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Protein

V-type proton ATPase subunit C 2

Gene

ATP6V1C2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.

GO - Molecular functioni

  1. hydrogen-exporting ATPase activity, phosphorylative mechanism Source: Ensembl
  2. protein dimerization activity Source: UniProtKB

GO - Biological processi

  1. ATP hydrolysis coupled proton transport Source: InterPro
  2. cellular iron ion homeostasis Source: Reactome
  3. insulin receptor signaling pathway Source: Reactome
  4. interaction with host Source: Reactome
  5. phagosome maturation Source: Reactome
  6. positive regulation of Wnt signaling pathway Source: UniProtKB
  7. transferrin transport Source: Reactome
  8. transmembrane transport Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Hydrogen ion transport, Ion transport, Transport

Enzyme and pathway databases

BioCyciMetaCyc:HS07123-MONOMER.
ReactomeiREACT_1109. Insulin receptor recycling.
REACT_121256. Phagosomal maturation (early endosomal stage).
REACT_25283. Transferrin endocytosis and recycling.

Protein family/group databases

TCDBi3.A.2.2.4. the h(+)- or na(+)-translocating f-type, v-type and a-type atpase (f-atpase) superfamily.

Names & Taxonomyi

Protein namesi
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 namesi
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:18264. ATP6V1C2.

Subcellular locationi

GO - Cellular componenti

  1. cytosol Source: Reactome
  2. extracellular vesicular exosome Source: UniProtKB
  3. lysosomal membrane Source: UniProtKB
  4. proton-transporting V-type ATPase, V1 domain Source: InterPro
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA38514.

Polymorphism and mutation databases

BioMutaiATP6V1C2.
DMDMi146325814.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 427427V-type proton ATPase subunit C 2PRO_0000285669Add
BLAST

Proteomic databases

MaxQBiQ8NEY4.
PaxDbiQ8NEY4.
PRIDEiQ8NEY4.

PTM databases

PhosphoSiteiQ8NEY4.

Expressioni

Tissue specificityi

Kidney and placenta.1 Publication

Gene expression databases

BgeeiQ8NEY4.
CleanExiHS_ATP6V1C2.
GenevestigatoriQ8NEY4.

Organism-specific databases

HPAiHPA034734.
HPA034735.

Interactioni

Subunit structurei

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).

Binary interactionsi

WithEntry#Exp.IntActNotes
GOLGA2Q083793EBI-10270867,EBI-618309

Protein-protein interaction databases

BioGridi128859. 19 interactions.
IntActiQ8NEY4. 2 interactions.
STRINGi9606.ENSP00000272238.

Structurei

3D structure databases

ProteinModelPortaliQ8NEY4.
SMRiQ8NEY4. Positions 7-383.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the V-ATPase C subunit family.Curated

Phylogenomic databases

eggNOGiCOG5127.
GeneTreeiENSGT00390000004263.
HOGENOMiHOG000207528.
HOVERGENiHBG002470.
InParanoidiQ8NEY4.
KOiK02148.
OMAiNSEYLIT.
OrthoDBiEOG7QNVKX.
PhylomeDBiQ8NEY4.
TreeFamiTF314912.

Family and domain databases

InterProiIPR004907. ATPase_V1-cplx_csu.
[Graphical view]
PANTHERiPTHR10137. PTHR10137. 1 hit.
PfamiPF03223. V-ATPase_C. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8NEY4-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MSEFWLISAP GDKENLQALE RMNTVTSKSN LSYNTKFAIP DFKVGTLDSL
60 70 80 90 100
VGLSDELGKL DTFAESLIRR MAQSVVEVME DSKGKVQEHL LANGVDLTSF
110 120 130 140 150
VTHFEWDMAK YPVKQPLVSV VDTIAKQLAQ IEMDLKSRTA AYNTLKTNLE
160 170 180 190 200
NLEKKSMGNL FTRTLSDIVS KEDFVLDSEY LVTLLVIVPK PNYSQWQKTY
210 220 230 240 250
ESLSDMVVPR STKLITEDKE GGLFTVTLFR KVIEDFKTKA KENKFTVREF
260 270 280 290 300
YYDEKEIERE REEMARLLSD KKQQYQTSCV ALKKGSSTFP DHKVKVTPLG
310 320 330 340 350
NPDRPAAGQT DRERESEGEG EGPLLRWLKV NFSEAFIAWI HIKALRVFVE
360 370 380 390 400
SVLRYGLPVN FQAVLLQPHK KSSTKRLREV LNSVFRHLDE VAATSILDAS
410 420
VEIPGLQLNN QDYFPYVYFH IDLSLLD
Length:427
Mass (Da):48,759
Last modified:May 1, 2007 - v2
Checksum:i7ED699EDD49CBC96
GO
Isoform 2 (identifier: Q8NEY4-2) [UniParc]FASTAAdd to basket

