LOCUS       NM_001363810            5022 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens vacuolar ATPase assembly factor VMA21 (VMA21),
            transcript variant 2, mRNA.
ACCESSION   NM_001363810 XM_011531125
VERSION     NM_001363810.1
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 5022)
  AUTHORS   Cocchiararo,I., Cattaneo,O., Rajendran,J., Chabry,F., Cornut,M.,
            Soldati,H., Bigot,A., Mamchaoui,K., Gibertini,S., Bouche,A.,
            Ham,D.J., Laumonier,T., Prola,A. and Castets,P.
  TITLE     Identification of a muscle-specific isoform of VMA21 as a potent
            actor in X-linked myopathy with excessive autophagy pathogenesis
  JOURNAL   Hum Mol Genet 32 (24), 3374-3389 (2023)
   PUBMED   37756622
  REMARK    GeneRIF: Identification of a muscle-specific isoform of VMA21 as a
            potent actor in X-linked myopathy with excessive autophagy
            pathogenesis.
REFERENCE   2  (bases 1 to 5022)
  AUTHORS   Wang,F., Yang,Y., Boudagh,G., Eskelinen,E.L., Klionsky,D.J. and
            Malek,S.N.
  TITLE     Follicular lymphoma-associated mutations in the V-ATPase chaperone
            VMA21 activate autophagy creating a targetable dependency
  JOURNAL   Autophagy 18 (8), 1982-2000 (2022)
   PUBMED   35287545
  REMARK    GeneRIF: Follicular lymphoma-associated mutations in the V-ATPase
            chaperone VMA21 activate autophagy creating a targetable
            dependency.
REFERENCE   3  (bases 1 to 5022)
  AUTHORS   Shen,H.Y., Shi,L.X., Wang,L., Fang,L.P., Xu,W., Xu,J.Q., Fan,B.Q.
            and Fan,W.F.
  TITLE     Hsa_circ_0001361 facilitates the progress of lung adenocarcinoma
            cells via targeting miR-525-5p/VMA21 axis
  JOURNAL   J Transl Med 19 (1), 389 (2021)
   PUBMED   34507559
  REMARK    GeneRIF: Hsa_circ_0001361 facilitates the progress of lung
            adenocarcinoma cells via targeting miR-525-5p/VMA21 axis.
            Erratum:[J Transl Med. 2021 Nov 25;19(1):476. doi:
            10.1186/s12967-021-03140-6.. PMID: 34823542]
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5022)
  AUTHORS   Wang,Q., Zhang,X. and Chen,D.
  TITLE     circ_VMA21 protects WI-38 cells against LPS-induced apoptotic and
            inflammatory injury by acting on the miR-409-3p/KLF4 axis
  JOURNAL   Gen Physiol Biophys 40 (4), 275-287 (2021)
   PUBMED   34350833
  REMARK    GeneRIF: circ_VMA21 protects WI-38 cells against LPS-induced
            apoptotic and inflammatory injury by acting on the miR-409-3p/KLF4
            axis.
REFERENCE   5  (bases 1 to 5022)
  AUTHORS   Cotta,A., Carvalho,E., da-Cunha-Junior,A.L., Navarro,M.M.,
            Menezes,M.M., Paim,J.F., Valicek,J., Lima,M.I., Velloso-Filho,R.,
            Freire-Lyra,M.H., Takata,R.I., Inoue,M., Okubo,M., Iida,A. and
            Nishino,I.
  TITLE     Clinical, imaging, morphologic, and molecular features of X-linked
            VMA21-related myopathy in two unrelated Brazilian families
  JOURNAL   J Neurol Sci 415, 116977 (2020)
   PUBMED   32535249
  REMARK    GeneRIF: Clinical, imaging, morphologic, and molecular features of
            X-linked VMA21-related myopathy in two unrelated Brazilian
            families.
REFERENCE   6  (bases 1 to 5022)
  AUTHORS   Hirano,M. and DiMauro,S.
  TITLE     VMA21 deficiency: a case of myocyte indigestion
  JOURNAL   Cell 137 (2), 213-215 (2009)
   PUBMED   19379689
REFERENCE   7  (bases 1 to 5022)
  AUTHORS   Sugie,K., Noguchi,S., Kozuka,Y., Arikawa-Hirasawa,E., Tanaka,M.,
            Yan,C., Saftig,P., von Figura,K., Hirano,M., Ueno,S., Nonaka,I. and
            Nishino,I.
