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2024-04-27 02:51:43, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_016079 3194 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens charged multivesicular body protein 3 (CHMP3),
transcript variant 1, mRNA.
ACCESSION NM_016079
VERSION NM_016079.3 GI:301898687
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 3194)
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 3194)
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 3194)
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 3194)
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 3194)
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 3194)
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 3194)
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 3194)
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 3194)
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 3194)
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, AK312353.1,
BC004419.1, BU192410.1, AK025046.1 and AF151907.1.
On Jul 30, 2010 this sequence version replaced gi:54144644.
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 (1) represents the longest
transcript and encodes the longest isoform (1, also known as
Vps24alpha).
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 :: AF151907.1, BC004419.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084, ERS025088 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-57 DA290886.1 1-57
58-818 AK312353.1 4-764
819-2113 BC004419.1 717-2011
2114-2454 BU192410.1 11-351
2455-3114 AK025046.1 1345-2004
3115-3194 AF151907.1 2985-3064
FEATURES Location/Qualifiers
source 1..3194
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="2"
/map="2p11.2"
gene 1..3194
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
/note="charged multivesicular body protein 3"
/db_xref="GeneID:51652"
/db_xref="HGNC:29865"
/db_xref="HPRD:15650"
/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..818
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
/note="isoform 1 is encoded by transcript variant 1;
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 1"
/protein_id="NP_057163.1"
/db_xref="GI:7706353"
/db_xref="CCDS:CCDS33236.1"
/db_xref="GeneID:51652"
/db_xref="HGNC:29865"
/db_xref="HPRD:15650"
/db_xref="MIM:610052"
/translation="
MGLFGKTQEKPPKELVNEWSLKIRKEMRVVDRQIRDIQREEEKVKRSVKDAAKKGQKDVCIVLAKEMIRSRKAVSKLYASKAHMNSVLMGMKNQLAVLRVAGSLQKSTEVMKAMQSLVKIPEIQATMRELSKEMMKAGIIEEMLEDTFESMDDQEEMEEEAEMEIDRILFEITAGALGKAPSKVTDALPEPEPPGAMAASEDEEEEEEALEAMQSRLATLRS
"
misc_feature 153..488
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y3E7.3);
Region: Intramolecular interaction with C-terminus"
misc_feature 201..713
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
/note="Snf7; Region: Snf7; pfam03357"
/db_xref="CDD:146145"
misc_feature 291..293
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
/experiment="experimental evidence, no additional details
recorded"
/note="Important for autoinhibitory function; propagated
from UniProtKB/Swiss-Prot (Q9Y3E7.3); other site"
misc_feature 324..341
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y3E7.3);
Region: Important for autoinhibitory function"
misc_feature 600..815
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y3E7.3);
Region: Interaction with VPS4A"
misc_feature 600..809
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y3E7.3);
Region: Intramolecular interaction with N-terminus"
misc_feature 651..656
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y3E7.3);
Region: Important for autoinhibitory function"
misc_feature 747..749
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q9Y3E7.3); phosphorylation site"
misc_feature 747..749
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 750..782
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y3E7.3);
Region: MIT-interacting motif"
misc_feature 756..770
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y3E7.3);
Region: Interaction with STAMBP"
misc_feature 810..815
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y3E7.3);
Region: Interaction with STAMBP"
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..435
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
/inference="alignment:Splign:1.39.8"
variation 395
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:11548929"
exon 436..557
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
/inference="alignment:Splign:1.39.8"
exon 558..672
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
/inference="alignment:Splign:1.39.8"
exon 673..3192
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
/inference="alignment:Splign:1.39.8"
variation 742
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
/replace="c"
/replace="t"
