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

Summary

Official Symbol: VMA21provided by HGNC
Official Full Name: vacuolar ATPase assembly factor VMA21provided by HGNC
Primary source: HGNC:HGNC:22082
See related: Ensembl:ENSG00000160131 MIM:300913; AllianceGenome:HGNC:22082
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: mouse all
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Genomic context

Location:: Xq28

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (151396595..151409364)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (149664671..149677438)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (150565067..150577836)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification of a muscle-specific isoform of VMA21 as a potent actor in X-linked myopathy with excessive autophagy pathogenesis.
Title: Identification of a muscle-specific isoform of VMA21 as a potent actor in X-linked myopathy with excessive autophagy pathogenesis.
Follicular lymphoma-associated mutations in the V-ATPase chaperone VMA21 activate autophagy creating a targetable dependency.
Title: Follicular lymphoma-associated mutations in the V-ATPase chaperone VMA21 activate autophagy creating a targetable dependency.
Hsa_circ_0001361 facilitates the progress of lung adenocarcinoma cells via targeting miR-525-5p/VMA21 axis.
Title: Hsa_circ_0001361 facilitates the progress of lung adenocarcinoma cells via targeting miR-525-5p/VMA21 axis.
circ_VMA21 protects WI-38 cells against LPS-induced apoptotic and inflammatory injury by acting on the miR-409-3p/KLF4 axis.
Title: circ_VMA21 protects WI-38 cells against LPS-induced apoptotic and inflammatory injury by acting on the miR-409-3p/KLF4 axis.
Clinical, imaging, morphologic, and molecular features of X-linked VMA21-related myopathy in two unrelated Brazilian families.
Title: Clinical, imaging, morphologic, and molecular features of X-linked VMA21-related myopathy in two unrelated Brazilian families.
Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease.
Title: Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease.
lncRNA ZFPM2-AS1 promotes proliferation via miR-18b-5p/VMA21 axis in lung adenocarcinoma.
Title: lncRNA ZFPM2-AS1 promotes proliferation via miR-18b-5p/VMA21 axis in lung adenocarcinoma.
A Japanese family afflicted by X-linked myopathy with excessive autophagy displayed high urinary beta2 microglobulin without renal dysfunction. Decreased urine acidification in the distal convoluted tubules might be caused by the VMA21 gene mutation.
Title: Elevated urinary β2 microglobulin in the first identified Japanese family afflicted by X-linked myopathy with excessive autophagy.
This study showed that LOC203547 is the human ortholog of Vma21p, and that hypomorphic mutations of the VMA21 gene disrupt autophagy and cause -linked Myopathy with Excessive Autophagy.
Title: VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
X-linked myopathy with excessive autophagy MedGen: C1839615 OMIM: 310440 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

DXS7076 (e-PCR)
- UniSTS:98932

D1S1425 (e-PCR)
- UniSTS:149621

RH93612 (e-PCR)
- UniSTS:91009

D11S3114 (e-PCR)
- UniSTS:152207

D16S325 (e-PCR)
- UniSTS:147089

DXS963E (e-PCR)
- UniSTS:99008

NoName (e-PCR)
- UniSTS:484546

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in regulation of ATP-dependent activity	TAS Traceable Author Statement more info	PubMed
involved_in vacuolar proton-transporting V-type ATPase complex assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in vacuolar proton-transporting V-type ATPase complex assembly	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in ER to Golgi transport vesicle membrane	IEA Inferred from Electronic Annotation more info
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum-Golgi intermediate compartment membrane	IEA Inferred from Electronic Annotation more info
located_in lysosome	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: vacuolar ATPase assembly integral membrane protein VMA21

Names: VMA21 vacuolar H+-ATPase homolog; VMA21, vacuolar ATPase assembly factor; myopathy with excessive autophagy protein

NCBI Reference Sequences (RefSeq)

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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

NG_016761.1 RefSeqGene

Range

5001..17180

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_860

mRNA and Protein(s)

NM_001017980.4 → NP_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)

AF003627

Consensus CDS

CCDS35430.1

UniProtKB/Swiss-Prot

A6NKV7, B3KUA9, Q3ZAQ7

Related

ENSP00000333255.6, ENST00000330374.7

Conserved Domains (1) summary

pfam09446
Location:25 → 67

VMA21; VMA21-like domain
NM_001363810.1 → NP_001350739.1 vacuolar ATPase assembly integral membrane protein VMA21 isoform 2

Status: REVIEWED

Source sequence(s)

AF003627

Consensus CDS

CCDS87789.1

Related

ENSP00000359386.1, ENST00000370361.5

Conserved Domains (1) summary

pfam09446
Location:80 → 122

VMA21; VMA21-like domain