LOCUS       NM_021729               3181 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens VPS11 core subunit of CORVET and HOPS complexes
            (VPS11), transcript variant 1, mRNA.
ACCESSION   NM_021729
VERSION     NM_021729.6
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 3181)
  AUTHORS   Luo,D., Wu,J., Liu,Y., Li,P., Liang,X., Xiao,S., Qi,Z., Liu,T. and
            Pan,J.
  TITLE     Overexpression of VPS11 antagonizes the promoting effect of
            miR-542-3p on Mycobacterium tuberculosis survival in macrophages by
            regulating autophagy
  JOURNAL   Microb Pathog 169, 105609 (2022)
   PUBMED   35662671
  REMARK    GeneRIF: Overexpression of VPS11 antagonizes the promoting effect
            of miR-542-3p on Mycobacterium tuberculosis survival in macrophages
            by regulating autophagy.
REFERENCE   2  (bases 1 to 3181)
  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 3181)
  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   4  (bases 1 to 3181)
  AUTHORS   Monfrini,E., Cogiamanian,F., Salani,S., Straniero,L., Fagiolari,G.,
            Garbellini,M., Carsana,E., Borellini,L., Biella,F., Moggio,M.,
            Bresolin,N., Corti,S., Duga,S., Comi,G.P., Aureli,M. and Di
            Fonzo,A.
  TITLE     A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia
  JOURNAL   Ann Neurol 89 (4), 834-839 (2021)
   PUBMED   33452836
  REMARK    GeneRIF: A Novel Homozygous VPS11 Variant May Cause Generalized
            Dystonia.
REFERENCE   5  (bases 1 to 3181)
  AUTHORS   Miao,G., Zhao,H., Li,Y., Ji,M., Chen,Y., Shi,Y., Bi,Y., Wang,P. and
            Zhang,H.
  TITLE     ORF3a of the COVID-19 virus SARS-CoV-2 blocks HOPS complex-mediated
            assembly of the SNARE complex required for autolysosome formation
  JOURNAL   Dev Cell 56 (4), 427-442 (2021)
   PUBMED   33422265
REFERENCE   6  (bases 1 to 3181)
  AUTHORS   Wan,D., Gong,Y., Qin,W., Zhang,P., Li,J., Wei,L., Zhou,X., Li,H.,
            Qiu,X., Zhong,F., He,L., Yu,J., Yao,G., Jiang,H., Qian,L., Yu,Y.,
            Shu,H., Chen,X., Xu,H., Guo,M., Pan,Z., Chen,Y., Ge,C., Yang,S. and
            Gu,J.
  TITLE     Large-scale cDNA transfection screening for genes related to cancer
            development and progression
  JOURNAL   Proc Natl Acad Sci U S A 101 (44), 15724-15729 (2004)
   PUBMED   15498874
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 Dec 14:101(50):17565]
REFERENCE   7  (bases 1 to 3181)
  AUTHORS   Lehner,B. and Sanderson,C.M.
  TITLE     A protein interaction framework for human mRNA degradation
  JOURNAL   Genome Res 14 (7), 1315-1323 (2004)
   PUBMED   15231747
REFERENCE   8  (bases 1 to 3181)
  AUTHORS   Kim,B.Y., Ueda,M., Kominami,E., Akagawa,K., Kohsaka,S. and
            Akazawa,C.
  TITLE     Identification of mouse Vps16 and biochemical characterization of
            mammalian class C Vps complex
  JOURNAL   Biochem Biophys Res Commun 311 (3), 577-582 (2003)
   PUBMED   14623309
REFERENCE   9  (bases 1 to 3181)
  AUTHORS   Kim,B.Y., Kramer,H., Yamamoto,A., Kominami,E., Kohsaka,S. and
            Akazawa,C.
  TITLE     Molecular characterization of mammalian homologues of class C Vps
            proteins that interact with syntaxin-7
  JOURNAL   J Biol Chem 276 (31), 29393-29402 (2001)
   PUBMED   11382755
REFERENCE   10 (bases 1 to 3181)
  AUTHORS   Huizing,M., Didier,A., Walenta,J., Anikster,Y., Gahl,W.A. and
            Kramer,H.
  TITLE     Molecular cloning and characterization of human VPS18, VPS 11,
            VPS16, and VPS33
  JOURNAL   Gene 264 (2), 241-247 (2001)
   PUBMED   11250079
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP003392.2 and KF511489.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 3, 2020 this sequence version replaced NM_021729.5.
            
            Summary: Vesicle mediated protein sorting plays an important role
            in segregation of intracellular molecules into distinct organelles.
