LOCUS       NM_002768               2342 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens charged multivesicular body protein 1A (CHMP1A),
            transcript variant 2, mRNA.
ACCESSION   NM_002768
VERSION     NM_002768.5
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 2342)
  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   2  (bases 1 to 2342)
  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   3  (bases 1 to 2342)
  AUTHORS   Guan,Y., Liang,X., Ma,Z., Hu,H., Liu,H., Miao,Z., Linkermann,A.,
            Hellwege,J.N., Voight,B.F. and Susztak,K.
  TITLE     A single genetic locus controls both expression of DPEP1/CHMP1A and
            kidney disease development via ferroptosis
  JOURNAL   Nat Commun 12 (1), 5078 (2021)
   PUBMED   34426578
  REMARK    GeneRIF: A single genetic locus controls both expression of
            DPEP1/CHMP1A and kidney disease development via ferroptosis.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2342)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   5  (bases 1 to 2342)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   6  (bases 1 to 2342)
  AUTHORS   Tong,W.Y., Nagano-Fujii,M., Hidajat,R., Deng,L., Takigawa,Y. and
            Hotta,H.
  TITLE     Physical interaction between hepatitis C virus NS4B protein and
            CREB-RP/ATF6beta
  JOURNAL   Biochem Biophys Res Commun 299 (3), 366-372 (2002)
   PUBMED   12445808
REFERENCE   7  (bases 1 to 2342)
  AUTHORS   Howard,T.L., Stauffer,D.R., Degnin,C.R. and Hollenberg,S.M.
  TITLE     CHMP1 functions as a member of a newly defined family of vesicle
            trafficking proteins
  JOURNAL   J Cell Sci 114 (Pt 13), 2395-2404 (2001)
   PUBMED   11559748
REFERENCE   8  (bases 1 to 2342)
  AUTHORS   Stauffer,D.R., Howard,T.L., Nyun,T. and Hollenberg,S.M.
  TITLE     CHMP1 is a novel nuclear matrix protein affecting chromatin
            structure and cell-cycle progression
  JOURNAL   J Cell Sci 114 (Pt 13), 2383-2393 (2001)
   PUBMED   11559747
REFERENCE   9  (bases 1 to 2342)
  AUTHORS   Yoshida,H., Haze,K., Yanagi,H., Yura,T. and Mori,K.
  TITLE     Identification of the cis-acting endoplasmic reticulum stress
            response element responsible for transcriptional induction of
            mammalian glucose-regulated proteins. Involvement of basic leucine
            zipper transcription factors
  JOURNAL   J Biol Chem 273 (50), 33741-33749 (1998)
   PUBMED   9837962
  REMARK    Erratum:[J Biol Chem 1999 Jan 22;274(4):2592]
REFERENCE   10 (bases 1 to 2342)
  AUTHORS   Scott,I.C., Halila,R., Jenkins,J.M., Mehan,S., Apostolou,S.,
            Winqvist,R., Callen,D.F., Prockop,D.J., Peltonen,L. and Kadler,K.E.
  TITLE     Molecular cloning, expression and chromosomal localization of a
            human gene encoding a 33 kDa putative metallopeptidase (PRSM1)
  JOURNAL   Gene 174 (1), 135-143 (1996)
   PUBMED   8863740
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY008690.1 and BC007527.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_002768.4.
            
            Summary: This gene encodes a member of the CHMP/Chmp family of
            proteins which are involved in multivesicular body sorting of
            proteins to the interiors of lysosomes. The initial prediction of
            the protein sequence encoded by this gene suggested that the
            encoded protein was a metallopeptidase. The nomenclature has been
            updated recently to reflect the correct biological function of this
            encoded protein. Several transcripts encoding different isoforms
            have been found for this gene. [provided by RefSeq, Dec 2012].
            
            Transcript Variant: This variant (2) encodes the functionally
            supported isoform (2).