  TITLE     Autophagic vacuoles with sarcolemmal features delineate Danon
            disease and related myopathies
  JOURNAL   J Neuropathol Exp Neurol 64 (6), 513-522 (2005)
   PUBMED   15977643
REFERENCE   8  (bases 1 to 5022)
  AUTHORS   Auranen,M., Villanova,M., Muntoni,F., Fardeau,M., Scherer,S.W.,
            Kalino,H. and Minassian,B.A.
  TITLE     X-linked vacuolar myopathies: two separate loci and refined genetic
            mapping
  JOURNAL   Ann Neurol 47 (5), 666-669 (2000)
   PUBMED   10805342
REFERENCE   9  (bases 1 to 5022)
  AUTHORS   Villard,L., des Portes,V., Levy,N., Louboutin,J.P., Recan,D.,
            Coquet,M., Chabrol,B., Figarella-Branger,D., Chelly,J.,
            Pellissier,J.F. and Fontes,M.
  TITLE     Linkage of X-linked myopathy with excessive autophagy (XMEA) to
            Xq28
  JOURNAL   Eur J Hum Genet 8 (2), 125-129 (2000)
   PUBMED   10757644
REFERENCE   10 (bases 1 to 5022)
  AUTHORS   Saviranta,P., Lindlof,M., Lehesjoki,A.E., Kalimo,H., Lang,H.,
            Sonninen,V., Savontaus,M.L. and de la Chapelle,A.
  TITLE     Linkage studies in a new X-linked myopathy, suggesting exclusion of
            DMD locus and tentative assignment to distal Xq
  JOURNAL   Am J Hum Genet 42 (1), 84-88 (1988)
   PUBMED   2892402
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF003627.3.
            
            On Jun 3, 2018 this sequence version replaced XM_011531125.2.
            
            Summary: This gene encodes a chaperone for assembly of lysosomal
            vacuolar ATPase.[provided by RefSeq, Jul 2012].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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 :: SRR1803613.7560.1,
                                           SRR1803617.14972.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-463               AF003627.3         28129-28591
            464-573             AF003627.3         35165-35274
            574-5022            AF003627.3         36450-40898
FEATURES             Location/Qualifiers
     source          1..5022
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..5022
                     /gene="VMA21"
                     /gene_synonym="MEAX; XMEA"
                     /note="vacuolar ATPase assembly factor VMA21"
                     /db_xref="GeneID:203547"
                     /db_xref="HGNC:HGNC:22082"
                     /db_xref="MIM:300913"
     exon            1..463
                     /gene="VMA21"
                     /gene_synonym="MEAX; XMEA"
                     /inference="alignment:Splign:2.1.0"
     CDS             246..716
                     /gene="VMA21"
                     /gene_synonym="MEAX; XMEA"
                     /note="isoform 2 is encoded by transcript variant 2;
                     vacuolar ATPase assembly integral membrane protein VMA21;
                     myopathy with excessive autophagy protein; VMA21 vacuolar
                     H+-ATPase homolog; VMA21, vacuolar ATPase assembly factor"
                     /codon_start=1
                     /product="vacuolar ATPase assembly integral membrane
                     protein VMA21 isoform 2"
                     /protein_id="NP_001350739.1"
                     /db_xref="CCDS:CCDS87789.1"
                     /db_xref="GeneID:203547"
                     /db_xref="HGNC:HGNC:22082"
                     /db_xref="MIM:300913"
                     /translation="MLGSPCGPQLSDRDADEDQCSREFRGRRSRRPPRRTMLRGKSRL
                     NVEWLGYSPGLLLEHRPLLAGRTPRSHRRNESSLASTLKTLLFFTALMITVPIGLYFT
