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Q3ZAQ7

- VMA21_HUMAN

UniProt

Q3ZAQ7 - VMA21_HUMAN

Protein

Vacuolar ATPase assembly integral membrane protein VMA21

Gene

VMA21

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
  1. Functioni

    Required for the assembly of the V0 complex of the vacuolar ATPase (V-ATPase) in the endoplasmic reticulum.1 PublicationUniRule annotation

    GO - Biological processi

    1. vacuolar proton-transporting V-type ATPase complex assembly Source: UniProtKB

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Vacuolar ATPase assembly integral membrane protein VMA21UniRule annotation
    Alternative name(s):
    Myopathy with excessive autophagy protein
    Gene namesi
    Name:VMA21UniRule annotation
    Synonyms:MEAX, XMEA
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:22082. VMA21.

    Subcellular locationi

    Endoplasmic reticulum membrane 1 PublicationUniRule annotation; Multi-pass membrane protein 1 PublicationUniRule annotation. Endoplasmic reticulum-Golgi intermediate compartment membrane 1 PublicationUniRule annotation; Multi-pass membrane protein 1 PublicationUniRule annotation. Cytoplasmic vesicleCOPII-coated vesicle membrane 1 PublicationUniRule annotation; Multi-pass membrane protein 1 PublicationUniRule annotation

    GO - Cellular componenti

    1. COPII vesicle coat Source: UniProtKB
    2. endoplasmic reticulum-Golgi intermediate compartment membrane Source: UniProtKB-SubCell
    3. endoplasmic reticulum membrane Source: UniProtKB
    4. integral component of membrane Source: UniProtKB-KW
    5. lysosome Source: LIFEdb

    Keywords - Cellular componenti

    Cytoplasmic vesicle, Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Myopathy, X-linked, with excessive autophagy (MEAX) [MIM:310440]: A muscle disorder characterized by childhood early onset of a slowly progressive proximal limb muscle weakness (especially in legs) and elevation of serum creatine kinase, without evidence of cardiac, respiratory or central nervous system involvement. Histopathological analysis reveals diseased muscle fibers that are not necrotic, but show abnormal autophagic vacuolation as a manifestation of excessive autophagic activity in skeletal muscle cells.1 Publication
    Note: The gene represented in this entry may be involved in disease pathogenesis. VMA21 deficiency results in an increase of lysosomal pH from 4.7 to 5.2, which reduces lysosomal degradative ability and blocks autophagy. This reduces cellular free amino acids, which upregulates the mTOR pathway and mTOR-dependent macroautophagy, resulting in proliferation of large and ineffective autolysosomes that engulf sections of cytoplasm, merge together, and vacuolate the cell (PubMed:19379691).1 Publication

    Organism-specific databases

    MIMi310440. phenotype.
    Orphaneti25980. X-linked myopathy with excessive autophagy.
    PharmGKBiPA164727498.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 101101Vacuolar ATPase assembly integral membrane protein VMA21PRO_0000331499Add
    BLAST

    Proteomic databases

    MaxQBiQ3ZAQ7.
    PaxDbiQ3ZAQ7.
    PRIDEiQ3ZAQ7.

    Expressioni

    Gene expression databases

    BgeeiQ3ZAQ7.
    GenevestigatoriQ3ZAQ7.

    Organism-specific databases

    HPAiHPA010972.

    Interactioni

    Subunit structurei

    Associates with the V0 complex of the vacuolar ATPase (V-ATPase).

    Protein-protein interaction databases

    BioGridi128477. 14 interactions.
    IntActiQ3ZAQ7. 1 interaction.
    STRINGi9606.ENSP00000333255.

    Structurei

    3D structure databases

    ProteinModelPortaliQ3ZAQ7.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 2525CytoplasmicUniRule annotationAdd
    BLAST
    Topological domaini47 – 6519LumenalUniRule annotationAdd
    BLAST
    Topological domaini87 – 10115CytoplasmicUniRule annotationAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei26 – 4621HelicalUniRule annotationAdd
    BLAST
    Transmembranei66 – 8621HelicalUniRule annotationAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the VMA21 family.UniRule annotation

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG287271.
    HOGENOMiHOG000154822.
    OMAiDEQKDDA.
    OrthoDBiEOG7XWPR8.
    PhylomeDBiQ3ZAQ7.
    TreeFamiTF314021.

    Family and domain databases

    HAMAPiMF_03058. VMA21.
    InterProiIPR019013. VMA21-like_domain.
    [Graphical view]
    PfamiPF09446. VMA21. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q3ZAQ7-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MERPDKAALN ALQPPEFRNE SSLASTLKTL LFFTALMITV PIGLYFTTKS    50
    YIFEGALGMS NRDSYFYAAI VAVVAVHVVL ALFVYVAWNE GSRQWREGKQ 100
    D 101
    Length:101
    Mass (Da):11,354
    Last modified:September 27, 2005 - v1
    Checksum:i9DE436A7FF533443
    GO
    Isoform 2 (identifier: Q3ZAQ7-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-17: MERPDKAALNALQPPEF → MLGSPCGPQL...LAGRTPRSHR

    Note: No experimental confirmation available.

