2024-03-29 15:22:06, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001257326 2365 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 5, mRNA. ACCESSION NM_001257326 VERSION NM_001257326.1 GI:381388776 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 2365) AUTHORS Muller,T., Schrotter,A., Loosse,C., Pfeiffer,K., Theiss,C., Kauth,M., Meyer,H.E. and Marcus,K. TITLE A ternary complex consisting of AICD, FE65, and TIP60 down-regulates Stathmin1 JOURNAL Biochim. Biophys. Acta 1834 (1), 387-394 (2013) PUBMED 22902274 REMARK GeneRIF: A ternary complex consisting of AICD, FE65, and TIP60 down-regulates Stathmin1. REFERENCE 2 (bases 1 to 2365) AUTHORS Kim,M.Y., Mo,J.S., Ann,E.J., Yoon,J.H. and Park,H.S. TITLE Dual regulation of notch1 signaling pathway by adaptor protein fe65 JOURNAL J. Biol. Chem. 287 (7), 4690-4701 (2012) PUBMED 22199353 REMARK GeneRIF: Fe65 carries out different functions depending on its location in the regulation of Notch1 signaling. REFERENCE 3 (bases 1 to 2365) AUTHORS Domingues,S.C., Henriques,A.G., Fardilha,M., da Cruz E Silva,E.F. and da Cruz E Silva,O.A. TITLE Identification and characterization of a neuronal enriched novel transcript encoding the previously described p60Fe65 isoform JOURNAL J. Neurochem. 119 (5), 1086-1098 (2011) PUBMED 21824145 REMARK GeneRIF: A novel FE65 isoform and the regulation of the splicing events leading to its production may contribute to elucidating neuronal specific roles of FE65 and its contribution to Alzheimer's disease pathology. REFERENCE 4 (bases 1 to 2365) AUTHORS Klug,W., Dietl,A., Simon,B., Sinning,I. and Wild,K. TITLE Phosphorylation of LRP1 regulates the interaction with Fe65 JOURNAL FEBS Lett. 585 (20), 3229-3235 (2011) PUBMED 21968187 REMARK GeneRIF: Phosphorylation of LRP1 regulates the interaction with Fe65. REFERENCE 5 (bases 1 to 2365) AUTHORS Mulvihill,M.M., Guttman,M. and Komives,E.A. TITLE Protein interactions among Fe65, the low-density lipoprotein receptor-related protein, and the amyloid precursor protein JOURNAL Biochemistry 50 (28), 6208-6216 (2011) PUBMED 21650223 REMARK GeneRIF: Fe65 binds preferentially to low-density lipoprotein receptor-related protein (LRP) carboxyl terminus when phosphorylated at tyrosine-4507 and in complex with amyloid precursor protein (APP). REFERENCE 6 (bases 1 to 2365) AUTHORS Ermekova,K.S., Zambrano,N., Linn,H., Minopoli,G., Gertler,F., Russo,T. and Sudol,M. TITLE The WW domain of neural protein FE65 interacts with proline-rich motifs in Mena, the mammalian homolog of Drosophila enabled JOURNAL J. Biol. Chem. 272 (52), 32869-32877 (1997) PUBMED 9407065 REFERENCE 7 (bases 1 to 2365) AUTHORS Zambrano,N., Buxbaum,J.D., Minopoli,G., Fiore,F., De Candia,P., De Renzis,S., Faraonio,R., Sabo,S., Cheetham,J., Sudol,M. and Russo,T. TITLE Interaction of the phosphotyrosine interaction/phosphotyrosine binding-related domains of Fe65 with wild-type and mutant Alzheimer's beta-amyloid precursor proteins JOURNAL J. Biol. Chem. 272 (10), 6399-6405 (1997) PUBMED 9045663 REFERENCE 8 (bases 1 to 2365) AUTHORS McLoughlin,D.M. and Miller,C.C. TITLE The