VMA21 cDNA ORF clone, Homo sapiens(human)

Gene
Clones
gRNAs

Summary

Gene Symbol	VMA21
Entrez Gene ID	203547
Full Name	VMA21, vacuolar ATPase assembly factor
Synonyms	MEAX,XMEA
General protein information	Preferred Names VMA21, vacuolar ATPase assembly factor Names vacuolar ATPase assembly integral membrane protein VMA21 VMA21 vacuolar H+-ATPase homolog myopathy with excessive autophagy protein
Gene Type	protein-coding
Organism	Homo sapiens(human)
Genome	Chromosome: X Map Location: Xq28
Summary	This gene encodes a chaperone for assembly of lysosomal vacuolar ATPase.[provided by RefSeq, Jul 2012].
Disorder MIM:	300913
Disorder Html:	Myopathy, X-linked, with excessive autophagy, 310440 (3)

mRNA and Protein(s)

mRNA	Protein	Name
NM_001017980.3	NP_001017980.1	vacuolar ATPase assembly integral membrane protein VMA21 isoform 1
NM_001363810.1	NP_001350739.1	vacuolar ATPase assembly integral membrane protein VMA21 isoform 2
XM_011531125.2	XP_011529427.1	vacuolar ATPase assembly integral membrane protein VMA21 isoform X1

Pathways from BioSystems

Homologies

Bos taurus (cattle)	VMA21	NP_001075085.1
Pan troglodytes (chimpanzee)	VMA21	XP_001136167.1
Homo sapiens (human)	VMA21	NP_001017980.1
Canis lupus familiaris (dog)	VMA21	NP_001239241.1

Gene Ontology
Bibliography

Related articles in PubMed

Mutations in the X-linked
Rujano MA, Cannata Serio M, Panasyuk G, P?anne R, Reunert J, Rymen D, Hauser V, Park JH, Freisinger P, Souche E, Guida MC, Maier EM, Wada Y, J?ger S, Krogan NJ, Kretz O, Nobre S, Garcia P, Quelhas D, Bird TD, Raskind WH, Schwake M, Duvet S, Foulquier F, Matthijs G, Marquardt T, Simons M
The Journal of experimental medicine214(12)3707-3729(2017 Dec)

X-linked myopathy with excessive autophagy: a failure of self-eating.
Dowling JJ, Moore SA, Kalimo H, Minassian BA
Acta neuropathologica129(3)383-90(2015 Mar)

Elevated urinary ?2 microglobulin in the first identified Japanese family afflicted by X-linked myopathy with excessive autophagy.
Kurashige T, Takahashi T, Yamazaki Y, Nagano Y, Kondo K, Nakamura T, Yamawaki T, Tsuburaya R, Hayashi YK, Nonaka I, Nishino I, Matsumoto M
Neuromuscular disorders : NMD23(11)911-6(2013 Nov)

VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy.
Ramachandran N, Munteanu I, Wang P, Ruggieri A, Rilstone JJ, Israelian N, Naranian T, Paroutis P, Guo R, Ren ZP, Nishino I, Chabrol B, Pellissier JF, Minetti C, Udd B, Fardeau M, Tailor CS, Mahuran DJ, Kissel JT, Kalimo H, Levy N, Manolson MF, Ackerley CA, Minassian BA
Acta neuropathologica125(3)439-57(2013 Mar)

Impaired autophagy in sporadic inclusion-body myositis and in endoplasmic reticulum stress-provoked cultured human muscle fibers.
Nogalska A, D'Agostino C, Terracciano C, Engel WK, Askanas V
The American journal of pathology177(3)1377-87(2010 Sep)

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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 ?2 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.

The following VMA21 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the VMA21 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1⁺/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

***CloneID	Accession No.	Definition	**Vector	*Turnaround time	Price (USD)
OHu23612	NM_001017980.3 Latest version!	Homo sapiens vacuolar ATPase assembly factor VMA21 (VMA21), transcript variant 1, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$49.50-$69.30 $99.00
OHu77854	NM_001363810.1 Latest version!	Homo sapiens vacuolar ATPase assembly factor VMA21 (VMA21), transcript variant 2, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	7-9	$69.30 $99.00
OHu77854	XM_011531125.2 Latest version!	Homo sapiens VMA21 vacuolar H+-ATPase homolog (S. cerevisiae) (VMA21), transcript variant X1, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	7-9	$69.30 $99.00

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** You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.

** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.

Reference Sequences (Refseq)

VMA21 ( NM_001017980.3 ) cDNA ORF clone, Homo sapiens(human) -> NP_001017980.1 Homo sapiens vacuolar ATPase assembly factor VMA21 (VMA21), transcript variant 1, mRNA.

Price & Availability↑

CloneID	OHu23612
Clone ID Related Accession (Same CDS sequence)	NM_001017980.3
Accession Version	NM_001017980.3 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 306bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2019-10-10
Organism	Homo sapiens(human)
Product	vacuolar ATPase assembly integral membrane protein VMA21 isoform 1
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA224893.1, AL833596.1 and BC110800.1. This sequence is a reference standard in the RefSeqGene project. On Oct 3, 2009 this sequence version replaced NM_001017980.2. ##Evidence-Data-START## Transcript exon combination :: AL833596.1, SRR1660805.252891.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end.

ATGGAGCGCC CGGATAAGGC GGCGCTGAAC GCACTGCAGC CTCCTGAGTT CAGAAATGAA 
AGCTCATTAG CATCTACACT GAAGACGCTC CTGTTCTTCA CAGCTTTAAT GATCACTGTT 
CCTATTGGGT TATATTTCAC AACTAAATCT TACATATTTG AAGGCGCCCT TGGGATGTCC 
AATAGGGACA GCTATTTTTA CGCTGCTATT GTTGCAGTGG TCGCCGTCCA TGTGGTGCTG 
GCCCTCTTTG TGTATGTGGC CTGGAATGAA GGCTCACGAC AGTGGCGTGA AGGCAAACAG 
GATTAA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_001017980.1
CDS	125..430
Translation	MERPDKAALNALQPPEFRNESSLASTLKTLLFFTALMITVPIGLYFTTKSYIFEGALGMSNRDSYFYAAIVAVVAVHVVLALFVYVAWNEGSRQWREGKQD

Target ORF information:

RefSeq Version	NM_001017980.3
Organism	Homo sapiens(human)
Definition	Homo sapiens vacuolar ATPase assembly factor VMA21 (VMA21), transcript variant 1, mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_001017980.3

ORF Insert Sequence:

ATGGAGCGCC CGGATAAGGC GGCGCTGAAC GCACTGCAGC CTCCTGAGTT CAGAAATGAA 
AGCTCATTAG CATCTACACT GAAGACGCTC CTGTTCTTCA CAGCTTTAAT GATCACTGTT 
CCTATTGGGT TATATTTCAC AACTAAATCT TACATATTTG AAGGCGCCCT TGGGATGTCC 
AATAGGGACA GCTATTTTTA CGCTGCTATT GTTGCAGTGG TCGCCGTCCA TGTGGTGCTG 
GCCCTCTTTG TGTATGTGGC CTGGAATGAA GGCTCACGAC AGTGGCGTGA AGGCAAACAG 
GATTAA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

VMA21 ( NM_001363810.1 ) cDNA ORF clone, Homo sapiens(human) -> NP_001350739.1 Homo sapiens vacuolar ATPase assembly factor VMA21 (VMA21), transcript variant 2, mRNA.

Price & Availability↑

CloneID	OHu77854
Clone ID Related Accession (Same CDS sequence)	NM_001363810.1 , XM_011531125.2
Accession Version	NM_001363810.1 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 471bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2019-10-10
Organism	Homo sapiens(human)
Product	vacuolar ATPase assembly integral membrane protein VMA21 isoform 2
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AF003627.3. On Jun 3, 2018 this sequence version replaced XM_011531125.2. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. ##Evidence-Data-START## Transcript exon combination :: SRR1803613.7560.1, SRR1803617.14972.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA2142586 [ECO:0000348] ##Evidence-Data-END##

ATGCTCGGGT CTCCTTGCGG CCCCCAGCTC AGCGACCGAG ACGCAGACGA GGACCAGTGT 
TCACGCGAGT TCAGGGGGCG GCGTAGCCGC CGCCCGCCCA GGAGGACCAT GTTGCGCGGC 
AAGTCCCGGC TCAACGTGGA GTGGCTGGGC TACTCGCCAG GCCTGCTCCT CGAGCACAGG 
CCCCTCCTGG CAGGGCGCAC GCCGCGGAGC CACCGCCGAA ATGAAAGCTC ATTAGCATCT 
ACACTGAAGA CGCTCCTGTT CTTCACAGCT TTAATGATCA CTGTTCCTAT TGGGTTATAT 
TTCACAACTA AATCTTACAT ATTTGAAGGC GCCCTTGGGA TGTCCAATAG GGACAGCTAT 
TTTTACGCTG CTATTGTTGC AGTGGTCGCC GTCCATGTGG TGCTGGCCCT CTTTGTGTAT 
GTGGCCTGGA ATGAAGGCTC ACGACAGTGG CGTGAAGGCA AACAGGATTA A

