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Homo sapiens VMA21 vacuolar H+-ATPase homolog (S. cerevisiae) (VMA21), mRNA.


RefSeq Accession Definition Services Price Order
NM_001017980 Homo sapiens VMA21 vacuolar H+-ATPase homolog (S. cerevisiae) (VMA21), mRNA. ORF Sequence $159.00
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RefSeq Version NM_001017980.3, 260436829
Length 4760 bp
Structure linear
Update Date 29-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens VMA21 vacuolar H+-ATPase homolog (S. cerevisiae) (VMA21), mRNA.
Product vacuolar ATPase assembly integral membrane protein VMA21
Comment

Summary: This gene encodes a chaperone for assembly of lysosomal vacuolar ATPase.[provided by RefSeq, Jul 2012].


##Evidence-Data-START## Transcript exon combination :: AL833596.1, AK096835.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025082 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

RefSeq NP_001017980.1
CDS 125..430
Misc Feature(1)191..>319
Misc Feature(2)191..>319
Misc Feature(3)200..262
Misc Feature(4)320..382
Exon (1)1..177
Gene:VMA21
Gene Synonym:MEAX; XMEA
Exon (2)178..287
Gene:VMA21
Gene Synonym:MEAX; XMEA
Exon (3)288..4736
Gene:VMA21
Gene Synonym:MEAX; XMEA
Translation MERPDKAALNALQPPEFRNESSLASTLKTLLFFTALMITVPIGLYFTTKSYIFEGALGMS NRDSYFYAAIVAVVAVHVVLALFVYVAWNEGSRQWREGKQD
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Position Chain Variation Link
11+dbSNP:
11+c, tdbSNP:369991
46+c, tdbSNP:188254053
84+c, gdbSNP:112016770
111+g, tdbSNP:192786179
200+dbSNP:
200+a, gdbSNP:143565725
210+c, tdbSNP:148033471
226+a, gdbSNP:141809048
232+a, gdbSNP:185517317
268+g, tdbSNP:201487581
289+dbSNP:
289+c, tdbSNP:146017753
290+a, gdbSNP:140025330
306+a, gdbSNP:141926826
318+a, gdbSNP:146336700
349+c, tdbSNP:139323488
358+a, gdbSNP:199987906
367+c, tdbSNP:150003135
379+c, tdbSNP:201565563
506+a, gdbSNP:191937091
571+c, tdbSNP:146494103
642..643+, aattadbSNP:150170190
643..644+, ttaaadbSNP:138037107
645..646+, adbSNP:202068639
646..647+, aattadbSNP:57412333
1065+a, gdbSNP:141031699
1137+g, tdbSNP:183611158
1299+c, tdbSNP:3207598
1315+a, cdbSNP:188503869
1388+a, gdbSNP:5970036
1712+a, gdbSNP:193229751
1797+a, gdbSNP:185633245
1889+a, gdbSNP:189302172
1904+c, tdbSNP:191301448
1913+a, tdbSNP:75469696
1914..1915+, tdbSNP:35275320
1915+a, tdbSNP:78504946
2117+a, gdbSNP:183801280
2138+a, gdbSNP:188510420
2285+a, gdbSNP:7067140
2292+a, tdbSNP:150205644
2329+a, gdbSNP:181310196
2390+c, tdbSNP:7066731
2498+a, cdbSNP:35860657
2556+a, tdbSNP:186883339
2653+a, cdbSNP:190080635
2786+a, cdbSNP:182244739
2874+c, gdbSNP:41302170
2876+a, gdbSNP:187212963
2883+c, tdbSNP:189661830
2979+c, gdbSNP:180869527
3049+a, tdbSNP:176454
3255+g, tdbSNP:12854949
3285+c, tdbSNP:185462390
3484+a, gdbSNP:190173953
3516+c, tdbSNP:183110557
3783+c, tdbSNP:188543019
3786+c, gdbSNP:6627161
3822+c, tdbSNP:112595787
3889+c, gdbSNP:191626805
3939+a, cdbSNP:41314149
3978+c, gdbSNP:6627162
3980+a, gdbSNP:147083260
3989+c, tdbSNP:11555859
4002+c, gdbSNP:183880461
4025+g, tdbSNP:187756671
4087+c, tdbSNP:138457145
4452+a, gdbSNP:144010777
4455+g, tdbSNP:1048391
4460+a, cdbSNP:1048393
4462+c, gdbSNP:1048396
4464+g, tdbSNP:1048398
4469+a, cdbSNP:1048400
4587+a, gdbSNP:192677771
4609+c, tdbSNP:147315626
Gene SymbolVMA21
Gene SynonymMEAX; XMEA
ChromosomeX
Locus MapXq28
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_001017980 Homo sapiens VMA21 vacuolar H+-ATPase homolog (S. cerevisiae) (VMA21), mRNA. Full Length $1666.00
ORF Sequence $159.00
Title Impaired autophagy in sporadic inclusion-body myositis and in endoplasmic reticulum stress-provoked cultured human muscle fibers .
Author Nogalska,A., D'Agostino,C., Terracciano,C., Engel,W.K. and Askanas,V.
Journal Am. J. Pathol. 177 (3), 1377-1387 (2010)
Title VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification .
Author Ramachandran,N., Munteanu,I., Wang,P., Aubourg,P., Rilstone,J.J., Israelian,N., Naranian,T., Paroutis,P., Guo,R., Ren,Z.P., Nishino,I., Chabrol,B., Pellissier,J.F., Minetti,C., Udd,B., Fardeau,M., Tailor,C.S., Mahuran,D.J., Kissel,J.T., Kalimo,H., Levy,N., Manolson,M.F., Ackerley,C.A. and Minassian,B.A.
Journal Cell 137 (2), 235-246 (2009)
Title VMA21 deficiency: a case of myocyte indigestion .
Author Hirano,M. and DiMauro,S.
Journal Cell 137 (2), 213-215 (2009)
Title Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies .
Author Sugie,K., Noguchi,S., Kozuka,Y., Arikawa-Hirasawa,E., Tanaka,M., Yan,C., Saftig,P., von Figura,K., Hirano,M., Ueno,S., Nonaka,I. and Nishino,I.
Journal J. Neuropathol. Exp. Neurol. 64 (6), 513-522 (2005)
Title X-linked vacuolar myopathies: two separate loci and refined genetic mapping .
Author Auranen,M., Villanova,M., Muntoni,F., Fardeau,M., Scherer,S.W., Kalino,H. and Minassian,B.A.
Journal Ann. Neurol. 47 (5), 666-669 (2000)
Title Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28 .
Author Villard,L., des Portes,V., Levy,N., Louboutin,J.P., Recan,D., Coquet,M., Chabrol,B., Figarella-Branger,D., Chelly,J., Pellissier,J.F. and Fontes,M.
Journal Eur. J. Hum. Genet. 8 (2), 125-129 (2000)
Title Linkage studies in a new X-linked myopathy, suggesting exclusion of .
Author Saviranta,P., Lindlof,M., Lehesjoki,A.E., Kalimo,H., Lang,H., Sonninen,V., Savontaus,M.L. and de la Chapelle,A.
Journal Am. J. Hum. Genet. 42 (1), 84-88 (1988)

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