LOCUS       NM_176812               1602 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens charged multivesicular body protein 4B (CHMP4B), mRNA.
ACCESSION   NM_176812
VERSION     NM_176812.5
KEYWORDS    RefSeq; MANE Select.
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 1602)
  AUTHORS   Yang,Y., Chen,H.L., Wu,S.F. and Bao,W.
  TITLE     CHMP4B and VSP4A reverse GSDMD-mediated pyroptosis by cell membrane
            remodeling in endometrial carcinoma
  JOURNAL   Biochim Biophys Acta Gen Subj 1868 (1), 130497 (2024)
   PUBMED   37931722
  REMARK    GeneRIF: CHMP4B and VSP4A reverse GSDMD-mediated pyroptosis by cell
            membrane remodeling in endometrial carcinoma.
REFERENCE   2  (bases 1 to 1602)
  AUTHORS   Fu,J.L., Zheng,S.Y., Wang,Y., Hu,X.B., Xiao,Y., Wang,J.M.,
            Zhang,L., Wang,L., Nie,Q., Hou,M., Bai,Y.Y., Gan,Y.W., Liang,X.M.,
            Xie,L.L. and Li,D.W.
  TITLE     HSP90beta prevents aging-related cataract formation through
            regulation of the charged multivesicular body protein (CHMP4B) and
            p53
  JOURNAL   Proc Natl Acad Sci U S A 120 (31), e2221522120 (2023)
   PUBMED   37487085
  REMARK    GeneRIF: HSP90beta prevents aging-related cataract formation
            through regulation of the charged multivesicular body protein
            (CHMP4B) and p53.
REFERENCE   3  (bases 1 to 1602)
  AUTHORS   Wenzel,D.M., Mackay,D.R., Skalicky,J.J., Paine,E.L., Miller,M.S.,
            Ullman,K.S. and Sundquist,W.I.
  TITLE     Comprehensive analysis of the human ESCRT-III-MIT domain
            interactome reveals new cofactors for cytokinetic abscission
  JOURNAL   Elife 11, e77779 (2022)
   PUBMED   36107470
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1602)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   5  (bases 1 to 1602)
  AUTHORS   Hanson,P.I., Roth,R., Lin,Y. and Heuser,J.E.
  TITLE     Plasma membrane deformation by circular arrays of ESCRT-III protein
            filaments
  JOURNAL   J Cell Biol 180 (2), 389-402 (2008)
   PUBMED   18209100
  REMARK    GeneRIF: Study demonstrates that CHMP4A and CHMP4B proteins form
            novel membrane-attached filaments that can promote or stabilize
            negative curvature and outward budding.
REFERENCE   6  (bases 1 to 1602)
  AUTHORS   Shiels,A., Bennett,T.M., Knopf,H.L., Yamada,K., Yoshiura,K.,
            Niikawa,N., Shim,S. and Hanson,P.I.
  TITLE     CHMP4B, a novel gene for autosomal dominant cataracts linked to
            chromosome 20q
  JOURNAL   Am J Hum Genet 81 (3), 596-606 (2007)
   PUBMED   17701905
  REMARK    GeneRIF: These data provide the first evidence that CHMP4B plays a
            vital role the maintenance of lens transparency.
REFERENCE   7  (bases 1 to 1602)
  AUTHORS   Katoh,K., Shibata,H., Hatta,K. and Maki,M.
  TITLE     CHMP4b is a major binding partner of the ALG-2-interacting protein
            Alix among the three CHMP4 isoforms
  JOURNAL   Arch Biochem Biophys 421 (1), 159-165 (2004)
   PUBMED   14678797
REFERENCE   8  (bases 1 to 1602)
  AUTHORS   Katoh,K., Shibata,H., Suzuki,H., Nara,A., Ishidoh,K., Kominami,E.,
            Yoshimori,T. and Maki,M.