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_001350739.1
CDS	246..716
Translation	MLGSPCGPQLSDRDADEDQCSREFRGRRSRRPPRRTMLRGKSRLNVEWLGYSPGLLLEHRPLLAGRTPRSHRRNESSLASTLKTLLFFTALMITVPIGLYFTTKSYIFEGALGMSNRDSYFYAAIVAVVAVHVVLALFVYVAWNEGSRQWREGKQD

Target ORF information:

RefSeq Version	NM_001363810.1
Organism	Homo sapiens(human)
Definition	Homo sapiens vacuolar ATPase assembly factor VMA21 (VMA21), transcript variant 2, mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_001363810.1

ORF Insert Sequence:

ATGCTCGGGT CTCCTTGCGG CCCCCAGCTC AGCGACCGAG ACGCAGACGA GGACCAGTGT 
TCACGCGAGT TCAGGGGGCG GCGTAGCCGC CGCCCGCCCA GGAGGACCAT GTTGCGCGGC 
AAGTCCCGGC TCAACGTGGA GTGGCTGGGC TACTCGCCAG GCCTGCTCCT CGAGCACAGG 
CCCCTCCTGG CAGGGCGCAC GCCGCGGAGC CACCGCCGAA ATGAAAGCTC ATTAGCATCT 
ACACTGAAGA CGCTCCTGTT CTTCACAGCT TTAATGATCA CTGTTCCTAT TGGGTTATAT 
TTCACAACTA AATCTTACAT ATTTGAAGGC GCCCTTGGGA TGTCCAATAG GGACAGCTAT 
TTTTACGCTG CTATTGTTGC AGTGGTCGCC GTCCATGTGG TGCTGGCCCT CTTTGTGTAT 
GTGGCCTGGA ATGAAGGCTC ACGACAGTGG CGTGAAGGCA AACAGGATTA A

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

VMA21 ( XM_011531125.2 ) cDNA ORF clone, Homo sapiens(human) -> XP_011529427.1 Homo sapiens VMA21 vacuolar H+-ATPase homolog (S. cerevisiae) (VMA21), transcript variant X1, mRNA.

Price & Availability↑

CloneID	OHu77854
Clone ID Related Accession (Same CDS sequence)	NM_001363810.1 , XM_011531125.2
Accession Version	XM_011531125.2 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 471bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2016-06-05
Organism	Homo sapiens(human)
Product	vacuolar ATPase assembly integral membrane protein VMA21 isoform X1
Comment	Comment: MODEL REFSEQ: This record is predicted by automated computational analysis. This record is derived from a genomic sequence (NC_000023.11) annotated using gene prediction method: Gnomon, supported by mRNA and EST evidence. Also see: Documentation of NCBI's Annotation Process On Jun 6, 2016 this sequence version replaced XM_011531125.1. ##Genome-Annotation-Data-START## Annotation Provider :: NCBI Annotation Status :: Full annotation Annotation Version :: Homo sapiens Annotation Release 108 Annotation Pipeline :: NCBI eukaryotic genome annotation pipeline Annotation Software Version :: 7.0 Annotation Method :: Best-placed RefSeq; Gnomon Features Annotated :: Gene; mRNA; CDS; ncRNA ##Genome-Annotation-Data-END##

ATGCTCGGGT CTCCTTGCGG CCCCCAGCTC AGCGACCGAG ACGCAGACGA GGACCAGTGT 
TCACGCGAGT TCAGGGGGCG GCGTAGCCGC CGCCCGCCCA GGAGGACCAT GTTGCGCGGC 
AAGTCCCGGC TCAACGTGGA GTGGCTGGGC TACTCGCCAG GCCTGCTCCT CGAGCACAGG 
CCCCTCCTGG CAGGGCGCAC GCCGCGGAGC CACCGCCGAA ATGAAAGCTC ATTAGCATCT 
ACACTGAAGA CGCTCCTGTT CTTCACAGCT TTAATGATCA CTGTTCCTAT TGGGTTATAT 
TTCACAACTA AATCTTACAT ATTTGAAGGC GCCCTTGGGA TGTCCAATAG GGACAGCTAT 
TTTTACGCTG CTATTGTTGC AGTGGTCGCC GTCCATGTGG TGCTGGCCCT CTTTGTGTAT 
GTGGCCTGGA ATGAAGGCTC ACGACAGTGG CGTGAAGGCA AACAGGATTA A

