Reviewed,
UniProtKB/Swiss-Prot O75787 (RENR_HUMAN)
Last modified
December 15, 2009.
Version 84.
History...
Clusters with 100%,
90%,
50% identity |
Documents (4) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Renin receptor Alternative name(s): Renin/prorenin receptor ATPase H(+)-transporting lysosomal accessory protein 2 ATPase H(+)-transporting lysosomal-interacting protein 2 Vacuolar ATP synthase membrane sector-associated protein M8-9 Short name=V-ATPase M8.9 subunit ATP6M8-9 N14F ER-localized type I transmembrane adaptor Embryonic liver differentiation factor 10 | ||||||
| Gene names |
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| Organism | Homo sapiens (Human) [Complete proteome] | ||||||
| Taxonomic identifier | 9606 [NCBI] | ||||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 350 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | 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). Ref.1 |
| Subunit structure | Interacts with renin and the vacuolar proton-ATPase. Ref.1 |
| Subcellular location | Membrane; Single-pass type I membrane protein Potential. |
| Tissue specificity | 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 syncitiotrophoblast cells in the mature fetal placenta. Ref.1 Ref.10 |
| Post-translational modification | Phosphorylated. Ref.1 |
| Involvement in disease | Defects in ATP6AP2 are a cause of mental retardation X-linked with epilepsy (MRXE) [MIM:300423]. MRXE is a syndromic mental retardation. Patients manifest mild to moderate mental retardation associated with epilepsy, delays in motor milestones and speech acquisition in infancy. Ref.10 |
| Sequence caution | The sequence AAQ13511.1 differs from that shown. Reason: Frameshift at position 155. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Membrane |
| Coding sequence diversity | Polymorphism |
| Disease | Epilepsy Mental retardation |
| Domain | Signal Transmembrane |
| Molecular function | Receptor |
| PTM | Phosphoprotein |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Biological process | angiotensin maturation Ref.1 Ref.10 Inferred from direct assay. Source: HGNC positive regulation of transforming growth factor-beta1 productionInferred from direct assay. Source: HGNC regulation of MAPKKK cascade Ref.1 Ref.10Inferred from direct assay. Source: HGNC |
| Cellular component | external side of plasma membrane Ref.1 Ref.10 Inferred from direct assay. Source: HGNC integral to membraneInferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular function | protein binding Ref.1 Inferred from physical interaction. Source: HGNC receptor activityInferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 16 | 16 | Potential | ||||||
| Chain | 17 – 350 | 334 | Renin receptor | PRO_0000022203 | |||||
Regions | |||||||||
| Topological domain | 17 – 302 | 286 | Extracellular Potential | ||||||
| Transmembrane | 303 – 323 | 21 | Potential | ||||||
| Topological domain | 324 – 350 | 27 | Cytoplasmic Potential | ||||||
Natural variations | |||||||||
| Natural variant | 90 | 1 | P → A: dbSNP rs9014. | VAR_051313 | |||||
| Natural variant | 290 | 1 | A → P: dbSNP rs35798522. | VAR_051314 | |||||
Experimental info | |||||||||
| Sequence conflict | 138 | 1 | G → W in AAK83467. Ref.2 | ||||||
| Sequence conflict | 153 – 154 | 2 | QL → HV in AAK83467. Ref.2 | ||||||
| Sequence conflict | 258 | 1 | N → K in BAC11582. Ref.5 | ||||||
| Sequence conflict | 285 | 1 | Q → R Ref.4 | ||||||
| Sequence conflict | 285 | 1 | Q → R Ref.8 | ||||||
| Sequence conflict | 287 | 1 | Missing in AAH10395. Ref.6 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [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: 12045255] [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] | Hui R.T., Liu Y.Q., Liu B., Zhao B., Meng X.M., Sheng H., Xu Y.Y., Wang X.Y., Ye J., Song L., Gao Y., Wei Y.J., Zhang C.L., Zhang J., Chai M.Q., Chen J.Z., Sun Y.H., Zhou X.L. Zhao M.S.Submitted (NOV-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Aorta. |
| [4] | "Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning." Hu R.-M., Han Z.-G., Song H.-D., Peng Y.-D., Huang Q.-H., Ren S.-X., Gu Y.-J., Huang C.-H., Li Y.-B., Jiang C.-L., Fu G., Zhang Q.-H., Gu B.-W., Dai M., Mao Y.-F., Gao G.-F., Rong R., Ye M. Chen J.-L.Proc. Natl. Acad. Sci. U.S.A. 97:9543-9548(2000) [PubMed: 10931946] [Abstract] 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. Isogai T.DNA Res. 12:117-126(2005) [PubMed: 16303743] [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: 15489334] [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] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] 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: 9556572] [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: 15746149] [Abstract] Cited for: INVOLVEMENT IN MRXE, TISSUE SPECIFICITY, ALTERNATIVE SPLICING. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| 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. | |
| IPI | IPI00168884. |
| PIR | T08667. |
| RefSeq | NP_005756.2. |
| UniGene | Hs.495960 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | O75787. |
Proteomic databases | |
| PRIDE | O75787. |
Genome annotation databases | |
| Ensembl | ENST00000378438; ENSP00000367697; ENSG00000182220; Homo sapiens. [Genome view] |
| GeneID | 10159. |
| KEGG | hsa:10159. |
| UCSC | uc004det.1. human. |
Organism-specific databases | |
| CTD | 10159. |
| GeneCards | GC0XP040325. |
| H-InvDB | HIX0016733. |
| HGNC | HGNC:18305. ATP6AP2. |
| HPA | HPA003156. |
| MIM | 300423. phenotype. 300556. gene. |
| Orphanet | 2076. Intellectual deficit - epilepsy, X-linked. |
| PharmGKB | PA38523. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | O75787. |
| InParanoid | O75787. |
| OMA | FRDGNWP. |
| OrthoDB | EOG9CNT98. |
Gene expression databases | |
| ArrayExpress | O75787. |
| Bgee | O75787. |
| Genevestigator | O75787. |
| GermOnline | ENSG00000182220. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR012493. Renin_rcpt. [Graphical view] |
| PANTHER | PTHR13351. Renin_rcpt. 1 hit. |
| Pfam | PF07850. Renin_r. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 38460. |
| SOURCE | Search... |
Entry information
| Entry name | RENR_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O75787 Secondary accession number(s): Q5QTQ7 Q9UG89 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Human chromosome X Human chromosome X: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |

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