  TITLE     The ALG-2-interacting protein Alix associates with CHMP4b, a human
            homologue of yeast Snf7 that is involved in multivesicular body
            sorting
  JOURNAL   J Biol Chem 278 (40), 39104-39113 (2003)
   PUBMED   12860994
  REMARK    GeneRIF: CHMP4b and Alix participate in formation of multivesicular
            bodies by cooperating with SKD1
REFERENCE   9  (bases 1 to 1602)
  AUTHORS   Deloukas,P., Matthews,L.H., Ashurst,J., Burton,J., Gilbert,J.G.,
            Jones,M., Stavrides,G., Almeida,J.P., Babbage,A.K., Bagguley,C.L.,
            Bailey,J., Barlow,K.F., Bates,K.N., Beard,L.M., Beare,D.M.,
            Beasley,O.P., Bird,C.P., Blakey,S.E., Bridgeman,A.M., Brown,A.J.,
            Buck,D., Burrill,W., Butler,A.P., Carder,C., Carter,N.P.,
            Chapman,J.C., Clamp,M., Clark,G., Clark,L.N., Clark,S.Y.,
            Clee,C.M., Clegg,S., Cobley,V.E., Collier,R.E., Connor,R.,
            Corby,N.R., Coulson,A., Coville,G.J., Deadman,R., Dhami,P.,
            Dunn,M., Ellington,A.G., Frankland,J.A., Fraser,A., French,L.,
            Garner,P., Grafham,D.V., Griffiths,C., Griffiths,M.N., Gwilliam,R.,
            Hall,R.E., Hammond,S., Harley,J.L., Heath,P.D., Ho,S., Holden,J.L.,
            Howden,P.J., Huckle,E., Hunt,A.R., Hunt,S.E., Jekosch,K.,
            Johnson,C.M., Johnson,D., Kay,M.P., Kimberley,A.M., King,A.,
            Knights,A., Laird,G.K., Lawlor,S., Lehvaslaiho,M.H., Leversha,M.,
            Lloyd,C., Lloyd,D.M., Lovell,J.D., Marsh,V.L., Martin,S.L.,
            McConnachie,L.J., McLay,K., McMurray,A.A., Milne,S., Mistry,D.,
            Moore,M.J., Mullikin,J.C., Nickerson,T., Oliver,K., Parker,A.,
            Patel,R., Pearce,T.A., Peck,A.I., Phillimore,B.J.,
            Prathalingam,S.R., Plumb,R.W., Ramsay,H., Rice,C.M., Ross,M.T.,
            Scott,C.E., Sehra,H.K., Shownkeen,R., Sims,S., Skuce,C.D.,
            Smith,M.L., Soderlund,C., Steward,C.A., Sulston,J.E., Swann,M.,
            Sycamore,N., Taylor,R., Tee,L., Thomas,D.W., Thorpe,A., Tracey,A.,
            Tromans,A.C., Vaudin,M., Wall,M., Wallis,J.M., Whitehead,S.L.,
            Whittaker,P., Willey,D.L., Williams,L., Williams,S.A., Wilming,L.,
            Wray,P.W., Hubbard,T., Durbin,R.M., Bentley,D.R., Beck,S. and
            Rogers,J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
REFERENCE   10 (bases 1 to 1602)
  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 CT001913.1, BC033859.1 and
            BU150721.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_176812.4.
            
            Summary: This gene encodes a member of the chromatin-modifying
            protein/charged multivesicular body protein (CHMP) protein family.
            The protein is part of the endosomal sorting complex required for
            transport (ESCRT) complex III (ESCRT-III), which functions in the
            sorting of endocytosed cell-surface receptors into multivesicular
            endosomes. The ESCRT machinery also functions in the final
            abscisson stage of cytokinesis and in the budding of enveloped
            viruses such as HIV-1. The three proteins of the CHMP4 subfamily
            interact with programmed cell death 6 interacting protein (PDCD6IP,
            also known as ALIX), which also functions in the ESCRT pathway. The
            CHMP4 proteins assemble into membrane-attached 5-nm filaments that
            form circular scaffolds and promote or stabilize outward budding.