/db_xref="dbSNP:11548927"
STS 987..1113
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
/standard_name="SGC31339"
/db_xref="UniSTS:40133"
polyA_signal 997..1002
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
polyA_site 1021
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
variation 1094
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
/replace="c"
/replace="t"
/db_xref="dbSNP:3821014"
polyA_signal 1154..1159
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
variation 1169
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
/replace="c"
/replace="t"
/db_xref="dbSNP:3731812"
polyA_site 1178
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
variation 1221
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
/replace="a"
/replace="g"
/db_xref="dbSNP:3201448"
STS 1747..1939
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
/standard_name="RH69455"
/db_xref="UniSTS:30984"
variation 2114
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
/replace="a"
/replace="c"
/db_xref="dbSNP:3201487"
variation 2455
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
/replace="a"
/replace="g"
/db_xref="dbSNP:1137684"
variation 2973
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
/replace="g"
/replace="t"
/db_xref="dbSNP:1142029"
polyA_signal 3160..3165
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
polyA_site 3192
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
ORIGIN
gcatgcgcaacatcccctagtgccgccgctccctactctgggggttgggactacctccttttccgcgggccccgcccaggcggctgcccgtgacctgcctgggcgcggggaactgaaagccggaaggggcaagacgggttcagttcgtcatggggctgtttggaaagacccaggagaagccgcccaaagaactggtcaatgagtggtcattgaagataagaaaggaaatgagagttgttgacaggcaaataagggatatccaaagagaagaagaaaaagtgaaacgatctgtgaaagatgctgccaagaagggccagaaggatgtctgcatagttctggccaaggagatgatcaggtcaaggaaggctgtgagcaagctgtatgcatccaaagcacacatgaactcagtgctcatggggatgaagaaccagctcgcggtcttgcgagtggctggttccctgcagaagagcacagaagtgatgaaggccatgcaaagtcttgtgaagattccagagattcaggccaccatgagggagttgtccaaagaaatgatgaaggctgggatcatagaggagatgttagaggacacttttgaaagcatggacgatcaggaagaaatggaggaagaagcagaaatggaaattgacagaattctctttgaaattacagcaggggccttgggcaaagcacccagtaaagtgactgatgcccttccagagccagaacctccaggagcgatggctgcctcagaggatgaggaggaggaggaagaggctctggaggccatgcagtcccggctggccacactccgcagctaggggctgcctaccccgctgggtgtgcacacactcctctcaagagctgccattttatgtgtctcttgcactacacctctgttgtgaggactaccattttggagaaggttctgtttgtctcttttcattctctgcccaggttttgggatcgcaaagggattgttcttataaaagtggcataaataaatgcatcatttttaggagtatagacagatatatcttattgtggggaggggaaagaaatccatctgctcatgaagcacttctgaaaatataggtgattgcctgaatgtcgaagactctacttttgtctataaaacactatataaatgaattttaataaatttttgctttagcacttggccccattgtagattgccctgtgcagtaaactttcaaggtgtcggctgccccagattgcttcatttgctgggtgtggaaagagttgctatggccaggcatatgggatttggaagctcagcagaagtgacttctgctctgtggttgctgctccccggctttcacagacatggtatggcagccattcttttatctatttaaccaagaggatgctggggaattgtgctgcttgtcctgttggctggtggctgcattatgtcctggggtgtgcatgtgggtctatttagagcttctgtcccttccttcccattgcaagttgcacccagatgagacagctgtagtactaggtctctttcacctctcattgcctgtccctgcttcgagctggttgtcttgtgcgtgggacatgggccttcctatctgtgttttctcaaagtcaggagctgaccaggagcacactaaggtgtggtcatgcatcataaccaacattcactcatctgggacattcttaagatacatttataaatcatttcagcagtagtactttgtatgtgttgagagtttacagagctctttgacatacgcgatcttagtctttacaaataaggaaaacagctcagtttgggaagtatcagagatgggattcaaacccagatcctctggtccaagttgtatgtgcactgaactaatcaggcaggaaaaaagcccagccactgtctcacagattgttttttgtatattgtagcaaaatcctgaaacaatggggtccttccagtctcatcatacaaaatggcaatcttggctgggtgcggtggttcatgcctataatcccagtgctttacaaggctgaggcaggaggctctcttgagaataggagttcaagaccagcctgggcaacatagcaagatcctgtctctccaaaaaaaaaaaaaaaaaaaaaaaaaaatttcatttttgagtccagaggaccctcctattactcttgatttcatcttcagagtgtagttaaaaaattattttaaataattatttttttaaatcagttgtaggttcacagcaaaagtggacaaaaagaaatttctcatatatcccctgccctcacacatgcatagcctcccaccactatcagtatcccacaccagagtggtacatttgttacaatcaataaacctccattgacacatcattatcacccaaagtccatagtttacatgaagattcactctggtgttgtacattgtatgggcttagacaaatgtatgatgatatctacaattatagaatcatacagaatagtttcactgccctaaaacttctctatgcttcacctgttcatccctttcttccctaatcccctggcaaccactttaaaaaaaaaattaggttcagggggtacatgtgcaggtaaactcgtgacaagggggtttgttatacagattatttagtgacccaggtactaagcctagtacccaatagttacttttctggtcctgtcccttttcccaccctccaccctcaggtaggccccagtatgttattcctttgtgtccatgttatttcactcccacttgtgagaacatggaatatttggtttcctgttcctatgttagtttgttaaggataatggcctccagccccatccatgttcctgcaaaggacatgatctttctttggcaaccactttttactgtcgccatagttcttccttttctagaatgtcatattggaatcatatagtatgtagccttttcagactggcttctttcacttaataatatgcaattaaggttcctccatgtcatttcatggcttaatagtgcatttatttttagcactgaataatactccattgtctagatgaatagtttatccattcacctattgaaagacttcttggtggtttccaagttttggcaattatgaataaagctgttgtaaacatctttgtgcaggtttttctatgggcatgtttttaattcatttgaataaataccaagagcttcagtgctggatcataaa
//
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
by
@meso_cacase at
DBCLS
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