2025-05-09 18:35:44, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001253915 2540 bp mRNA linear PRI 14-JUL-2013 DEFINITION Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 5, mRNA. ACCESSION NM_001253915 VERSION NM_001253915.1 GI:359807058 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 2540) AUTHORS Yamazaki,K., Umeno,J., Takahashi,A., Hirano,A., Johnson,T.A., Kumasaka,N., Morizono,T., Hosono,N., Kawaguchi,T., Takazoe,M., Yamada,T., Suzuki,Y., Tanaka,H., Motoya,S., Hosokawa,M., Arimura,Y., Shinomura,Y., Matsui,T., Matsumoto,T., Iida,M., Tsunoda,T., Nakamura,Y., Kamatani,N. and Kubo,M. TITLE A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population JOURNAL Gastroenterology 144 (4), 781-788 (2013) PUBMED 23266558 REFERENCE 2 (bases 1 to 2540) AUTHORS Pehmoller,C., Brandt,N., Birk,J.B., Hoeg,L.D., Sjoberg,K.A., Goodyear,L.J., Kiens,B., Richter,E.A. and Wojtaszewski,J.F. TITLE Exercise alleviates lipid-induced insulin resistance in human skeletal muscle-signaling interaction at the level of TBC1 domain family member 4 JOURNAL Diabetes 61 (11), 2743-2752 (2012) PUBMED 22851577 REMARK GeneRIF: Data suggest that insulin increases phosphorylation of signaling nexus TBC1D1 independent of prior exercise or lipid/Intralipid administration. REFERENCE 3 (bases 1 to 2540) AUTHORS Divaris,K., Monda,K.L., North,K.E., Olshan,A.F., Lange,E.M., Moss,K., Barros,S.P., Beck,J.D. and Offenbacher,S. TITLE Genome-wide association study of periodontal pathogen colonization JOURNAL J. Dent. Res. 91 (7 SUPPL), 21S-28S (2012) PUBMED 22699663 REFERENCE 4 (bases 1 to 2540) AUTHORS Jessen,N., An,D., Lihn,A.S., Nygren,J., Hirshman,M.F., Thorell,A. and Goodyear,L.J. TITLE Exercise increases TBC1D1 phosphorylation in human skeletal muscle JOURNAL Am. J. Physiol. Endocrinol. Metab. 301 (1), E164-E171 (2011) PUBMED 21505148 REMARK GeneRIF: A single bout of exercise regulates TBC1D1 and AS160 phosphorylation on multiple sites in human skeletal muscle. REFERENCE 5 (bases 1 to 2540) AUTHORS Park,S.Y., Jin,W., Woo,J.R. and Shoelson,S.E. TITLE Crystal structures of human TBC1D1 and TBC1D4 (AS160) RabGTPase-activating protein (RabGAP) domains reveal critical elements for GLUT4 translocation JOURNAL J. Biol. Chem. 286 (20), 18130-18138 (2011) PUBMED 21454505 REMARK GeneRIF: Crystal structures of human TBC1D1 and TBC1D4 (AS160) RabGTPase-activating protein (RabGAP) domains reveal critical elements for GLUT4 translocation. REFERENCE 6 (bases 1 to 2540) AUTHORS Chavez,J.A., Roach,W.G., Keller,S.R., Lane,W.S. and Lienhard,G.E. TITLE Inhibition of GLUT4 translocation by Tbc1d1, a Rab GTPase-activating protein abundant in skeletal muscle, is partially relieved by AMP-activated protein kinase activation JOURNAL J. Biol. Chem. 283 (14), 9187-9195 (2008) PUBMED 18258599 REFERENCE 7 (bases 1 to 2540) AUTHORS Roach,W.G., Chavez,J.A., Miinea,C.P. and Lienhard,G.E. TITLE Substrate specificity and effect on GLUT4 translocation of the Rab GTPase-activating protein Tbc1d1 JOURNAL Biochem. J. 403 (2), 353-358 (2007) PUBMED 17274760 REMARK GeneRIF: form of Tbc1d1 also inhibited GLUT4 translocation and that this effect also required a functional GAP domain REFERENCE 8 (bases 1 to 2540) AUTHORS Stone,S., Abkevich,V., Russell,D.L., Riley,R., Timms,K., Tran,T., Trem,D., Frank,D., Jammulapati,S., Neff,C.D., Iliev,D., Gress,R., He,G., Frech,G.C., Adams,T.D., Skolnick,M.H., Lanchbury,J.S., Gutin,A., Hunt,S.C. and Shattuck,D. TITLE TBC1D1 is a candidate for a severe obesity gene and evidence for a gene/gene interaction in obesity predisposition JOURNAL Hum. Mol. Genet. 15 (18), 2709-2720 (2006) PUBMED 16893906 REMARK GeneRIF: coding variant R125W affects obesity susceptibility, delimits the location of an obesity gene at 4q34-35 and identifies a gene/gene interaction that influences the risk for obesity predisposition REFERENCE 9 (bases 1 to 2540) AUTHORS Rush,J., Moritz,A., Lee,K.A., Guo,A., Goss,V.L., Spek,E.J., Zhang,H., Zha,X.M., Polakiewicz,R.D. and Comb,M.J. TITLE Immunoaffinity profiling of tyrosine phosphorylation in cancer cells JOURNAL Nat. Biotechnol. 23 (1), 94-101 (2005) PUBMED 15592455 REFERENCE 10 (bases 1 to 2540) AUTHORS White,R.A., Pasztor,L.M., Richardson,P.M. and Zon,L.I. TITLE The gene encoding TBC1D1 with homology to the tre-2/USP6 oncogene, BUB2, and cdc16 maps to mouse chromosome 5 and human chromosome 4 JOURNAL Cytogenet. Cell Genet. 