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	XP_011529427.1
CDS	286..756
Translation	MLGSPCGPQLSDRDADEDQCSREFRGRRSRRPPRRTMLRGKSRLNVEWLGYSPGLLLEHRPLLAGRTPRSHRRNESSLASTLKTLLFFTALMITVPIGLYFTTKSYIFEGALGMSNRDSYFYAAIVAVVAVHVVLALFVYVAWNEGSRQWREGKQD

Target ORF information:

RefSeq Version	XM_011531125.2
Organism	Homo sapiens(human)
Definition	Homo sapiens VMA21 vacuolar H+-ATPase homolog (S. cerevisiae) (VMA21), transcript variant X1, mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

XM_011531125.2

ORF Insert Sequence:

ATGCTCGGGT CTCCTTGCGG CCCCCAGCTC AGCGACCGAG ACGCAGACGA GGACCAGTGT 
TCACGCGAGT TCAGGGGGCG GCGTAGCCGC CGCCCGCCCA GGAGGACCAT GTTGCGCGGC 
AAGTCCCGGC TCAACGTGGA GTGGCTGGGC TACTCGCCAG GCCTGCTCCT CGAGCACAGG 
CCCCTCCTGG CAGGGCGCAC GCCGCGGAGC CACCGCCGAA ATGAAAGCTC ATTAGCATCT 
ACACTGAAGA CGCTCCTGTT CTTCACAGCT TTAATGATCA CTGTTCCTAT TGGGTTATAT 
TTCACAACTA AATCTTACAT ATTTGAAGGC GCCCTTGGGA TGTCCAATAG GGACAGCTAT 
TTTTACGCTG CTATTGTTGC AGTGGTCGCC GTCCATGTGG TGCTGGCCCT CTTTGTGTAT 
GTGGCCTGGA ATGAAGGCTC ACGACAGTGG CGTGAAGGCA AACAGGATTA A

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

PubMed

Mutations in the X-linked
The Journal of experimental medicine214(12)3707-3729(2017 Dec)
Rujano MA,Cannata Serio M,Panasyuk G,P?anne R,Reunert J,Rymen D,Hauser V,Park JH,Freisinger P,Souche E,Guida MC,Maier EM,Wada Y,J?ger S,Krogan NJ,Kretz O,Nobre S,Garcia P,Quelhas D,Bird TD,Raskind WH,Schwake M,Duvet S,Foulquier F,Matthijs G,Marquardt T,Simons M

X-linked myopathy with excessive autophagy: a failure of self-eating.
Acta neuropathologica129(3)383-90(2015 Mar)
Dowling JJ,Moore SA,Kalimo H,Minassian BA

Elevated urinary ?2 microglobulin in the first identified Japanese family afflicted by X-linked myopathy with excessive autophagy.
Neuromuscular disorders : NMD23(11)911-6(2013 Nov)
Kurashige T,Takahashi T,Yamazaki Y,Nagano Y,Kondo K,Nakamura T,Yamawaki T,Tsuburaya R,Hayashi YK,Nonaka I,Nishino I,Matsumoto M

VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy.
Acta neuropathologica125(3)439-57(2013 Mar)
Ramachandran N,Munteanu I,Wang P,Ruggieri A,Rilstone JJ,Israelian N,Naranian T,Paroutis P,Guo R,Ren ZP,Nishino I,Chabrol B,Pellissier JF,Minetti C,Udd B,Fardeau M,Tailor CS,Mahuran DJ,Kissel JT,Kalimo H,Levy N,Manolson MF,Ackerley CA,Minassian BA

Impaired autophagy in sporadic inclusion-body myositis and in endoplasmic reticulum stress-provoked cultured human muscle fibers.
The American journal of pathology177(3)1377-87(2010 Sep)
Nogalska A,D'Agostino C,Terracciano C,Engel WK,Askanas V

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VMA21 cDNA ORF clone, Homo sapiens(human)

Gene

Clones

gRNAs

Related articles in PubMed

Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

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Services & Products

見積依頼

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FAX

オンラインフォーム