2024-04-27 08:43:14, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001193517 3074 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens charged multivesicular body protein 3 (CHMP3), transcript variant 3, mRNA. ACCESSION NM_001193517 VERSION NM_001193517.1 GI:301898720 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 3074) AUTHORS Solomons,J., Sabin,C., Poudevigne,E., Usami,Y., Hulsik,D.L., Macheboeuf,P., Hartlieb,B., Gottlinger,H. and Weissenhorn,W. TITLE Structural basis for ESCRT-III CHMP3 recruitment of AMSH JOURNAL Structure 19 (8), 1149-1159 (2011) PUBMED 21827950 REMARK GeneRIF: tight coupling of ESCRT-III CHMP3 and AMSH functions and provide insight into the regulation of ESCRT-III REFERENCE 2 (bases 1 to 3074) AUTHORS Merrill,S.A. and Hanson,P.I. TITLE Activation of human VPS4A by ESCRT-III proteins reveals ability of substrates to relieve enzyme autoinhibition JOURNAL J. Biol. Chem. 285 (46), 35428-35438 (2010) PUBMED 20805225 REFERENCE 3 (bases 1 to 3074) AUTHORS Lata,S., Schoehn,G., Jain,A., Pires,R., Piehler,J., Gottlinger,H.G. and Weissenhorn,W. TITLE Helical structures of ESCRT-III are disassembled by VPS4 JOURNAL Science 321 (5894), 1354-1357 (2008) PUBMED 18687924 REMARK GeneRIF: study found the ESCRT-III proteins CHMP2A & CHMP3 could assemble in vitro into helical tubular structures that expose their membrane interaction sites on the outside of the tubule; VPS4 could bind on the inside of the tubule & disassemble the tubes REFERENCE 4 (bases 1 to 3074) AUTHORS Row,P.E., Liu,H., Hayes,S., Welchman,R., Charalabous,P., Hofmann,K., Clague,M.J., Sanderson,C.M. and Urbe,S. TITLE The MIT domain of UBPY constitutes a CHMP binding and endosomal localization signal required for efficient epidermal growth factor receptor degradation JOURNAL J. Biol. Chem. 282 (42), 30929-30937 (2007) PUBMED 17711858 REMARK GeneRIF: UBPY MIT domain and another ubiquitin isopeptidase, AMSH, reveals common interactions with CHMP1A and CHMP1B but a distinct selectivity of AMSH for CHMP3/VPS24, a core subunit of the ESCRT-III complex, and UBPY for CHMP7. Erratum:[J Biol Chem. 2009 Mar 20;284(12):8207] REFERENCE 5 (bases 1 to 3074) AUTHORS Khoury,C.M., Yang,Z., Ismail,S. and Greenwood,M.T. TITLE Characterization of a novel alternatively spliced human transcript encoding an N-terminally truncated Vps24 protein that suppresses the effects of Bax in an ESCRT independent manner in yeast JOURNAL Gene 391 (1-2), 233-241 (2007) PUBMED 17331679 REMARK GeneRIF: Data demonstrate that the VPS24 gene gives rise to two functionally distinct proteins, one of which is involved in the ESCRT pathway and another novel protein that serves an anti-apoptotic role. REFERENCE 6 (bases 1 to 3074) AUTHORS Bache,K.G., Stuffers,S., Malerod,L., Slagsvold,T., Raiborg,C., Lechardeur,D., Walchli,S., Lukacs,G.L., Brech,A. and Stenmark,H. TITLE The ESCRT-III subunit hVps24 is required for degradation but not silencing of the epidermal growth factor receptor JOURNAL Mol. Biol. Cell 17 (6), 2513-2523 (2006) PUBMED 16554368 REMARK GeneRIF: ESCRT subunit is important for degradation of the epidermal growth factor receptor (EGFR) and for transport of the receptor from endosomes to lysosomes. REFERENCE 7 (bases 1 to 3074) AUTHORS Yan,Q., Hunt,P.R., Frelin,L., Vida,T.A., Pevsner,J. and