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VMA21 VMA21, vacuolar ATPase assembly factor [ Homo sapiens (human) ]

Gene ID: 203547, updated on 14-Jun-2018
Official Symbol
VMA21provided by HGNC
Official Full Name
VMA21, vacuolar ATPase assembly factorprovided by HGNC
Primary source
HGNC:HGNC:22082
See related
Ensembl:ENSG00000160131 MIM:300913; Vega:OTTHUMG00000024168
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MEAX; XMEA
Summary
This gene encodes a chaperone for assembly of lysosomal vacuolar ATPase.[provided by RefSeq, Jul 2012]
Expression
Ubiquitous expression in brain (RPKM 10.4), thyroid (RPKM 7.4) and 25 other tissues See more
Orthologs
See VMA21 in Genome Data Viewer
Location:
Xq28
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (151396555..151409364)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (150565657..150577836)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs1746 Neighboring gene NGFI-A binding protein 1 (EGR1 binding protein 1) pseudogene Neighboring gene uncharacterized LOC107985693 Neighboring gene uncharacterized LOC105373367 Neighboring gene uncharacterized LOC105377213 Neighboring gene PAS domain containing repressor 1

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC125514, MGC125516, MGC131652

Gene Ontology Provided by GOA

Process Evidence Code Pubs
regulation of ATPase activity TAS
Traceable Author Statement
more info
PubMed 
vacuolar proton-transporting V-type ATPase complex assembly TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
ER to Golgi transport vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum-Golgi intermediate compartment membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
lysosome IDA
Inferred from Direct Assay
more info
 
Preferred Names
vacuolar ATPase assembly integral membrane protein VMA21
Names
VMA21 vacuolar H+-ATPase homolog
myopathy with excessive autophagy protein

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016761.1 RefSeqGene

    Range
    5001..17180
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_860

mRNA and Protein(s)

  1. NM_001017980.3NP_001017980.1  vacuolar ATPase assembly integral membrane protein VMA21 isoform 1

    See identical proteins and their annotated locations for NP_001017980.1

    Status: REVIEWED

    Source sequence(s)
    AL833596, BC110800, DA224893
    Consensus CDS
    CCDS35430.1
    UniProtKB/Swiss-Prot
    Q3ZAQ7
    Related
    ENSP00000333255.6, OTTHUMP00000025870, ENST00000330374.6, OTTHUMT00000060876
    Conserved Domains (1) summary
    pfam09446
    Location:2588
    VMA21; VMA21-like domain
  2. NM_001363810.1NP_001350739.1  vacuolar ATPase assembly integral membrane protein VMA21 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AF003627
    Consensus CDS
    CCDS87789.1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

    Range
    151396555..151409364
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011531125.2XP_011529427.1  vacuolar ATPase assembly integral membrane protein VMA21 isoform X1

    UniProtKB/Swiss-Prot
    Q3ZAQ7
    Related
    ENSP00000359386.1, OTTHUMP00000025871, ENST00000370361.5, OTTHUMT00000060878
    Conserved Domains (1) summary
    pfam09446
    Location:80122
    VMA21; VMA21-like domain
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