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O75787

- RENR_HUMAN

UniProt

O75787 - RENR_HUMAN

Protein

Renin receptor

Gene

ATP6AP2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 130 (01 Oct 2014)
      Sequence version 2 (10 May 2005)
      Previous versions | rss
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    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

    1. aspartic-type endopeptidase activity Source: Reactome
    2. protein binding Source: HGNC
    3. receptor activity Source: InterPro

    GO - Biological processi

    1. angiotensin maturation Source: HGNC
    2. cell death Source: UniProtKB-KW
    3. cellular protein metabolic process Source: Reactome
    4. eye pigmentation Source: UniProt
    5. head morphogenesis Source: UniProt
    6. positive regulation of transforming growth factor beta1 production Source: HGNC
    7. positive regulation of Wnt signaling pathway Source: UniProt
    8. proteolysis Source: GOC
    9. regulation of MAPK cascade Source: HGNC
    10. rostrocaudal neural tube patterning Source: UniProt

    Keywords - Molecular functioni

    Receptor

    Enzyme and pathway databases

    BioCyciMetaCyc:MONOMER66-34369.
    ReactomeiREACT_147707. Metabolism of Angiotensinogen to Angiotensins.

    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
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:18305. ATP6AP2.

    Subcellular locationi

    GO - Cellular componenti

    1. cell body Source: Ensembl
    2. external side of plasma membrane Source: HGNC
    3. extracellular vesicular exosome Source: UniProt
    4. integral component of membrane Source: UniProtKB-KW
    5. neuron projection Source: Ensembl
    6. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Mental retardation, X-linked, with epilepsy (MRXE) [MIM:300423]: A 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Parkinsonism with spasticity, X-linked (XPDS) [MIM:300911]: A syndrome characterized by parkinsonian features, such as cogwheel rigidity, resting tremor and bradykinesia, and variably penetrant spasticity.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Epilepsy, Mental retardation, Neurodegeneration, Parkinsonism

    Organism-specific databases

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

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 1616Sequence AnalysisAdd
    BLAST
    Chaini17 – 350334Renin receptorPRO_0000022203Add
    BLAST

    Post-translational modificationi

    Phosphorylated.1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiO75787.
    PaxDbiO75787.
    PRIDEiO75787.

    PTM databases

    PhosphoSiteiO75787.

    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

    ArrayExpressiO75787.
    BgeeiO75787.
    GenevestigatoriO75787.

    Organism-specific databases

    HPAiHPA003156.

    Interactioni

    Subunit structurei

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

    Protein-protein interaction databases

    BioGridi115461. 8 interactions.
    IntActiO75787. 3 interactions.

    Structurei

    Secondary structure

    1
    350
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Turni334 – 3374
    Helixi338 – 3403

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    3LBSX-ray2.15A/B333-350[»]
    3LC8X-ray2.00A/B333-350[»]
    ProteinModelPortaliO75787.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini17 – 302286ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini324 – 35027CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei303 – 32321HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG296465.
    HOVERGENiHBG056579.
    InParanoidiO75787.
    OMAiFRDGNWP.
    OrthoDBiEOG7R56VH.
    PhylomeDBiO75787.
    TreeFamiTF106137.

    Family and domain databases

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

    Sequencei

    Sequence statusi: Complete.

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

    O75787-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAVFVVLLAL VAGVLGNEFS ILKSPGSVVF RNGNWPIPGE RIPDVAALSM    50
    GFSVKEDLSW PGLAVGNLFH RPRATVMVMV KGVNKLALPP GSVISYPLEN 100
    AVPFSLDSVA NSIHSLFSEE TPVVLQLAPS EERVYMVGKA NSVFEDLSVT 150
    LRQLRNRLFQ ENSVLSSLPL NSLSRNNEVD LLFLSELQVL HDISSLLSRH 200
    KHLAKDHSPD LYSLELAGLD EIGKRYGEDS EQFRDASKIL VDALQKFADD 250
    MYSLYGGNAV VELVTVKSFD TSLIRKTRTI LEAKQAKNPA SPYNLAYKYN 300
    FEYSVVFNMV LWIMIALALA VIITSYNIWN MDPGYDSIIY RMTNQKIRMD 350
    Length:350
    Mass (Da):39,008
    Last modified:May 10, 2005 - v2
    Checksum:i84084A4ACE9C5DE8
    GO

    Sequence cautioni

    The sequence AAQ13511.1 differs from that shown. Reason: Frameshift at position 155. Translation N-terminally extended.
    The sequence AAH10395.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence CAA76984.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti138 – 1381G → W in AAK83467. 1 PublicationCurated
    Sequence conflicti153 – 1542QL → HV in AAK83467. 1 PublicationCurated
    Sequence conflicti258 – 2581N → K in BAC11582. (PubMed:16303743)Curated
    Sequence conflicti285 – 2851Q → R(PubMed:10931946)Curated
    Sequence conflicti285 – 2851Q → R(PubMed:17974005)Curated
    Sequence conflicti287 – 2871Missing in AAH10395. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti90 – 901P → A.
    Corresponds to variant rs9014 [ dbSNP | Ensembl ].
    VAR_051313
    Natural varianti290 – 2901A → P.
    Corresponds to variant rs35798522 [ dbSNP | Ensembl ].
    VAR_051314

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF291814 mRNA. Translation: AAM47531.1.
    AY038990 mRNA. Translation: AAK83467.1.
    AF109363 mRNA. Translation: AAQ13511.1. Frameshift.
    AF248966 mRNA. Translation: AAG44564.1.
    AK075382 mRNA. Translation: BAC11582.1.
    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.
    PIRiT08667.
    RefSeqiNP_005756.2. NM_005765.2.
    UniGeneiHs.495960.

