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2024-04-19 16:00:01, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_145689 2634 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens amyloid beta (A4) precursor protein-binding, family B,
member 1 (Fe65) (APBB1), transcript variant 2, mRNA.
ACCESSION NM_145689
VERSION NM_145689.1 GI:22035553
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 2634)
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 2634)
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 2634)
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 2634)
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 2634)
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 2634)
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 2634)
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 2634)
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 2634)
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 2634)
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 BC010854.2.
This sequence is a reference standard in the RefSeqGene project.
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 (2) differs in the 5' UTR and the
coding region compared to variant 1. This results in a protein that
maintains the reading frame but is a shorter isoform (b, also known
as delta E9), compared to isoform a. This encoded isoform (b) is
widely expressed in all non-neuronal cells, but is not expressed in
differentiated neurons.
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 :: BC010854.2 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025081, ERS025082 [ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
FEATURES Location/Qualifiers
source 1..2634
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="11"
/map="11p15"
gene 1..2634
/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="HPRD:04087"
/db_xref="MIM:602709"
exon 1..69
/gene="APBB1"
/gene_synonym="FE65; MGC:9072; RIR"
/inference="alignment:Splign:1.39.8"
misc_feature 1..68
/gene="APBB1"
/gene_synonym="FE65; MGC:9072; RIR"
/note="Region: alternate region"
exon 70..804
/gene="APBB1"
/gene_synonym="FE65; MGC:9072; RIR"
/inference="alignment:Splign:1.39.8"
CDS 84..2210
/gene="APBB1"
/gene_synonym="FE65; MGC:9072; RIR"
/note="isoform b is encoded by transcript variant 2;
stat-like protein; adaptor protein FE65a2"
/codon_start=1
/product="amyloid beta A4 precursor protein-binding family
B member 1 isoform b"
/protein_id="NP_663722.1"
/db_xref="GI:22035554"
/db_xref="CCDS:CCDS31410.1"
/db_xref="GeneID:322"
/db_xref="HGNC:581"
/db_xref="HPRD:04087"
/db_xref="MIM:602709"
/translation="
MSVPSSLSQSAINANSHGGPALSLPLPLHAAHNQLLNAKLQATAVGPKDLRSAMGEGGGPEPGPANAKWLKEGQNQLRRAATAHRDQNRNVTLTLAEEASQEPEMAPLGPKGLIHLYSELELSAHNAANRGLRGPGLIISTQEQGPDEGEEKAAGEAEEEEEDDDDEEEEEDLSSPPGLPEPLESVEAPPRPQALTDGPREHSKSASLLFGMRNSAASDEDSSWATLSQGSPSYGSPEDTDSFWNPNAFETDSDLPAGWMRVQDTSGTYYWHIPTGTTQWEPPGRASPSQGSSPQEESQLTWTGFAHGEGFEDGEFWKDEPSDEAPMELGLKEPEEGTLTFPAQSLSPEPLPQEEEKLPPRNTNPGIKCFAVRSLGWVEMTEEELAPGRSSVAVNNCIRQLSYHKNNLHDPMSGGWGEGKDLLLQLEDETLKLVEPQSQALLHAQPIISIRVWGVGRDSGRDFAYVARDKLTQMLKCHVFRCEAPAKNIATSLHEICSKIMAERRNARCLVNGLSLDHSKLVDVPFQVEFPAPKNELVQKFQVYYLGNVPVAKPVGVDVINGALESVLSSSSREQWTPSHVSVAPATLTILHQQTEAVLGECRVRFLSFLAVGRDVHTFAFIMAAGPASFCCHMFWCEPNAASLSEAVQAACMLRYQKCLDARSQASTSCLPAPPAESVARRVGWTVRRGVQSLWGSLKPKRLGAHTP