            Genetic studies in yeast have identified more than 40 vacuolar
            protein sorting (VPS) genes involved in vesicle transport to
            vacuoles. This gene encodes the human homolog of yeast class C
            Vps11 protein. The mammalian class C Vps proteins are predominantly
            associated with late endosomes/lysosomes, and like their yeast
            counterparts, may mediate vesicle trafficking steps in the
            endosome/lysosome pathway. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Feb 2014].
            
            Transcript Variant: This variant (1) encodes 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 :: BC065563.1, AK223158.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000621676.5/ ENSP00000481126.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-193               AP003392.2         158884-159076
            194-342             KF511489.1         76-224              c
            343-478             AP003392.2         160507-160642
            479-642             AP003392.2         161299-161462
            643-890             AP003392.2         162661-162908
            891-1092            AP003392.2         164263-164464
            1093-1244           AP003392.2         164865-165016
            1245-1431           AP003392.2         167962-168148
            1432-1578           AP003392.2         168566-168712
            1579-1767           AP003392.2         168943-169131
            1768-1929           AP003392.2         169238-169399
            1930-2069           AP003392.2         169630-169769
            2070-2272           AP003392.2         169860-170062
            2273-2444           AP003392.2         170194-170365
            2445-2667           AP003392.2         172157-172379
            2668-3181           AP003392.2         172524-173037
FEATURES             Location/Qualifiers
     source          1..3181
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.3"
     gene            1..3181
                     /gene="VPS11"
                     /gene_synonym="DYT32; END1; HLD12; hVPS11; PEP5; RNF108"
                     /note="VPS11 core subunit of CORVET and HOPS complexes"
                     /db_xref="GeneID:55823"
                     /db_xref="HGNC:HGNC:14583"
                     /db_xref="MIM:608549"
     exon            1..193
                     /gene="VPS11"
                     /gene_synonym="DYT32; END1; HLD12; hVPS11; PEP5; RNF108"
                     /inference="alignment:Splign:2.1.0"
     CDS             7..2832
                     /gene="VPS11"
                     /gene_synonym="DYT32; END1; HLD12; hVPS11; PEP5; RNF108"
                     /note="isoform 1 is encoded by transcript variant 1;
                     vacuolar protein sorting-associated protein 11 homolog;
                     RING finger protein 108; vacuolar protein sorting 11
                     homolog; VPS11, CORVET/HOPS core subunit"
                     /codon_start=1
                     /product="vacuolar protein sorting-associated protein 11
                     homolog isoform 1"
                     /protein_id="NP_068375.3"
                     /db_xref="CCDS:CCDS73404.1"
                     /db_xref="GeneID:55823"
                     /db_xref="HGNC:HGNC:14583"
                     /db_xref="MIM:608549"
                     /translation="MAAYLQWRRFVFFDKELVKEPLSNDGAAPGATPASGSAASKFLC
                     LPPGITVCDSGRGSLVFGDMEGQIWFLPRSLQLTGFQAYKLRVTHLYQLKQHNILASV
                     GEDEEGINPLVKIWNLEKRDGGNPLCTRIFPAIPGTEPTVVSCLTVHENLNFMAIGFT
                     DGSVTLNKGDITRDRHSKTQILHKGNYPVTGLAFRQAGKTTHLFVVTTENVQSYIVSG
                     KDYPRVELDTHGCGLRCSALSDPSQDLQFIVAGDECVYLYQPDERGPCFAFEGHKLIA
                     HWFRGYLIIVSRDRKVSPKSEFTSRDSQSSDKQILNIYDLCNKFIAYSTVFEDVVDVL
                     AEWGSLYVLTRDGRVHALQEKDTQTKLEMLFKKNLFEMAINLAKSQHLDSDGLAQIFM
                     QYGDHLYSKGNHDGAVQQYIRTIGKLEPSYVIRKFLDAQRIHNLTAYLQTLHRQSLAN
                     ADHTTLLLNCYTKLKDSSKLEEFIKKKSESEVHFDVETAIKVLRQAGYYSHALYLAEN
                     HAHHEWYLKIQLEDIKNYQEALRYIGKLPFEQAESNMKRYGKILMHHIPEQTTQLLKG
                     LCTDYRPSLEGRSDREAPGCRANSEEFIPIFANNPRELKAFLEHMSEVQPDSPQGIYD
                     TLLELRLQNWAHEKDPQVKEKLHAEAISLLKSGRFCDVFDKALVLCQMHDFQDGVLYL
                     YEQGKLFQQIMHYHMQHEQYRQVISVCERHGEQDPSLWEQALSYFARKEEDCKEYVAA
                     VLKHIENKNLMPPLLVVQTLAHNSTATLSVIRDYLVQKLQKQSQQIAQDELRVRRYRE
                     ETTRIRQEIQELKASPKIFQKTKCSICNSALELPSVHFLCGHSFHQHCFESYSESDAD
                     CPTCLPENRKVMDMIRAQEQKRDLHDQFQHQLKCSNDSFSVIADYFGRGVFNKLTLLT
                     DPPTARLTSSLEAGLQRDLLMHSRRGT"
     exon            194..342
                     /gene="VPS11"
                     /gene_synonym="DYT32; END1; HLD12; hVPS11; PEP5; RNF108"
                     /inference="alignment:Splign:2.1.0"
     exon            343..478
                     /gene="VPS11"
                     /gene_synonym="DYT32; END1; HLD12; hVPS11; PEP5; RNF108"
                     /inference="alignment:Splign:2.1.0"
     exon            479..642
                     /gene="VPS11"
                     /gene_synonym="DYT32; END1; HLD12; hVPS11; PEP5; RNF108"
                     /inference="alignment:Splign:2.1.0"
     exon            643..890
                     /gene="VPS11"
                     /gene_synonym="DYT32; END1; HLD12; hVPS11; PEP5; RNF108"
                     /inference="alignment:Splign:2.1.0"
     exon            891..1092
                     /gene="VPS11"
                     /gene_synonym="DYT32; END1; HLD12; hVPS11; PEP5; RNF108"
                     /inference="alignment:Splign:2.1.0"
     exon            1093..1244
                     /gene="VPS11"
                     /gene_synonym="DYT32; END1; HLD12; hVPS11; PEP5; RNF108"
                     /inference="alignment:Splign:2.1.0"
     exon            1245..1431
                     /gene="VPS11"
                     /gene_synonym="DYT32; END1; HLD12; hVPS11; PEP5; RNF108"
                     /inference="alignment:Splign:2.1.0"
     exon            1432..1578
                     /gene="VPS11"
                     /gene_synonym="DYT32; END1; HLD12; hVPS11; PEP5; RNF108"
                     /inference="alignment:Splign:2.1.0"
     exon            1579..1767
                     /gene="VPS11"
                     /gene_synonym="DYT32; END1; HLD12; hVPS11; PEP5; RNF108"
                     /inference="alignment:Splign:2.1.0"
     exon            1768..1929
                     /gene="VPS11"
                     /gene_synonym="DYT32; END1; HLD12; hVPS11; PEP5; RNF108"
                     /inference="alignment:Splign:2.1.0"
     exon            1930..2069
                     /gene="VPS11"
                     /gene_synonym="DYT32; END1; HLD12; hVPS11; PEP5; RNF108"
                     /inference="alignment:Splign:2.1.0"
     exon            2070..2272
                     /gene="VPS11"
                     /gene_synonym="DYT32; END1; HLD12; hVPS11; PEP5; RNF108"
                     /inference="alignment:Splign:2.1.0"
     exon            2273..2444
                     /gene="VPS11"
                     /gene_synonym="DYT32; END1; HLD12; hVPS11; PEP5; RNF108"
                     /inference="alignment:Splign:2.1.0"
     exon            2445..2667
                     /gene="VPS11"
                     /gene_synonym="DYT32; END1; HLD12; hVPS11; PEP5; RNF108"
                     /inference="alignment:Splign:2.1.0"
     exon            2668..3181
                     /gene="VPS11"
                     /gene_synonym="DYT32; END1; HLD12; hVPS11; PEP5; RNF108"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3157..3162
                     /regulatory_class="polyA_signal_sequence"
                     /gene="VPS11"
                     /gene_synonym="DYT32; END1; HLD12; hVPS11; PEP5; RNF108"
                     /note="hexamer: AATAAA"
     polyA_site      3181
                     /gene="VPS11"
                     /gene_synonym="DYT32; END1; HLD12; hVPS11; PEP5; RNF108"
                     /note="major polyA site"
