Home |
Help |
Advanced search
2024-04-26 14:49:26, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001005753 3133 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens charged multivesicular body protein 3 (CHMP3),
transcript variant 2, mRNA.
ACCESSION NM_001005753
VERSION NM_001005753.2 GI:301898689
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 3133)
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 3133)
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 3133)
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 3133)
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 3133)
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 3133)
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 3133)
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 3133)
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 3133)
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 3133)
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, AK290725.1,
AC068288.6 and AF151907.1.
On Jul 30, 2010 this sequence version replaced gi:54144645.
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 (2) lacks an alternate exon in the
5' coding region, compared to variant 1. This results in
translation initiation from a downstream start codon and an isoform
(2, also known as Vps24beta) that has a shorter N-terminus,
compared to 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 :: AK290725.1, AK315835.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-109 DA290886.1 1-109
110-865 AK290725.1 1-756
866-3123 AC068288.6 115299-117556 c
3124-3133 AF151907.1 3055-3064
FEATURES Location/Qualifiers
source 1..3133
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="2"
/map="2p11.2"
gene 1..3133
/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"
variation 185
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
/replace="c"
/replace="g"
/db_xref="dbSNP:11548931"
exon 195..374
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
/inference="alignment:Splign:1.39.8"
CDS 287..757
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
/note="isoform 2 is encoded by transcript variant 2;
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 2"
/protein_id="NP_001005753.1"
/db_xref="GI:54144646"
/db_xref="CCDS:CCDS42707.1"
/db_xref="GeneID:51652"
/db_xref="HGNC:29865"
/db_xref="HPRD:15650"
/db_xref="MIM:610052"
/translation="
MIRSRKAVSKLYASKAHMNSVLMGMKNQLAVLRVAGSLQKSTEVMKAMQSLVKIPEIQATMRELSKEMMKAGIIEEMLEDTFESMDDQEEMEEEAEMEIDRILFEITAGALGKAPSKVTDALPEPEPPGAMAASEDEEEEEEALEAMQSRLATLRS
"
misc_feature <287..652
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
/note="Snf7; Region: Snf7; pfam03357"
/db_xref="CDD:146145"
misc_feature 686..688
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
variation 334
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:11548929"
exon 375..496
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
/inference="alignment:Splign:1.39.8"
exon 497..611
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
/inference="alignment:Splign:1.39.8"
exon 612..3131
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
/inference="alignment:Splign:1.39.8"
variation 681
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
/replace="c"
/replace="t"
/db_xref="dbSNP:11548927"
STS 926..1052
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
/standard_name="SGC31339"
/db_xref="UniSTS:40133"
polyA_signal 936..941
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
polyA_site 960
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
variation 1033
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
/replace="c"
/replace="t"
/db_xref="dbSNP:3821014"
polyA_signal 1093..1098
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
variation 1108
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
/replace="c"
/replace="t"
/db_xref="dbSNP:3731812"
polyA_site 1117
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
variation 1160
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
