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2024-03-29 17:13:48, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001257323            2019 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens amyloid beta (A4) precursor protein-binding, family B,
            member 1 (Fe65) (APBB1), transcript variant 8, mRNA.
ACCESSION   NM_001257323
VERSION     NM_001257323.1  GI:381388770
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 2019)
  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 2019)
  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 2019)
  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 2019)
  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 2019)
  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 2019)
  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 2019)
  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 2019)
  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 2019)
  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 2019)
  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 DC316489.1, AK295241.1 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 (8) has an alternate 5' exon in
            place of the first two exons and lacks an alternate in-frame exon
            compared to variant 1. The resulting isoform (f) has a shorter and
            distinct N-terminus and lacks a 2 aa internal segment 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 :: AK295241.1 [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
            1-35                DC316489.1         1-35
            36-1063             AK295241.1         1-1028
            1064-2019           BC010854.2         1691-2646
FEATURES             Location/Qualifiers
     source          1..2019
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15"
     gene            1..2019
                     /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..189
                     /gene="APBB1"
                     /gene_synonym="FE65; MGC:9072; RIR"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    33..35
                     /gene="APBB1"
                     /gene_synonym="FE65; MGC:9072; RIR"
                     /note="upstream in-frame stop codon"
     CDS             129..1595
                     /gene="APBB1"
                     /gene_synonym="FE65; MGC:9072; RIR"
                     /note="isoform f is encoded by transcript variant 8;
                     stat-like protein; adaptor protein FE65a2"
                     /codon_start=1
                     /product="amyloid beta A4 precursor protein-binding family
                     B member 1 isoform f"
                     /protein_id="NP_001244252.1"
                     /db_xref="GI:381388771"
                     /db_xref="CCDS:CCDS58114.1"
                     /db_xref="GeneID:322"
                     /db_xref="HGNC:581"
                     /db_xref="MIM:602709"
                     /translation="
MSAMFSQDFFLAIILQDSSADSFWNPNAFETDSDLPAGWMRVQDTSGTYYWHIPTGTTQWEPPGRASPSQGSSPQEESQLTWTGFAHGEGFEDGEFWKDEPSDEAPMELGLKEPEEGTLTFPAQSLSPEPLPQEEEKLPPRNTNPGIKCFAVRSLGWVEMTEEELAPGRSSVAVNNCIRQLSYHKNNLHDPMSGGWGEGKDLLLQLEDETLKLVEPQSQALLHAQPIISIRVWGVGRDSGRDFAYVARDKLTQMLKCHVFRCEAPAKNIATSLHEICSKIMAERRNARCLVNGLSLDHSKLVDVPFQVEFPAPKNELVQKFQVYYLGNVPVAKPVGVDVINGALESVLSSSSREQWTPSHVSVAPATLTILHQQTEAVLGECRVRFLSFLAVGRDVHTFAFIMAAGPASFCCHMFWCEPNAASLSEAVQAACMLRYQKCLDARSQASTSCLPAPPAESVARRVGWTVRRGVQSLWGSLKPKRLGAHTP
"
     misc_feature    234..317
                     /gene="APBB1"
                     /gene_synonym="FE65; MGC:9072; RIR"
                     /note="Two conserved tryptophans domain; also known as the
                     WWP or rsp5 domain; around 40 amino acids; functions as an
                     interaction module in a diverse set of signalling
                     proteins; binds specific proline-rich sequences but at low
                     affinities compared to other...; Region: WW; cd00201"
