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Protein

V-type proton ATPase subunit H

Gene

ATP6V1H

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

  • enzyme regulator activity Source: UniProtKB
  • proton-transporting ATPase activity, rotational mechanism Source: InterPro

GO - Biological processi

Keywordsi

Biological processHost-virus interaction, Hydrogen ion transport, Ion transport, Transport

Enzyme and pathway databases

BioCyciMetaCyc:HS00586-MONOMER
ReactomeiR-HSA-1222556 ROS, RNS production in phagocytes
R-HSA-167590 Nef Mediated CD4 Down-regulation
R-HSA-182218 Nef Mediated CD8 Down-regulation
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 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
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000047249.16
HGNCiHGNC:18303 ATP6V1H
MIMi608861 gene
neXtProtiNX_Q9UI12

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

DisGeNETi51606
OpenTargetsiENSG00000047249
PharmGKBiPA38521

Polymorphism and mutation databases

BioMutaiATP6V1H
DMDMi12643371

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001241931 – 483V-type proton ATPase subunit HAdd BLAST483

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei483PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9UI12
PaxDbiQ9UI12
PeptideAtlasiQ9UI12
PRIDEiQ9UI12
ProteomicsDBi84451
84452 [Q9UI12-2]

PTM databases

iPTMnetiQ9UI12
PhosphoSitePlusiQ9UI12
SwissPalmiQ9UI12

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

BgeeiENSG00000047249 Expressed in 229 organ(s), highest expression level in corpus callosum
CleanExiHS_ATP6V1H
ExpressionAtlasiQ9UI12 baseline and differential
GenevisibleiQ9UI12 HS

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 AP2M1 (PubMed:12032142). Interacts with TM9SF4 in colon cancer cells (PubMed:25659576).2 Publications
(Microbial infection) Interacts with HIV-1 Nef protein.2 Publications

Protein-protein interaction databases

BioGridi119635, 49 interactors
IntActiQ9UI12, 23 interactors
STRINGi9606.ENSP00000352522

Structurei

3D structure databases

ProteinModelPortaliQ9UI12
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the V-ATPase H subunit family.Curated

Phylogenomic databases

eggNOGiKOG2759 Eukaryota
COG5231 LUCA
GeneTreeiENSGT00390000003289
HOGENOMiHOG000007240
HOVERGENiHBG000459
InParanoidiQ9UI12
KOiK02144
OMAiFHETAGK
OrthoDBiEOG091G0NQW
PhylomeDBiQ9UI12
TreeFamiTF313488

Family and domain databases

Gene3Di1.25.10.10, 1 hit
1.25.40.150, 1 hit
InterProiView protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR004908 ATPase_V1-cplx_hsu
IPR011987 ATPase_V1-cplx_hsu_C
IPR038497 ATPase_V1-cplx_hsu_C_sf
PANTHERiPTHR10698 PTHR10698, 1 hit
PfamiView protein in Pfam
PF11698 V-ATPase_H_C, 1 hit
PF03224 V-ATPase_H_N, 1 hit
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. AlignAdd to basket

This entry has 2 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V126G3V126_HUMAN
V-type proton ATPase subunit H
ATP6V1H hCG_27354
443Annotation score:
E5RHH0E5RHH0_HUMAN
V-type proton ATPase subunit H
ATP6V1H
102Annotation score:
H0YB41H0YB41_HUMAN
V-type proton ATPase subunit H
ATP6V1H
86Annotation score:
E5RG49E5RG49_HUMAN
V-type proton ATPase subunit H
ATP6V1H
101Annotation score:
E5RJG1E5RJG1_HUMAN
V-type proton ATPase subunit H
ATP6V1H
48Annotation score:
E5RK31E5RK31_HUMAN
V-type proton ATPase subunit H
ATP6V1H
36Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti129M → I in AAD27720 (PubMed:10810093).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_012274176 – 193Missing in isoform 2. 1 PublicationAdd BLAST18

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_006716455.2 [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
UCSCiuc003xrl.5 human [Q9UI12-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_006716455.2 [Q9UI12-2]
UniGeneiHs.491737

3D structure databases

ProteinModelPortaliQ9UI12
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119635, 49 interactors
IntActiQ9UI12, 23 interactors
STRINGi9606.ENSP00000352522

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

iPTMnetiQ9UI12
PhosphoSitePlusiQ9UI12
SwissPalmiQ9UI12

Polymorphism and mutation databases

BioMutaiATP6V1H
DMDMi12643371

Proteomic databases

EPDiQ9UI12
PaxDbiQ9UI12
PeptideAtlasiQ9UI12
PRIDEiQ9UI12
ProteomicsDBi84451
84452 [Q9UI12-2]

Protocols and materials databases

DNASUi51606
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000355221; ENSP00000347359; ENSG00000047249 [Q9UI12-2]
ENST00000359530; ENSP00000352522; ENSG00000047249 [Q9UI12-1]
ENST00000396774; ENSP00000379995; ENSG00000047249 [Q9UI12-1]
GeneIDi51606
KEGGihsa:51606
UCSCiuc003xrl.5 human [Q9UI12-1]

Organism-specific databases

CTDi51606
DisGeNETi51606
EuPathDBiHostDB:ENSG00000047249.16
GeneCardsiATP6V1H
HGNCiHGNC:18303 ATP6V1H
HPAiCAB009532
HPA023421
MIMi608861 gene
neXtProtiNX_Q9UI12
OpenTargetsiENSG00000047249
PharmGKBiPA38521
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2759 Eukaryota
COG5231 LUCA
GeneTreeiENSGT00390000003289
HOGENOMiHOG000007240
HOVERGENiHBG000459
InParanoidiQ9UI12
KOiK02144
OMAiFHETAGK
OrthoDBiEOG091G0NQW
PhylomeDBiQ9UI12
TreeFamiTF313488

Enzyme and pathway databases

BioCyciMetaCyc:HS00586-MONOMER
ReactomeiR-HSA-1222556 ROS, RNS production in phagocytes
R-HSA-167590 Nef Mediated CD4 Down-regulation
R-HSA-182218 Nef Mediated CD8 Down-regulation
R-HSA-77387 Insulin receptor recycling
R-HSA-917977 Transferrin endocytosis and recycling
R-HSA-983712 Ion channel transport

Miscellaneous databases

ChiTaRSiATP6V1H human
GeneWikiiATP6V1H
GenomeRNAii51606
PROiPR:Q9UI12
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000047249 Expressed in 229 organ(s), highest expression level in corpus callosum
CleanExiHS_ATP6V1H
ExpressionAtlasiQ9UI12 baseline and differential
GenevisibleiQ9UI12 HS

Family and domain databases

Gene3Di1.25.10.10, 1 hit
1.25.40.150, 1 hit
InterProiView protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR004908 ATPase_V1-cplx_hsu
IPR011987 ATPase_V1-cplx_hsu_C
IPR038497 ATPase_V1-cplx_hsu_C_sf
PANTHERiPTHR10698 PTHR10698, 1 hit
PfamiView protein in Pfam
PF11698 V-ATPase_H_C, 1 hit
PF03224 V-ATPase_H_N, 1 hit
PIRSFiPIRSF032184 ATPase_V1_H, 1 hit
SUPFAMiSSF48371 SSF48371, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiVATH_HUMAN
AccessioniPrimary (citable) accession number: Q9UI12
Secondary accession number(s): B3KMR0
, Q6PK44, Q9H3E3, Q9Y300
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 24, 2001
Last sequence update: May 1, 2000
Last modified: November 7, 2018
This is version 177 of the entry and version 1 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. SIMILARITY comments
    Index of protein domains and families
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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