89 (3-4), 272-275 (2000) PUBMED 10965142 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BC032337.1, CR996632.1 and AK074954.1. Summary: TBC1D1 is the founding member of a family of proteins sharing a 180- to 200-amino acid TBC domain presumed to have a role in regulating cell growth and differentiation. These proteins share significant homology with TRE2 (USP6; MIM 604334), yeast Bub2, and CDC16 (MIM 603461) (White et al., 2000 [PubMed 10965142]).[supplied by OMIM, Mar 2008]. Transcript Variant: This variant (5) differs in the 5' UTR, lacks a large portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (4) has a significantly shorter N-terminus, compared to isoform 1. 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 :: BC032337.1, BI763670.1 [ECO:0000332] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-537 BC032337.1 1-537 538-1152 CR996632.1 20-634 1153-2540 AK074954.1 1602-2989 FEATURES Location/Qualifiers source 1..2540 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="4" /map="4p14" gene 1..2540 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /note="TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1" /db_xref="GeneID:23216" /db_xref="HGNC:11578" /db_xref="MIM:609850" exon 1..155 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /inference="alignment:Splign:1.39.8" variation 17 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="a" /replace="g" /db_xref="dbSNP:183365538" variation 36 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="a" /replace="g" /db_xref="dbSNP:79205210" misc_feature 131..133 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /note="upstream in-frame stop codon" exon 156..325 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /inference="alignment:Splign:1.39.8" CDS 158..700 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /note="isoform 4 is encoded by transcript variant 5; TBC1 domain family member 1" /codon_start=1 /product="TBC1 domain family member 1 isoform 4" /protein_id="NP_001240844.1" /db_xref="GI:359807059" /db_xref="GeneID:23216" /db_xref="HGNC:11578" /db_xref="MIM:609850" /translation="
MIFLQGTEVIFKVALSLLGSHKPLILQHENLETIVDFIKSTLPNLGLVQMEKTINQVFEMDIAKQLQAYEVEYHVLQEELIDSSPLSDNQRMDKLEKTNSSLRKQNLDLLEQLQVANGRIQSLEATIEKLLSSESKLKQAMLTLELERSALLQTVEELRRRSAEPSDREPECTQPEPTGD
" variation 192 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="a" /replace="c" /db_xref="dbSNP:149746733" variation 228 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="c" /replace="t" /db_xref="dbSNP:191311030" variation 279 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="c" /replace="t" /db_xref="dbSNP:145666066" variation 280 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="a" /replace="g" /db_xref="dbSNP:374150933" exon 326..499 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /inference="alignment:Splign:1.39.8" variation 343 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="c" /replace="t" /db_xref="dbSNP:185429602" variation 402 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="a" /replace="g" /db_xref="dbSNP:141434035" variation 457 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="c" /replace="t" /db_xref="dbSNP:200211276" variation 463 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="a" /replace="g" /db_xref="dbSNP:145258995" variation 465 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="a" /replace="g" /db_xref="dbSNP:376683121" exon 500..2540 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /inference="alignment:Splign:1.39.8" variation 503 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="a" /replace="g" /db_xref="dbSNP:147610055" variation 510 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="a" /replace="g" /db_xref="dbSNP:199769631" variation 583 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="a" /replace="t" /db_xref="dbSNP:142082982" variation 600 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="a" /replace="g" /db_xref="dbSNP:13110318" variation 618 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="c" /replace="t" /db_xref="dbSNP:151143743" variation 619 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="a" /replace="g" /db_xref="dbSNP:375379532" variation 624 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="a" /replace="t" /db_xref="dbSNP:140049928" variation 633 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="a" /replace="g" /db_xref="dbSNP:150295101" variation 639 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="a" /replace="g" /db_xref="dbSNP:138981524" variation 