2024-04-19 21:18:11, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001184960 3864 bp mRNA linear PRI 29-APR-2013 DEFINITION Homo sapiens SH3-domain kinase binding protein 1 (SH3KBP1), transcript variant 3, mRNA. ACCESSION NM_001184960 VERSION NM_001184960.1 GI:296785053 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 3864) AUTHORS Minegishi,Y., Shibagaki,Y., Mizutani,A., Fujita,K., Tezuka,T., Kinoshita,M., Kuroda,M., Hattori,S. and Gotoh,N. TITLE Adaptor protein complex of FRS2beta and CIN85/CD2AP provides a novel mechanism for ErbB2/HER2 protein downregulation JOURNAL Cancer Sci. 104 (3), 345-352 (2013) PUBMED 23279575 REMARK GeneRIF: an FRS2beta-CIN85/CD2AP-Cbl axis for downregulation of ErbB2 may regulate ErbB2 protein levels in physiological and pathological settings REFERENCE 2 (bases 1 to 3864) AUTHORS Samoylenko,A., Vynnytska-Myronovska,B., Byts,N., Kozlova,N., Basaraba,O., Pasichnyk,G., Palyvoda,K., Bobak,Y., Barska,M., Mayevska,O., Rzhepetsky,Y., Shuvayeva,H., Lyzogubov,V., Usenko,V., Savran,V., Volodko,N., Buchman,V., Kietzmann,T. and Drobot,L. TITLE Increased levels of the HER1 adaptor protein Rukl/CIN85 contribute to breast cancer malignancy JOURNAL Carcinogenesis 33 (10), 1976-1984 (2012) PUBMED 22791810 REMARK GeneRIF: this study indicates that high levels of Ruk(l)/CIN85 contribute to the conversion of breast adenocarcinoma cells into a more malignant phenotype via modulation of the Src/Akt pathway. REFERENCE 3 (bases 1 to 3864) AUTHORS Schroeder,B., Srivatsan,S., Shaw,A., Billadeau,D. and McNiven,M.A. TITLE CIN85 phosphorylation is essential for EGFR ubiquitination and sorting into multivesicular bodies JOURNAL Mol. Biol. Cell 23 (18), 3602-3611 (2012) PUBMED 22833562 REMARK GeneRIF: Data show that EGFR activation leads to a pronounced src-mediated tyrosine phosphorylation of CIN85 that subsequently influences EGFR ubiquitination. REFERENCE 4 (bases 1 to 3864) AUTHORS Niiro,H., Jabbarzadeh-Tabrizi,S., Kikushige,Y., Shima,T., Noda,K., Ota,S., Tsuzuki,H., Inoue,Y., Arinobu,Y., Iwasaki,H., Shimoda,S., Baba,E., Tsukamoto,H., Horiuchi,T., Taniyama,T. and Akashi,K. TITLE CIN85 is required for Cbl-mediated regulation of antigen receptor signaling in human B cells JOURNAL Blood 119 (10), 2263-2273 (2012) PUBMED 22262777 REMARK GeneRIF: Data show that CIN85 (c-Cbl interacting protein of 85 kDa) is constitutively associated with c-Cbl, Cbl-b, and B-cell linker in B cells. REFERENCE 5 (bases 1 to 3864) AUTHORS Soubeyran,P., Kowanetz,K., Szymkiewicz,I., Langdon,W.Y. and Dikic,I. TITLE Cbl-CIN85-endophilin complex mediates ligand-induced downregulation of EGF receptors JOURNAL Nature 416 (6877), 183-187 (2002) PUBMED 11894095 REMARK GeneRIF: Cbl-CIN85-endophilin complex mediates ligand-induced downregulation of EGF receptors Erratum:[Nature 2002 May 2;417(6884):102] REFERENCE 6 (bases 1 to 3864) AUTHORS Narita,T., Amano,F., Yoshizaki,K., Nishimoto,N., Nishimura,T., Tajima,T., Namiki,H. and Taniyama,T. TITLE Assignment of SH3KBP1 to human chromosome band Xp22.1-->p21.3 by in situ hybridization JOURNAL Cytogenet. Cell Genet. 