    Show »
    Length:156
    Mass (Da):17,766
    Checksum:i8A3F475CD071D5BC
    GO

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 1717MERPD…QPPEF → MLGSPCGPQLSDRDADEDQC SREFRGRRSRRPPRRTMLRG KSRLNVEWLGYSPGLLLEHR PLLAGRTPRSHR in isoform 2. CuratedVSP_041257Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK096835 mRNA. Translation: BAG53371.1.
    AF003627 Genomic DNA. No translation available.
    BC103701 mRNA. Translation: AAI03702.1.
    BC103702 mRNA. Translation: AAI03703.1.
    BC105693 mRNA. Translation: AAI05694.1.
    BC105694 mRNA. Translation: AAI05695.1.
    BC110800 mRNA. Translation: AAI10801.1.
    CCDSiCCDS35430.1. [Q3ZAQ7-1]
    RefSeqiNP_001017980.1. NM_001017980.3. [Q3ZAQ7-1]
    UniGeneiHs.58633.

    Genome annotation databases

    EnsembliENST00000330374; ENSP00000333255; ENSG00000160131. [Q3ZAQ7-1]
    ENST00000370361; ENSP00000359386; ENSG00000160131. [Q3ZAQ7-2]
    GeneIDi203547.
    KEGGihsa:203547.
    UCSCiuc004feu.3. human. [Q3ZAQ7-1]

    Polymorphism databases

    DMDMi121943063.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK096835 mRNA. Translation: BAG53371.1 .
    AF003627 Genomic DNA. No translation available.
    BC103701 mRNA. Translation: AAI03702.1 .
    BC103702 mRNA. Translation: AAI03703.1 .
    BC105693 mRNA. Translation: AAI05694.1 .
    BC105694 mRNA. Translation: AAI05695.1 .
    BC110800 mRNA. Translation: AAI10801.1 .
    CCDSi CCDS35430.1. [Q3ZAQ7-1 ]
    RefSeqi NP_001017980.1. NM_001017980.3. [Q3ZAQ7-1 ]
    UniGenei Hs.58633.

    3D structure databases

    ProteinModelPortali Q3ZAQ7.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 128477. 14 interactions.
    IntActi Q3ZAQ7. 1 interaction.
    STRINGi 9606.ENSP00000333255.

    Polymorphism databases

    DMDMi 121943063.

    Proteomic databases

    MaxQBi Q3ZAQ7.
    PaxDbi Q3ZAQ7.
    PRIDEi Q3ZAQ7.

    Protocols and materials databases

    DNASUi 203547.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000330374 ; ENSP00000333255 ; ENSG00000160131 . [Q3ZAQ7-1 ]
    ENST00000370361 ; ENSP00000359386 ; ENSG00000160131 . [Q3ZAQ7-2 ]
    GeneIDi 203547.
    KEGGi hsa:203547.
    UCSCi uc004feu.3. human. [Q3ZAQ7-1 ]

    Organism-specific databases

    CTDi 203547.
    GeneCardsi GC0XP150564.
    HGNCi HGNC:22082. VMA21.
    HPAi HPA010972.
    MIMi 300913. gene.
    310440. phenotype.
    neXtProti NX_Q3ZAQ7.
    Orphaneti 25980. X-linked myopathy with excessive autophagy.
    PharmGKBi PA164727498.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG287271.
    HOGENOMi HOG000154822.
    OMAi DEQKDDA.
    OrthoDBi EOG7XWPR8.
    PhylomeDBi Q3ZAQ7.
    TreeFami TF314021.

    Miscellaneous databases

    GenomeRNAii 203547.
    NextBioi 90447.
    PROi Q3ZAQ7.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q3ZAQ7.
    Genevestigatori Q3ZAQ7.

    Family and domain databases

    HAMAPi MF_03058. VMA21.
    InterProi IPR019013. VMA21-like_domain.
    [Graphical view ]
    Pfami PF09446. VMA21. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    2. "The DNA sequence of the human X chromosome."
      Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
      , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
      Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Testis carcinoma.
    4. Cited for: FUNCTION, SUBCELLULAR LOCATION, INVOLVEMENT IN MEAX.
    5. Cited for: RETRACTION.
    6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiVMA21_HUMAN
    AccessioniPrimary (citable) accession number: Q3ZAQ7
    Secondary accession number(s): A6NKV7, B3KUA9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 29, 2008
    Last sequence update: September 27, 2005
    Last modified: October 1, 2014
    This is version 76 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome X
      Human chromosome X: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3