LOCUS       NM_152272               3410 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens charged multivesicular body protein 7 (CHMP7),
            transcript variant 1, mRNA.
ACCESSION   NM_152272 XM_005273686
VERSION     NM_152272.5
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 3410)
  AUTHORS   Baskerville,V., Rapuri,S., Mehlhop,E. and Coyne,A.N.
  TITLE     SUN1 facilitates CHMP7 nuclear influx and injury cascades in
            sporadic amyotrophic lateral sclerosis
  JOURNAL   Brain 147 (1), 109-121 (2024)
   PUBMED   37639327
  REMARK    GeneRIF: SUN1 facilitates CHMP7 nuclear influx and injury cascades
            in sporadic amyotrophic lateral sclerosis.
REFERENCE   2  (bases 1 to 3410)
  AUTHORS   Chu,Q., Wang,J., Du,Y., Zhou,T., Shi,A., Xiong,J., Ji,W.K. and
            Deng,L.
  TITLE     Oligomeric CHMP7 mediates three-way ER junctions and
            ER-mitochondria interactions
  JOURNAL   Cell Death Differ 30 (1), 94-110 (2023)
   PUBMED   35962186
  REMARK    GeneRIF: Oligomeric CHMP7 mediates three-way ER junctions and
            ER-mitochondria interactions.
REFERENCE   3  (bases 1 to 3410)
  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 3410)
  AUTHORS   Coyne,A.N., Baskerville,V., Zaepfel,B.L., Dickson,D.W., Rigo,F.,
            Bennett,F., Lusk,C.P. and Rothstein,J.D.
  TITLE     Nuclear accumulation of CHMP7 initiates nuclear pore complex injury
            and subsequent TDP-43 dysfunction in sporadic and familial ALS
  JOURNAL   Sci Transl Med 13 (604) (2021)
   PUBMED   34321318
  REMARK    GeneRIF: Nuclear accumulation of CHMP7 initiates nuclear pore
            complex injury and subsequent TDP-43 dysfunction in sporadic and
            familial ALS.
REFERENCE   5  (bases 1 to 3410)
  AUTHORS   Gatta,A.T., Olmos,Y., Stoten,C.L., Chen,Q., Rosenthal,P.B. and
            Carlton,J.G.
  TITLE     CDK1 controls CHMP7-dependent nuclear envelope reformation
  JOURNAL   Elife 10, e59999 (2021)
   PUBMED   34286694
  REMARK    GeneRIF: CDK1 controls CHMP7-dependent nuclear envelope
            reformation.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3410)
  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   7  (bases 1 to 3410)
  AUTHORS   Horii,M., Shibata,H., Kobayashi,R., Katoh,K., Yorikawa,C.,
            Yasuda,J. and Maki,M.
  TITLE     CHMP7, a novel ESCRT-III-related protein, associates with CHMP4b
            and functions in the endosomal sorting pathway
  JOURNAL   Biochem J 400 (1), 23-32 (2006)
   PUBMED   16856878
  REMARK    GeneRIF: Results suggest that CHMP7, a novel CHMP4-associated
            ESCRT-III-related protein, functions in the endosomal sorting
            pathway.
REFERENCE   8  (bases 1 to 3410)
  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
REFERENCE   9  (bases 1 to 3410)
  AUTHORS   Azmi,I., Davies,B., Dimaano,C., Payne,J., Eckert,D., Babst,M. and
            Katzmann,D.J.
  TITLE     Recycling of ESCRTs by the AAA-ATPase Vps4 is regulated by a
            conserved VSL region in Vta1
  JOURNAL   J Cell Biol 172 (5), 705-717 (2006)
   PUBMED   16505166
REFERENCE   10 (bases 1 to 3410)
  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     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK097202.1, BC042050.1, DB140277.1 and AL833843.1.