/replace="a"
/replace="g"
/db_xref="dbSNP:3201448"
STS 1686..1878
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
/standard_name="RH69455"
/db_xref="UniSTS:30984"
variation 2053
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
/replace="a"
/replace="c"
/db_xref="dbSNP:3201487"
variation 2394
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
/replace="a"
/replace="g"
/db_xref="dbSNP:1137684"
variation 2912
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
/replace="g"
/replace="t"
/db_xref="dbSNP:1142029"
polyA_signal 3099..3104
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
polyA_site 3131
/gene="CHMP3"
/gene_synonym="CGI-149; NEDF; VPS24"
ORIGIN
gcatgcgcaacatcccctagtgccgccgctccctactctgggggttgggactacctccttttccgcgggccccgcccaggcggctgcccgtgacctgcctgggcgcggggaactgaaagccggaaggggcaagacgggttcagttcgtcatggggctgtttggaaagacccaggagaagccgcccaaagaactgatatccaaagagaagaagaaaaagtgaaacgatctgtgaaagatgctgccaagaagggccagaaggatgtctgcatagttctggccaaggagatgatcaggtcaaggaaggctgtgagcaagctgtatgcatccaaagcacacatgaactcagtgctcatggggatgaagaaccagctcgcggtcttgcgagtggctggttccctgcagaagagcacagaagtgatgaaggccatgcaaagtcttgtgaagattccagagattcaggccaccatgagggagttgtccaaagaaatgatgaaggctgggatcatagaggagatgttagaggacacttttgaaagcatggacgatcaggaagaaatggaggaagaagcagaaatggaaattgacagaattctctttgaaattacagcaggggccttgggcaaagcacccagtaaagtgactgatgcccttccagagccagaacctccaggagcgatggctgcctcagaggatgaggaggaggaggaagaggctctggaggccatgcagtcccggctggccacactccgcagctaggggctgcctaccccgctgggtgtgcacacactcctctcaagagctgccattttatgtgtctcttgcactacacctctgttgtgaggactaccattttggagaaggttctgtttgtctcttttcattctctgcccaggttttgggatcgcaaagggattgttcttataaaagtggcataaataaatgcatcatttttaggagtatagacagatatatcttattgtggggaggggaaagaaatccatctgctcatgaagcacttctgaaaatataggtgattgcctgaatgtcgaagactctacttttgtctataaaacactatataaatgaattttaataaatttttgctttagcacttggccccattgtagattgccctgtgcagtaaactttcaaggtgtcggctgccccagattgcttcatttgctgggtgtggaaagagttgctatggccaggcatatgggatttggaagctcagcagaagtgacttctgctctgtggttgctgctccccggctttcacagacatggtatggcagccattcttttatctatttaaccaagaggatgctggggaattgtgctgcttgtcctgttggctggtggctgcattatgtcctggggtgtgcatgtgggtctatttagagcttctgtcccttccttcccattgcaagttgcacccagatgagacagctgtagtactaggtctctttcacctctcattgcctgtccctgcttcgagctggttgtcttgtgcgtgggacatgggccttcctatctgtgttttctcaaagtcaggagctgaccaggagcacactaaggtgtggtcatgcatcataaccaacattcactcatctgggacattcttaagatacatttataaatcatttcagcagtagtactttgtatgtgttgagagtttacagagctctttgacatacgcgatcttagtctttacaaataaggaaaacagctcagtttgggaagtatcagagatgggattcaaacccagatcctctggtccaagttgtatgtgcactgaactaatcaggcaggaaaaaagcccagccactgtctcacagattgttttttgtatattgtagcaaaatcctgaaacaatggggtccttccagtctcatcatacaaaatggcaatcttggctgggtgcggtggttcatgcctataatcccagtgctttacaaggctgaggcaggaggctctcttgagaataggagttcaagaccagcctgggcaacatagcaagatcctgtctctccaaaaaaaaaaaaaaaaaaaaaaaaaaatttcatttttgagtccagaggaccctcctattactcttgatttcatcttcagagtgtagttaaaaaattattttaaataattatttttttaaatcagttgtaggttcacagcaaaagtggacaaaaagaaatttctcatatatcccctgccctcacacatgcatagcctcccaccactatcagtatcccacaccagagtggtacatttgttacaatcaataaacctccattgacacatcattatcacccaaagtccatagtttacatgaagattcactctggtgttgtacattgtatgggcttagacaaatgtatgatgatatctacaattatagaatcatacagaatagtttcactgccctaaaacttctctatgcttcacctgttcatccctttcttccctaatcccctggcaaccactttaaaaaaaaaattaggttcagggggtacatgtgcaggtaaactcgtgacaagggggtttgttatacagattatttagtgacccaggtactaagcctagtacccaatagttacttttctggtcctgtcccttttcccaccctccaccctcaggtaggccccagtatgttattcctttgtgtccatgttatttcactcccacttgtgagaacatggaatatttggtttcctgttcctatgttagtttgttaaggataatggcctccagccccatccatgttcctgcaaaggacatgatctttctttggcaaccactttttactgtcgccatagttcttccttttctagaatgtcatattggaatcatatagtatgtagccttttcagactggcttctttcacttaataatatgcaattaaggttcctccatgtcatttcatggcttaatagtgcatttatttttagcactgaataatactccattgtctagatgaatagtttatccattcacctattgaaagacttcttggtggtttccaagttttggcaattatgaataaagctgttgtaaacatctttgtgcaggtttttctatgggcatgtttttaattcatttgaataaataccaagagcttcagtgctggatcataaa
//
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
This page is licensed under a Creative Commons Attribution 2.1 Japan License.