Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Renin receptor

Gene

ATP6AP2

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

Functioni

Functions as a renin and prorenin cellular receptor. May mediate renin-dependent cellular responses by activating ERK1 and ERK2. By increasing the catalytic efficiency of renin in AGT/angiotensinogen conversion to angiotensin I, it may also play a role in the renin-angiotensin system (RAS).1 Publication

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionReceptor

Enzyme and pathway databases

BioCyciMetaCyc:MONOMER66-34369
ReactomeiR-HSA-2022377 Metabolism of Angiotensinogen to Angiotensins
R-HSA-6798695 Neutrophil degranulation
SIGNORiO75787

Protein family/group databases

TCDBi8.A.80.1.1 the (pro)renin receptor (prr) family

Names & Taxonomyi

Protein namesi
Recommended name:
Renin receptor
Alternative name(s):
ATPase H(+)-transporting lysosomal accessory protein 2
ATPase H(+)-transporting lysosomal-interacting protein 2
ER-localized type I transmembrane adaptor
Embryonic liver differentiation factor 10
N14F
Renin/prorenin receptor
Vacuolar ATP synthase membrane sector-associated protein M8-9
Short name:
ATP6M8-9
Short name:
V-ATPase M8.9 subunit
Gene namesi
Name:ATP6AP2
Synonyms:ATP6IP2, CAPER, ELDF10
ORF Names:HT028, MSTP009, PSEC0072
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000182220.13
HGNCiHGNC:18305 ATP6AP2
MIMi300556 gene
neXtProtiNX_O75787

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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini17 – 302ExtracellularSequence analysisAdd BLAST286
Transmembranei303 – 323HelicalSequence analysisAdd BLAST21
Topological domaini324 – 350CytoplasmicSequence analysisAdd BLAST27

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Mental retardation, X-linked, with epilepsy (MRXE)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXE patients manifest mild to moderate mental retardation associated with epilepsy, delays in motor milestones and speech acquisition in infancy.
See also OMIM:300423
Parkinsonism with spasticity, X-linked (XPDS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by parkinsonian features, such as cogwheel rigidity, resting tremor and bradykinesia, and variably penetrant spasticity.
See also OMIM:300911

Keywords - Diseasei

Epilepsy, Mental retardation, Neurodegeneration, Parkinsonism

Organism-specific databases

DisGeNETi10159
MalaCardsiATP6AP2
MIMi300423 phenotype
300911 phenotype
OpenTargetsiENSG00000182220
Orphaneti93952 X-linked intellectual disability, Hedera type
363654 X-linked parkinsonism-spasticity syndrome
PharmGKBiPA25148

Polymorphism and mutation databases

BioMutaiATP6AP2

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 16Sequence analysisAdd BLAST16
ChainiPRO_000002220317 – 350Renin receptorAdd BLAST334

Post-translational modificationi

Phosphorylated.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO75787
MaxQBiO75787
PaxDbiO75787
PeptideAtlasiO75787
PRIDEiO75787
ProteomicsDBi50195
TopDownProteomicsiO75787-1 [O75787-1]

PTM databases

iPTMnetiO75787
PhosphoSitePlusiO75787

Expressioni

Tissue specificityi

Expressed in brain, heart, placenta, liver, kidney and pancreas. Barely detectable in lung and skeletal muscles. In the kidney cortex it is restricted to the mesangium of glomeruli. In the coronary and kidney artery it is expressed in the subendothelium, associated to smooth muscles where it colocalizes with REN. Expressed in vascular structures and by syncytiotrophoblast cells in the mature fetal placenta.2 Publications

Gene expression databases

BgeeiENSG00000182220 Expressed in 242 organ(s), highest expression level in substantia nigra
ExpressionAtlasiO75787 baseline and differential
GenevisibleiO75787 HS

Organism-specific databases

HPAiHPA003156

Interactioni

Subunit structurei

Interacts with renin and the vacuolar proton-ATPase.1 Publication

GO - Molecular functioni

Protein-protein interaction databases

BioGridi115461, 112 interactors
IntActiO75787, 97 interactors
STRINGi9606.ENSP00000367697