659 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="c" /replace="t" /db_xref="dbSNP:142224285" variation 660 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="a" /replace="g" /db_xref="dbSNP:145834587" variation 690 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="c" /replace="t" /db_xref="dbSNP:375094591" variation 728 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="a" /replace="g" /db_xref="dbSNP:180778179" variation 768 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="c" /replace="t" /db_xref="dbSNP:9852" variation 769 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="g" /replace="t" /db_xref="dbSNP:187612705" STS 800..971 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /standard_name="D4S2507E" /db_xref="UniSTS:28882" variation 802 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="g" /replace="t" /db_xref="dbSNP:190339487" variation 818 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="a" /replace="g" /db_xref="dbSNP:182167537" STS 831..980 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /standard_name="SHGC-59210" /db_xref="UniSTS:27409" variation 869 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="a" /replace="g" /db_xref="dbSNP:12644032" variation 879..880 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="" /replace="t" /db_xref="dbSNP:140473695" variation 880..881 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="" /replace="t" /db_xref="dbSNP:71751139" variation 889 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="a" /replace="t" /db_xref="dbSNP:2882" variation 891 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="a" /replace="c" /db_xref="dbSNP:15275" variation 902 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="g" /replace="t" /db_xref="dbSNP:15276" variation 954 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="c" /replace="t" /db_xref="dbSNP:186099739" variation 1046 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="g" /replace="t" /db_xref="dbSNP:190469420" variation 1048 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="a" /replace="c" /db_xref="dbSNP:181354169" variation 1066 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="a" /replace="g" /db_xref="dbSNP:185625994" variation 1081 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="a" /replace="g" /db_xref="dbSNP:16994264" variation 1125 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="a" /replace="g" /db_xref="dbSNP:75695278" variation 1231 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="a" /replace="c" /db_xref="dbSNP:368725051" variation 1250 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="a" /replace="g" /db_xref="dbSNP:148588413" variation 1295 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="a" /replace="g" /db_xref="dbSNP:11941514" variation 1320 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="c" /replace="g" /db_xref="dbSNP:191175689" variation 1496..1497 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="" /replace="a" /db_xref="dbSNP:368675910" variation 1530 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="c" /replace="t" /db_xref="dbSNP:75566567" variation 1641 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="a" /replace="g" /db_xref="dbSNP:143013479" variation 1657 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="c" /replace="t" /db_xref="dbSNP:182546614" variation 1728 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="a" /replace="g" /db_xref="dbSNP:375227250" variation 1786 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="a" /replace="c" /db_xref="dbSNP:189248409" variation 1825..1826 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="" /replace="a" /db_xref="dbSNP:371391694" variation 1826 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="" /replace="a" /db_xref="dbSNP:11330073" variation 1867 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="a" /replace="c" /db_xref="dbSNP:368299523" variation 1905 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="c" /replace="t" /db_xref="dbSNP:62297301" variation 1920 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="c" /replace="t" /db_xref="dbSNP:371752989" variation 1952 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="c" /replace="g" /db_xref="dbSNP:78069747" variation 2102 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="a" /replace="g" /db_xref="dbSNP:140112639" variation 2106 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="c" /replace="t" /db_xref="dbSNP:143776110" variation 