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Entry version 179 (07 Oct 2020)
Sequence version 2 (10 May 2005)
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Protein

Renin receptor

Gene

ATP6AP2

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Multifunctional protein which functions as a renin, prorenin cellular receptor and is involved in the assembly of the lysosomal proton-transporting V-type ATPase (v-ATPase) and the acidification of the endo-lysosomal system (PubMed:12045255, PubMed:29127204, PubMed:30374053, PubMed:32276428). May mediate renin-dependent cellular responses by activating ERK1 and ERK2 (PubMed:12045255). By increasing the catalytic efficiency of renin in AGT/angiotensinogen conversion to angiotensin I, may also play a role in the renin-angiotensin system (RAS) (PubMed:12045255). Involved in many neuronal processes including synapse morphology and synaptic transmission (By similarity).By similarity4 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionReceptor

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:MONOMER66-34369

Pathway Commons web resource for biological pathway data

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PathwayCommonsi
O75787

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-2022377, Metabolism of Angiotensinogen to Angiotensins
R-HSA-6798695, Neutrophil degranulation

SIGNOR Signaling Network Open Resource

More...
SIGNORi
O75787

Protein family/group databases

Transport Classification Database

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TCDBi
8.A.80.1.1, the (pro)renin receptor (prr) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Renin receptorCurated
Alternative name(s):
ATPase H(+)-transporting lysosomal accessory protein 2
ATPase H(+)-transporting lysosomal-interacting protein 2
ER-localized type I transmembrane adapter
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
Cleaved into the following 2 chains:
Renin receptor N-terminal fragment1 Publication
Renin receptor C-terminal fragment1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ATP6AP2Imported
Synonyms:ATP6IP2, CAPER, ELDF10
ORF Names:HT028, MSTP009, PSEC0072
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000182220.13

Human Gene Nomenclature Database

More...
HGNCi
HGNC:18305, ATP6AP2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
300556, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O75787

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini17 – 302ExtracellularSequence analysisAdd BLAST286
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei303 – 323HelicalSequence analysisAdd BLAST21
Topological domaini324 – 350CytoplasmicSequence analysisAdd BLAST27

Keywords - Cellular componenti

Cell junction, Cell membrane, Cell projection, Cytoplasmic vesicle, Endoplasmic reticulum, Lysosome, Membrane, Postsynaptic cell membrane, Synapse

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
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.
Related information in OMIM
Defects in ATP6AP2 may be involved in a glycosylation disorder with autophagic defects characterized by serum protein hypoglycosylation, immunodeficiency, liver disease, psychomotor impairment, and cutis laxa.1 Publication

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi346K → Q: Increases cleavage and stability enhancing localization to the Golgi; when associated with Q-348. 1 Publication1
Mutagenesisi348R → Q: Increases cleavage and stability and enhancing localization to the Golgi; when associated with Q-346. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy, Mental retardation, Neurodegeneration, Parkinsonism

Organism-specific databases

DisGeNET

More...
DisGeNETi
10159

MalaCards human disease database

More...
MalaCardsi
ATP6AP2
MIMi300423, phenotype
300911, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000182220

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
93952, X-linked intellectual disability, Hedera type
363654, X-linked parkinsonism-spasticity syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA25148

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
O75787, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ATP6AP2

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 16Sequence analysisAdd BLAST16
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000002220317 – 350Renin receptorAdd BLAST334
ChainiPRO_000044786417 – 275Renin receptor N-terminal fragmentCuratedAdd BLAST259
ChainiPRO_0000447865278 – 350Renin receptor C-terminal fragmentCuratedAdd BLAST73

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated.1 Publication
Proteolytically cleaved by a furin-like convertase in the trans-Golgi network to generate N- and C-terminal fragments.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei275 – 276Cleavage; by furin-like protease1 Publication2
Sitei277 – 278Cleavage; by furin-like protease1 Publication2

Keywords - PTMi

Cleavage on pair of basic residues, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
O75787

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O75787

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
O75787

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O75787

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
O75787

PeptideAtlas

More...
PeptideAtlasi
O75787

PRoteomics IDEntifications database

More...
PRIDEi
O75787

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
50195 [O75787-1]
7033

Consortium for Top Down Proteomics

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TopDownProteomicsi
O75787-1 [O75787-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O75787

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
O75787

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000182220, Expressed in substantia nigra and 253 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O75787, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O75787, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000182220, Tissue enhanced (parathyroid)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with renin (PubMed:12045255).

Interacts with VMA21 (via N-terminus); VMA21 is a v-ATPase accessory component (PubMed:29127204).