                     /db_xref="CDD:29258"
     misc_feature    order(273..275,306..308)
                     /gene="APBB1"
                     /gene_synonym="FE65; MGC:9072; RIR"
                     /note="binding pocket"
                     /db_xref="CDD:29258"
     misc_feature    570..983
                     /gene="APBB1"
                     /gene_synonym="FE65; MGC:9072; RIR"
                     /note="Pleckstrin homology-like domain; Region: PH-like;
                     cl00273"
                     /db_xref="CDD:206947"
     misc_feature    order(570..593,726..746,753..773,819..833,852..866,
                     897..911,930..956)
                     /gene="APBB1"
                     /gene_synonym="FE65; MGC:9072; RIR"
                     /note="PH-like core; other site"
                     /db_xref="CDD:176275"
     misc_feature    1080..1448
                     /gene="APBB1"
                     /gene_synonym="FE65; MGC:9072; RIR"
                     /note="Pleckstrin homology-like domain; Region: PH-like;
                     cl00273"
                     /db_xref="CDD:206947"
     misc_feature    order(1083..1106,1197..1217,1224..1244,1290..1304,
                     1320..1334,1362..1376,1395..1421)
                     /gene="APBB1"
                     /gene_synonym="FE65; MGC:9072; RIR"
                     /note="PH-like core; other site"
                     /db_xref="CDD:176275"
     exon            190..365
                     /gene="APBB1"
                     /gene_synonym="FE65; MGC:9072; RIR"
                     /inference="alignment:Splign:1.39.8"
     exon            366..422
                     /gene="APBB1"
                     /gene_synonym="FE65; MGC:9072; RIR"
                     /inference="alignment:Splign:1.39.8"
     exon            423..508
                     /gene="APBB1"
                     /gene_synonym="FE65; MGC:9072; RIR"
                     /inference="alignment:Splign:1.39.8"
     variation       447
                     /gene="APBB1"
                     /gene_synonym="FE65; MGC:9072; RIR"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1800423"
     exon            509..572
                     /gene="APBB1"
                     /gene_synonym="FE65; MGC:9072; RIR"
                     /inference="alignment:Splign:1.39.8"
     exon            573..722
                     /gene="APBB1"
                     /gene_synonym="FE65; MGC:9072; RIR"
                     /inference="alignment:Splign:1.39.8"
     STS             595..864
                     /gene="APBB1"
                     /gene_synonym="FE65; MGC:9072; RIR"
                     /standard_name="RH125131"
                     /db_xref="UniSTS:161953"
     variation       621
                     /gene="APBB1"
                     /gene_synonym="FE65; MGC:9072; RIR"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1800424"
     variation       655
                     /gene="APBB1"
                     /gene_synonym="FE65; MGC:9072; RIR"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1800425"
     exon            723..850
                     /gene="APBB1"
                     /gene_synonym="FE65; MGC:9072; RIR"
                     /inference="alignment:Splign:1.39.8"
     exon            851..965
                     /gene="APBB1"
                     /gene_synonym="FE65; MGC:9072; RIR"
                     /inference="alignment:Splign:1.39.8"
     variation       935
                     /gene="APBB1"
                     /gene_synonym="FE65; MGC:9072; RIR"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1800426"
     exon            966..1050
                     /gene="APBB1"
                     /gene_synonym="FE65; MGC:9072; RIR"
                     /inference="alignment:Splign:1.39.8"
     variation       974
                     /gene="APBB1"