                     TKSYIFEGALGMSNRDSYFYAAIVAVVAVHVVLALFVYVAWNEGSRQWREGKQD"
     exon            464..573
                     /gene="VMA21"
                     /gene_synonym="MEAX; XMEA"
                     /inference="alignment:Splign:2.1.0"
     exon            574..5022
                     /gene="VMA21"
                     /gene_synonym="MEAX; XMEA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4998..5003
                     /regulatory_class="polyA_signal_sequence"
                     /gene="VMA21"
                     /gene_synonym="MEAX; XMEA"
                     /note="hexamer: ATTAAA"
     polyA_site      5022
                     /gene="VMA21"
                     /gene_synonym="MEAX; XMEA"
                     /note="major polyA site"
ORIGIN      
        1 attctcagca agagctcttt gaactctgac attctctagt tttacggact cgggtgagtg
       61 ttttaactcc tcccagctgc caagggcttg acttcctacc actgcgggca gtaattaatg
      121 aggcatttat ttgctcaagt agtggcgaaa taatgcgcac tgcttttttg tgttgtcgtc
      181 ggcggaatac gctcagttgc ctagcaccac agccctctgg ctggtagtcc ctcttcgcgg
      241 ctcatatgct cgggtctcct tgcggccccc agctcagcga ccgagacgca gacgaggacc
      301 agtgttcacg cgagttcagg gggcggcgta gccgccgccc gcccaggagg accatgttgc
      361 gcggcaagtc ccggctcaac gtggagtggc tgggctactc gccaggcctg ctcctcgagc
      421 acaggcccct cctggcaggg cgcacgccgc ggagccaccg ccgaaatgaa agctcattag
      481 catctacact gaagacgctc ctgttcttca cagctttaat gatcactgtt cctattgggt
      541 tatatttcac aactaaatct tacatatttg aaggcgccct tgggatgtcc aatagggaca
      601 gctattttta cgctgctatt gttgcagtgg tcgccgtcca tgtggtgctg gccctctttg
      661 tgtatgtggc ctggaatgaa ggctcacgac agtggcgtga aggcaaacag gattaaagtg
      721 aacatcacct ttttatagca ttaaattcat tttttaaaat gataaatgct ggagggggcc
      781 atctgatttg aataaagttg aaagaacatg ttaaagtcag tcttaaggag tcacgtttga
      841 gtatgtaaat tttgatcttt ctaatatgtt ggtttgtata ttcagtttta actgtatgaa
      901 tctgatttgc aaatgagaat ttggaaaagt tagttacaaa gaaatatgtt aatttaatta
      961 gacaatactc tggaaggaat tttatcttct ttcaacaaaa catgttttat agtattctga
     1021 cttacggttg cttttgagtt ttactcattt ggatatatta agatgcacac agtgaagcaa
     1081 attaaactcc actttacgct ggaatgcttt ctttagcatg aaaataccag gtccttggat
     1141 ttgggatttt aatttcctat ggaaagttgc ttaaattgtg gacactggaa ttaatctgaa
     1201 tgtcactgag gaatttcaca tgaagtgtaa tccctagtca ataagaatta tccattacat
     1261 tattttatgg gaaaactagg ctaaattaca tccattcagg taaaaggacc ttagcttact
     1321 gaaggatcta aagagcaaag caaagatctc actactcaaa cactcagcct gcttccttca
     1381 agtccccttg caggccagct ttgtgctttg cagaccaact ttttaatgag atactttgct
     1441 tcctcattca acattgaagc taggcttcaa ttaaaaggtt cgaggaagct ccatttaaaa
     1501 ttgttttttt tactattttt taaaattgta gtgtatatga taggaatttg catttaaata
     1561 tgttcatttt tgcatatgtt aggagtggaa acaatctgga aaacattttt ttttcatcca
     1621 aaaagtattc tccttgggca tatctgatgg aaaaaaacct tgattttatt ttcgtatctt
     1681 tagtctgtgt tctttctagt tatttggtac taattatgtg caatctaaaa acactcccac
     1741 aagtatttgt tttttaatta taaaatcata gtatatgttc tttgtagaaa actggaaaaa
     1801 tacatattca aacaggaaaa aaaatcaaaa ttccccataa tgttgccatc taaaaataac
     1861 ctctatttta gttgatatcc cgtattcatt tttgaaagcc attccttaat gctagtttga
     1921 tacacactaa aagtttagct tacaagttca aattctgcca gcttttcctg acagctattt
     1981 gcattttttt cagatgagtg attattggcc attttctttt tctttttctt tattttattt
     2041 atttattttt ttgagacaga gttttgctct gttgcccagg ctggagtgca gtggtgcaat
     2101 ctcggctcac tgcaacctct gcctcctggg ttcaagtgat tctccacctc agcctcccaa
     2161 gtagctggga ctacggatgc ctgccaccac gcctggctaa tttttttttg tatttttttg