2107 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="g" /replace="t" /db_xref="dbSNP:16994266" variation 2149 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="c" /replace="g" /db_xref="dbSNP:199682170" variation 2149 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="" /replace="g" /db_xref="dbSNP:3839162" STS 2246..2456 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /standard_name="WI-22198" /db_xref="UniSTS:12477" STS 2248..2370 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /standard_name="RH47722" /db_xref="UniSTS:67692" variation 2250 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="c" /replace="g" /db_xref="dbSNP:191975309" STS 2260..2354 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /standard_name="D4S2540E" /db_xref="UniSTS:150969" variation 2277 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="a" /replace="g" /db_xref="dbSNP:146830672" variation 2321 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="c" /replace="t" /db_xref="dbSNP:374944172" variation 2340 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="a" /replace="t" /db_xref="dbSNP:77368662" variation 2385 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="c" /replace="g" /db_xref="dbSNP:77698656" variation 2461 /gene="TBC1D1" /gene_synonym="TBC; TBC1" /replace="a" /replace="g" /db_xref="dbSNP:371533159" ORIGIN
gagaaatttttccttcggctcataaatgggtaaaaagacgttaacaaacaagcagactccactttggaaatgatagcccttctattgcagagtaatttgaagctctctgaagctcactctaatgacttcataaatcaaagctgcagcttgtaaagatatgatttttcttcagggaacagaggtcatatttaaagtggctttaagtctgttgggaagccataagcccttgattctgcagcatgaaaacctagaaaccatagttgactttataaaaagcacgctacccaaccttggcttggtacagatggaaaagaccatcaatcaggtatttgaaatggacatcgctaaacagttacaagcttatgaagttgagtaccacgtccttcaagaagaacttatcgattcctctcctctcagtgacaaccaaagaatggataaattagagaaaaccaacagcagcttacgcaaacagaaccttgacctccttgaacagttgcaggtggcaaatggtaggatccaaagccttgaggccaccattgagaagctcctgagcagtgagagcaagctgaagcaggccatgcttaccttagaactggagcggtcggccctgctgcagacggtggaggagctgcggcggcggagcgcagagcccagcgaccgggagcctgagtgcacgcagcccgagcccacgggcgactgacagctctgcaggagagattgcaacaccatcccacactgtccaggccttaactgagagggacagaagacgctggaaggagagaaggaagcgggaagtgtgcttctcagggaggaaaccggcttgccagcaagtagattcttacgaactccaacttgcaattcagggggcatgtcccagtgttttttttgttgtttttagatactaaatcgtcccttctccagtcctgattactgtacacagtagctttagatggcgtggacgtgaataaatgcaacttatgttttcttgttggttcctttttgagtgtcactgtgtttgtaaagagcattcacaatacggtggaatttcaaaagctggaagagctcgagatcatgcctcaggcaaaggcgtgggtccatcgttcttccgagagggtttgtgtggcgactacaccctcagcgtccctggcaaggtgcagttggctctcgcccattcttgttatggaaacctaagatgatcattgggaagatcagtgatcttgggtcattgatccctggctcagaggatagcggtttccatcataaaccaagatgatgagttcagcctttatccctcgtggttccactagatgtaacttaaaggagttaacatttgaggactttgttctacatcagattttactatttgaatgtttaagatcactttattgaatttgaagatcatcaaattaaataaaatgatttatttaatttggatatcctgatcactgtcaagtgaaatggatctctctctttggtatttaaggaagtttgtctttaaaaaaaaaatagagtgttttcatacatttttgcttatcccataagtacagttgatcaaagtcatagtaggtaaatgctttatgggacagctgacaccttttagaccctaccaggtattgctagcatgtgagctgcagttgtggggtctgagatatttctttgtggtagtttcatacccatactatagagtcatgtatttatttttgcctgttgtgtgatgtaatgcaatcatgttcctttgagtctccatcccttggaaatctgacttcttgcagaaggagtaggcacatcaagatattcaggggtgccccaagagtctgggactttcaaaaaaaaaagatcaggctgaaactgcagtcagatttatgacagctgacagtttttcagaggtcgcacacagtgactctcctctctcaggatgacgaggacctgtgccttcaacaagcaaaatgctgctcacggttgtcctgcttgcagccagtcactgtgtaaagcctctctgatgtgcacttaagagtgggttgctttctcacaaagatggggttctgtgcagtcacaggtcacttccttgacaacacaatcatttctgatctttatcactgtaaccacgtcttctattccataggagtttcttttgattctctcagttgcggggggcatctcttaatcctggggtaaaaggagagattgccatacttagactcactgtgagtctccccggccatttcacgaggagaccacagtgctgccaccagtgcctaaacaggtggctggcattcgagacttcctcctgttccctgggtcagaggatagcggtttccatcataaaccaagatgatgagttcagcctttatccctcgtggttccgctagatgtaacttataggagttaacatttgaggactttgttctgcatcagatcttactatttgaatgtttactgttggattttgggcatcttattactgttactcaaaaacattgactctgcatcaagaaagaaacaagaaagcaataaaacaagaaataattcatgctcacatt
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:23216 -> Molecular function: GO:0005097 [Rab GTPase activator activity] evidence: IEA GeneID:23216 -> Biological process: GO:0016044 [cellular membrane organization] evidence: TAS GeneID:23216 -> Biological process: GO:0032880 [regulation of protein localization] evidence: IEA GeneID:23216 -> Cellular component: GO:0005634 [nucleus] evidence: IEA GeneID:23216 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
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