intracellular cytoplasmic domain of the Alzheimer's disease amyloid precursor protein interacts with phosphotyrosine-binding domain proteins in the yeast two-hybrid system JOURNAL FEBS Lett. 397 (2-3), 197-200 (1996) PUBMED 8955346 REFERENCE 9 (bases 1 to 2365) AUTHORS Borg,J.P., Ooi,J., Levy,E. and Margolis,B. TITLE The phosphotyrosine interaction domains of X11 and FE65 bind to distinct sites on the YENPTY motif of amyloid precursor protein JOURNAL Mol. Cell. Biol. 16 (11), 6229-6241 (1996) PUBMED 8887653 REFERENCE 10 (bases 1 to 2365) AUTHORS Bressler,S.L., Gray,M.D., Sopher,B.L., Hu,Q., Hearn,M.G., Pham,D.G., Dinulos,M.B., Fukuchi,K., Sisodia,S.S., Miller,M.A., Disteche,C.M. and Martin,G.M. TITLE cDNA cloning and chromosome mapping of the human Fe65 gene: interaction of the conserved cytoplasmic domains of the human beta-amyloid precursor protein and its homologues with the mouse Fe65 protein JOURNAL Hum. Mol. Genet. 5 (10), 1589-1598 (1996) PUBMED 8894693 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DC303314.1, AK293550.1 and BC010854.2. Summary: The protein encoded by this gene is a member of the Fe65 protein family. It is an adaptor protein localized in the nucleus. It interacts with the Alzheimer's disease amyloid precursor protein (APP), transcription factor CP2/LSF/LBP1 and the low-density lipoprotein receptor-related protein. APP functions as a cytosolic anchoring site that can prevent the gene product's nuclear translocation. This encoded protein could play an important role in the pathogenesis of Alzheimer's disease. It is thought to regulate transcription. Also it is observed to block cell cycle progression by downregulating thymidylate synthase expression. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012]. Transcript Variant: This variant (5) has an alternate 5' exon in place of the first two exons of variant 1. The resulting isoform (d) is shorter at the N-terminus compared to isoform a. Variants 4, 5, and 6 all encode the same isoform (d). 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 :: AK293550.1, AK293643.1 [ECO:0000332] 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 1-246 DC303314.1 2-247 247-2171 AK293550.1 1-1925 2172-2365 BC010854.2 2453-2646 FEATURES Location/Qualifiers source 1..2365 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="11" /map="11p15" gene 1..2365 /gene="APBB1" /gene_synonym="FE65; MGC:9072; RIR" /note="amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)" /db_xref="GeneID:322" /db_xref="HGNC:581" /db_xref="MIM:602709" exon 1..529 /gene="APBB1" /gene_synonym="FE65; MGC:9072; RIR" /inference="alignment:Splign:1.39.8" misc_feature 526..528 /gene="APBB1" /gene_synonym="FE65; MGC:9072; RIR" /note="upstream in-frame stop codon" exon 530..705 /gene="APBB1" /gene_synonym="FE65; MGC:9072; RIR" /inference="alignment:Splign:1.39.8" CDS 586..1941 /gene="APBB1" /gene_synonym="FE65; MGC:9072; RIR" /note="isoform d is encoded by transcript variant 5; stat-like protein; adaptor protein FE65a2" /codon_start=1 /product="amyloid beta A4 precursor protein-binding family B member 1 isoform d" /protein_id="NP_001244255.1" /db_xref="GI:381388777" /db_xref="GeneID:322" /db_xref="HGNC:581" /db_xref="MIM:602709" /translation="