Bean,A.J. TITLE mVps24p functions in EGF receptor sorting/trafficking from the early endosome JOURNAL Exp. Cell Res. 304 (1), 265-273 (2005) PUBMED 15707591 REFERENCE 8 (bases 1 to 3074) AUTHORS Whitley,P., Reaves,B.J., Hashimoto,M., Riley,A.M., Potter,B.V. and Holman,G.D. TITLE Identification of mammalian Vps24p as an effector of phosphatidylinositol 3,5-bisphosphate-dependent endosome compartmentalization JOURNAL J. Biol. Chem. 278 (40), 38786-38795 (2003) PUBMED 12878588 REMARK GeneRIF: In rodents, this protein selectively binds phosphatidylinositol 3,5-bisphosphate and phosphatidylinositol 3,4-bisphosphate and may participate in endosomal trafficking. REFERENCE 9 (bases 1 to 3074) AUTHORS Babst,M., Katzmann,D.J., Estepa-Sabal,E.J., Meerloo,T. and Emr,S.D. TITLE Escrt-III: an endosome-associated heterooligomeric protein complex required for mvb sorting JOURNAL Dev. Cell 3 (2), 271-282 (2002) PUBMED 12194857 REFERENCE 10 (bases 1 to 3074) AUTHORS Lippincott-Schwartz,J., Roberts,T.H. and Hirschberg,K. TITLE Secretory protein trafficking and organelle dynamics in living cells JOURNAL Annu. Rev. Cell Dev. Biol. 16, 557-589 (2000) PUBMED 11031247 REMARK Review article COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA290886.1, AK129502.1, AC068288.6 and AF151907.1. Summary: This gene encodes a protein that sorts transmembrane proteins into lysosomes/vacuoles via the multivesicular body (MVB) pathway. This protein, along with other soluble coiled-coil containing proteins, forms part of the ESCRT-III protein complex that binds to the endosomal membrane and recruits additional cofactors for protein sorting into the MVB. This protein may also co-immunoprecipitate with a member of the IFG-binding protein superfamily. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ring finger protein 103 (RNF103) gene. [provided by RefSeq, Nov 2010]. Transcript Variant: This variant (3) uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in an isoform (3) that 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 :: AK129502.1, BP226582.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025081, ERS025082 [ECO:0000350] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-194 DA290886.1 1-194 195-1048 AK129502.1 72-925 1049-3064 AC068288.6 115299-117314 c 3065-3074 AF151907.1 3055-3064 FEATURES Location/Qualifiers source 1..3074 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="2" /map="2p11.2" gene 1..3074 /gene="CHMP3" /gene_synonym="CGI-149; NEDF; VPS24" /note="charged multivesicular body protein 3" /db_xref="GeneID:51652" /db_xref="HGNC:29865" /db_xref="MIM:610052" exon 1..194 /gene="CHMP3" /gene_synonym="CGI-149; NEDF; VPS24" /inference="alignment:Splign:1.39.8" misc_feature 114..116 /gene="CHMP3" /gene_synonym="CGI-149; NEDF; VPS24" /note="upstream in-frame stop codon" CDS 150..698 /gene="CHMP3" /gene_synonym="CGI-149; NEDF; VPS24" /note="isoform 3 is encoded by transcript variant 3; neuroendocrine differentiation factor; vacuolar protein sorting 24 homolog; CHMP family, member 3; 25.1 protein; chromatin-modifying protein 3; vacuolar protein sorting-associated protein 24" /codon_start=1 /product="charged multivesicular body protein 3 isoform 3" /protein_id="NP_001180446.1" /db_xref="GI:301898721" /db_xref="CCDS:CCDS54375.1" /db_xref="GeneID:51652" /db_xref="HGNC:29865" /db_xref="MIM:610052" /translation="