ORIGIN      
        1 gccaaaatgg cggcctacct gcagtggcgg cgcttcgttt tcttcgacaa ggagctggtg
       61 aaggagccgc tgagcaatga tggggccgct cccggggcca cacctgcttc tggatccgct
      121 gcttccaagt tcctttgcct ccctcctggc atcactgtct gcgactcagg ccgagggagc
      181 ctggtctttg gagatatgga aggccagatc tggttcttgc cacgttccct acagcttaca
      241 ggcttccaag cctacaaact acgggtgaca cacctgtacc aactgaagca gcacaatatt
      301 ctggcatctg ttggagaaga tgaagagggc atcaacccct tggttaagat ctggaacctg
      361 gagaagagag atggtggcaa tccactctgc actcgaatct tccctgctat tccaggaaca
      421 gagccaactg ttgtatcttg tttgactgtc catgaaaatc tcaactttat ggccattggt
      481 ttcacagatg gcagtgttac attgaacaaa ggagacatca cccgggaccg gcatagcaag
      541 acccagattt tgcacaaggg caactatcct gtaactggat tggcctttcg ccaagcagga
      601 aagaccactc acttgtttgt tgtgacaaca gagaacgtcc agtcctatat agtttctgga
      661 aaagactacc ctcgcgtgga gttggacacc catggttgtg gcctgcgctg ctcagcccta
      721 agtgaccctt ctcaggacct gcagttcatt gtggccgggg atgagtgtgt ctacttgtac
      781 cagcctgatg aacgtgggcc ctgcttcgcc tttgagggcc ataagctcat tgcccactgg
      841 tttagaggct accttatcat tgtctcccgt gaccggaagg tttctcccaa gtcagagttt
      901 accagcaggg attcacagag ctccgacaag cagattctaa acatctatga cctgtgcaac
      961 aagttcatag cctatagcac cgtctttgag gatgtagtgg atgtgcttgc tgagtggggc
     1021 tccctgtacg tgctgacgcg ggatgggcgg gtccacgcac tgcaggagaa ggacacacag
     1081 accaaactgg agatgctgtt taagaagaac ctatttgaga tggcgattaa ccttgccaag
     1141 agccagcatc tggacagtga tgggctggcc cagattttca tgcagtatgg agaccatctc
     1201 tacagcaagg gcaaccacga tggggctgtc cagcaatata tccgaaccat tggaaagttg
     1261 gagccatcct acgtgatccg caagtttctg gatgcccagc gcattcacaa cctgactgcc
     1321 tacctgcaga ccctgcaccg acaatccctg gccaatgccg accataccac cctgctcctc
     1381 aactgctata ccaagctcaa ggacagctcg aagctggagg agttcatcaa gaaaaagagt
     1441 gagagtgaag tccactttga tgtggagaca gccatcaagg tcctccggca ggctggctac
     1501 tactcccatg ccctgtatct ggcggagaac catgcacatc atgagtggta cctgaagatc
     1561 cagctagaag acattaagaa ttatcaggaa gcccttcgat acatcggcaa gctgcctttt
     1621 gagcaggcag agagcaacat gaagcgctac ggcaagatcc tcatgcacca cataccagag
     1681 cagacaactc agttgctgaa gggactttgt actgattatc ggcccagcct cgaaggccgc
     1741 agcgataggg aggccccagg ctgcagggcc aactctgagg agttcatccc catctttgcc
     1801 aataacccgc gagagctgaa agccttccta gagcacatga gtgaagtgca gccagactca
     1861 ccccagggga tctacgacac actccttgag ctgcgactgc agaactgggc ccacgagaag
     1921 gatccacagg tcaaagagaa gcttcacgca gaggccattt ccctgctgaa gagtggtcgc
     1981 ttctgcgacg tctttgacaa ggccctggtc ctgtgccaga tgcacgactt ccaggatggt
     2041 gtcctttacc tttatgagca ggggaagctg ttccagcaga tcatgcacta ccacatgcag
     2101 cacgagcagt accggcaggt catcagcgtg tgtgagcgcc atggggagca ggacccctcc
     2161 ttgtgggagc aggccctcag ctacttcgct cgcaaggagg aggactgcaa ggagtatgtg
     2221 gcagctgtcc tcaagcatat cgagaacaag aacctcatgc cacctcttct agtggtgcag
     2281 accctggccc acaactccac agccacactc tccgtcatca gggactacct ggtccaaaaa
     2341 ctacagaaac agagccagca gattgcacag gatgagctgc gggtgcggcg gtaccgagag
     2401 gagaccaccc gtatccgcca ggagatccaa gagctcaagg ccagtcctaa gattttccaa
     2461 aagaccaagt gcagcatctg taacagtgcc ttggagttgc cctcagtcca cttcctgtgt
     2521 ggccactcct tccaccaaca ctgctttgag agttactcgg aaagtgatgc tgactgcccc
     2581 acctgcctcc ctgaaaaccg gaaggtcatg gatatgatcc gggcccagga acagaaacga
     2641 gatctccatg atcaattcca gcatcagctc aagtgctcca atgacagctt ttctgtgatt
     2701 gctgactact ttggcagagg tgttttcaac aaattgactc tgctgaccga ccctcccaca
     2761 gccagactga cctccagcct ggaggctggg ctgcaacgcg acctactcat gcactccagg
     2821 aggggcactt aagcagcctg gaggaagatg tgggcaacag tggaggacca agagaacaga
     2881 cacaatggga cctgggcggg cgttacacag aaggctggct gacatgccca gggctccact
     2941 ctcatctaat gtcacagccc tcagaactaa agcggacttt ctttccctgc cttcttattt
     3001 agtcagcttg ccatccctcc tcttcactag cagtgtagat cattccagat cagtggggga
     3061 gggcacctca gcaacctctg agtgtggaca atagctgctt tcttctctat ccaagagcac
     3121 caggctgtgc ttgggtcctt gctctcagag tctataaata aaagaatata atgatttggg
     3181 a
//
