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Protein

V-type proton ATPase subunit C 2

Gene

ATP6V1C2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

GO - Biological processi

  • ATP hydrolysis coupled proton transport Source: InterPro
  • insulin receptor signaling pathway Source: Reactome
  • ion transmembrane transport Source: Reactome
  • positive regulation of Wnt signaling pathway Source: UniProtKB
  • regulation of macroautophagy Source: ParkinsonsUK-UCL
  • transferrin transport Source: Reactome

Keywordsi

Biological processHydrogen ion transport, Ion transport, Transport

Enzyme and pathway databases

BioCyciMetaCyc:HS07123-MONOMER
ReactomeiR-HSA-1222556 ROS, RNS production in phagocytes
R-HSA-77387 Insulin receptor recycling
R-HSA-917977 Transferrin endocytosis and recycling
R-HSA-983712 Ion channel transport

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
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000143882.10
HGNCiHGNC:18264 ATP6V1C2
neXtProtiNX_Q8NEY4

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Organism-specific databases

DisGeNETi245973
OpenTargetsiENSG00000143882
PharmGKBiPA38514

Polymorphism and mutation databases

BioMutaiATP6V1C2
DMDMi146325814

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002856691 – 427V-type proton ATPase subunit C 2Add BLAST427

Proteomic databases

EPDiQ8NEY4
MaxQBiQ8NEY4
PaxDbiQ8NEY4
PeptideAtlasiQ8NEY4
PRIDEiQ8NEY4

PTM databases

iPTMnetiQ8NEY4
PhosphoSitePlusiQ8NEY4

Expressioni

Tissue specificityi

Kidney and placenta.1 Publication

Gene expression databases

BgeeiENSG00000143882
CleanExiHS_ATP6V1C2
ExpressionAtlasiQ8NEY4 baseline and differential
GenevisibleiQ8NEY4 HS

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
GOLGA2Q083795EBI-10270867,EBI-618309

GO - Molecular functioni

  • protein dimerization activity Source: UniProtKB

Protein-protein interaction databases

BioGridi128859, 26 interactors
IntActiQ8NEY4, 16 interactors
MINTiQ8NEY4
STRINGi9606.ENSP00000272238

Structurei

3D structure databases

ProteinModelPortaliQ8NEY4
SMRiQ8NEY4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the V-ATPase C subunit family.Curated

Phylogenomic databases

eggNOGiKOG2909 Eukaryota
COG5127 LUCA
GeneTreeiENSGT00390000004263
HOGENOMiHOG000207528
HOVERGENiHBG002470
InParanoidiQ8NEY4
KOiK02148
OrthoDBiEOG091G03CP
PhylomeDBiQ8NEY4
TreeFamiTF314912

Family and domain databases

CDDicd14785 V-ATPase_C, 1 hit
InterProiView protein in InterPro
IPR004907 ATPase_V1-cplx_csu
IPR036132 Vac_ATP_synth_c_sf
PANTHERiPTHR10137 PTHR10137, 1 hit
PfamiView protein in Pfam
PF03223 V-ATPase_C, 1 hit
SUPFAMiSSF118203 SSF118203, 2 hits

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 differs from that shown. Reason: Erroneous gene model prediction.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_032041143N → D1 PublicationCorresponds to variant dbSNP:rs1198849Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_024883276 – 321Missing in isoform 2. 2 PublicationsAdd BLAST46

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]
XP_016859234.1, XM_017003745.1 [Q8NEY4-1]
UniGeneiHs.580464

Genome annotation databases

EnsembliENST00000272238; ENSP00000272238; ENSG00000143882 [Q8NEY4-1]
ENST00000381661; ENSP00000371077; ENSG00000143882 [Q8NEY4-2]
GeneIDi245973
KEGGihsa:245973
UCSCiuc002ras.4 human [Q8NEY4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiVATC2_HUMAN
AccessioniPrimary (citable) accession number: Q8NEY4
Secondary accession number(s): Q96EL8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 1, 2007
Last sequence update: May 1, 2007
Last modified: May 23, 2018
This is version 128 of the entry and version 2 of the sequence. See 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

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