MRVQDTSGTYYWHIPTGTTQWEPPGRASPSQGSSPQEESQLTWTGFAHGEGFEDGEFWKDEPSDEAPMELGLKEPEEGTLTFPAQSLSPEPLPQEEEKLPPRNTNPGIKCFAVRSLGWVEMTEEELAPGRSSVAVNNCIRQLSYHKNNLHDPMSGGWGEGKDLLLQLEDETLKLVEPQSQALLHAQPIISIRVWGVGRDSGRERDFAYVARDKLTQMLKCHVFRCEAPAKNIATSLHEICSKIMAERRNARCLVNGLSLDHSKLVDVPFQVEFPAPKNELVQKFQVYYLGNVPVAKPVGVDVINGALESVLSSSSREQWTPSHVSVAPATLTILHQQTEAVLGECRVRFLSFLAVGRDVHTFAFIMAAGPASFCCHMFWCEPNAASLSEAVQAACMLRYQKCLDARSQASTSCLPAPPAESVARRVGWTVRRGVQSLWGSLKPKRLGAHTP
" misc_feature 589..657 /gene="APBB1" /gene_synonym="FE65; MGC:9072; RIR" /note="WW domain; Region: WW; pfam00397" /db_xref="CDD:201206" misc_feature 910..1329 /gene="APBB1" /gene_synonym="FE65; MGC:9072; RIR" /note="Pleckstrin homology-like domain; Region: PH-like; cl00273" /db_xref="CDD:206947" misc_feature order(910..933,1066..1086,1093..1113,1159..1173, 1198..1212,1243..1257,1276..1302) /gene="APBB1" /gene_synonym="FE65; MGC:9072; RIR" /note="PH-like core; other site" /db_xref="CDD:176275" misc_feature 1426..1794 /gene="APBB1" /gene_synonym="FE65; MGC:9072; RIR" /note="Pleckstrin homology-like domain; Region: PH-like; cl00273" /db_xref="CDD:206947" misc_feature order(1429..1452,1543..1563,1570..1590,1636..1650, 1666..1680,1708..1722,1741..1767) /gene="APBB1" /gene_synonym="FE65; MGC:9072; RIR" /note="PH-like core; other site" /db_xref="CDD:176275" exon 706..762 /gene="APBB1" /gene_synonym="FE65; MGC:9072; RIR" /inference="alignment:Splign:1.39.8" exon 763..848 /gene="APBB1" /gene_synonym="FE65; MGC:9072; RIR" /inference="alignment:Splign:1.39.8" variation 787 /gene="APBB1" /gene_synonym="FE65; MGC:9072; RIR" /replace="a" /replace="g" /db_xref="dbSNP:1800423" exon 849..912 /gene="APBB1" /gene_synonym="FE65; MGC:9072; RIR" /inference="alignment:Splign:1.39.8" exon 913..1062 /gene="APBB1" /gene_synonym="FE65; MGC:9072; RIR" /inference="alignment:Splign:1.39.8" STS 935..1210 /gene="APBB1" /gene_synonym="FE65; MGC:9072; RIR" /standard_name="RH125131" /db_xref="UniSTS:161953" variation 961 /gene="APBB1" /gene_synonym="FE65; MGC:9072; RIR" /replace="c" /replace="t" /db_xref="dbSNP:1800424" variation 995 /gene="APBB1" /gene_synonym="FE65; MGC:9072; RIR" /replace="a" /replace="g" /db_xref="dbSNP:1800425" exon 1063..1190 /gene="APBB1" /gene_synonym="FE65; MGC:9072; RIR" /inference="alignment:Splign:1.39.8" exon 1191..1196 /gene="APBB1" /gene_synonym="FE65; MGC:9072; RIR" /inference="alignment:Splign:1.39.8" exon 1197..1311 /gene="APBB1" /gene_synonym="FE65; MGC:9072; RIR" /inference="alignment:Splign:1.39.8" variation 1281 /gene="APBB1" /gene_synonym="FE65; MGC:9072; RIR" /replace="c" /replace="t" /db_xref="dbSNP:1800426" exon 1312..1396 /gene="APBB1" /gene_synonym="FE65; MGC:9072; RIR" /inference="alignment:Splign:1.39.8" variation 1320 /gene="APBB1" /gene_synonym="FE65; MGC:9072; RIR" /replace="c" /replace="t" /db_xref="dbSNP:34466697" exon 1397..1480 /gene="APBB1" /gene_synonym="FE65; MGC:9072; RIR" /inference="alignment:Splign:1.39.8" exon 1481..1596 /gene="APBB1" /gene_synonym="FE65; MGC:9072; RIR" /inference="alignment:Splign:1.39.8" exon 1597..1773 /gene="APBB1" /gene_synonym="FE65; MGC:9072; RIR" /inference="alignment:Splign:1.39.8" variation 1755 /gene="APBB1" /gene_synonym="FE65; MGC:9072; RIR" /replace="c" /replace="t" /db_xref="dbSNP:1803903" exon 1774..2350 /gene="APBB1" /gene_synonym="FE65; MGC:9072; RIR" /inference="alignment:Splign:1.39.8" variation 1968 /gene="APBB1" /gene_synonym="FE65; MGC:9072; RIR" /replace="a" /replace="c" /db_xref="dbSNP:1042983" variation 2067 /gene="APBB1" /gene_synonym="FE65; MGC:9072; RIR" /replace="c" /replace="g" /db_xref="dbSNP:1042996" STS 2113..2325 /gene="APBB1" /gene_synonym="FE65; MGC:9072; RIR" /standard_name="A002D29" /db_xref="UniSTS:17869" polyA_signal 2330..2335 /gene="APBB1" /gene_synonym="FE65; MGC:9072; RIR" polyA_site 2350 /gene="APBB1" /gene_synonym="FE65; MGC:9072; RIR" ORIGIN
atttggaagctgaggatggtgaagcaccctgcctgaataactctcgtcaggtgtgcagccaccttggcgtaaccacgcccactcccagccctgctgtgtctggttgcccagcagcagggtcttgggactgcctgtcccttagtactgcctcttggaccagtcaggattcctggtttccctggtaacgggaagcacgtcagcagtctgggcgctcccagccggtcctggtgctgcggttgccgaggagacgctgcagcctagctgggccctggcaggtgaggggtggggggtggtgctgggaagccccaagcccagcctcaagcttgctggggctcaggacctcaaagcccacccttgggttcaaactgctgtgcaggtcctggacaggggcgggatccctgaaggccttgaaaccacaccctatttatgctgacagctataggctctgcagggccccaggcagctggggtattccttaggggctgagtctcctggtatccctaagactgggcttggcttaggcactgagattccttctggaaccccaacgccttcgagacggattccgacctgccggctggatggatgagggtccaggacacctcagggacctattactggcacatcccaacagggaccacccagtgggaaccccccggccgggcctccccctcacaggggagcagcccccaagaggagtcccagctcacctggacaggttttgctcatggagaaggctttgaggatggagaattttggaaggatgaacccagtgatgaggccccaatggagctgggactgaaggaacctgaggaggggacgttgaccttcccagctcagagcctcagcccagagccgttgccccaagaggaggagaagcttcccccacggaataccaacccagggatcaagtgtttcgccgtgcgctccctaggctgggtagagatgaccgaggaggagctggcccctggacgcagcagtgtggcagtcaacaattgcatccgtcagctctcttaccacaaaaacaacctgcatgaccccatgtctgggggctggggggaaggaaaggatctgctactgcagctggaggatgagacactaaagctagtggagccacagagccaggcactgctgcacgcccaacccatcatcagcatccgcgtgtggggcgtcgggcgggacagtggaagagagagggactttgcctacgtagctcgtgataagctgacccagatgctcaagtgccacgtgtttcgctgtgaggcacctgccaagaacatcgccaccagcctgcatgagatctgctctaagatcatggccgaacggcgtaatgcccgctgcttggtaaatggactctccctggaccactctaaacttgtggatgtccctttccaagtggaattcccagcgcctaagaatgagttggtccagaagttccaagtctattacctggggaatgtacctgttgctaaacctgttggggtagatgtgattaatggggccctcgagtcagtcctgtcctccagcagccgtgaacaatggaccccaagtcatgtcagtgtggcccctgctaccctcaccatcttgcaccagcagacagaggcagtgctgggagagtgtcgggtgcgtttcctctccttcctggccgtgggcagagatgtccacacgtttgcattcatcatggctgccggcccagcctccttctgctgccacatgttctggtgcgagcccaatgctgccagcctctcagaggctgtgcaggctgcgtgcatgcttcgctaccagaagtgtctggatgcccgttcccaggcctccacctcctgcctcccagcaccccctgctgagtctgtggcacggcgtgtagggtggactgtccgcaggggtgttcagtcgctgtggggctccctgaagcccaaacggctgggggcccataccccatgaagaagcccccaccttccctccacctgcttgtgttgggccccagggaactaaagggtgtgggtcagggaggggtctagaggctattcctaggcctcaggcctcccaaatatgcccctccccagtagctacggttccctgcctaggagctggggagggagagatctaatcccttcaaggaagtgataacactggagtggtaacaagaggagcaggaagcaaggccagccctggttctccatccccatgtgtttcaggtggaacaggaggaactggtccaggccaggcctcatcctcctggacccagcaggggcagaaggaggaagggactggtccaggcatgggtcccttccccctgctccatgggcacctctgctgtattgatatcactaataaagtctgtctgcactgcaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:322 -> Molecular function: GO:0001540 [beta-amyloid binding] evidence: IPI GeneID:322 -> Molecular function: GO:0001540 [beta-amyloid binding] evidence: NAS GeneID:322 -> Molecular function: GO:0003682 [chromatin binding] evidence: IDA GeneID:322 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:322 -> Molecular function: GO:0008134 [transcription factor binding] evidence: ISS GeneID:322 -> Molecular function: GO:0042393 [histone binding] evidence: IPI GeneID:322 -> Molecular function: GO:0070064 [proline-rich region binding] evidence: IPI GeneID:322 -> Biological process: GO:0001764 [neuron migration] evidence: IEA GeneID:322 -> Biological process: GO:0006302 [double-strand break repair] evidence: IEA GeneID:322 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA GeneID:322 -> Biological process: GO:0006355 [regulation of transcription, DNA-dependent] evidence: ISS GeneID:322 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA GeneID:322 -> Biological process: GO:0006974 [response to DNA damage stimulus] evidence: IDA GeneID:322 -> Biological process: GO:0007050 [cell cycle arrest] evidence: ISS GeneID:322 -> Biological process: GO:0007165 [signal transduction] evidence: NAS GeneID:322 -> Biological process: GO:0007409 [axonogenesis] evidence: NAS GeneID:322 -> Biological process: GO:0007411 [axon guidance] evidence: IEA GeneID:322 -> Biological process: GO:0008542 [visual learning] evidence: IEA GeneID:322 -> Biological process: GO:0030198 [extracellular matrix organization] evidence: IEA GeneID:322 -> Biological process: GO:0030308 [negative regulation of cell growth] evidence: ISS GeneID:322 -> Biological process: GO:0043065 [positive regulation of apoptotic process] evidence: IDA GeneID:322 -> Biological process: GO:0043967 [histone H4 acetylation] evidence: ISS GeneID:322 -> Biological process: GO:0045665 [negative regulation of neuron differentiation] evidence: IEA GeneID:322 -> Biological process: GO:0045739 [positive regulation of DNA repair] evidence: IEA GeneID:322 -> Biological process: GO:0045893 [positive regulation of transcription, DNA-dependent] evidence: IDA GeneID:322 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: IEA GeneID:322 -> Biological process: GO:0050760 [negative regulation of thymidylate synthase biosynthetic process] evidence: ISS GeneID:322 -> Cellular component: GO:0005634 [nucleus] evidence: IDA GeneID:322 -> Cellular component: GO:0005634 [nucleus] evidence: ISS GeneID:322 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA GeneID:322 -> Cellular component: GO:0005886 [plasma membrane] evidence: IDA GeneID:322 -> Cellular component: GO:0016607 [nuclear speck] evidence: IEA GeneID:322 -> Cellular component: GO:0030027 [lamellipodium] evidence: IDA GeneID:322 -> Cellular component: GO:0030426 [growth cone] evidence: IDA GeneID:322 -> Cellular component: GO:0045202 [synapse] evidence: IDA
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