Q8NHE4 (VA0E2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
V-type proton ATPase subunit e 2
Short name=V-ATPase subunit e 2

Alternative name(s):
Lysosomal 9 kDa H(+)-transporting ATPase V0 subunit e2
Vacuolar proton pump subunit e 2

Gene names

Name:	ATP6V0E2
Synonyms:	ATP6V0E2L, C7orf32

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	81 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells By similarity.
Subunit structure	Composed of at least 10 subunits.
Subcellular location	Membrane; Multi-pass membrane protein Potential.
Tissue specificity	Isoform 1 is expressed at high levels in heart, brain and kidney and also detected in inner ear epithelium, vestibule, testis, epididymis and bladder. Isoform 2 is expressed in heart, kidney, placenta and pancreas. Isoform 2 is not detected in frontal cortex, but is prevalent in all other brain areas. Ref.1
Sequence similarities	Belongs to the V-ATPase e1/e2 subunit family.
Sequence caution	The sequence AAP97693.1 differs from that shown. Reason: Frameshift at positions 80 and 108. The sequence AAQ96859.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence BAC05292.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. The sequence CAE45916.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
Biological process	Hydrogen ion transport Ion transport Transport
Cellular component	Membrane
Coding sequence diversity	Alternative splicing
Domain	Transmembrane Transmembrane helix
Molecular function	Hydrolase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	ATP hydrolysis coupled proton transport Inferred from electronic annotation. Source: InterPro cell growth Inferred from genetic interaction Ref.1. Source: UniProtKB cellular iron ion homeostasis Traceable author statement. Source: Reactome insulin receptor signaling pathway Traceable author statement. Source: Reactome interaction with host Traceable author statement. Source: Reactome phagosome maturation Traceable author statement. Source: Reactome transferrin transport Traceable author statement. Source: Reactome vacuolar acidification Inferred from sequence or structural similarity. Source: UniProtKB
Cellular_component	endosome membrane Traceable author statement. Source: Reactome integral to membrane Non-traceable author statement Ref.1. Source: UniProtKB phagocytic vesicle membrane Traceable author statement. Source: Reactome proton-transporting V-type ATPase, V0 domain Inferred from electronic annotation. Source: InterPro
Molecular_function	ATPase activity, coupled to transmembrane movement of ions Inferred from sequence or structural similarity. Source: UniProtKB hydrogen ion transmembrane transporter activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8NHE4-1)

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.

Isoform 2 (identifier: Q8NHE4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     51-81: FWLIAILAQLNPLFGPQLKNETIWYVRFLWE → LCPALGMTVA...TGQMPGLSPS

Isoform 3 (identifier: Q8NHE4-3)

The sequence of this isoform differs from the canonical sequence as follows:
     75-81: YVRFLWE → CPALGMTVAP...TGQMPGLSPS

Note: May be due to a competing donor splice site.

Isoform 4 (identifier: Q8NHE4-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MRVRGPARLIASGARLLLRMLSALPGWGPAHLQRPLLGPASCLGILRPAM

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 81	81	V-type proton ATPase subunit e 2		PRO_0000270199
Regions
	Transmembrane	8 – 28	21	Helical; Potential
	Transmembrane	36 – 56	21	Helical; Potential
Natural variations
	Alternative sequence	1	1	M → MRVRGPARLIASGARLLLRM LSALPGWGPAHLQRPLLGPA SCLGILRPAM in isoform 4.		VSP_044857
	Alternative sequence	51 – 81	31	FWLIA…RFLWE → LCPALGMTVAPLSLTTPSSG PSPTQLCLVTSSLLLAPRDP DPQGLPGSWKSSQSSQPARA LGSPGHSSGRGDVLLQYPHC SGVCPLSQGDAAGELVWVGS FPLQTGQMPGLSPS in isoform 2.		VSP_027104
	Alternative sequence	75 – 81	7	YVRFLWE → CPALGMTVAPLSLTTPSSGP SPTQLCLVTSSLLLAPRDPD PQGLPGSWKSSQSSQPARAL GSPGHSSGRGDVLLQYPHCS GVCPLSQGDAAGELVWVGSF PLQTGQMPGLSPS in isoform 3.		VSP_027105

