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Q8NEY4 (VATC2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 92. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length427 AA.
Sequence statusComplete.
Protein existenceEvidence 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 a 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.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 427427V-type proton ATPase subunit C 2
PRO_0000285669

Natural variations

Alternative sequence276 – 32146Missing in isoform 2.
VSP_024883
Natural variant1431N → D. Ref.3
Corresponds to variant rs1198849 [ dbSNP | Ensembl ].
VAR_032041

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 1, 2007. Version 2.
Checksum: 7ED699EDD49CBC96

FASTA42748,759
        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 

« Hide

Isoform 2 [UniParc].

Checksum: D59165C7BBA67C89
Show »

FASTA38143,865

References

« Hide '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] [Europe PMC] [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. expand/collapse author list , 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] [Europe PMC] [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] [Europe PMC] [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.
RefSeqNP_001034451.1. NM_001039362.1.
NP_653184.2. NM_144583.3.
UniGeneHs.580464.

3D structure databases

ProteinModelPortalQ8NEY4.
SMRQ8NEY4. Positions 2-423.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActQ8NEY4. 2 interactions.
STRING9606.ENSP00000272238.

Protein family/group databases

TCDB3.A.2.2.4. the h(+)- or na(+)-translocating f-type, v-type and a-type atpase (f-atpase) superfamily.

PTM databases

PhosphoSiteQ8NEY4.

Polymorphism databases

DMDM146325814.

Proteomic databases

PaxDbQ8NEY4.
PRIDEQ8NEY4.

Protocols and materials databases

DNASU245973.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000272238; ENSP00000272238; ENSG00000143882. [Q8NEY4-1]
ENST00000381661; ENSP00000371077; ENSG00000143882. [Q8NEY4-2]
GeneID245973.
KEGGhsa:245973.
UCSCuc002ras.3. human. [Q8NEY4-1]
uc002rat.3. human. [Q8NEY4-2]

Organism-specific databases

CTD245973.
GeneCardsGC02P010861.
HGNCHGNC:18264. ATP6V1C2.
HPAHPA034734.
HPA034735.
neXtProtNX_Q8NEY4.
PharmGKBPA38514.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5127.
HOGENOMHOG000207528.
HOVERGENHBG002470.
InParanoidQ8NEY4.
KOK02148.
OMATRFEWDM.
OrthoDBEOG7QNVKX.
PhylomeDBQ8NEY4.
TreeFamTF314912.

Enzyme and pathway databases

BioCycMetaCyc:HS07123-MONOMER.
ReactomeREACT_111102. Signal Transduction.
REACT_116125. Disease.
REACT_15518. Transmembrane transport of small molecules.

Gene expression databases

BgeeQ8NEY4.
CleanExHS_ATP6V1C2.
GenevestigatorQ8NEY4.

Family and domain databases

InterProIPR004907. ATPase_V1-cplx_csu.
[Graphical view]
PANTHERPTHR10137. PTHR10137. 1 hit.
PfamPF03223. V-ATPase_C. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSATP6V1C2. human.
GeneWikiATP6V1C2.
GenomeRNAi245973.
NextBio91835.
PROQ8NEY4.

Entry information

Entry nameVATC2_HUMAN
AccessionPrimary (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: April 16, 2014
This is version 92 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM