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Q9UI12

- VATH_HUMAN

UniProt

Q9UI12 - VATH_HUMAN

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Protein

V-type proton ATPase subunit H

Gene

ATP6V1H

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

Functioni

Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit H activates the ATPase activity of the enzyme and couples ATPase activity to proton flow. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system (By similarity). Involved in the endocytosis mediated by clathrin-coated pits, required for the formation of endosomes.By similarity

GO - Molecular functioni

  1. enzyme regulator activity Source: UniProtKB
  2. proton-transporting ATPase activity, rotational mechanism Source: InterPro

GO - Biological processi

  1. ATP catabolic process Source: GOC
  2. ATP hydrolysis coupled proton transport Source: UniProtKB
  3. cellular iron ion homeostasis Source: Reactome
  4. endocytosis Source: UniProtKB
  5. insulin receptor signaling pathway Source: Reactome
  6. interaction with host Source: Reactome
  7. phagosome maturation Source: Reactome
  8. regulation of catalytic activity Source: GOC
  9. regulation of defense response to virus by virus Source: Reactome
  10. transferrin transport Source: Reactome
  11. transmembrane transport Source: Reactome
  12. vacuolar acidification Source: UniProtKB
  13. viral process Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Host-virus interaction, Hydrogen ion transport, Ion transport, Transport

Enzyme and pathway databases

BioCyciMetaCyc:HS00586-MONOMER.
ReactomeiREACT_1109. Insulin receptor recycling.
REACT_11166. Nef Mediated CD4 Down-regulation.
REACT_11200. Nef Mediated CD8 Down-regulation.
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 H
Short name:
V-ATPase subunit H
Alternative name(s):
Nef-binding protein 1
Short name:
NBP1
Protein VMA13 homolog
V-ATPase 50/57 kDa subunits
Vacuolar proton pump subunit H
Vacuolar proton pump subunit SFD
Gene namesi
Name:ATP6V1H
ORF Names:CGI-11
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:18303. ATP6V1H.

Subcellular locationi

GO - Cellular componenti

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

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA38521.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 483483V-type proton ATPase subunit HPRO_0000124193Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei483 – 4831Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9UI12.
PaxDbiQ9UI12.
PRIDEiQ9UI12.

PTM databases

PhosphoSiteiQ9UI12.

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

BgeeiQ9UI12.
CleanExiHS_ATP6V1H.
ExpressionAtlasiQ9UI12. baseline and differential.
GenevestigatoriQ9UI12.

Organism-specific databases

HPAiCAB009532.
HPA023421.

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). Interacts with HIV-1 Nef protein and AP2M1.2 Publications

Protein-protein interaction databases

BioGridi119635. 29 interactions.
IntActiQ9UI12. 5 interactions.
MINTiMINT-5006690.
STRINGi9606.ENSP00000352522.

Structurei

3D structure databases

ProteinModelPortaliQ9UI12.
SMRiQ9UI12. Positions 227-465.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the V-ATPase H subunit family.Curated

Phylogenomic databases

eggNOGiCOG5231.
GeneTreeiENSGT00390000003289.
HOGENOMiHOG000007240.
HOVERGENiHBG000459.
InParanoidiQ9UI12.
KOiK02144.
OMAiDTLQENH.
OrthoDBiEOG7CCBQQ.
PhylomeDBiQ9UI12.
TreeFamiTF313488.

Family and domain databases

Gene3Di1.25.10.10. 1 hit.
1.25.40.150. 1 hit.
InterProiIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR004908. ATPase_V1-cplx_hsu.
IPR011987. ATPase_V1-cplx_hsu_C.
[Graphical view]
PANTHERiPTHR10698. PTHR10698. 1 hit.
PfamiPF11698. V-ATPase_H_C. 1 hit.
PF03224. V-ATPase_H_N. 1 hit.
[Graphical view]
PIRSFiPIRSF032184. ATPase_V1_H. 1 hit.
SUPFAMiSSF48371. SSF48371. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9UI12-1) [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
MTKMDIRGAV DAAVPTNIIA AKAAEVRANK VNWQSYLQGQ MISAEDCEFI
60 70 80 90 100
QRFEMKRSPE EKQEMLQTEG SQCAKTFINL MTHICKEQTV QYILTMVDDM
110 120 130 140 150
LQENHQRVSI FFDYARCSKN TAWPYFLPML NRQDPFTVHM AARIIAKLAA
160 170 180 190 200
WGKELMEGSD LNYYFNWIKT QLSSQKLRGS GVAVETGTVS SSDSSQYVQC
210 220 230 240 250
VAGCLQLMLR VNEYRFAWVE ADGVNCIMGV LSNKCGFQLQ YQMIFSIWLL
260 270 280 290 300
AFSPQMCEHL RRYNIIPVLS DILQESVKEK VTRIILAAFR NFLEKSTERE
310 320 330 340 350
TRQEYALAMI QCKVLKQLEN LEQQKYDDED ISEDIKFLLE KLGESVQDLS
360 370 380 390 400
SFDEYSSELK SGRLEWSPVH KSEKFWRENA VRLNEKNYEL LKILTKLLEV
410 420 430 440 450
SDDPQVLAVA AHDVGEYVRH YPRGKRVIEQ LGGKQLVMNH MHHEDQQVRY
460 470 480
NALLAVQKLM VHNWEYLGKQ LQSEQPQTAA ARS
Length:483
Mass (Da):55,883
Last modified:May 1, 2000 - v1
Checksum:iEAE0457C538AC906
GO
Isoform 2 (identifier: Q9UI12-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     176-193: Missing.

Show »
Length:465
Mass (Da):54,151
Checksum:i710D9FAE82982B7A
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti129 – 1291M → I in AAD27720. (PubMed:10810093)Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei176 – 19318Missing in isoform 2. 1 PublicationVSP_012274Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF113222 mRNA. Translation: AAG39293.1.
AF298777 mRNA. Translation: AAG22809.1.
AF112204 mRNA. Translation: AAF17192.1.
AF132945 mRNA. Translation: AAD27720.1.
AK022345 mRNA. Translation: BAG51072.1.
CH471068 Genomic DNA. Translation: EAW86727.1.
BC025275 mRNA. Translation: AAH25275.1.
CCDSiCCDS6153.1. [Q9UI12-1]
CCDS6154.1. [Q9UI12-2]
RefSeqiNP_057025.2. NM_015941.3. [Q9UI12-1]
NP_998784.1. NM_213619.2. [Q9UI12-2]
NP_998785.1. NM_213620.2. [Q9UI12-1]
XP_006716518.1. XM_006716455.1. [Q9UI12-2]
UniGeneiHs.491737.

Genome annotation databases

EnsembliENST00000355221; ENSP00000347359; ENSG00000047249. [Q9UI12-2]
ENST00000359530; ENSP00000352522; ENSG00000047249. [Q9UI12-1]
ENST00000396774; ENSP00000379995; ENSG00000047249. [Q9UI12-1]
GeneIDi51606.
KEGGihsa:51606.
UCSCiuc003xrk.4. human. [Q9UI12-1]
uc003xrn.4. human. [Q9UI12-2]

Polymorphism databases

DMDMi12643371.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF113222 mRNA. Translation: AAG39293.1 .
AF298777 mRNA. Translation: AAG22809.1 .
AF112204 mRNA. Translation: AAF17192.1 .
AF132945 mRNA. Translation: AAD27720.1 .
AK022345 mRNA. Translation: BAG51072.1 .
CH471068 Genomic DNA. Translation: EAW86727.1 .
BC025275 mRNA. Translation: AAH25275.1 .
CCDSi CCDS6153.1. [Q9UI12-1 ]
CCDS6154.1. [Q9UI12-2 ]
RefSeqi NP_057025.2. NM_015941.3. [Q9UI12-1 ]
NP_998784.1. NM_213619.2. [Q9UI12-2 ]
NP_998785.1. NM_213620.2. [Q9UI12-1 ]
XP_006716518.1. XM_006716455.1. [Q9UI12-2 ]
UniGenei Hs.491737.

3D structure databases

ProteinModelPortali Q9UI12.
SMRi Q9UI12. Positions 227-465.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 119635. 29 interactions.
IntActi Q9UI12. 5 interactions.
MINTi MINT-5006690.
STRINGi 9606.ENSP00000352522.