"
misc_feature 849..932
/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(888..890,921..923)
/gene="APBB1"
/gene_synonym="FE65; MGC:9072; RIR"
/note="binding pocket"
/db_xref="CDD:29258"
misc_feature 1185..1598
/gene="APBB1"
/gene_synonym="FE65; MGC:9072; RIR"
/note="Pleckstrin homology-like domain; Region: PH-like;
cl00273"
/db_xref="CDD:206947"
misc_feature order(1185..1208,1341..1361,1368..1388,1434..1448,
1467..1481,1512..1526,1545..1571)
/gene="APBB1"
/gene_synonym="FE65; MGC:9072; RIR"
/note="PH-like core; other site"
/db_xref="CDD:176275"
misc_feature 1695..2063
/gene="APBB1"
/gene_synonym="FE65; MGC:9072; RIR"
/note="Pleckstrin homology-like domain; Region: PH-like;
cl00273"
/db_xref="CDD:206947"
misc_feature order(1698..1721,1812..1832,1839..1859,1905..1919,
1935..1949,1977..1991,2010..2036)
/gene="APBB1"
/gene_synonym="FE65; MGC:9072; RIR"
/note="PH-like core; other site"
/db_xref="CDD:176275"
misc_feature 1716..1718
/gene="APBB1"
/gene_synonym="FE65; MGC:9072; RIR"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphotyrosine, by ABL1; propagated from
UniProtKB/Swiss-Prot (O00213.2); phosphorylation site"
exon 805..980
/gene="APBB1"
/gene_synonym="FE65; MGC:9072; RIR"
/inference="alignment:Splign:1.39.8"
exon 981..1037
/gene="APBB1"
/gene_synonym="FE65; MGC:9072; RIR"
/inference="alignment:Splign:1.39.8"
exon 1038..1123
/gene="APBB1"
/gene_synonym="FE65; MGC:9072; RIR"
/inference="alignment:Splign:1.39.8"
variation 1062
/gene="APBB1"
/gene_synonym="FE65; MGC:9072; RIR"
/replace="a"
/replace="g"
/db_xref="dbSNP:1800423"
exon 1124..1187
/gene="APBB1"
/gene_synonym="FE65; MGC:9072; RIR"
/inference="alignment:Splign:1.39.8"
exon 1188..1337
/gene="APBB1"
/gene_synonym="FE65; MGC:9072; RIR"
/inference="alignment:Splign:1.39.8"
STS 1210..1479
/gene="APBB1"
/gene_synonym="FE65; MGC:9072; RIR"
/standard_name="RH125131"
/db_xref="UniSTS:161953"
variation 1236
/gene="APBB1"
/gene_synonym="FE65; MGC:9072; RIR"
/replace="c"
/replace="t"
/db_xref="dbSNP:1800424"
variation 1270
/gene="APBB1"
/gene_synonym="FE65; MGC:9072; RIR"
/replace="a"
/replace="g"
/db_xref="dbSNP:1800425"
exon 1338..1465
/gene="APBB1"
/gene_synonym="FE65; MGC:9072; RIR"
/inference="alignment:Splign:1.39.8"
exon 1466..1580
/gene="APBB1"
/gene_synonym="FE65; MGC:9072; RIR"
/inference="alignment:Splign:1.39.8"
variation 1550
/gene="APBB1"
/gene_synonym="FE65; MGC:9072; RIR"
/replace="c"
/replace="t"
/db_xref="dbSNP:1800426"
exon 1581..1665
/gene="APBB1"
/gene_synonym="FE65; MGC:9072; RIR"
/inference="alignment:Splign:1.39.8"
variation 1589
/gene="APBB1"
/gene_synonym="FE65; MGC:9072; RIR"
/replace="c"
/replace="t"
/db_xref="dbSNP:34466697"
exon 1666..1749
/gene="APBB1"
/gene_synonym="FE65; MGC:9072; RIR"
/inference="alignment:Splign:1.39.8"
exon 1750..1865
/gene="APBB1"
/gene_synonym="FE65; MGC:9072; RIR"
/inference="alignment:Splign:1.39.8"
exon 1866..2042
/gene="APBB1"
/gene_synonym="FE65; MGC:9072; RIR"
/inference="alignment:Splign:1.39.8"
variation 2024
/gene="APBB1"
/gene_synonym="FE65; MGC:9072; RIR"
/replace="c"
/replace="t"
/db_xref="dbSNP:1803903"
exon 2043..2619
/gene="APBB1"
/gene_synonym="FE65; MGC:9072; RIR"
/inference="alignment:Splign:1.39.8"
variation 2237
/gene="APBB1"
/gene_synonym="FE65; MGC:9072; RIR"