            These polymers are proposed to help generate the luminal vesicles
            of multivesicular bodies. Mutations in this gene result in
            autosomal dominant posterior polar cataracts.[provided by RefSeq,
            Oct 2009].
            
            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 :: SRR3476690.522347.1,
                                           SRR3476690.263413.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000217402.3/ ENSP00000217402.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-47                CT001913.1         45-91
            48-1600             BC033859.1         36-1588
            1601-1602           BU150721.1         578-579
FEATURES             Location/Qualifiers
     source          1..1602
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.22"
     gene            1..1602
                     /gene="CHMP4B"
                     /gene_synonym="C20orf178; CHMP4A; CTPP3; CTRCT31;
                     dJ553F4.4; Shax1; SNF7; SNF7-2; Vps32-2; VPS32B"
                     /note="charged multivesicular body protein 4B"
                     /db_xref="GeneID:128866"
                     /db_xref="HGNC:HGNC:16171"
                     /db_xref="MIM:610897"
     exon            1..311
                     /gene="CHMP4B"
                     /gene_synonym="C20orf178; CHMP4A; CTPP3; CTRCT31;
                     dJ553F4.4; Shax1; SNF7; SNF7-2; Vps32-2; VPS32B"
                     /inference="alignment:Splign:2.1.0"
     CDS             122..796
                     /gene="CHMP4B"
                     /gene_synonym="C20orf178; CHMP4A; CTPP3; CTRCT31;
                     dJ553F4.4; Shax1; SNF7; SNF7-2; Vps32-2; VPS32B"
                     /note="vacuolar protein-sorting-associated protein 32-2;
                     Snf7 homologue associated with Alix 1; chromatin-modifying
                     protein 4b; SNF7 homolog associated with Alix 1; chromatin
                     modifying protein 4B"
                     /codon_start=1
                     /product="charged multivesicular body protein 4b"
                     /protein_id="NP_789782.1"
                     /db_xref="CCDS:CCDS13228.1"
                     /db_xref="GeneID:128866"
                     /db_xref="HGNC:HGNC:16171"
                     /db_xref="MIM:610897"
                     /translation="MSVFGKLFGAGGGKAGKGGPTPQEAIQRLRDTEEMLSKKQEFLE
                     KKIEQELTAAKKHGTKNKRAALQALKRKKRYEKQLAQIDGTLSTIEFQREALENANTN
                     TEVLKNMGYAAKAMKAAHDNMDIDKVDELMQDIADQQELAEEISTAISKPVGFGEEFD
                     EDELMAELEELEQEELDKNLLEISGPETVPLPNVPSIALPSKPAKKKEEEDDDMKELE
                     NWAGSM"
     exon            312..489
                     /gene="CHMP4B"
                     /gene_synonym="C20orf178; CHMP4A; CTPP3; CTRCT31;
                     dJ553F4.4; Shax1; SNF7; SNF7-2; Vps32-2; VPS32B"
                     /inference="alignment:Splign:2.1.0"
     exon            490..604
                     /gene="CHMP4B"
                     /gene_synonym="C20orf178; CHMP4A; CTPP3; CTRCT31;
                     dJ553F4.4; Shax1; SNF7; SNF7-2; Vps32-2; VPS32B"
                     /inference="alignment:Splign:2.1.0"
     exon            605..731
                     /gene="CHMP4B"
                     /gene_synonym="C20orf178; CHMP4A; CTPP3; CTRCT31;