MGLFGKTQEKPPKELVNEWSLKIRKEMRVVDRQIRDIQREEEKVKRSVKDAAKKGQKDVCIVLAKEMIRSRKAMQSLVKIPEIQATMRELSKEMMKAGIIEEMLEDTFESMDDQEEMEEEAEMEIDRILFEITAGALGKAPSKVTDALPEPEPPGAMAASEDEEEEEEALEAMQSRLATLRS
" misc_feature 201..593 /gene="CHMP3" /gene_synonym="CGI-149; NEDF; VPS24" /note="Snf7; Region: Snf7; cl02305" /db_xref="CDD:186521" variation 185 /gene="CHMP3" /gene_synonym="CGI-149; NEDF; VPS24" /replace="c" /replace="g" /db_xref="dbSNP:11548931" exon 195..255 /gene="CHMP3" /gene_synonym="CGI-149; NEDF; VPS24" /inference="alignment:Splign:1.39.8" exon 256..365 /gene="CHMP3" /gene_synonym="CGI-149; NEDF; VPS24" /inference="alignment:Splign:1.39.8" exon 366..437 /gene="CHMP3" /gene_synonym="CGI-149; NEDF; VPS24" /inference="alignment:Splign:1.39.8" exon 438..552 /gene="CHMP3" /gene_synonym="CGI-149; NEDF; VPS24" /inference="alignment:Splign:1.39.8" exon 553..3072 /gene="CHMP3" /gene_synonym="CGI-149; NEDF; VPS24" /inference="alignment:Splign:1.39.8" variation 622 /gene="CHMP3" /gene_synonym="CGI-149; NEDF; VPS24" /replace="c" /replace="t" /db_xref="dbSNP:11548927" STS 867..993 /gene="CHMP3" /gene_synonym="CGI-149; NEDF; VPS24" /standard_name="SGC31339" /db_xref="UniSTS:40133" polyA_signal 877..882 /gene="CHMP3" /gene_synonym="CGI-149; NEDF; VPS24" polyA_site 901 /gene="CHMP3" /gene_synonym="CGI-149; NEDF; VPS24" variation 974 /gene="CHMP3" /gene_synonym="CGI-149; NEDF; VPS24" /replace="c" /replace="t" /db_xref="dbSNP:3821014" polyA_signal 1034..1039 /gene="CHMP3" /gene_synonym="CGI-149; NEDF; VPS24" variation 1049 /gene="CHMP3" /gene_synonym="CGI-149; NEDF; VPS24" /replace="c" /replace="t" /db_xref="dbSNP:3731812" polyA_site 1058 /gene="CHMP3" /gene_synonym="CGI-149; NEDF; VPS24" variation 1101 /gene="CHMP3" /gene_synonym="CGI-149; NEDF; VPS24" /replace="a" /replace="g" /db_xref="dbSNP:3201448" STS 1627..1819 /gene="CHMP3" /gene_synonym="CGI-149; NEDF; VPS24" /standard_name="RH69455" /db_xref="UniSTS:30984" variation 1994 /gene="CHMP3" /gene_synonym="CGI-149; NEDF; VPS24" /replace="a" /replace="c" /db_xref="dbSNP:3201487" variation 2335 /gene="CHMP3" /gene_synonym="CGI-149; NEDF; VPS24" /replace="a" /replace="g" /db_xref="dbSNP:1137684" variation 2853 /gene="CHMP3" /gene_synonym="CGI-149; NEDF; VPS24" /replace="g" /replace="t" /db_xref="dbSNP:1142029" polyA_signal 3040..3045 /gene="CHMP3" /gene_synonym="CGI-149; NEDF; VPS24" polyA_site 3072 /gene="CHMP3" /gene_synonym="CGI-149; NEDF; VPS24" ORIGIN
gcatgcgcaacatcccctagtgccgccgctccctactctgggggttgggactacctccttttccgcgggccccgcccaggcggctgcccgtgacctgcctgggcgcggggaactgaaagccggaaggggcaagacgggttcagttcgtcatggggctgtttggaaagacccaggagaagccgcccaaagaactggtcaatgagtggtcattgaagataagaaaggaaatgagagttgttgacaggcaaataagggatatccaaagagaagaagaaaaagtgaaacgatctgtgaaagatgctgccaagaagggccagaaggatgtctgcatagttctggccaaggagatgatcaggtcaaggaaggccatgcaaagtcttgtgaagattccagagattcaggccaccatgagggagttgtccaaagaaatgatgaaggctgggatcatagaggagatgttagaggacacttttgaaagcatggacgatcaggaagaaatggaggaagaagcagaaatggaaattgacagaattctctttgaaattacagcaggggccttgggcaaagcacccagtaaagtgactgatgcccttccagagccagaacctccaggagcgatggctgcctcagaggatgaggaggaggaggaagaggctctggaggccatgcagtcccggctggccacactccgcagctaggggctgcctaccccgctgggtgtgcacacactcctctcaagagctgccattttatgtgtctcttgcactacacctctgttgtgaggactaccattttggagaaggttctgtttgtctcttttcattctctgcccaggttttgggatcgcaaagggattgttcttataaaagtggcataaataaatgcatcatttttaggagtatagacagatatatcttattgtggggaggggaaagaaatccatctgctcatgaagcacttctgaaaatataggtgattgcctgaatgtcgaagactctacttttgtctataaaacactatataaatgaattttaataaatttttgctttagcacttggccccattgtagattgccctgtgcagtaaactttcaaggtgtcggctgccccagattgcttcatttgctgggtgtggaaagagttgctatggccaggcatatgggatttggaagctcagcagaagtgacttctgctctgtggttgctgctccccggctttcacagacatggtatggcagccattcttttatctatttaaccaagaggatgctggggaattgtgctgcttgtcctgttggctggtggctgcattatgtcctggggtgtgcatgtgggtctatttagagcttctgtcccttccttcccattgcaagttgcacccagatgagacagctgtagtactaggtctctttcacctctcattgcctgtccctgcttcgagctggttgtcttgtgcgtgggacatgggccttcctatctgtgttttctcaaagtcaggagctgaccaggagcacactaaggtgtggtcatgcatcataaccaacattcactcatctgggacattcttaagatacatttataaatcatttcagcagtagtactttgtatgtgttgagagtttacagagctctttgacatacgcgatcttagtctttacaaataaggaaaacagctcagtttgggaagtatcagagatgggattcaaacccagatcctctggtccaagttgtatgtgcactgaactaatcaggcaggaaaaaagcccagccactgtctcacagattgttttttgtatattgtagcaaaatcctgaaacaatggggtccttccagtctcatcatacaaaatggcaatcttggctgggtgcggtggttcatgcctataatcccagtgctttacaaggctgaggcaggaggctctcttgagaataggagttcaagaccagcctgggcaacatagcaagatcctgtctctccaaaaaaaaaaaaaaaaaaaaaaaaaaatttcatttttgagtccagaggaccctcctattactcttgatttcatcttcagagtgtagttaaaaaattattttaaataattatttttttaaatcagttgtaggttcacagcaaaagtggacaaaaagaaatttctcatatatcccctgccctcacacatgcatagcctcccaccactatcagtatcccacaccagagtggtacatttgttacaatcaataaacctccattgacacatcattatcacccaaagtccatagtttacatgaagattcactctggtgttgtacattgtatgggcttagacaaatgtatgatgatatctacaattatagaatcatacagaatagtttcactgccctaaaacttctctatgcttcacctgttcatccctttcttccctaatcccctggcaaccactttaaaaaaaaaattaggttcagggggtacatgtgcaggtaaactcgtgacaagggggtttgttatacagattatttagtgacccaggtactaagcctagtacccaatagttacttttctggtcctgtcccttttcccaccctccaccctcaggtaggccccagtatgttattcctttgtgtccatgttatttcactcccacttgtgagaacatggaatatttggtttcctgttcctatgttagtttgttaaggataatggcctccagccccatccatgttcctgcaaaggacatgatctttctttggcaaccactttttactgtcgccatagttcttccttttctagaatgtcatattggaatcatatagtatgtagccttttcagactggcttctttcacttaataatatgcaattaaggttcctccatgtcatttcatggcttaatagtgcatttatttttagcactgaataatactccattgtctagatgaatagtttatccattcacctattgaaagacttcttggtggtttccaagttttggcaattatgaataaagctgttgtaaacatctttgtgcaggtttttctatgggcatgtttttaattcatttgaataaataccaagagcttcagtgctggatcataaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:51652 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:51652 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA GeneID:51652 -> Biological process: GO:0007049 [cell cycle] evidence: IEA GeneID:51652 -> Biological process: GO:0015031 [protein transport] evidence: IEA GeneID:51652 -> Biological process: GO:0016032 [viral process] evidence: TAS GeneID:51652 -> Biological process: GO:0016044 [cellular membrane organization] evidence: TAS GeneID:51652 -> Biological process: GO:0016197 [endosomal transport] evidence: TAS GeneID:51652 -> Biological process: GO:0019067 [viral assembly, maturation, egress, and release] evidence: TAS GeneID:51652 -> Biological process: GO:0051301 [cell division] evidence: IEA GeneID:51652 -> Cellular component: GO:0005829 [cytosol] evidence: TAS GeneID:51652 -> Cellular component: GO:0031902 [late endosome membrane] evidence: IEA
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