            
            On Nov 23, 2018 this sequence version replaced NM_152272.4.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest 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 :: AK097202.1, BC042050.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000397677.6/ ENSP00000380794.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-19                AK097202.1         1-19
            20-312              BC042050.1         1-293
            313-627             DB140277.1         240-554
            628-3102            BC042050.1         609-3083
            3103-3410           AL833843.1         2503-2810
FEATURES             Location/Qualifiers
     source          1..3410
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p21.3"
     gene            1..3410
                     /gene="CHMP7"
                     /note="charged multivesicular body protein 7"
                     /db_xref="GeneID:91782"
                     /db_xref="HGNC:HGNC:28439"
                     /db_xref="MIM:611130"
     exon            1..208
                     /gene="CHMP7"
                     /inference="alignment:Splign:2.1.0"
     exon            209..947
                     /gene="CHMP7"
                     /inference="alignment:Splign:2.1.0"
     CDS             649..2010
                     /gene="CHMP7"
                     /note="isoform 1 is encoded by transcript variant 1;
                     chromatin-modifying protein 7; CHMP family, member 7"
                     /codon_start=1
                     /product="charged multivesicular body protein 7 isoform 1"
                     /protein_id="NP_689485.1"
                     /db_xref="CCDS:CCDS6040.1"
                     /db_xref="GeneID:91782"
                     /db_xref="HGNC:HGNC:28439"
                     /db_xref="MIM:611130"
                     /translation="MWSPEREAEAPAGGDPAGLLPPEWEEDEERMSFLFSAFKRSREV
                     NSTDWDSKMGFWAPLVLSHSRRQGVVRLRLRDLQEAFQRKGSVPLGLATVLQDLLRRG
                     ELQRESDFMASVDSSWISWGVGVFLLKPLKWTLSNMLGDNKVPAEEVLVAVELLKEKA
                     EEVYRLYQNSPLSSHPVVALSELSTLCANSCPDERTFYLVLLQLQKEKRVTVLEQNGE
                     KIVKFARGPRAKVSPVNDVDVGVYQLMQSEQLLSRKVESLSQEAERCKEEARRACRAG
                     KKQLALRSLKAKQRTEKRIEALHAKLDTVQGILDRIYASQTDQMVFNAYQAGVGALKL
                     SMKDVTVEKAESLVDQIQELCDTQDEVSQTLAGGVTNGLDFDSEELEKELDILLQDTT
                     KEPLDLPDNPRNRHFTNSVPNPRISDAELEAELEKLSLSEGGLVPSSKSPKRQLEPTL
                     KPL"
     exon            948..1119
                     /gene="CHMP7"
                     /inference="alignment:Splign:2.1.0"
     exon            1120..1305
                     /gene="CHMP7"
                     /inference="alignment:Splign:2.1.0"
     exon            1306..1439
                     /gene="CHMP7"
                     /inference="alignment:Splign:2.1.0"
     exon            1440..1488
                     /gene="CHMP7"
                     /inference="alignment:Splign:2.1.0"
     exon            1489..1608
                     /gene="CHMP7"
                     /inference="alignment:Splign:2.1.0"
     exon            1609..1707
                     /gene="CHMP7"
                     /inference="alignment:Splign:2.1.0"
     exon            1708..1768
                     /gene="CHMP7"
                     /inference="alignment:Splign:2.1.0"
     exon            1769..1948
                     /gene="CHMP7"
                     /inference="alignment:Splign:2.1.0"
     exon            1949..3410
                     /gene="CHMP7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3388..3393
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHMP7"
                     /note="hexamer: ATTAAA"
     polyA_site      3410
                     /gene="CHMP7"
                     /note="major polyA site"
ORIGIN      
        1 gctgcctcct ctgactgtta tgcagcaggc cggcaggtca ataaacttgc ttgcctgact
       61 ttgagtatac tcgtcttttc tcttggccaa ccttacggta gctgtaccag tttgcatttc
      121 caccagcaat gaatgagagt tcctgttgct ctgcatcctc accagcattt ggtgtggtca
