Reviewed, UniProtKB/Swiss-Prot O75787 (RENR_HUMAN)

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

Name:	ATP6AP2
Synonyms:	ATP6IP2, CAPER, ELDF10
ORF Names:	HT028, MSTP009, PSEC0072

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 production Inferred from direct assay. Source: HGNC regulation of MAPKKK cascade Ref.1 Ref.10 Inferred from direct assay. Source: HGNC
Cellular component	external side of plasma membrane Ref.1 Ref.10 Inferred from direct assay. Source: HGNC integral to membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	protein binding Ref.1 Inferred from physical interaction. Source: HGNC receptor activity Inferred 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

	Sequence		Length	Mass (Da)
	O75787-1 [UniParc]. Last modified May 10, 2005. Version 2. Checksum: 84084A4ACE9C5DE8	FASTA	350	39,008
	10 20 30 40 50 60 MAVFVVLLAL VAGVLGNEFS ILKSPGSVVF RNGNWPIPGE RIPDVAALSM GFSVKEDLSW 70 80 90 100 110 120 PGLAVGNLFH RPRATVMVMV KGVNKLALPP GSVISYPLEN AVPFSLDSVA NSIHSLFSEE 130 140 150 160 170 180 TPVVLQLAPS EERVYMVGKA NSVFEDLSVT LRQLRNRLFQ ENSVLSSLPL NSLSRNNEVD 190 200 210 220 230 240 LLFLSELQVL HDISSLLSRH KHLAKDHSPD LYSLELAGLD EIGKRYGEDS EQFRDASKIL 250 260 270 280 290 300 VDALQKFADD MYSLYGGNAV VELVTVKSFD TSLIRKTRTI LEAKQAKNPA SPYNLAYKYN 310 320 330 340 350 FEYSVVFNMV LWIMIALALA VIITSYNIWN MDPGYDSIIY RMTNQKIRMD

References

	« Hide 'large scale' referencesShow '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. , Jiang Y.X., Zhao X.W., Liu S., Cao H.Q., Zhao Y., Liu D.Q., Ding J.F., Liu L.S., Gao R.L., Wu Q.Y., Qiang B.Q., Yuan J.G., Liew C.C., 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. , Zhou J., Xu S.-H., Gu J., Shi J.-X., Jin W.-R., Zhang C.-K., Wu T.-M., Huang G.-Y., Chen Z., Chen M.-D., 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. , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., 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.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBLGenBankDDBJ	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 , Q6T7F5, Q8NBP3, Q8NG15, Q96FV6, Q96LB5, Q9H2P8, Q9UG89

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	May 10, 2005
Last modified:	December 15, 2009
This is version 84 of the entry and version 2 of the sequence. [Complete history]

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.