                     dJ553F4.4; Shax1; SNF7; SNF7-2; Vps32-2; VPS32B"
                     /inference="alignment:Splign:2.1.0"
     exon            732..1602
                     /gene="CHMP4B"
                     /gene_synonym="C20orf178; CHMP4A; CTPP3; CTRCT31;
                     dJ553F4.4; Shax1; SNF7; SNF7-2; Vps32-2; VPS32B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1045..1050
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHMP4B"
                     /gene_synonym="C20orf178; CHMP4A; CTPP3; CTRCT31;
                     dJ553F4.4; Shax1; SNF7; SNF7-2; Vps32-2; VPS32B"
                     /note="hexamer: AATAAA"
     polyA_site      1068
                     /gene="CHMP4B"
                     /gene_synonym="C20orf178; CHMP4A; CTPP3; CTRCT31;
                     dJ553F4.4; Shax1; SNF7; SNF7-2; Vps32-2; VPS32B"
                     /note="major polyA site"
     regulatory      1577..1582
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHMP4B"
                     /gene_synonym="C20orf178; CHMP4A; CTPP3; CTRCT31;
                     dJ553F4.4; Shax1; SNF7; SNF7-2; Vps32-2; VPS32B"
                     /note="hexamer: ATTAAA"
     polyA_site      1602
                     /gene="CHMP4B"
                     /gene_synonym="C20orf178; CHMP4A; CTPP3; CTRCT31;
                     dJ553F4.4; Shax1; SNF7; SNF7-2; Vps32-2; VPS32B"
ORIGIN      
        1 ggagaggcct gcggcggcag ggagcggcgg gactgggagc gggcgccgga gccgacccga
       61 gccgagccga gccgagccga gccggagcgg gcggcgaagg ccggcgcggc gagcagcaac
      121 catgtcggtg ttcgggaagc tgttcggggc tggagggggt aaggccggca agggcggccc
      181 gaccccccag gaggccatcc agcggctgcg ggacacggaa gagatgttaa gcaagaaaca
      241 ggagttcctg gagaagaaaa tcgagcagga gctgacggcc gccaagaagc acggcaccaa
      301 aaacaagcgc gcggccctcc aggcactgaa gcgtaagaag aggtatgaga agcagctggc
      361 gcagatcgac ggcacattat caaccatcga gttccagcgg gaggccctgg agaatgccaa
      421 caccaacacc gaggtgctca agaacatggg ctatgccgcc aaggccatga aggcggccca
      481 tgacaacatg gacatcgata aagttgatga gttaatgcag gacattgctg accagcaaga
      541 acttgcagag gagatttcaa cagcaatttc gaaacctgta gggtttggag aagagtttga
      601 cgaggatgag ctcatggcgg aattagaaga actagaacag gaggaactag acaagaattt
      661 gctggaaatc agtggacccg aaacagtccc tctaccaaat gttccctcta tagccctacc
      721 atcaaaaccc gccaagaaga aagaagagga ggacgacgac atgaaggaat tggagaactg
      781 ggctggatcc atgtaatggg gtccagcgct ggctgggccc agacagactg tggtggcctg
      841 cgcagcgagc aggcgtgtgc gtgtgtgggg caggcaggat gtggtgcagg caggttccat
      901 cgctttcgac tctcactcca aagcagtagg gccgcgttgc tgctcactct ctgcatagca
      961 tggtctgcac ctgggagatg ggcgggggga ggggggcggg cggggtggga agtgcctgct
     1021 gtttataatg ttgaatttct gtaaaataaa ctgtatttgc aaatccaaca ttgagcttct
     1081 ggactacgct gactccactg ctgaatcctc aatggaaagg gtcgactggt tgcagttgaa
     1141 atgacctgaa atgtagcctc tgtccttgta agtcagttga cttgccgcac atctctttgt
     1201 gtacttgtac ggtactggca gaaaagtcat ttttcaaaag ccataggctt ttccttgccc
     1261 ttagctgtaa taatgcatct gattttgatt tcctccagag ctgtgtttct gtccatcacc
     1321 tgtgtattgg ccctgtgttt accactctgg cccactcctc acccccttgc tcccctggtc
     1381 ttctggagtt tgtgacattg atttgaaatg gatggtgttc tcttgagagc aagtgagatt
     1441 gttagaatta agttccaact atacagtttt ctaacatagc tataaggtcc ttgttgctgt
     1501 ttgtgataac tgatagataa ctcattggaa acgtgcatac atttatattc agatgaaatt
     1561 atggtttgca ctgtctatta aatatctcga ttaattttca ta
//