            
            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 :: SRR3476690.610555.1, U58048.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000397901.8/ ENSP00000380998.3
            RefSeq Select criteria :: based on expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-85                HY008690.1         78-162
            86-2342             BC007527.1         1-2257
FEATURES             Location/Qualifiers
     source          1..2342
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q24.3"
     gene            1..2342
                     /gene="CHMP1A"
                     /gene_synonym="CHMP1; PCH8; PCOLN3; PRSM1; VPS46-1;
                     VPS46A"
                     /note="charged multivesicular body protein 1A"
                     /db_xref="GeneID:5119"
                     /db_xref="HGNC:HGNC:8740"
                     /db_xref="MIM:164010"
     exon            1..127
                     /gene="CHMP1A"
                     /gene_synonym="CHMP1; PCH8; PCOLN3; PRSM1; VPS46-1;
                     VPS46A"
                     /inference="alignment:Splign:2.1.0"
     CDS             121..711
                     /gene="CHMP1A"
                     /gene_synonym="CHMP1; PCH8; PCOLN3; PRSM1; VPS46-1;
                     VPS46A"
                     /note="isoform 2 is encoded by transcript variant 2;
                     procollagen (type III) N-endopeptidase; protease, metallo,
                     1, 33kD; charged multivesicular body protein 1/chromatin
                     modifying protein 1; vacuolar protein sorting-associated
                     protein 46-1; VPS46 homolog A; chromatin modifying protein
                     1A"
                     /codon_start=1
                     /product="charged multivesicular body protein 1a isoform
                     2"
                     /protein_id="NP_002759.2"
                     /db_xref="CCDS:CCDS45552.1"
                     /db_xref="GeneID:5119"
                     /db_xref="HGNC:HGNC:8740"
                     /db_xref="MIM:164010"
                     /translation="MDDTLFQLKFTAKQLEKLAKKAEKDSKAEQAKVKKALLQKNVEC
                     ARVYAENAIRKKNEGVNWLRMASRVDAVASKVQTAVTMKGVTKNMAQVTKALDKALST
                     MDLQKVSSVMDRFEQQVQNLDVHTSVMEDSMSSATTLTTPQEQVDSLIMQIAEENGLE
                     VLDQLSQLPEGASAVGESSVRSQEDQLSRRLAALRN"
     exon            128..147
                     /gene="CHMP1A"
                     /gene_synonym="CHMP1; PCH8; PCOLN3; PRSM1; VPS46-1;
                     VPS46A"
                     /inference="alignment:Splign:2.1.0"
     exon            148..225
                     /gene="CHMP1A"
                     /gene_synonym="CHMP1; PCH8; PCOLN3; PRSM1; VPS46-1;
                     VPS46A"
                     /inference="alignment:Splign:2.1.0"
     exon            226..372
                     /gene="CHMP1A"
                     /gene_synonym="CHMP1; PCH8; PCOLN3; PRSM1; VPS46-1;
                     VPS46A"
                     /inference="alignment:Splign:2.1.0"
     exon            373..501
                     /gene="CHMP1A"
                     /gene_synonym="CHMP1; PCH8; PCOLN3; PRSM1; VPS46-1;
                     VPS46A"
                     /inference="alignment:Splign:2.1.0"
     exon            502..689
                     /gene="CHMP1A"
                     /gene_synonym="CHMP1; PCH8; PCOLN3; PRSM1; VPS46-1;
                     VPS46A"
                     /inference="alignment:Splign:2.1.0"
     exon            690..2342
                     /gene="CHMP1A"