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 Q9UI12.

Polymorphism databases

DMDMi 12643371.

Proteomic databases

MaxQBi Q9UI12.
PaxDbi Q9UI12.
PRIDEi Q9UI12.

Protocols and materials databases

DNASUi 51606.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000355221 ; ENSP00000347359 ; ENSG00000047249 . [Q9UI12-2 ]
ENST00000359530 ; ENSP00000352522 ; ENSG00000047249 . [Q9UI12-1 ]
ENST00000396774 ; ENSP00000379995 ; ENSG00000047249 . [Q9UI12-1 ]
GeneIDi 51606.
KEGGi hsa:51606.
UCSCi uc003xrk.4. human. [Q9UI12-1 ]
uc003xrn.4. human. [Q9UI12-2 ]

Organism-specific databases

CTDi 51606.
GeneCardsi GC08M054678.
HGNCi HGNC:18303. ATP6V1H.
HPAi CAB009532.
HPA023421.
MIMi 608861. gene.
neXtProti NX_Q9UI12.
PharmGKBi PA38521.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5231.
GeneTreei ENSGT00390000003289.
HOGENOMi HOG000007240.
HOVERGENi HBG000459.
InParanoidi Q9UI12.
KOi K02144.
OMAi DTLQENH.
OrthoDBi EOG7CCBQQ.
PhylomeDBi Q9UI12.
TreeFami TF313488.

Enzyme and pathway databases

BioCyci MetaCyc:HS00586-MONOMER.
Reactomei REACT_1109. Insulin receptor recycling.
REACT_11166. Nef Mediated CD4 Down-regulation.
REACT_11200. Nef Mediated CD8 Down-regulation.
REACT_121256. Phagosomal maturation (early endosomal stage).
REACT_25283. Transferrin endocytosis and recycling.

Miscellaneous databases

ChiTaRSi ATP6V1H. human.
GeneWikii ATP6V1H.
GenomeRNAii 51606.
NextBioi 55498.
PROi Q9UI12.
SOURCEi Search...

Gene expression databases

Bgeei Q9UI12.
CleanExi HS_ATP6V1H.
ExpressionAtlasi Q9UI12. baseline and differential.
Genevestigatori Q9UI12.

Family and domain databases

Gene3Di 1.25.10.10. 1 hit.
1.25.40.150. 1 hit.
InterProi IPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR004908. ATPase_V1-cplx_hsu.
IPR011987. ATPase_V1-cplx_hsu_C.
[Graphical view ]
PANTHERi PTHR10698. PTHR10698. 1 hit.
Pfami PF11698. V-ATPase_H_C. 1 hit.
PF03224. V-ATPase_H_N. 1 hit.
[Graphical view ]
PIRSFi PIRSF032184. ATPase_V1_H. 1 hit.
SUPFAMi SSF48371. SSF48371. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    Tissue: Heart.
  2. "Interactions between HIV1 Nef and vacuolar ATPase facilitate the internalization of CD4."
    Lu X., Yu H., Liu S.-H., Brodsky F.M., Peterlin B.M.
    Immunity 8:647-656(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, INTERACTION WITH HIV-1 NEF.
    Tissue: B-cell.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Hypothalamus.
  4. "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics."
    Lai C.-H., Chou C.-Y., Ch'ang L.-Y., Liu C.-S., Lin W.-C.
    Genome Res. 10:703-713(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Mammary gland.
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "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 1).
    Tissue: Eye and Lymphoma.
  8. "Subunit H of the V-ATPase binds to the medium chain of adaptor protein complex 2 and connects Nef to the endocytic machinery."
    Geyer M., Yu H., Mandic R., Linnemann T., Zheng Y.-H., Fackler O.T., Peterlin B.M.
    J. Biol. Chem. 277:28521-28529(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH HIV-1 NEF AND AP2M1.
  9. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
    Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
    Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-483, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiVATH_HUMAN
AccessioniPrimary (citable) accession number: Q9UI12
Secondary accession number(s): B3KMR0
, Q6PK44, Q9H3E3, Q9Y300
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 24, 2001
Last sequence update: May 1, 2000
Last modified: October 29, 2014
This is version 138 of the entry and version 1 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 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3