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

Show »
Length:381
Mass (Da):43,865
Checksum:iD59165C7BBA67C89
GO

Sequence cautioni

The sequence AAY24069.1 differs from that shown. Reason: Erroneous gene model prediction. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti143 – 1431N → D.1 Publication
Corresponds to variant rs1198849 [ dbSNP | Ensembl ].
VAR_032041

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei276 – 32146Missing in isoform 2. 2 PublicationsVSP_024883Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY039759 mRNA. Translation: AAK83464.1.
AC092687 Genomic DNA. Translation: AAY24069.1. Sequence problems.
BC012142 mRNA. Translation: AAH12142.1.
CCDSiCCDS1674.1. [Q8NEY4-2]
CCDS42653.1. [Q8NEY4-1]
RefSeqiNP_001034451.1. NM_001039362.1. [Q8NEY4-1]
NP_653184.2. NM_144583.3. [Q8NEY4-2]
UniGeneiHs.580464.

Genome annotation databases

EnsembliENST00000272238; ENSP00000272238; ENSG00000143882. [Q8NEY4-1]
ENST00000381661; ENSP00000371077; ENSG00000143882. [Q8NEY4-2]
GeneIDi245973.
KEGGihsa:245973.
UCSCiuc002ras.3. human. [Q8NEY4-1]
uc002rat.3. human. [Q8NEY4-2]

Polymorphism and mutation databases

BioMutaiATP6V1C2.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY039759 mRNA. Translation: AAK83464.1.
AC092687 Genomic DNA. Translation: AAY24069.1. Sequence problems.
BC012142 mRNA. Translation: AAH12142.1.
CCDSiCCDS1674.1. [Q8NEY4-2]
CCDS42653.1. [Q8NEY4-1]
RefSeqiNP_001034451.1. NM_001039362.1. [Q8NEY4-1]
NP_653184.2. NM_144583.3. [Q8NEY4-2]
UniGeneiHs.580464.

3D structure databases

ProteinModelPortaliQ8NEY4.
SMRiQ8NEY4. Positions 7-383.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128859. 19 interactions.
IntActiQ8NEY4. 2 interactions.
STRINGi9606.ENSP00000272238.

Protein family/group databases

TCDBi3.A.2.2.4. the h(+)- or na(+)-translocating f-type, v-type and a-type atpase (f-atpase) superfamily.

PTM databases

PhosphoSiteiQ8NEY4.

Polymorphism and mutation databases

BioMutaiATP6V1C2.
DMDMi146325814.

Proteomic databases

MaxQBiQ8NEY4.
PaxDbiQ8NEY4.
PRIDEiQ8NEY4.

Protocols and materials databases

DNASUi245973.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000272238; ENSP00000272238; ENSG00000143882. [Q8NEY4-1]
ENST00000381661; ENSP00000371077; ENSG00000143882. [Q8NEY4-2]
GeneIDi245973.
KEGGihsa:245973.
UCSCiuc002ras.3. human. [Q8NEY4-1]
uc002rat.3. human. [Q8NEY4-2]

Organism-specific databases

CTDi245973.
GeneCardsiGC02P010861.
HGNCiHGNC:18264. ATP6V1C2.
HPAiHPA034734.
HPA034735.
neXtProtiNX_Q8NEY4.
PharmGKBiPA38514.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG5127.
GeneTreeiENSGT00390000004263.
HOGENOMiHOG000207528.
HOVERGENiHBG002470.
InParanoidiQ8NEY4.
KOiK02148.
OMAiNSEYLIT.
OrthoDBiEOG7QNVKX.
PhylomeDBiQ8NEY4.
TreeFamiTF314912.

Enzyme and pathway databases

BioCyciMetaCyc:HS07123-MONOMER.
ReactomeiREACT_1109. Insulin receptor recycling.
REACT_121256. Phagosomal maturation (early endosomal stage).
REACT_25283. Transferrin endocytosis and recycling.

Miscellaneous databases

ChiTaRSiATP6V1C2. human.
GeneWikiiATP6V1C2.
GenomeRNAii245973.
NextBioi91835.
PROiQ8NEY4.

Gene expression databases

BgeeiQ8NEY4.
CleanExiHS_ATP6V1C2.
GenevestigatoriQ8NEY4.

Family and domain databases

InterProiIPR004907. ATPase_V1-cplx_csu.
[Graphical view]
PANTHERiPTHR10137. PTHR10137. 1 hit.
PfamiPF03223. V-ATPase_C. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.

Entry informationi

Entry nameiVATC2_HUMAN
AccessioniPrimary (citable) accession number: Q8NEY4
Secondary accession number(s): Q96EL8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 1, 2007
Last sequence update: May 1, 2007
Last modified: April 29, 2015
This is version 101 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.