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Q3ZAQ7

- VMA21_HUMAN

UniProt

Q3ZAQ7 - VMA21_HUMAN

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Protein

Vacuolar ATPase assembly integral membrane protein VMA21

Gene
VMA21, MEAX, XMEA
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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

GO - Biological processi

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

Names & Taxonomyi

Protein namesi
Recommended name:
Vacuolar ATPase assembly integral membrane protein VMA21
Alternative name(s):
Myopathy with excessive autophagy protein
Gene namesi
Name:VMA21
Synonyms:MEAX, XMEA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:22082. VMA21.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2525Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei26 – 4621Helical; Reviewed predictionAdd
BLAST
Topological domaini47 – 6519Lumenal Reviewed predictionAdd
BLAST
Transmembranei66 – 8621Helical; Reviewed predictionAdd
BLAST
Topological domaini87 – 10115Cytoplasmic Reviewed predictionAdd
BLAST

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
Complete GO annotation...

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.
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 (1 Publication).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 VMA21UniRule annotationPRO_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.

Family & Domainsi

Sequence similaritiesi

Belongs to the VMA21 family.

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. VSP_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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 75 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

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