Q8NEY4 (VATC2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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

Alternative name(s):
Vacuolar proton pump subunit C 2

Gene names

Name:

ATP6V1C2

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	427 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit C is necessary for the assembly of the catalytic sector of the enzyme and is likely to have a specific function in its catalytic activity. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.
Subunit structure	V-ATPase is an heteromultimeric enzyme composed of a peripheral catalytic V1 complex (components A to H) attached to an integral membrane V0 proton pore complex (components: a, c, c', c'' and d).
Tissue specificity	Kidney and placenta. Ref.1
Sequence similarities	Belongs to the V-ATPase C subunit family.
Sequence caution	The sequence AAY24069.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Biological process	Hydrogen ion transport Ion transport Transport
Coding sequence diversity	Alternative splicing Polymorphism
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	ATP hydrolysis coupled proton transport Inferred from electronic annotation. Source: InterPro cellular iron ion homeostasis Traceable author statement. Source: Reactome insulin receptor signaling pathway Traceable author statement. Source: Reactome transferrin transport Traceable author statement. Source: Reactome
Cellular component	cytosol Traceable author statement. Source: Reactome proton-transporting V-type ATPase, V1 domain Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8NEY4-1)

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: Q8NEY4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     276-321: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 427	427	V-type proton ATPase subunit C 2		PRO_0000285669
Natural variations
	Alternative sequence	276 – 321	46	Missing in isoform 2.		VSP_024883
	Natural variant	143	1	N → D. Ref.3 Corresponds to variant rs1198849 [ dbSNP | Ensembl ].		VAR_032041

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 1, 2007. Version 2. Checksum: 7ED699EDD49CBC96	FASTA	427	48,759
	10 20 30 40 50 60 MSEFWLISAP GDKENLQALE RMNTVTSKSN LSYNTKFAIP DFKVGTLDSL VGLSDELGKL 70 80 90 100 110 120 DTFAESLIRR MAQSVVEVME DSKGKVQEHL LANGVDLTSF VTHFEWDMAK YPVKQPLVSV 130 140 150 160 170 180 VDTIAKQLAQ IEMDLKSRTA AYNTLKTNLE NLEKKSMGNL FTRTLSDIVS KEDFVLDSEY 190 200 210 220 230 240 LVTLLVIVPK PNYSQWQKTY ESLSDMVVPR STKLITEDKE GGLFTVTLFR KVIEDFKTKA 250 260 270 280 290 300 KENKFTVREF YYDEKEIERE REEMARLLSD KKQQYQTSCV ALKKGSSTFP DHKVKVTPLG 310 320 330 340 350 360 NPDRPAAGQT DRERESEGEG EGPLLRWLKV NFSEAFIAWI HIKALRVFVE SVLRYGLPVN 370 380 390 400 410 420 FQAVLLQPHK KSSTKRLREV LNSVFRHLDE VAATSILDAS VEIPGLQLNN QDYFPYVYFH IDLSLLD
	Isoform 2 [UniParc]. Checksum: D59165C7BBA67C89	FASTA	381	43,865
	10 20 30 40 50 60 MSEFWLISAP GDKENLQALE RMNTVTSKSN LSYNTKFAIP DFKVGTLDSL VGLSDELGKL 70 80 90 100 110 120 DTFAESLIRR MAQSVVEVME DSKGKVQEHL LANGVDLTSF VTHFEWDMAK YPVKQPLVSV 130 140 150 160 170 180 VDTIAKQLAQ IEMDLKSRTA AYNTLKTNLE NLEKKSMGNL FTRTLSDIVS KEDFVLDSEY 190 200 210 220 230 240 LVTLLVIVPK PNYSQWQKTY ESLSDMVVPR STKLITEDKE GGLFTVTLFR KVIEDFKTKA 250 260 270 280 290 300 KENKFTVREF YYDEKEIERE REEMARLLSD KKQQYGPLLR WLKVNFSEAF IAWIHIKALR 310 320 330 340 350 360 VFVESVLRYG LPVNFQAVLL QPHKKSSTKR LREVLNSVFR HLDEVAATSI LDASVEIPGL 370 380 QLNNQDYFPY VYFHIDLSLL D

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Molecular cloning and characterization of novel tissue-specific isoforms of the human vacuolar H(+)-ATPase C, G and d subunits, and their evaluation in autosomal recessive distal renal tubular acidosis." Smith A.N., Borthwick K.J., Karet F.E. Gene 297:169-177(2002) [PubMed: 12384298] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), ALTERNATIVE SPLICING, TISSUE SPECIFICITY.
[2]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed: 15815621] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT ASP-143. Tissue: Eye.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY039759 mRNA. Translation: AAK83464.1. AC092687 Genomic DNA. Translation: AAY24069.1. Sequence problems. BC012142 mRNA. Translation: AAH12142.1.
IPI	IPI00302644. IPI00719217.
RefSeq	NP_001034451.1. NM_001039362.1. NP_653184.2. NM_144583.3.
UniGene	Hs.580464.
3D structure databases
HSSP	HSSP built from PDB template 1U7L based on UniProtKB P31412.
ProteinModelPortal	Q8NEY4.
SMR	Q8NEY4. Positions 2-423.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8NEY4. 1 interaction.
STRING	Q8NEY4.
Protein family/group databases
TCDB	3.A.2.2.4. H+- or Na+-translocating F-type, V-type and A-type ATPase (F-ATPase) superfamily.
Polymorphism databases
DMDM	146325814.
Proteomic databases
PRIDE	Q8NEY4.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000272238; ENSP00000272238; ENSG00000143882.
GeneID	245973.
KEGG	hsa:245973.
UCSC	uc002ras.1. human. uc002rat.1. human.
Organism-specific databases
CTD	245973.
GeneCards	GC02P010861.
HGNC	HGNC:18264. ATP6V1C2.
HPA	HPA034735.
neXtProt	NX_Q8NEY4.
PharmGKB	PA38514.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG12027.
GeneTree	ENSGT00390000004263.
HOGENOM	HBG388608.
HOVERGEN	HBG002470.
InParanoid	Q8NEY4.
OMA	KLIAEDN.
OrthoDB	EOG4X3H1C.
PhylomeDB	Q8NEY4.
Enzyme and pathway databases
Reactome	REACT_111102. Signal Transduction. REACT_15518. Transmembrane transport of small molecules.
Gene expression databases
ArrayExpress	Q8NEY4.
Bgee	Q8NEY4.
CleanEx	HS_ATP6V1C2.
Genevestigator	Q8NEY4.
Family and domain databases
InterPro	IPR004907. ATPase_V1-cplx_csu. [Graphical view]
KO	K02148.
PANTHER	PTHR10137. ATPase_V1_c. 1 hit.
Pfam	PF03223. V-ATPase_C. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	91835.

Entry information

Entry name

VATC2_HUMAN

Accession

Primary (citable) accession number: Q8NEY4
Secondary accession number(s): Q96EL8

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 1, 2007
Last sequence update:	May 1, 2007
Last modified:	January 25, 2012
This is version 69 of the entry and version 2 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.