     2221 tagagacggg gtttcaccat gttgtccagg ctaatcttga acttgtgacc tcaggtgatc
     2281 cacccgcctc ggcctccgaa agtgctggga ttacaggcgt gagctaccac gcccggcctt
     2341 attgaccatt ttctaaataa gcacattcta tctttattct cttaaaattc aaattttctg
     2401 ttactgataa tcctaatact aggattcttg cttaagtatg tgaaaccatt accgatttgt
     2461 tgttcacatt tattttttat gttgtgaaac tggactaaag gaatagaggg atgattagtc
     2521 ataaaagtca aatagcattt gtgtttaact gttgagaaaa gtgaaagatc agtatgatta
     2581 ttatggaact gtttttaatt cttgcttaaa gactacaatt ttagtataat gacatttgag
     2641 tctagggtag tatgtggtag atttctagat ggtccctaat taagaagtat tgttgtattt
     2701 agaattgtcc acctaatttc tttttatata atgccaaggt atttcttgtg cttttgggat
     2761 cttatgctgt ttgtaaaatg ttactgtcca atgttggatt attgttttgg tttcaggcat
     2821 ttgctgaata ggtgatgata catgggtatt tttctgcaag tatttaaacc aggggcatat
     2881 gcaaaggcag ttgtaatttc ctcttggaaa aagcgccaaa tgtttgaagg ttaaaatcaa
     2941 atgctagggt tgatatttag gcttataaca aaataggctt gttttcaaag cagttttttc
     3001 ctagagtttt aactgttaac tcactagttt gctgctgttt ttaactatgt taaataacat
     3061 atggtatttg gcaaatagat ttatttttca aaatgtctca ctagtttcct tttacacaat
     3121 gtatatactt caagatgtat agaaaggaaa gctacagttg agcccttata catgttttaa
     3181 ggtagaaata tgttccctat tgtttgaaaa ctgattgtaa gaataacctc agttaggaga
     3241 tataacttga agtgtcagtc caaactactg atttaaccct atttacggta acacattacc
     3301 ttcctcacct cctgtttggc cctggagaat gtagtccttt ttctcatttg tgttgagaaa
     3361 tgaaaagtct gctgtagaat gtatctgatg tcattagttc ttcaaatgga taccattgta
     3421 catataacag tagaatttgg tttggggttg ttagtgaaaa aaaatttaaa cctgccatta
     3481 aaaatcccca tgtttcatgg aaatctaaca gaaatacatt gtaataatta gaacattttg
     3541 ttttcttttt tctttttttt tttttcgaga cggagttttg cccttcttgc ccaggctgga
     3601 gtgcaagggc gcaatctcgg ctcgctgcaa cctccgcctc ccgggttcaa gcagttctcc
     3661 tgcctcagcc ccctgagtac ctcagatgac aggtgcgtgc caccacaccc ggctaatttt
     3721 tgtattttta gtagagacgg ggtttcacca tgttagccag gctagtctcg aactcctgac
     3781 ctcaggtgat ccacccgcct ccgcctccca aagtgctggg attacaggta tcagccaccg
     3841 tgcctggcct aataattgga acattttcat catgaaaatg tcatcagctt tgccaaaaga
     3901 aacaaccaat tgacttgttt ggcgtttgtt ttccattttc atgtcaattt tatgtataca
     3961 gttagaatac ccaaggagac cactaaaatc agttaaacaa gtagggtata tacaaagaaa
     4021 gatgaaaccc gaaagtacat aaaaaggatt taaatccgat tttagatgta cctagtgtgt
     4081 atttcttatc tctagacaag ttcatgttta ttgtttaatt tatgcccaag tgaagttgta
     4141 aacttatggt tcaactctga cacagaattt gtcacttgtc tgaggtcagt ggcaggtttc
     4201 tctgctgtca agcactctgt gtcacccacc agattagtat aactattaat tcagactgta
     4261 ctcctatgtt taagataatt tttacaagag ctggctgaag cagcacatta gtaacctgac
     4321 aagatttctt tttccctttt cagggggaaa gggtcacctt aaaaataaat tattttcagg
     4381 gactttggga atctaatgat aaatattaca cataatctat gaatagctta atcctttata
     4441 tattccttaa aataggaatt cctcgacatc actcctggcc acactttcct tgcctgtgtt
     4501 gttgctatgt gtatttgaaa gtaatatctg cattcctttt aagatgttct gtaagtcata
     4561 tttgtcagtt atacagagta gtcttccttt tccccacgtt cagtgtaatc tcactgaaca
     4621 gtaataatag caatagctaa caacatctgc acagcacctt acagtttgca aagaacgttc
     4681 acacattctc atttgagttt tgcatagtga acctgttacg agatgtctct tgacgtcgat
     4741 gctaaaagtg ttagaatctt tacatcacta gagtcattga atatgctgta gtattgaata
     4801 gtgccctgac tagggggagg atttggatgt gctgcatttc aagccgtgta taatcatcaa
     4861 aatggggggc ttgagttctt tagctacttg aatccgattt acttctgtta agtgatgctt
     4921 ttctaaccgt tttctggatg gattttgtat tcactatatt gtagcttgta atttgtataa
     4981 atgtaccatc tgatgtcatt aaaaaaagtg tttgtagtgc ta
//