                     /gene_synonym="CHMP1; PCH8; PCOLN3; PRSM1; VPS46-1;
                     VPS46A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2323..2328
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHMP1A"
                     /gene_synonym="CHMP1; PCH8; PCOLN3; PRSM1; VPS46-1;
                     VPS46A"
                     /note="hexamer: AACAAA"
     polyA_site      2342
                     /gene="CHMP1A"
                     /gene_synonym="CHMP1; PCH8; PCOLN3; PRSM1; VPS46-1;
                     VPS46A"
                     /note="major polyA site"
ORIGIN      
        1 ggcgaccccg gaagtccccg ccgggtgcag cttggtcggt tcgatcgccg ccgggacctg
       61 acaccgcccg gagttggcgt cccttctccc tctccgagtg ctgctcctgt cattgtggcc
      121 atggacgata ccctgttcca gttgaagttc acggcgaagc agctggagaa gctggccaag
      181 aaggcggaga aggactccaa ggcggagcag gccaaagtga agaaggccct tctgcagaaa
      241 aatgtagagt gtgcccgtgt gtatgccgag aacgccatcc gcaagaagaa cgaaggtgtg
      301 aactggcttc ggatggcgtc ccgcgtagac gcagtggcct ccaaggtgca gacagctgtg
      361 actatgaagg gggtgaccaa gaatatggcc caggtgacca aagccctgga caaggccctg
      421 agcaccatgg acctgcagaa ggtctcctca gtgatggaca ggttcgagca gcaggtgcag
      481 aacctggacg tccatacatc ggtgatggag gactccatga gctcggccac caccctgacc
      541 acgccgcagg agcaggtgga cagcctcatc atgcagatcg ccgaggagaa tggcctggag
      601 gtgctggacc agctcagcca gctgcccgag ggcgcctctg ccgtgggcga gagctctgtg
      661 cgcagccagg aggaccagct gtcacggagg ttggccgcct tgaggaacta gccgtgcccc
      721 gccggtgtgc accgcctctg ccccgtgatg tgctggaagg ctcctgtcct ctccccaccg
      781 cgtcttgcct ttgtgctgac cccgcggggc tgcggccggc agccactctg cgtctctcac
      841 ctgccaggcc tgcgtggcct tagggttgtt cctgttcttt taggttgggc ggtgggtctg
      901 tgtcctggtg ttgagtttct gcaaatttct gggggtgatt tctgtgactc tgggcccaca
      961 gcggggaggc caagaggggc cctgtggact ttcacccagc actgtggggg ccttcagact
     1021 ctggggcagc agacatgctg cttcccatca gccagagggg gtcagggctg ccctgttgcc
     1081 aaacaactcc ctgaggcctc tccgcaccac ctcagcgggc aggaggtccc accatgtgga
     1141 cagacatagc ccaaggaggc accacaggtc tatgtgtgct gggggatgtc aggtgccacc
     1201 caacgctgtc ctggtggtat ttacaatgac atcctcctcc tccatcactc caggggtggt
     1261 gtctcggccg cccctaccag ctggctgagc cccctggcct cctgcgctcc ctcacttccc
     1321 tcagttccca aagctgccca gtccatgggg acagaaccgt cactcagatc cacattcaag
     1381 tgtgcccacc ctgcagtctt catcctcact cagctgctgc ctctggaggt gcctttggcc
     1441 acatgtgctg tgctgtttgt ctcctcgaca gggagcctgt ccaccagcag gctgcggtcc
     1501 cagcgggtgc gtctgcagct cctccccttg ggcagcctgg ttctcccgga ggacctttcc
     1561 ttggggccct gcttcatgac gatgctgcct gtgtcaccct ctaccatctg taaacaactg
     1621 ggtgccttcc ccgaccacac cccaatgcct tcccagcttg gaagccaagg cagctgatga
     1681 agggagctca ggagagccgt cttcagctgg gctggggttg gggctgctgt gaggaaaacc
     1741 tgccattgtg gccctggaga gtcaccagca gctcttggga aggacttgct gggaggctga
     1801 gagaggcttt gggcacagcc tgctgtcttt tccatttcct aaagtttact tcattgtctt
     1861 gaggcttcca ggttttgttt ttgtttttgc caaagtagaa aaggcaggtg gtgggcggct
     1921 ggcagggagt gcgggtcccc gcccctcttc agtcctgccc tcccctcctc agtcctgccc
     1981 accccgtgca gcccatgctg aggctgcagt ggtgtcgtgg gtgttacgtg caggaacgtg
     2041 gagaccctga cgtgggctca ctgcgtttgg ttttcttttc agaacttggg agcccccagg
     2101 gaggggctag tgttggtagg tcctagacgt ggttccctcc agcctcccca aaatcaaccc
     2161 tggtgttgag agaacgtcct tctgtccatc gtgggtaaca gccttgggga gggtgcagag
     2221 ctctgcagag ccatgggcca ggtggggctg cctcagtcct gtccccttgg gcactgagga
     2281 gaggggccca ttcacctttc tcctagaatg ctgttgtaaa taaacaaatg gatccctgga
     2341 aa
//