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 2002. Version 1. Checksum: FACC53CB431BA445	FASTA	81	9,184
	10 20 30 40 50 60 MTAHSFALPV IIFTTFWGLV GIAGPWFVPK GPNRGVIITM LVATAVCCYL FWLIAILAQL 70 80 NPLFGPQLKN ETIWYVRFLW E
	Isoform 2 [UniParc]. Checksum: D892E2C67F207776	FASTA	164	16,855
	10 20 30 40 50 60 MTAHSFALPV IIFTTFWGLV GIAGPWFVPK GPNRGVIITM LVATAVCCYL LCPALGMTVA 70 80 90 100 110 120 PLSLTTPSSG PSPTQLCLVT SSLLLAPRDP DPQGLPGSWK SSQSSQPARA LGSPGHSSGR 130 140 150 160 GDVLLQYPHC SGVCPLSQGD AAGELVWVGS FPLQTGQMPG LSPS
	Isoform 3 [UniParc]. Checksum: 6F9D4ACD50C88153	FASTA	187	19,550
	10 20 30 40 50 60 MTAHSFALPV IIFTTFWGLV GIAGPWFVPK GPNRGVIITM LVATAVCCYL FWLIAILAQL 70 80 90 100 110 120 NPLFGPQLKN ETIWCPALGM TVAPLSLTTP SSGPSPTQLC LVTSSLLLAP RDPDPQGLPG 130 140 150 160 170 180 SWKSSQSSQP ARALGSPGHS SGRGDVLLQY PHCSGVCPLS QGDAAGELVW VGSFPLQTGQ MPGLSPS
	Isoform 4 [UniParc]. Checksum: 2F88D3232A67D1EB	FASTA	130	14,348
	10 20 30 40 50 60 MRVRGPARLI ASGARLLLRM LSALPGWGPA HLQRPLLGPA SCLGILRPAM TAHSFALPVI 70 80 90 100 110 120 IFTTFWGLVG IAGPWFVPKG PNRGVIITML VATAVCCYLF WLIAILAQLN PLFGPQLKNE 130 TIWYVRFLWE

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Molecular cloning and characterization of a novel form of the human vacuolar H+-ATPase e-subunit: an essential proton pump component." Blake-Palmer K.G., Su Y., Smith A.N., Karet F.E. Gene 393:94-100(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [MRNA] OF 1-61 (ISOFORM 2), TISSUE SPECIFICITY. Tissue: Brain.
[2]	Li N., Wan T., Zhang M., Zhang W., Cao X. Submitted (MAY-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[3]	Zan Q., Guo J.H., Yu L. Submitted (NOV-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4). Tissue: Placenta.
[4]	"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 3).
[5]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Cerebellum.
[6]	"The DNA sequence of human chromosome 7." Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K. Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

Cross-references

Sequence databases
EMBL GenBank DDBJ	DQ995344 mRNA. Translation: ABK76305.1. DQ989009 mRNA. Translation: ABK88279.1. AY037164 mRNA. Translation: AAK67647.1. AF452639 mRNA. Translation: AAP97693.1. Frameshift. AK098362 mRNA. Translation: BAC05292.1. Different initiation. BX640846 mRNA. Translation: CAE45916.1. Different initiation. AC093458 Genomic DNA. Translation: AAQ96859.1. Sequence problems.
IPI	IPI00413616. IPI00640032. IPI00854692. IPI00942017.
RefSeq	NP_001094062.1. NM_001100592.1. NP_660265.2. NM_145230.2.
UniGene	Hs.698060.
3D structure databases
ProteinModelPortal	Q8NHE4.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000411672.
Polymorphism databases
DMDM	74715659.
Proteomic databases
PRIDE	Q8NHE4.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000425642; ENSP00000396148; ENSG00000171130. ENST00000456496; ENSP00000410220; ENSG00000171130. ENST00000471877; ENSP00000420679; ENSG00000171130. ENST00000479613; ENSP00000417939; ENSG00000171130.
GeneID	155066.
KEGG	hsa:155066.
UCSC	uc003wgr.3. human.
Organism-specific databases
CTD	155066.
GeneCards	GC07P149570.
H-InvDB	HIX0007198.
HGNC	HGNC:21723. ATP6V0E2.
MIM	611019. gene.
neXtProt	NX_Q8NHE4.
PharmGKB	PA162377277.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG293344.
HOGENOM	HOG000265078.
HOVERGEN	HBG003974.
KO	K02153.
OMA	CTAVCCY.
Enzyme and pathway databases
BioCyc	MetaCyc:HS15951-MONOMER.
Reactome	REACT_111102. Signal Transduction. REACT_116125. Disease. REACT_15518. Transmembrane transport of small molecules.
Gene expression databases
ArrayExpress	Q8NHE4.
Bgee	Q8NHE4.
CleanEx	HS_ATP6V0E2.
Genevestigator	Q8NHE4.
Family and domain databases
InterPro	IPR008389. ATPase_V0-cplx_e1/e2_su. IPR017385. ATPase_V0-cplx_e1/e2_su_met. [Graphical view]
PANTHER	PTHR12263. PTHR12263. 1 hit.
Pfam	PF05493. ATP_synt_H. 1 hit. [Graphical view]
PIRSF	PIRSF038097. V-ATP_synth_e1/e2. 1 hit.
ProtoNet	Search...
Other
ChiTaRS	ATP6V0E2. human.
GenomeRNAi	155066.
NextBio	35535430.
SOURCE	Search...

Entry information

Entry name

VA0E2_HUMAN

Accession

Primary (citable) accession number: Q8NHE4
Secondary accession number(s): A2T863 , A2T8L7, B5MDP5, J3KQW7, Q6MZW1, Q75L47, Q7Z4R7, Q8N7I8

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 9, 2007
Last sequence update:	October 1, 2002
Last modified:	May 29, 2013
This is version 72 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.