      181 gtattttgga ttttcaccat tctaatagag attcacggat ccatccgggt ggtccgggca
      241 ccactggcgc ccctctgcgg ctattcccca gttccatttt ctgaagccac aggtcagaag
      301 ccgctgtaca acgctttgcc gaactccaga atcttgaagg agacgtaagg tgcagccacc
      361 tgccgcgcag gcgcaagcct ttctttcggc acaaagaccg tgggaggagg ggtcggcgca
      421 agcgctcggt gtctctctga aaagaacttc atcatactgc ctcctggctg acggagcgca
      481 gcgcaacgca tgcgccttga agacttatgg aacttatttc acgctcaggg cggcggtgac
      541 gtgtgaacga gaaggaggtg gtcaaggaac ggaagccggg agggaacgag ggcggaagcg
      601 gaccagggcc aggcttgtgt tcgcagcctt gccggggctg gggttccgat gtggtccccg
      661 gagcgggagg ccgaggcccc agccggggga gacccggcgg gccttctgcc ccccgagtgg
      721 gaggaggacg aggagcgcat gtccttcctg ttctccgctt tcaagaggag tcgcgaggtg
      781 aacagcaccg actgggacag caagatgggc ttctgggcgc cgttggtgct gagccacagc
      841 cgccgccagg gggtggtgcg cctgcgtctg cgggacttgc aggaggcctt tcagcgcaag
      901 gggagcgtcc cgctggggct ggccacggtg ctgcaggacc tgctgcgtcg aggggagctg
      961 cagcgggagt cagacttcat ggccagtgta gacagcagct ggatctcctg gggggttggg
     1021 gtcttcctgc tgaagcctct caagtggact ctttctaaca tgctgggaga taataaggtt
     1081 ccagctgagg aggtccttgt cgctgtggag ctgttgaagg aaaaggctga ggaggtgtat
     1141 cgtctgtatc agaactcgcc cctctcctcc caccccgtgg tggccctgtc agagctcagc
     1201 accctctgtg ctaactcctg cccagatgag aggaccttct acttggtgtt gctgcagctg
     1261 cagaaggaga agagggtcac agtcctcgag cagaacgggg agaagattgt gaagtttgcc
     1321 cgagggccac gtgccaaggt ctctccagtc aatgacgtag atgttggggt gtaccagctg
     1381 atgcagagtg aacagcttct ctcacgcaaa gtggagtcct tatcccagga agcagagagg
     1441 tgtaaagaag aagcccgccg ggcatgccga gcaggaaaga agcagctggc actgaggtct
     1501 ctcaaggcca agcaacggac agagaagcgc atcgaggcct tgcatgccaa gctggacact
     1561 gttcaaggca tcctggaccg gatctatgcc tcccagacag atcagatggt ttttaacgcc
     1621 taccaggctg gggtaggagc actcaaactc tccatgaagg atgtcacagt ggagaaggca
     1681 gagagcctcg tggatcagat ccaagagctc tgtgacaccc aggatgaagt ttctcagact
     1741 ctggctggtg gggtaacaaa tggcttagat tttgacagtg aagaactgga gaaggaattg
     1801 gacatcctcc ttcaggatac caccaaagaa cctttggatc tgcctgacaa cccccgcaat
     1861 aggcatttta ccaacagcgt gcctaaccct aggatctcag atgctgaact tgaagctgaa
     1921 cttgagaaac tgtccttatc agagggaggt ttggtcccaa gcagtaaatc tccaaaaagg
     1981 caattggaac cgactctaaa gccattgtag gaccctcaag tgaaggaccc tcatgtaaaa
     2041 gagagaccag gcttgctggg tgtgtacata gttatttaaa caagaaactc tcagaatgtg
     2101 tttggaagag gagaaaggag aaccactgat tttatctgga tgctactact tactacagga
     2161 cagatagaat ttctggaagc gatgctccaa aggcttgctc ccagctgtat catggacctg
     2221 ccttctcatc tttatagtgc cacgatttat acagtcctgt gtctgacctg tcatttcata
     2281 gcctgcagtt cttgccattg gcacacttag atttgtcttc acccaccagc ttcgttccag
     2341 cccatgaagg ggaaagattt gcagctttgc caaatctgaa tcagttccca ctcccccctg
     2401 cggtttttta gaggggttta tcctgtcgct aatgtcagtt aaatagctta ttcctgtccc
     2461 acttgatttc actggtaaga atgagaatga aatacttaaa ggttttattt gaggggactt
     2521 agctgccatt ttatggaaaa acatgtagta taaaaggttt ttctccaggg tcatttgaca
     2581 gaattctcca ggtgttcaga gaaagaggtc gccccaagtg gcccagagtc gtgacagtcc
     2641 ggaggggctg gtgtggccgg tgggcgctgc ctcttcatct gatggagcca ggaggtccgc
     2701 cggtggggga aaggcttctt ccgaggcttc tgcactcgcc tgggaagagg cccagtcact
     2761 acaggaccct gagatgtcca gaccccttat gcaaagaggc aaaattgttg ccttggcccc
     2821 atcatggagt aacttaaaaa tacatatcta tcttccagaa caagccacac aacaacacac
     2881 ctcccctcct tgagcctggc acacagcacc gggctctctg aatttggaaa gtgtttcatt
     2941 ttgtggccta ctgctcgggg caggggggct gagccaggat gtgcaataga agcaggggtt
     3001 gtcccctctg ccagatctgt ggggagctgc ccaggccacc cgtgcacctg tcctgcttcc
     3061 tgcagtcccc actccctgcc tcctttgagg gactggggga cttggggtag ggggacagac
     3121 gggaaagggt ctgaatgctc tggcaatggc gagaagaagc gatcgccaca ctgccactct
     3181 gctgcccagc caccaggatt tctgcctgga gccctttgcc ctgtccctgc tgcctgaggt
     3241 ggcgtagagc agaggagaag aatttgctcc aggccaggag cacaaatcgt tgttcaatga
     3301 atttctctcc aactcgacct tggtaaacgg aaatgttggg ggtgaagaga aacaatcact
     3361 atttttttct tttttatctg gtaaataatt aaaagaaaaa ccgaacactt
//