    Genome annotation databases

    EnsembliENST00000378438; ENSP00000367697; ENSG00000182220.
    GeneIDi10159.
    KEGGihsa:10159.
    UCSCiuc004det.3. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF291814 mRNA. Translation: AAM47531.1 .
    AY038990 mRNA. Translation: AAK83467.1 .
    AF109363 mRNA. Translation: AAQ13511.1 . Frameshift.
    AF248966 mRNA. Translation: AAG44564.1 .
    AK075382 mRNA. Translation: BAC11582.1 .
    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.
    CCDSi CCDS14252.1.
    PIRi T08667.
    RefSeqi NP_005756.2. NM_005765.2.
    UniGenei Hs.495960.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    3LBS X-ray 2.15 A/B 333-350 [» ]
    3LC8 X-ray 2.00 A/B 333-350 [» ]
    ProteinModelPortali O75787.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115461. 8 interactions.
    IntActi O75787. 3 interactions.

    PTM databases

    PhosphoSitei O75787.

    Proteomic databases

    MaxQBi O75787.
    PaxDbi O75787.
    PRIDEi O75787.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000378438 ; ENSP00000367697 ; ENSG00000182220 .
    GeneIDi 10159.
    KEGGi hsa:10159.
    UCSCi uc004det.3. human.

    Organism-specific databases

    CTDi 10159.
    GeneCardsi GC0XP040440.
    HGNCi HGNC:18305. ATP6AP2.
    HPAi HPA003156.
    MIMi 300423. phenotype.
    300556. gene.
    300911. phenotype.
    neXtProti NX_O75787.
    Orphaneti 93952. X-linked intellectual disability, Hedera type.
    363654. X-linked parkinsonism-spasticity syndrome.
    PharmGKBi PA25148.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG296465.
    HOVERGENi HBG056579.
    InParanoidi O75787.
    OMAi FRDGNWP.
    OrthoDBi EOG7R56VH.
    PhylomeDBi O75787.
    TreeFami TF106137.

    Enzyme and pathway databases

    BioCyci MetaCyc:MONOMER66-34369.
    Reactomei REACT_147707. Metabolism of Angiotensinogen to Angiotensins.

    Miscellaneous databases

    ChiTaRSi ATP6AP2. human.
    GeneWikii ATP6AP2.
    GenomeRNAii 10159.
    NextBioi 38460.
    PROi O75787.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O75787.
    Bgeei O75787.
    Genevestigatori O75787.

    Family and domain databases

    InterProi IPR012493. Renin_rcpt.
    [Graphical view ]
    PANTHERi PTHR13351. PTHR13351. 1 hit.
    Pfami PF07850. Renin_r. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Pivotal role of the renin/prorenin receptor in angiotensin II production and cellular responses to renin."
      Nguyen G., Delarue F., Burckle C., Bouzhir L., Giller T., Sraer J.-D.
      J. Clin. Invest. 109:1417-1427(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], INTERACTION WITH REN, PHOSPHORYLATION, TISSUE SPECIFICITY, FUNCTION.
      Tissue: Mesangial cell.
    2. "Cell cycle-dependent subcellular localization of the protein tyrosine phosphatase PTPCAAX1 and its implication in cell cycle regulation."
      Wang J., Kirby C., Herbst R.
      Submitted (JUN-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Cervix carcinoma.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Aorta.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Hypothalamus.
    5. "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."
      Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.
      , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T.
      DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Teratocarcinoma.
    6. "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].
      Tissue: Brain and Prostate.
    7. "The cloning of a novel gene related with erythroid differentiation."
      Zhang S., Yan H., Yang F.
      Submitted (OCT-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 13-350.
      Tissue: Liver.
    8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 21-350.
      Tissue: Brain.
    9. "Identification and characterization of a novel 9.2-kDa membrane sector-associated protein of vacuolar proton-ATPase from chromaffin granules."
      Ludwig J., Kerscher S., Brandt U., Pfeiffer K., Getlawi F., Apps D.K., Schaegger H.
      J. Biol. Chem. 273:10939-10947(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 188-350.
    10. "A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor."
      Ramser J., Abidi F.E., Burckle C.A., Lenski C., Toriello H., Wen G., Lubs H.A., Engert S., Stevenson R.E., Meindl A., Schwartz C.E., Nguyen G.
      Hum. Mol. Genet. 14:1019-1027(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN MRXE, TISSUE SPECIFICITY, ALTERNATIVE SPLICING.
    11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    12. Cited for: INVOLVEMENT IN XPDS.

    Entry informationi

    Entry nameiRENR_HUMAN
    AccessioniPrimary (citable) accession number: O75787
    Secondary accession number(s): 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: October 1, 2014
    This is version 130 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

    External Data

    Dasty 3