/replace="a"
/replace="c"
/db_xref="dbSNP:1042983"
variation 2336
/gene="APBB1"
/gene_synonym="FE65; MGC:9072; RIR"
/replace="c"
/replace="g"
/db_xref="dbSNP:1042996"
STS 2382..2594
/gene="APBB1"
/gene_synonym="FE65; MGC:9072; RIR"
/standard_name="A002D29"
/db_xref="UniSTS:17869"
polyA_signal 2599..2604
/gene="APBB1"
/gene_synonym="FE65; MGC:9072; RIR"
polyA_site 2619
/gene="APBB1"
/gene_synonym="FE65; MGC:9072; RIR"
/experiment="experimental evidence, no additional details
recorded"
ORIGIN
tcgggctccagccccgtccgcgcgtctcccggcgtgggtgcgggaccagggcgctgcggggcgcgcagggagctgccaaggccatgtctgttccatcatcactgagccagtcggccattaatgccaacagccacggaggccccgcactgagcctacccctgcctctgcacgctgcccacaaccagctgctcaacgccaagctgcaggccacagctgtgggacccaaggacctgcgcagcgccatgggggagggtggtgggcctgagccaggccctgccaatgccaagtggctaaaagagggccagaaccagctccggcgggccgccacggcccaccgtgaccagaatcgcaatgtgaccttgaccttggcggaggaggccagccaggagcctgagatggcacccttgggccccaaaggcctgatacacctgtactctgagctggagctctcagctcacaacgcagccaaccgaggcctacgaggacctggcctgatcatcagcactcaagagcaggggccagatgagggagaggagaaggcggccggggaggccgaggaggaggaggaggatgatgatgatgaagaggaggaggaggacttatcttctcccccagggctgcctgagcccctggagagtgtggaggcccctcccaggccccaagcccttacagatggcccccgggaacacagcaagagtgccagcctcctgtttggcatgcggaacagtgcagccagtgatgaggactcaagctgggctaccttatcccagggcagcccctcctatggctccccagaggacacagattccttctggaaccccaacgccttcgagacggattccgacctgccggctggatggatgagggtccaggacacctcagggacctattactggcacatcccaacagggaccacccagtgggaaccccccggccgggcctccccctcacaggggagcagcccccaagaggagtcccagctcacctggacaggttttgctcatggagaaggctttgaggatggagaattttggaaggatgaacccagtgatgaggccccaatggagctgggactgaaggaacctgaggaggggacgttgaccttcccagctcagagcctcagcccagagccgttgccccaagaggaggagaagcttcccccacggaataccaacccagggatcaagtgtttcgccgtgcgctccctaggctgggtagagatgaccgaggaggagctggcccctggacgcagcagtgtggcagtcaacaattgcatccgtcagctctcttaccacaaaaacaacctgcatgaccccatgtctgggggctggggggaaggaaaggatctgctactgcagctggaggatgagacactaaagctagtggagccacagagccaggcactgctgcacgcccaacccatcatcagcatccgcgtgtggggcgtcgggcgggacagtggaagggactttgcctacgtagctcgtgataagctgacccagatgctcaagtgccacgtgtttcgctgtgaggcacctgccaagaacatcgccaccagcctgcatgagatctgctctaagatcatggccgaacggcgtaatgcccgctgcttggtaaatggactctccctggaccactctaaacttgtggatgtccctttccaagtggaattcccagcgcctaagaatgagttggtccagaagttccaagtctattacctggggaatgtacctgttgctaaacctgttggggtagatgtgattaatggggccctcgagtcagtcctgtcctccagcagccgtgaacaatggaccccaagtcatgtcagtgtggcccctgctaccctcaccatcttgcaccagcagacagaggcagtgctgggagagtgtcgggtgcgtttcctctccttcctggccgtgggcagagatgtccacacgtttgcattcatcatggctgccggcccagcctccttctgctgccacatgttctggtgcgagcccaatgctgccagcctctcagaggctgtgcaggctgcgtgcatgcttcgctaccagaagtgtctggatgcccgttcccaggcctccacctcctgcctcccagcaccccctgctgagtctgtggcacggcgtgtagggtggactgtccgcaggggtgttcagtcgctgtggggctccctgaagcccaaacggctgggggcccataccccatgaagaagcccccaccttccctccacctgcttgtgttgggccccagggaactaaagggtgtgggtcagggaggggtctagaggctattcctaggcctcaggcctcccaaatatgcccctccccagtagctacggttccctgcctaggagctggggagggagagatctaatcccttcaaggaagtgataacactggagtggtaacaagaggagcaggaagcaaggccagccctggttctccatccccatgtgtttcaggtggaacaggaggaactggtccaggccaggcctcatcctcctggacccagcaggggcagaaggaggaagggactggtccaggcatgggtcccttccccctgctccatgggcacctctgctgtattgatatcactaataaagtctgtctgcactgcaaaaaaaaaaaaaaa
//
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
by
@meso_cacase at
DBCLS
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