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Protein

Renin receptor

Gene

ATP6AP2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

  • angiotensin maturation Source: HGNC
  • eye pigmentation Source: UniProtKB
  • head morphogenesis Source: UniProtKB
  • positive regulation of transforming growth factor beta1 production Source: HGNC
  • positive regulation of Wnt signaling pathway Source: UniProtKB
  • regulation of MAPK cascade Source: HGNC
  • rostrocaudal neural tube patterning Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Receptor

Enzyme and pathway databases

BioCyciMetaCyc:MONOMER66-34369.
ZFISH: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

HGNCiHGNC:18305. ATP6AP2.

Subcellular locationi

Topology

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

GO - Cellular componenti

  • external side of plasma membrane Source: HGNC
  • extracellular exosome Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
  • plasma membrane Source: Reactome
Complete GO annotation...

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.
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.
ExpressionAtlasiO75787. baseline and differential.
GenevisibleiO75787. HS.

Organism-specific databases

HPAiHPA003156.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi115461. 109 interactors.
IntActiO75787. 86 interactors.
STRINGi9606.ENSP00000367697.

Structurei

Secondary structure

1350
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Turni334 – 337Combined sources4
Helixi338 – 340Combined sources3

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...

Family & Domainsi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4737. Eukaryota.
ENOG4111F0U. LUCA.
GeneTreeiENSGT00390000008856.
HOVERGENiHBG056579.
KOiK19514.
OMAiNLWNMDP.
OrthoDBiEOG091G0HQ3.
PhylomeDBiO75787.
TreeFamiTF106137.

Family and domain databases

InterProiIPR012493. Renin_rcpt.
[Graphical view]
PANTHERiPTHR13351. PTHR13351. 1 hit.
PfamiPF07850. Renin_r. 1 hit.
[Graphical view]

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 rs9014dbSNPEnsembl.1
Natural variantiVAR_051314290A → P.Corresponds to variant rs35798522dbSNPEnsembl.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

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. 109 interactors.
IntActiO75787. 86 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.
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.
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.
OMAiNLWNMDP.
OrthoDBiEOG091G0HQ3.
PhylomeDBiO75787.
TreeFamiTF106137.

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRSiATP6AP2. human.
GeneWikiiATP6AP2.
GenomeRNAii10159.
PROiO75787.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000182220.
ExpressionAtlasiO75787. baseline and differential.
GenevisibleiO75787. HS.

Family and domain databases

InterProiIPR012493. Renin_rcpt.
[Graphical view]
PANTHERiPTHR13351. PTHR13351. 1 hit.
PfamiPF07850. Renin_r. 1 hit.
[Graphical view]
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 historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 10, 2005
Last modified: November 30, 2016
This is version 152 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.