Structurei

Secondary structure

1350
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliO75787
SMRiO75787
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4737 Eukaryota
ENOG4111F0U LUCA
GeneTreeiENSGT00390000008856
HOVERGENiHBG056579
KOiK19514
OMAiFRDGNWP
OrthoDBiEOG091G0HQ3
PhylomeDBiO75787
TreeFamiTF106137

Family and domain databases

InterProiView protein in InterPro
IPR012493 Renin_rcpt
PANTHERiPTHR13351 PTHR13351, 1 hit
PfamiView protein in Pfam
PF07850 Renin_r, 1 hit

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: O75787-1) [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
MAVFVVLLAL VAGVLGNEFS ILKSPGSVVF RNGNWPIPGE RIPDVAALSM
60 70 80 90 100
GFSVKEDLSW PGLAVGNLFH RPRATVMVMV KGVNKLALPP GSVISYPLEN
110 120 130 140 150
AVPFSLDSVA NSIHSLFSEE TPVVLQLAPS EERVYMVGKA NSVFEDLSVT
160 170 180 190 200
LRQLRNRLFQ ENSVLSSLPL NSLSRNNEVD LLFLSELQVL HDISSLLSRH
210 220 230 240 250
KHLAKDHSPD LYSLELAGLD EIGKRYGEDS EQFRDASKIL VDALQKFADD
260 270 280 290 300
MYSLYGGNAV VELVTVKSFD TSLIRKTRTI LEAKQAKNPA SPYNLAYKYN
310 320 330 340 350
FEYSVVFNMV LWIMIALALA VIITSYNIWN MDPGYDSIIY RMTNQKIRMD
Length:350
Mass (Da):39,008
Last modified:May 10, 2005 - v2
Checksum:i84084A4ACE9C5DE8
GO
Isoform 2 (identifier: O75787-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     101-132: Missing.

Note: No experimental confirmation available.
Show »
Length:318
Mass (Da):35,612
Checksum:iE924E3EE0F2098D7
GO

Sequence cautioni

The sequence AAH10395 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAQ13511 differs from that shown. Reason: Frameshift at position 155. Translation N-terminally extended.Curated
The sequence CAA76984 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti138G → W in AAK83467 (Ref. 2) Curated1
Sequence conflicti153 – 154QL → HV in AAK83467 (Ref. 2) Curated2
Sequence conflicti258N → K in BAC11582 (PubMed:16303743).Curated1
Sequence conflicti285Q → R (PubMed:10931946).Curated1
Sequence conflicti285Q → R (PubMed:17974005).Curated1
Sequence conflicti287Missing in AAH10395 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05131390P → A. Corresponds to variant dbSNP:rs9014EnsemblClinVar.1
Natural variantiVAR_051314290A → P. Corresponds to variant dbSNP:rs35798522EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_056910101 – 132Missing in isoform 2. 1 PublicationAdd BLAST32

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF291814 mRNA Translation: AAM47531.1
AY038990 mRNA Translation: AAK83467.1
AF109363 mRNA Translation: AAQ13511.1 Frameshift.
AF248966 mRNA Translation: AAG44564.1
AK315948 mRNA Translation: BAH14319.1
AK075382 mRNA Translation: BAC11582.1
AC092473 Genomic DNA No translation available.
BC010395 mRNA Translation: AAH10395.1 Different initiation.
BC084541 mRNA Translation: AAH84541.1
AY429341 mRNA Translation: AAR06910.1
AL049929 mRNA Translation: CAB43210.1
Y17975 mRNA Translation: CAA76984.1 Different initiation.
CCDSiCCDS14252.1 [O75787-1]
PIRiT08667
RefSeqiNP_005756.2, NM_005765.2 [O75787-1]
UniGeneiHs.495960

