LOCUS       NM_001017980            4715 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens vacuolar ATPase assembly factor VMA21 (VMA21),
            transcript variant 1, mRNA.
ACCESSION   NM_001017980 XM_377060
VERSION     NM_001017980.4
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 4715)
  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 4715)
  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 4715)
  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 4715)
  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 4715)
  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 4715)
  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 4715)
  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 4715)
  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 4715)
  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 4715)
  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 Aug 14, 2020 this sequence version replaced NM_001017980.3.
            
            Summary: This gene encodes a chaperone for assembly of lysosomal
            vacuolar ATPase.[provided by RefSeq, Jul 2012].
            
            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 :: BC110800.1, AL833596.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000330374.7/ ENSP00000333255.6
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-156               AF003627.3         28740-28895
            157-266             AF003627.3         35165-35274
            267-4715            AF003627.3         36450-40898
FEATURES             Location/Qualifiers
     source          1..4715
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..4715
                     /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..156
                     /gene="VMA21"
                     /gene_synonym="MEAX; XMEA"
                     /inference="alignment:Splign:2.1.0"
     CDS             104..409
                     /gene="VMA21"
                     /gene_synonym="MEAX; XMEA"
                     /note="isoform 1 is encoded by transcript variant 1;
                     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 1"
                     /protein_id="NP_001017980.1"
                     /db_xref="CCDS:CCDS35430.1"
                     /db_xref="GeneID:203547"
                     /db_xref="HGNC:HGNC:22082"
                     /db_xref="MIM:300913"
                     /translation="MERPDKAALNALQPPEFRNESSLASTLKTLLFFTALMITVPIGL
                     YFTTKSYIFEGALGMSNRDSYFYAAIVAVVAVHVVLALFVYVAWNEGSRQWREGKQD"
     exon            157..266
                     /gene="VMA21"
                     /gene_synonym="MEAX; XMEA"
                     /inference="alignment:Splign:2.1.0"
     exon            267..4715
                     /gene="VMA21"
                     /gene_synonym="MEAX; XMEA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4691..4696
                     /regulatory_class="polyA_signal_sequence"
                     /gene="VMA21"
                     /gene_synonym="MEAX; XMEA"
                     /note="hexamer: ATTAAA"
     polyA_site      4715
                     /gene="VMA21"
                     /gene_synonym="MEAX; XMEA"
                     /note="major polyA site"
ORIGIN      
        1 acttccggtg cgaaccgcct cggccgttcc ctcgcggagc ttactgagcg cggccgccga
       61 gcccagctcc gccgccgagc gcctgtgccg gcacggctac accatggagc gcccggataa
      121 ggcggcgctg aacgcactgc agcctcctga gttcagaaat gaaagctcat tagcatctac
      181 actgaagacg ctcctgttct tcacagcttt aatgatcact gttcctattg ggttatattt
      241 cacaactaaa tcttacatat ttgaaggcgc ccttgggatg tccaataggg acagctattt
      301 ttacgctgct attgttgcag tggtcgccgt ccatgtggtg ctggccctct ttgtgtatgt
      361 ggcctggaat gaaggctcac gacagtggcg tgaaggcaaa caggattaaa gtgaacatca
      421 cctttttata gcattaaatt cattttttaa aatgataaat gctggagggg gccatctgat
      481 ttgaataaag ttgaaagaac atgttaaagt cagtcttaag gagtcacgtt tgagtatgta
      541 aattttgatc tttctaatat gttggtttgt atattcagtt ttaactgtat gaatctgatt
      601 tgcaaatgag aatttggaaa agttagttac aaagaaatat gttaatttaa ttagacaata
      661 ctctggaagg aattttatct tctttcaaca aaacatgttt tatagtattc tgacttacgg
      721 ttgcttttga gttttactca tttggatata ttaagatgca cacagtgaag caaattaaac
      781 tccactttac gctggaatgc tttctttagc atgaaaatac caggtccttg gatttgggat
      841 tttaatttcc tatggaaagt tgcttaaatt gtggacactg gaattaatct gaatgtcact
      901 gaggaatttc acatgaagtg taatccctag tcaataagaa ttatccatta cattatttta
      961 tgggaaaact aggctaaatt acatccattc aggtaaaagg accttagctt actgaaggat
     1021 ctaaagagca aagcaaagat ctcactactc aaacactcag cctgcttcct tcaagtcccc