93 (1-2), 133-134 (2001) PUBMED 11474197 REFERENCE 7 (bases 1 to 3864) AUTHORS Watanabe,S., Take,H., Takeda,K., Yu,Z.X., Iwata,N. and Kajigaya,S. TITLE Characterization of the CIN85 adaptor protein and identification of components involved in CIN85 complexes JOURNAL Biochem. Biophys. Res. Commun. 278 (1), 167-174 (2000) PUBMED 11071869 REFERENCE 8 (bases 1 to 3864) AUTHORS Gout,I., Middleton,G., Adu,J., Ninkina,N.N., Drobot,L.B., Filonenko,V., Matsuka,G., Davies,A.M., Waterfield,M. and Buchman,V.L. TITLE Negative regulation of PI 3-kinase by Ruk, a novel adaptor protein JOURNAL EMBO J. 19 (15), 4015-4025 (2000) PUBMED 10921882 REFERENCE 9 (bases 1 to 3864) AUTHORS Take,H., Watanabe,S., Takeda,K., Yu,Z.X., Iwata,N. and Kajigaya,S. TITLE Cloning and characterization of a novel adaptor protein, CIN85, that interacts with c-Cbl JOURNAL Biochem. Biophys. Res. Commun. 268 (2), 321-328 (2000) PUBMED 10679202 REFERENCE 10 (bases 1 to 3864) AUTHORS Salvatore,P., Hanash,C.R., Kido,Y., Imai,Y. and Accili,D. TITLE Identification of sirm, a novel insulin-regulated SH3 binding protein that associates with Grb-2 and FYN JOURNAL J. Biol. Chem. 273 (12), 6989-6997 (1998) PUBMED 9507006 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DC359739.1, BP224209.1, AK293237.1, AL732327.6 and AL732423.12. Summary: This gene encodes an adapter protein that contains three N-terminal Src homology domains, a proline rich region and a C-terminal coiled-coil domain. The encoded protein facilitates protein-protein interactions and has been implicated in numerous cellular processes including apoptosis, cytoskeletal rearrangement, cell adhesion and in the regulation of clathrin-dependent endocytosis. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]. Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (c) has a distinct N-terminus and is shorter than 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. 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 :: AK293237.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025084, ERS025088 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-1 DC359739.1 4-4 2-100 BP224209.1 1-99 101-276 AK293237.1 1-176 277-277 AL732327.6 45621-45621 c 278-690 AK293237.1 178-590 691-691 AL732327.6 2387-2387 c 692-1478 AK293237.1 592-1378 1479-3864 AL732423.12 133973-136358 c FEATURES Location/Qualifiers source 1..3864 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="X" /map="Xp22.1-p21.3" gene 1..3864 /gene="SH3KBP1" /gene_synonym="CD2BP3; CIN85; GIG10; HSB-1; HSB1; MIG18" /note="SH3-domain kinase binding protein 1" /db_xref="GeneID:30011" /db_xref="HGNC:13867" /db_xref="MIM:300374" exon 1..140 /gene="SH3KBP1" /gene_synonym="CD2BP3; CIN85; GIG10; HSB-1; HSB1; MIG18" /inference="alignment:Splign:1.39.8" misc_feature 105..107 /gene="SH3KBP1" /gene_synonym="CD2BP3; CIN85; GIG10; HSB-1; HSB1; MIG18" /note="upstream in-frame stop codon" CDS 129..1412 /gene="SH3KBP1" /gene_synonym="CD2BP3; CIN85; GIG10; HSB-1; HSB1; MIG18" /note="isoform c is encoded by transcript variant 3; Src family kinase-binding protein 1; src-related kinase binding protein-1; SH3 domain-containing kinase-binding protein 1; CD2-binding protein 3; migration-inducing gene 18; c-Cbl-interacting protein; cbl-interacting protein of 85 kDa; human Src family kinase-binding protein 1" /codon_start=1 /product="SH3 domain-containing kinase-binding protein 1 isoform c" /protein_id="NP_001171889.1" /db_xref="GI:296785054" /db_xref="CCDS:CCDS55383.1" /db_xref="GeneID:30011" /db_xref="HGNC:13867" /db_xref="MIM:300374" /translation="