Genome annotation databases

EnsembliENST00000636409; ENSP00000489819; ENSG00000182220 [O75787-2]
ENST00000636580; ENSP00000490083; ENSG00000182220 [O75787-1]
GeneIDi10159
KEGGihsa:10159
UCSCiuc004det.4 human [O75787-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF291814 mRNA Translation: AAM47531.1
AY038990 mRNA Translation: AAK83467.1
AF109363 mRNA Translation: AAQ13511.1 Frameshift.
AF248966 mRNA Translation: AAG44564.1
AK315948 mRNA Translation: BAH14319.1
AK075382 mRNA Translation: BAC11582.1
AC092473 Genomic DNA No translation available.
BC010395 mRNA Translation: AAH10395.1 Different initiation.
BC084541 mRNA Translation: AAH84541.1
AY429341 mRNA Translation: AAR06910.1
AL049929 mRNA Translation: CAB43210.1
Y17975 mRNA Translation: CAA76984.1 Different initiation.
CCDSiCCDS14252.1 [O75787-1]
PIRiT08667
RefSeqiNP_005756.2, NM_005765.2 [O75787-1]
UniGeneiHs.495960

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3LBSX-ray2.15A/B333-350[»]
3LC8X-ray2.00A/B333-350[»]
ProteinModelPortaliO75787
SMRiO75787
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115461, 112 interactors
IntActiO75787, 97 interactors
STRINGi9606.ENSP00000367697

Protein family/group databases

TCDBi8.A.80.1.1 the (pro)renin receptor (prr) family

PTM databases

iPTMnetiO75787
PhosphoSitePlusiO75787

Polymorphism and mutation databases

BioMutaiATP6AP2

Proteomic databases

EPDiO75787
MaxQBiO75787
PaxDbiO75787
PeptideAtlasiO75787
PRIDEiO75787
ProteomicsDBi50195
TopDownProteomicsiO75787-1 [O75787-1]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000636409; ENSP00000489819; ENSG00000182220 [O75787-2]
ENST00000636580; ENSP00000490083; ENSG00000182220 [O75787-1]
GeneIDi10159
KEGGihsa:10159
UCSCiuc004det.4 human [O75787-1]

Organism-specific databases

CTDi10159
DisGeNETi10159
EuPathDBiHostDB:ENSG00000182220.13
GeneCardsiATP6AP2
HGNCiHGNC:18305 ATP6AP2
HPAiHPA003156
MalaCardsiATP6AP2
MIMi300423 phenotype
300556 gene
300911 phenotype
neXtProtiNX_O75787
OpenTargetsiENSG00000182220
Orphaneti93952 X-linked intellectual disability, Hedera type
363654 X-linked parkinsonism-spasticity syndrome
PharmGKBiPA25148
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4737 Eukaryota
ENOG4111F0U LUCA
GeneTreeiENSGT00390000008856
HOVERGENiHBG056579
KOiK19514
OMAiFRDGNWP
OrthoDBiEOG091G0HQ3
PhylomeDBiO75787
TreeFamiTF106137

Enzyme and pathway databases

BioCyciMetaCyc:MONOMER66-34369
ReactomeiR-HSA-2022377 Metabolism of Angiotensinogen to Angiotensins
R-HSA-6798695 Neutrophil degranulation
SIGNORiO75787

Miscellaneous databases

ChiTaRSiATP6AP2 human
GeneWikiiATP6AP2
GenomeRNAii10159
PROiPR:O75787
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000182220 Expressed in 242 organ(s), highest expression level in substantia nigra
ExpressionAtlasiO75787 baseline and differential
GenevisibleiO75787 HS

Family and domain databases

InterProiView protein in InterPro
IPR012493 Renin_rcpt
PANTHERiPTHR13351 PTHR13351, 1 hit
PfamiView protein in Pfam
PF07850 Renin_r, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiRENR_HUMAN
AccessioniPrimary (citable) accession number: O75787
Secondary accession number(s): B7Z9I3
, Q5QTQ7, Q6T7F5, Q8NBP3, Q8NG15, Q96FV6, Q96LB5, Q9H2P8, Q9UG89
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 10, 2005
Last modified: September 12, 2018
This is version 165 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again