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Q8NEY4

- VATC2_HUMAN

UniProt

Q8NEY4 - VATC2_HUMAN

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Protein
V-type proton ATPase subunit C 2
Gene
ATP6V1C2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at transcript 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: UniProt

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: UniProt
  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: Chromosome 2

Organism-specific databases

HGNCiHGNC:18264. ATP6V1C2.

Subcellular locationi

GO - Cellular componenti

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

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA38514.

PTM / Processingi

Molecule processing

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

Protein-protein interaction databases

IntActiQ8NEY4. 2 interactions.
STRINGi9606.ENSP00000272238.

Structurei

3D structure databases

ProteinModelPortaliQ8NEY4.
SMRiQ8NEY4. Positions 7-383.

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG5127.
HOGENOMiHOG000207528.
HOVERGENiHBG002470.
InParanoidiQ8NEY4.
KOiK02148.
OMAiFMVREFY.
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. Align

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

MSEFWLISAP GDKENLQALE RMNTVTSKSN LSYNTKFAIP DFKVGTLDSL    50
VGLSDELGKL DTFAESLIRR MAQSVVEVME DSKGKVQEHL LANGVDLTSF 100
VTHFEWDMAK YPVKQPLVSV VDTIAKQLAQ IEMDLKSRTA AYNTLKTNLE 150
NLEKKSMGNL FTRTLSDIVS KEDFVLDSEY LVTLLVIVPK PNYSQWQKTY 200
ESLSDMVVPR STKLITEDKE GGLFTVTLFR KVIEDFKTKA KENKFTVREF 250
YYDEKEIERE REEMARLLSD KKQQYQTSCV ALKKGSSTFP DHKVKVTPLG 300
NPDRPAAGQT DRERESEGEG EGPLLRWLKV NFSEAFIAWI HIKALRVFVE 350
SVLRYGLPVN FQAVLLQPHK KSSTKRLREV LNSVFRHLDE VAATSILDAS 400
VEIPGLQLNN QDYFPYVYFH IDLSLLD 427
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.

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.
VSP_024883Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 databases

DMDMi146325814.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY039759 mRNA. Translation: AAK83464.1 .
AC092687 Genomic DNA. Translation: AAY24069.1 . Sequence problems.
BC012142 mRNA. Translation: AAH12142.1 .
CCDSi CCDS1674.1. [Q8NEY4-2 ]
CCDS42653.1. [Q8NEY4-1 ]
RefSeqi NP_001034451.1. NM_001039362.1. [Q8NEY4-1 ]
NP_653184.2. NM_144583.3. [Q8NEY4-2 ]
UniGenei Hs.580464.

3D structure databases

ProteinModelPortali Q8NEY4.
SMRi Q8NEY4. Positions 7-383.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

IntActi Q8NEY4. 2 interactions.
STRINGi 9606.ENSP00000272238.

Protein family/group databases

TCDBi 3.A.2.2.4. the h(+)- or na(+)-translocating f-type, v-type and a-type atpase (f-atpase) superfamily.

PTM databases

PhosphoSitei Q8NEY4.

Polymorphism databases

DMDMi 146325814.

Proteomic databases

MaxQBi Q8NEY4.
PaxDbi Q8NEY4.
PRIDEi Q8NEY4.

Protocols and materials databases

DNASUi 245973.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000272238 ; ENSP00000272238 ; ENSG00000143882 . [Q8NEY4-1 ]
ENST00000381661 ; ENSP00000371077 ; ENSG00000143882 . [Q8NEY4-2 ]
GeneIDi 245973.
KEGGi hsa:245973.
UCSCi uc002ras.3. human. [Q8NEY4-1 ]
uc002rat.3. human. [Q8NEY4-2 ]

Organism-specific databases

CTDi 245973.
GeneCardsi GC02P010861.
HGNCi HGNC:18264. ATP6V1C2.
HPAi HPA034734.
HPA034735.
neXtProti NX_Q8NEY4.
PharmGKBi PA38514.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5127.
HOGENOMi HOG000207528.
HOVERGENi HBG002470.
InParanoidi Q8NEY4.
KOi K02148.
OMAi FMVREFY.
OrthoDBi EOG7QNVKX.
PhylomeDBi Q8NEY4.
TreeFami TF314912.

Enzyme and pathway databases

BioCyci MetaCyc:HS07123-MONOMER.
Reactomei REACT_1109. Insulin receptor recycling.
REACT_121256. Phagosomal maturation (early endosomal stage).
REACT_25283. Transferrin endocytosis and recycling.

Miscellaneous databases

ChiTaRSi ATP6V1C2. human.
GeneWikii ATP6V1C2.
GenomeRNAii 245973.
NextBioi 91835.
PROi Q8NEY4.

Gene expression databases

Bgeei Q8NEY4.
CleanExi HS_ATP6V1C2.
Genevestigatori Q8NEY4.

Family and domain databases

InterProi IPR004907. ATPase_V1-cplx_csu.
[Graphical view ]
PANTHERi PTHR10137. PTHR10137. 1 hit.
Pfami PF03223. V-ATPase_C. 1 hit.
[Graphical view ]
ProtoNeti Search...

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: September 3, 2014
This is version 96 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

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