MGEETIGKKLPATTATPDSSKTEMDSRTKSKDYCKVIFPYEAQNDDELTIKEGDIVTLINKDCIDVGWWEGELNGRRGVFPDNFVKLLPPDFEKEGNRPKKPPPPSAPVIKQGAGTTERKHEIKKIPPERPEMLPNRTEEKERPEREPKLDLQKPSVPAIPPKKPRPPKTNSLSRPGALPPRRPERPVGPLTHTRGDSPKIDLAGSSLSGILDKDLSDRSNDIDLEGFDSVVSSTEKLSHPTTSRPKATGRRPPSQSLTSSSLSSPDIFDSPSPEEDKEEHISLAHRGVDASKKTSKTVTISQVSDNKASLPPKPGTMAAGGGGPAPLSSAAPSPLSSSLGTAGHRANSPSLFGTEGKPKMEPAASSQAAVEELRTQVRELRSIIETMKDQQKREIKQLLSELDEEKKIRLRLQMEVNDIKKALQSK
" misc_feature 225..392 /gene="SH3KBP1" /gene_synonym="CD2BP3; CIN85; GIG10; HSB-1; HSB1; MIG18" /note="Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa; Region: SH3_CIN85_3; cd12057" /db_xref="CDD:212990" misc_feature order(237..260,264..269,279..284,321..332,360..365, 369..371,375..380,384..386) /gene="SH3KBP1" /gene_synonym="CD2BP3; CIN85; GIG10; HSB-1; HSB1; MIG18" /note="ubiquitin interaction site [polypeptide binding]; other site" /db_xref="CDD:212990" misc_feature order(240..242,246..248,255..257,267..269,324..332, 363..365,369..371,375..380) /gene="SH3KBP1" /gene_synonym="CD2BP3; CIN85; GIG10; HSB-1; HSB1; MIG18" /note="putative peptide ligand binding site [polypeptide binding]; other site" /db_xref="CDD:212990" exon 141..216 /gene="SH3KBP1" /gene_synonym="CD2BP3; CIN85; GIG10; HSB-1; HSB1; MIG18" /inference="alignment:Splign:1.39.8" exon 217..311 /gene="SH3KBP1" /gene_synonym="CD2BP3; CIN85; GIG10; HSB-1; HSB1; MIG18" /inference="alignment:Splign:1.39.8" variation 217 /gene="SH3KBP1" /gene_synonym="CD2BP3; CIN85; GIG10; HSB-1; HSB1; MIG18" /replace="g" /replace="t" /db_xref="dbSNP:11552354" exon 312..419 /gene="SH3KBP1" /gene_synonym="CD2BP3; CIN85; GIG10; HSB-1; HSB1; MIG18" /inference="alignment:Splign:1.39.8" exon 420..471 /gene="SH3KBP1" /gene_synonym="CD2BP3; CIN85; GIG10; HSB-1; HSB1; MIG18" /inference="alignment:Splign:1.39.8" exon 472..552 /gene="SH3KBP1" /gene_synonym="CD2BP3; CIN85; GIG10; HSB-1; HSB1; MIG18" /inference="alignment:Splign:1.39.8" exon 553..712 /gene="SH3KBP1" /gene_synonym="CD2BP3; CIN85; GIG10; HSB-1; HSB1; MIG18" /inference="alignment:Splign:1.39.8" variation 680 /gene="SH3KBP1" /gene_synonym="CD2BP3; CIN85; GIG10; HSB-1; HSB1; MIG18" /replace="a" /replace="g" /db_xref="dbSNP:2290805" exon 713..798 /gene="SH3KBP1" /gene_synonym="CD2BP3; CIN85; GIG10; HSB-1; HSB1; MIG18" /inference="alignment:Splign:1.39.8" exon 799..908 /gene="SH3KBP1" /gene_synonym="CD2BP3; CIN85; GIG10; HSB-1; HSB1; MIG18" /inference="alignment:Splign:1.39.8" exon 909..1037 /gene="SH3KBP1" /gene_synonym="CD2BP3; CIN85; GIG10; HSB-1; HSB1; MIG18" /inference="alignment:Splign:1.39.8" exon 1038..1306 /gene="SH3KBP1" /gene_synonym="CD2BP3; CIN85; GIG10; HSB-1; HSB1; MIG18" /inference="alignment:Splign:1.39.8" variation 1238 /gene="SH3KBP1" /gene_synonym="CD2BP3; CIN85; GIG10; HSB-1; HSB1; MIG18" /replace="c" /replace="t" /db_xref="dbSNP:11552353" exon 1307..1370 /gene="SH3KBP1" /gene_synonym="CD2BP3; CIN85; GIG10; HSB-1; HSB1; MIG18" /inference="alignment:Splign:1.39.8" exon 1371..3864 /gene="SH3KBP1" /gene_synonym="CD2BP3; CIN85; GIG10; HSB-1; HSB1; MIG18" /inference="alignment:Splign:1.39.8" STS 2161..2345 /gene="SH3KBP1" /gene_synonym="CD2BP3; CIN85; GIG10; HSB-1; HSB1; MIG18" /standard_name="RH18201" /db_xref="UniSTS:41536" variation 2364 /gene="SH3KBP1" /gene_synonym="CD2BP3; CIN85; GIG10; HSB-1; HSB1; MIG18" /replace="c" /replace="t" /db_xref="dbSNP:200486212" polyA_signal 2394..2399 /gene="SH3KBP1" /gene_synonym="CD2BP3; CIN85; GIG10; HSB-1; HSB1; MIG18" polyA_site 2422 /gene="SH3KBP1" /gene_synonym="CD2BP3; CIN85; GIG10; HSB-1; HSB1; MIG18" STS 3438..3607 /gene="SH3KBP1" /gene_synonym="CD2BP3; CIN85; GIG10; HSB-1; HSB1; MIG18" /standard_name="RH94355" /db_xref="UniSTS:88071" STS 3621..3755 /gene="SH3KBP1" /gene_synonym="CD2BP3; CIN85; GIG10; HSB-1; HSB1; MIG18" /standard_name="G31065" /db_xref="UniSTS:30615" polyA_signal 3830..3835 /gene="SH3KBP1" /gene_synonym="CD2BP3; CIN85; GIG10; HSB-1; HSB1; MIG18" polyA_site 3852 /gene="SH3KBP1" /gene_synonym="CD2BP3; CIN85; GIG10; HSB-1; HSB1; MIG18" ORIGIN
tcatttggtcccaagtatgactcagggttaggctgggtcctcaggctccgtgctgttggaaggaagtgggaggattccaggggagttctgggaccttttcaaactgaagagaggaggctggctgcatcatgggagaagagactattgggaagaagttacctgcaactacagcaactccagactcatcaaaaacagaaatggacagcaggacaaagagcaaggattactgcaaagtaatatttccatatgaggcacagaatgatgatgaattgacaatcaaagaaggagatatagtcactctcatcaataaggactgcatcgacgtaggctggtgggaaggagagctgaacggcagacgaggcgtgttccccgataacttcgtgaagttacttccaccggactttgaaaaggaagggaatagacccaagaagccaccgcctccatccgctcctgtcatcaaacaaggggcaggcaccactgagagaaaacatgaaattaaaaagatacctcctgaaagaccagaaatgcttccaaacagaacagaagaaaaagaaagaccagagagagagccaaaactggatttacagaagccctccgttcctgccataccgccaaaaaagcctcggccacctaagaccaattctctcagcagacctggcgcactgcccccgagaaggccggagagaccggtgggtccgctgacacacaccaggggtgacagtccaaagattgacttggccggcagttcgctatctggcatcctggacaaagatctctcggaccgcagcaatgacattgacttagaaggttttgactccgtggtatcatctactgagaaactcagtcatccgaccacaagcagaccaaaagctacagggaggcggcctccgtcccagtccctcacatcttcatccctttcaagccctgatatcttcgactccccaagtcccgaagaggataaggaggaacacatttcacttgcgcacagaggagtggacgcgtcaaagaaaacttccaagactgttaccatatcccaagtgtctgacaacaaagcatccctgccgcccaagccggggaccatggcagcaggtggcggtgggccagcccctctgtcctcagcggcgccctcccccctgtcatcctctttgggaacagctggacacagagccaactccccgtctctgttcggcacggaaggaaaaccaaagatggagcctgcggccagcagccaggcggccgtggaggagctaaggacacaggtccgcgagctgaggagcatcatcgagaccatgaaggaccagcagaaacgagagattaaacagttattgtctgagttggatgaagagaagaaaatccggcttcggttgcagatggaagtgaacgacataaagaaagctctacaatcaaaatgaatacttgatcaatgaaatgtcacattattcatcctgagtccgagactcaaattttctgccccagccaaaataatcttgtgccaaaagattaaaggtttgcctcaaaatgtccctgtttgaaagattagcacaaaagtcttgatagcacaacacaaattccatccaagaggagaatcttccccagggtttagtcctggggctggcactcgttgtgacttacacagagcaaaattgtgctaaaggcttttctactctgagatctcaatgcgaaatgaaaactcaggcagtttagtccatagtggtactattttgatgatattttccattaataaaatgtaatttcagattattcgtttacaagctttataattttatgattttttaatcgtgttttgtcacagacttccctagtgtttgtactacacgtagtcagaagcgagtgtccttttcttttgcttcaggctaagagctgcctcgctctttgtccccccattaggattctattacatatgcaattgtaggttcaacctgtccctttccctgccagcaaaccccaccaccctaagagaaattttagcttatatatgacggtatatttacaaaaagagaaagagaaaatctggtatttgcaatgatctgtgccttctttttaccaccctcttgattggagcttttgtgatgcagctaccatgattcaaaaaaattaaaaattaaaaaaaaaaaatctgccacttatccaagtccactagaggccactgtcttcaaagcttctctcaccctagccaaaggtcctaagaggagacagctgtgaagttgggcgtgctctgtggtaccagctgtgacttttctatttctcctagttttaggttgttcatgaaactagaaatgtcatcctgcttgatttttcatcagccaagttaaacccctgctttctgtcctttgcaccttttgcgtgaacagaatatgcattattaaagcaaaaataaataaaagtaaaatgcaaatgaaaacaagggagggaaagttgtattatttcctgcactgggttacccgtgtgtgttatcgtttaaactgtattcacataatgtcatttgccttgctcacttgtaaccccttcctcaggtccaagagaatgggaggagggtcatgttgaagtgtagccactggaactttcttgcatttatggagttgctttttctttcccaaggaaactgatgtttgcctgtccgctttatctttgtagtacatgaacagttcagccttagactatgtaactgttttctcatccttagctgaaaatgaggggcctactgtattgcgagactgttcaggggtaggggtggagggggtggtcccttaatggcccctgaagatgttggatgtgtttctcaaaagctgctttgtctctttcctgagtttaatagtgaaactactaaacattaatagatttgcacagccacaaagaatgagagttgataataccgaagaagtgatgcaaaaacaaaaaatcacattactgatcattgatagtattacaaataaatgtctcttcctttctcttcctcccttcctccccctgccttcctcttaacctatgtgctcatccttgctacttgaggctgttatttccctccgagtatttaaggagcccaaacaccttggtcttcctgggtgggggcataattaagggaagggagtgtataaggaaggaaacctcataccctccattcccatccctggatatattgccttttcagcagcctcgggttcagtgtgcttggggtcaggagtgccaggttcccaagagcagcgtaaaacatccctgtaccccttgacagttataagcatttctgcgttaaacttgaagattccagagattccccacgacctaatgatctaagaatgcagattggattctttgatgttcaaatttctcatttacttatgaaaatccctaattatatagttttatataatgtgtatacagagtaggattgttgatgaaattgagcggttggaacaccctcatggaacactggcaacatggaatgtagagagctgatgtcttccccctcatagaggccattggcttcctttgtataaggagagggagaagtgattctggaaggagaagttggtatgtctagcttcattgcggcccctcgggctacccagcaagaggattctgcatcaaggaactggacgagccgctacccaaactgccaccatctttactctttacaaaatggacccatcgagaatgttgaaaagcttggaagtatcacttttgaaaaaaaaaaaaattattttgcattcagcatggactcgaccaggcatctatggagattatttttttgcttcattttataaagttgtatttagaaaagtcttaagtattgtgctttgtaaagaagatgattaaaatgaaattttgtgagaatagttttgttca
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:30011 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:30011 -> Molecular function: GO:0017124 [SH3 domain binding] evidence: IEA GeneID:30011 -> Biological process: GO:0006897 [endocytosis] evidence: IEA GeneID:30011 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA GeneID:30011 -> Biological process: GO:0007010 [cytoskeleton organization] evidence: IMP GeneID:30011 -> Biological process: GO:0007173 [epidermal growth factor receptor signaling pathway] evidence: TAS GeneID:30011 -> Biological process: GO:0007267 [cell-cell signaling] evidence: NAS GeneID:30011 -> Biological process: GO:0008360 [regulation of cell shape] evidence: IMP GeneID:30011 -> Biological process: GO:0016477 [cell migration] evidence: IMP GeneID:30011 -> Biological process: GO:0042059 [negative regulation of epidermal growth factor receptor signaling pathway] evidence: TAS GeneID:30011 -> Cellular component: GO:0005829 [cytosol] evidence: TAS GeneID:30011 -> Cellular component: GO:0005856 [cytoskeleton] evidence: IEA GeneID:30011 -> Cellular component: GO:0005886 [plasma membrane] evidence: TAS GeneID:30011 -> Cellular component: GO:0005925 [focal adhesion] evidence: IEA GeneID:30011 -> Cellular component: GO:0030659 [cytoplasmic vesicle membrane] evidence: IEA GeneID:30011 -> Cellular component: GO:0043005 [neuron projection] evidence: IEA GeneID:30011 -> Cellular component: GO:0045202 [synapse] evidence: IEA
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