     1081 ttgcaggcca gctttgtgct ttgcagacca actttttaat gagatacttt gcttcctcat
     1141 tcaacattga agctaggctt caattaaaag gttcgaggaa gctccattta aaattgtttt
     1201 ttttactatt ttttaaaatt gtagtgtata tgataggaat ttgcatttaa atatgttcat
     1261 ttttgcatat gttaggagtg gaaacaatct ggaaaacatt tttttttcat ccaaaaagta
     1321 ttctccttgg gcatatctga tggaaaaaaa ccttgatttt attttcgtat ctttagtctg
     1381 tgttctttct agttatttgg tactaattat gtgcaatcta aaaacactcc cacaagtatt
     1441 tgttttttaa ttataaaatc atagtatatg ttctttgtag aaaactggaa aaatacatat
     1501 tcaaacagga aaaaaaatca aaattcccca taatgttgcc atctaaaaat aacctctatt
     1561 ttagttgata tcccgtattc atttttgaaa gccattcctt aatgctagtt tgatacacac
     1621 taaaagttta gcttacaagt tcaaattctg ccagcttttc ctgacagcta tttgcatttt
     1681 tttcagatga gtgattattg gccattttct ttttcttttt ctttatttta tttatttatt
     1741 tttttgagac agagttttgc tctgttgccc aggctggagt gcagtggtgc aatctcggct
     1801 cactgcaacc tctgcctcct gggttcaagt gattctccac ctcagcctcc caagtagctg
     1861 ggactacgga tgcctgccac cacgcctggc taattttttt ttgtattttt ttgtagagac
     1921 ggggtttcac catgttgtcc aggctaatct tgaacttgtg acctcaggtg atccacccgc
     1981 ctcggcctcc gaaagtgctg ggattacagg cgtgagctac cacgcccggc cttattgacc
     2041 attttctaaa taagcacatt ctatctttat tctcttaaaa ttcaaatttt ctgttactga
     2101 taatcctaat actaggattc ttgcttaagt atgtgaaacc attaccgatt tgttgttcac
     2161 atttattttt tatgttgtga aactggacta aaggaataga gggatgatta gtcataaaag
     2221 tcaaatagca tttgtgttta actgttgaga aaagtgaaag atcagtatga ttattatgga
     2281 actgttttta attcttgctt aaagactaca attttagtat aatgacattt gagtctaggg
     2341 tagtatgtgg tagatttcta gatggtccct aattaagaag tattgttgta tttagaattg
     2401 tccacctaat ttctttttat ataatgccaa ggtatttctt gtgcttttgg gatcttatgc
     2461 tgtttgtaaa atgttactgt ccaatgttgg attattgttt tggtttcagg catttgctga
     2521 ataggtgatg atacatgggt atttttctgc aagtatttaa accaggggca tatgcaaagg
     2581 cagttgtaat ttcctcttgg aaaaagcgcc aaatgtttga aggttaaaat caaatgctag
     2641 ggttgatatt taggcttata acaaaatagg cttgttttca aagcagtttt ttcctagagt
     2701 tttaactgtt aactcactag tttgctgctg tttttaacta tgttaaataa catatggtat
     2761 ttggcaaata gatttatttt tcaaaatgtc tcactagttt ccttttacac aatgtatata
     2821 cttcaagatg tatagaaagg aaagctacag ttgagccctt atacatgttt taaggtagaa
     2881 atatgttccc tattgtttga aaactgattg taagaataac ctcagttagg agatataact
     2941 tgaagtgtca gtccaaacta ctgatttaac cctatttacg gtaacacatt accttcctca
     3001 cctcctgttt ggccctggag aatgtagtcc tttttctcat ttgtgttgag aaatgaaaag
     3061 tctgctgtag aatgtatctg atgtcattag ttcttcaaat ggataccatt gtacatataa
     3121 cagtagaatt tggtttgggg ttgttagtga aaaaaaattt aaacctgcca ttaaaaatcc
     3181 ccatgtttca tggaaatcta acagaaatac attgtaataa ttagaacatt ttgttttctt
     3241 ttttcttttt ttttttttcg agacggagtt ttgcccttct tgcccaggct ggagtgcaag
     3301 ggcgcaatct cggctcgctg caacctccgc ctcccgggtt caagcagttc tcctgcctca
     3361 gccccctgag tacctcagat gacaggtgcg tgccaccaca cccggctaat ttttgtattt
     3421 ttagtagaga cggggtttca ccatgttagc caggctagtc tcgaactcct gacctcaggt
     3481 gatccacccg cctccgcctc ccaaagtgct gggattacag gtatcagcca ccgtgcctgg
     3541 cctaataatt ggaacatttt catcatgaaa atgtcatcag ctttgccaaa agaaacaacc
     3601 aattgacttg tttggcgttt gttttccatt ttcatgtcaa ttttatgtat acagttagaa
     3661 tacccaagga gaccactaaa atcagttaaa caagtagggt atatacaaag aaagatgaaa
     3721 cccgaaagta cataaaaagg atttaaatcc gattttagat gtacctagtg tgtatttctt
     3781 atctctagac aagttcatgt ttattgttta atttatgccc aagtgaagtt gtaaacttat
     3841 ggttcaactc tgacacagaa tttgtcactt gtctgaggtc agtggcaggt ttctctgctg
     3901 tcaagcactc tgtgtcaccc accagattag tataactatt aattcagact gtactcctat
     3961 gtttaagata atttttacaa gagctggctg aagcagcaca ttagtaacct gacaagattt
     4021 ctttttccct tttcaggggg aaagggtcac cttaaaaata aattattttc agggactttg
     4081 ggaatctaat gataaatatt acacataatc tatgaatagc ttaatccttt atatattcct
     4141 taaaatagga attcctcgac atcactcctg gccacacttt ccttgcctgt gttgttgcta
     4201 tgtgtatttg aaagtaatat ctgcattcct tttaagatgt tctgtaagtc atatttgtca
     4261 gttatacaga gtagtcttcc ttttccccac gttcagtgta atctcactga acagtaataa
     4321 tagcaatagc taacaacatc tgcacagcac cttacagttt gcaaagaacg ttcacacatt
     4381 ctcatttgag ttttgcatag tgaacctgtt acgagatgtc tcttgacgtc gatgctaaaa
     4441 gtgttagaat ctttacatca ctagagtcat tgaatatgct gtagtattga atagtgccct
     4501 gactaggggg aggatttgga tgtgctgcat ttcaagccgt gtataatcat caaaatgggg
     4561 ggcttgagtt ctttagctac ttgaatccga tttacttctg ttaagtgatg cttttctaac
     4621 cgttttctgg atggattttg tattcactat attgtagctt gtaatttgta taaatgtacc
     4681 atctgatgtc attaaaaaaa gtgtttgtag tgcta
//
