variant (b) uses an alternate splice site in the coding region, compared to variant a. The encoded isoform (b, also known as CIB1) is shorter, compared to isoform a. 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 :: BQ220032.1, BQ646587.1 [ECO:0000332] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-116 CD622547.1 8-123 117-971 U82226.1 1-855 972-995 AA769426.1 1-24 c FEATURES Location/Qualifiers source 1..995 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="15" /map="15q25.3-q26" gene 1..995 /gene="CIB1" /gene_synonym="CIB; CIBP; KIP1; PRKDCIP; SIP2-28" /note="calcium and integrin binding 1 (calmyrin)" /db_xref="GeneID:10519" /db_xref="HGNC:16920" /db_xref="MIM:602293" exon 1..213 /gene="CIB1" /gene_synonym="CIB; CIBP; KIP1; PRKDCIP; SIP2-28" /inference="alignment:Splign:1.39.8" misc_feature 106..108 /gene="CIB1" /gene_synonym="CIB; CIBP; KIP1; PRKDCIP; SIP2-28" /note="upstream in-frame stop codon" CDS 163..738 /gene="CIB1" /gene_synonym="CIB; CIBP; KIP1; PRKDCIP; SIP2-28" /note="isoform b is encoded by transcript variant b; DNA-dependent protein kinase interacting protein; DNA-PKcs-interacting protein; SNK-interacting protein 2-28; DNA-PK interaction protein" /codon_start=1 /product="calcium and integrin-binding protein 1 isoform b" /protein_id="NP_006375.2" /db_xref="GI:163644313" /db_xref="CCDS:CCDS10360.1" /db_xref="GeneID:10519" /db_xref="HGNC:16920" /db_xref="MIM:602293" /translation="
MGGSGSRLSKELLAEYQDLTFLTKQEILLAHRRFCELLPQEQRSVESSLRAQVPFEQILSLPELKANPFKERICRVFSTSPAKDSLSFEDFLDLLSVFSDTATPDIKSHYAFRIFDFDDDGTLNREDLSRLVNCLTGEGEDTRLSASEMKQLIDNILEESDIDRDGTINLSEFQHVISRSPDFASSFKIVL
" misc_feature 493..696 /gene="CIB1" /gene_synonym="CIB; CIBP; KIP1; PRKDCIP; SIP2-28" /note="EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to...; Region: EFh; cd00051" /db_xref="CDD:28933" misc_feature 499..693 /gene="CIB1" /gene_synonym="CIB; CIBP; KIP1; PRKDCIP; SIP2-28" /note="EF-hand domain pair; Region: EF_hand_5; pfam13499" /db_xref="CDD:205677" misc_feature order(508..510,514..516,520..522,541..543,643..645, 649..651,655..657,676..678) /gene="CIB1" /gene_synonym="CIB; CIBP; KIP1; PRKDCIP; SIP2-28" /note="Ca2+ binding site [ion binding]; other site" /db_xref="CDD:28933" exon 214..248 /gene="CIB1" /gene_synonym="CIB; CIBP; KIP1; PRKDCIP; SIP2-28" /inference="alignment:Splign:1.39.8" exon 249..357 /gene="CIB1" /gene_synonym="CIB; CIBP; KIP1; PRKDCIP; SIP2-28" /inference="alignment:Splign:1.39.8" variation 293 /gene="CIB1" /gene_synonym="CIB; CIBP; KIP1; PRKDCIP; SIP2-28" /replace="c" /replace="g" /db_xref="dbSNP:3210935" variation 294 /gene="CIB1" /gene_synonym="CIB; CIBP; KIP1; PRKDCIP; SIP2-28" /replace="c" /replace="t" /db_xref="dbSNP:1127801" variation 324 /gene="CIB1" /gene_synonym="CIB; CIBP; KIP1; PRKDCIP; SIP2-28" /replace="c" /replace="t" /db_xref="dbSNP:1139752" exon 358..508 /gene="CIB1" /gene_synonym="CIB; CIBP; KIP1; PRKDCIP; SIP2-28" /inference="alignment:Splign:1.39.8" variation 404 /gene="CIB1" /gene_synonym="CIB; CIBP; KIP1; PRKDCIP; SIP2-28" /replace="a" /replace="c" /db_xref="dbSNP:1139757" variation 431 /gene="CIB1" /gene_synonym="CIB; CIBP; KIP1; PRKDCIP; SIP2-28" /replace="a" /replace="g" /db_xref="dbSNP:1804798" STS 480..548 /gene="CIB1" /gene_synonym="CIB; CIBP; KIP1; PRKDCIP; SIP2-28" /standard_name="CIB1" /db_xref="UniSTS:503072" misc_feature 508..543 /gene="CIB1" /gene_synonym="CIB; CIBP; KIP1; PRKDCIP; SIP2-28" /note="encodes an EF-hand motif, putative calcium binding domain" exon 509..627 /gene="CIB1" /gene_synonym="CIB; CIBP; KIP1; PRKDCIP; SIP2-28" /inference="alignment:Splign:1.39.8" exon 628..716 /gene="CIB1" /gene_synonym="CIB; CIBP; KIP1; PRKDCIP; SIP2-28" /inference="alignment:Splign:1.39.8" misc_feature 643..678 /gene="CIB1" /gene_synonym="CIB; CIBP; KIP1; PRKDCIP; SIP2-28" /note="encodes an EF-hand motif; putative calcium binding domain" variation 645 /gene="CIB1" /gene_synonym="CIB; CIBP; KIP1; PRKDCIP; SIP2-28" /replace="c" /replace="t" /db_xref="dbSNP:11551248" exon 717..977 /gene="CIB1" /gene_synonym="CIB; CIBP; KIP1; PRKDCIP; SIP2-28" /inference="alignment:Splign:1.39.8" variation 757 /gene="CIB1" /gene_synonym="CIB; CIBP; KIP1; PRKDCIP; SIP2-28" /replace="c" /replace="t" /db_xref="dbSNP:1804804" polyA_signal 952..957 /gene="CIB1" /gene_synonym="CIB; CIBP; KIP1; PRKDCIP; SIP2-28" polyA_site 977 /gene="CIB1" /gene_synonym="CIB; CIBP; KIP1; PRKDCIP; SIP2-28" ORIGIN
ggctgggaacgcctggcagcttttaggagggggcgggcccgggggtggtggccccaggagcggttgccgcggggaccgggcagtgacgcggcccaagggcggaagtgagaaagttgtctgcgtctcgaggcgagttggcggagctgtgcgcgcggcggggcgatggggggctcgggcagtcgcctgtccaaggagctgctggccgagtaccaggacttgacgttcctgacgaagcaggagatcctcctagcccacaggcggttttgtgagctgcttccccaggagcagcggagcgtggagtcgtcacttcgggcacaagtgcccttcgagcagattctcagccttccagagctcaaggccaaccccttcaaggagcgaatctgcagggtcttctccacatccccagccaaagacagccttagctttgaggacttcctggatctcctcagtgtgttcagtgacacagccacgccagacatcaagtcccattatgccttccgcatctttgactttgatgatgacggaaccttgaacagagaagacctgagccggctggtgaactgcctcacgggagagggcgaggacacacggcttagtgcgtctgagatgaagcagctcatcgacaacatcctggaggagtctgacattgacagggatggaaccatcaacctctctgagttccagcacgtcatctcccgttctccagactttgccagctcctttaagattgtcctgtgacagcagccccagcgtgtgtcctggcaccctgtccaagaacctttctactgctgagctgtggccaaggtcaagcctgtgttgccagtgcgggccaagctggcccagcctggagctggcgctgtgcagcctcaccccgggcaggggcggccctcgttgtcagggcctctcctcactgctgttgtcattgctccgtttgtgtttgtactaatcagtaataaaggtttagaagtttgaccctaaaaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:10519 -> Molecular function: GO:0005509 [calcium ion binding] evidence: IMP GeneID:10519 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:10519 -> Molecular function: GO:0043495 [protein anchor] evidence: IGI GeneID:10519 -> Molecular function: GO:0044325 [ion channel binding] evidence: IEA GeneID:10519 -> Biological process: GO:0006302 [double-strand break repair] evidence: TAS GeneID:10519 -> Biological process: GO:0006915 [apoptotic process] evidence: IMP GeneID:10519 -> Biological process: GO:0006974 [response to DNA damage stimulus] evidence: IDA GeneID:10519 -> Biological process: GO:0007113 [endomitotic cell cycle] evidence: IDA GeneID:10519 -> Biological process: GO:0007155 [cell adhesion] evidence: TAS GeneID:10519 -> Biological process: GO:0008285 [negative regulation of cell proliferation] evidence: IMP GeneID:10519 -> Biological process: GO:0070886 [positive regulation of calcineurin-NFAT signaling cascade] evidence: IDA GeneID:10519 -> Biological process: GO:0090004 [positive regulation of establishment of protein localization to plasma membrane] evidence: IGI GeneID:10519 -> Biological process: GO:0097191 [extrinsic apoptotic signaling pathway] evidence: TAS GeneID:10519 -> Cellular component: GO:0005654 [nucleoplasm] evidence: IMP GeneID:10519 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA GeneID:10519 -> Cellular component: GO:0005737 [cytoplasm] evidence: IMP GeneID:10519 -> Cellular component: GO:0005783 [endoplasmic reticulum] evidence: IMP GeneID:10519 -> Cellular component: GO:0016020 [membrane] evidence: IDA GeneID:10519 -> Cellular component: GO:0016324 [apical plasma membrane] evidence: IEA GeneID:10519 -> Cellular component: GO:0030175 [filopodium] evidence: IEA GeneID:10519 -> Cellular component: GO:0042383 [sarcolemma] evidence: IDA
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