                     /gene_synonym="FE65; MGC:9072; RIR"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:34466697"
     exon            1051..1134
                     /gene="APBB1"
                     /gene_synonym="FE65; MGC:9072; RIR"
                     /inference="alignment:Splign:1.39.8"
     exon            1135..1250
                     /gene="APBB1"
                     /gene_synonym="FE65; MGC:9072; RIR"
                     /inference="alignment:Splign:1.39.8"
     exon            1251..1427
                     /gene="APBB1"
                     /gene_synonym="FE65; MGC:9072; RIR"
                     /inference="alignment:Splign:1.39.8"
     variation       1409
                     /gene="APBB1"
                     /gene_synonym="FE65; MGC:9072; RIR"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1803903"
     exon            1428..2004
                     /gene="APBB1"
                     /gene_synonym="FE65; MGC:9072; RIR"
                     /inference="alignment:Splign:1.39.8"
     variation       1622
                     /gene="APBB1"
                     /gene_synonym="FE65; MGC:9072; RIR"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:1042983"
     variation       1721
                     /gene="APBB1"
                     /gene_synonym="FE65; MGC:9072; RIR"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:1042996"
     STS             1767..1979
                     /gene="APBB1"
                     /gene_synonym="FE65; MGC:9072; RIR"
                     /standard_name="A002D29"
                     /db_xref="UniSTS:17869"
     polyA_signal    1984..1989
                     /gene="APBB1"
                     /gene_synonym="FE65; MGC:9072; RIR"
     polyA_site      2004
                     /gene="APBB1"
                     /gene_synonym="FE65; MGC:9072; RIR"
ORIGIN      
agacgctctgccctggtgagaagggggcgggatgagcttttctctgcagcccagcaccaggctgtgagcccagctggctgggctggaggggctgtgaggagggagggtggaggcaggaggggccgggaatgagcgccatgttctcccaggactttttcctggccattatcctgcaggacagcagcgcagattccttctggaaccccaacgccttcgagacggattccgacctgccggctggatggatgagggtccaggacacctcagggacctattactggcacatcccaacagggaccacccagtgggaaccccccggccgggcctccccctcacaggggagcagcccccaagaggagtcccagctcacctggacaggttttgctcatggagaaggctttgaggatggagaattttggaaggatgaacccagtgatgaggccccaatggagctgggactgaaggaacctgaggaggggacgttgaccttcccagctcagagcctcagcccagagccgttgccccaagaggaggagaagcttcccccacggaataccaacccagggatcaagtgtttcgccgtgcgctccctaggctgggtagagatgaccgaggaggagctggcccctggacgcagcagtgtggcagtcaacaattgcatccgtcagctctcttaccacaaaaacaacctgcatgaccccatgtctgggggctggggggaaggaaaggatctgctactgcagctggaggatgagacactaaagctagtggagccacagagccaggcactgctgcacgcccaacccatcatcagcatccgcgtgtggggcgtcgggcgggacagtggaagggactttgcctacgtagctcgtgataagctgacccagatgctcaagtgccacgtgtttcgctgtgaggcacctgccaagaacatcgccaccagcctgcatgagatctgctctaagatcatggccgaacggcgtaatgcccgctgcttggtaaatggactctccctggaccactctaaacttgtggatgtccctttccaagtggaattcccagcgcctaagaatgagttggtccagaagttccaagtctattacctggggaatgtacctgttgctaaacctgttggggtagatgtgattaatggggccctcgagtcagtcctgtcctccagcagccgtgaacaatggaccccaagtcatgtcagtgtggcccctgctaccctcaccatcttgcaccagcagacagaggcagtgctgggagagtgtcgggtgcgtttcctctccttcctggccgtgggcagagatgtccacacgtttgcattcatcatggctgccggcccagcctccttctgctgccacatgttctggtgcgagcccaatgctgccagcctctcagaggctgtgcaggctgcgtgcatgcttcgctaccagaagtgtctggatgcccgttcccaggcctccacctcctgcctcccagcaccccctgctgagtctgtggcacggcgtgtagggtggactgtccgcaggggtgttcagtcgctgtggggctccctgaagcccaaacggctgggggcccataccccatgaagaagcccccaccttccctccacctgcttgtgttgggccccagggaactaaagggtgtgggtcagggaggggtctagaggctattcctaggcctcaggcctcccaaatatgcccctccccagtagctacggttccctgcctaggagctggggagggagagatctaatcccttcaaggaagtgataacactggagtggtaacaagaggagcaggaagcaaggccagccctggttctccatccccatgtgtttcaggtggaacaggaggaactggtccaggccaggcctcatcctcctggacccagcaggggcagaaggaggaagggactggtccaggcatgggtcccttccccctgctccatgggcacctctgctgtattgatatcactaataaagtctgtctgcactgcaaaaaaaaaaaaaaa
//

Annotations:

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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