Interacts with ATP6AP1 (via N-terminus) (PubMed:29127204).

Interacts with ATP6V0D1; ATP6V0D1 is a v-ATPase complex subunit and the interaction promotes v-ATPase complex assembly (PubMed:30374053).

Interacts with TMEM9; TMEM9 is a v-ATPase assembly regulator and the interaction induces the interaction with ATP6V0D1 (PubMed:30374053).

3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
115461, 139 interactors

Protein interaction database and analysis system

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IntActi
O75787, 122 interactors

Molecular INTeraction database

More...
MINTi
O75787

STRING: functional protein association networks

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STRINGi
9606.ENSP00000367697

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
O75787, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

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

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
O75787

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi346 – 350Mediates retrograde transport to the ER1 Publication5

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG4737, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00390000008856

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_065819_0_0_1

KEGG Orthology (KO)

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KOi
K19514

Identification of Orthologs from Complete Genome Data

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OMAi
WPIPGDR

Database of Orthologous Groups

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OrthoDBi
1179410at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O75787

TreeFam database of animal gene trees

More...
TreeFami
TF106137

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR012493, Renin_rcpt

The PANTHER Classification System

More...
PANTHERi
PTHR13351, PTHR13351, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF07850, Renin_r, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 21 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O75787-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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.

Show »
Length:318
Mass (Da):35,612
Checksum:iE924E3EE0F2098D7
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 21 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B7Z1I9B7Z1I9_HUMAN
ATPase H(+)-transporting lysosomal ...
ATP6AP2
272Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1C7CYW4A0A1C7CYW4_HUMAN
ATPase H(+)-transporting lysosomal ...
ATP6AP2
349Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GUT7A0A1B0GUT7_HUMAN
ATPase H(+)-transporting lysosomal ...
ATP6AP2
331Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GVB9A0A1B0GVB9_HUMAN
ATPase H(+)-transporting lysosomal ...
ATP6AP2
317Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GVW0A0A1B0GVW0_HUMAN
ATPase H(+)-transporting lysosomal ...
ATP6AP2
345Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C3E1H7C3E1_HUMAN
ATPase H(+)-transporting lysosomal ...
ATP6AP2
262Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GV24A0A1B0GV24_HUMAN
ATPase H(+)-transporting lysosomal ...
ATP6AP2
143Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GV60A0A1B0GV60_HUMAN
ATPase H(+)-transporting lysosomal ...
ATP6AP2
209Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GW13A0A1B0GW13_HUMAN
ATPase H(+)-transporting lysosomal ...
ATP6AP2
186Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GWJ8A0A1B0GWJ8_HUMAN
ATPase H(+)-transporting lysosomal ...
ATP6AP2
258Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_08205271R → H Probable disease-associated variant found in a patient with serum protein hypoglycosylation, immunodeficiency, liver disease, psychomotor impairment and cutis laxa; increases degradation rate via the ER-associated degradation pathway and results in loss of interaction with ATP6AP1. 1 PublicationCorresponds to variant dbSNP:rs1057523485EnsemblClinVar.1
Natural variantiVAR_05131390P → A. Corresponds to variant dbSNP:rs9014EnsemblClinVar.1
Natural variantiVAR_08205398L → S Probable disease-associated variant found in a patient with serum protein hypoglycosylation, immunodeficiency, liver disease, psychomotor impairment and cutis laxa; impairs export from the ER and cleavage, increases N-glycosylation post-translational modification which targets the misfolded protein to degradation via the ER-associated degradation pathway, results in loss of interaction with ATP6AP1. 1 Publication1
Natural variantiVAR_051314290A → P. Corresponds to variant dbSNP:rs35798522EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_056910101 – 132Missing in isoform 2. 1 PublicationAdd BLAST32

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS14252.1 [O75787-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
T08667

NCBI Reference Sequences

More...
RefSeqi
NP_005756.2, NM_005765.2 [O75787-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000636409; ENSP00000489819; ENSG00000182220 [O75787-2]
ENST00000636580; ENSP00000490083; ENSG00000182220 [O75787-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
10159

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:10159

UCSC genome browser

More...
UCSCi
uc004det.4, human [O75787-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3LBSX-ray2.15A/B333-350[»]
3LC8X-ray2.00A/B333-350[»]
SMRiO75787
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi115461, 139 interactors
IntActiO75787, 122 interactors
MINTiO75787
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
jPOSTiO75787
MassIVEiO75787
MaxQBiO75787
PaxDbiO75787
PeptideAtlasiO75787
PRIDEiO75787
ProteomicsDBi50195 [O75787-1]
7033
TopDownProteomicsiO75787-1 [O75787-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
556, 341 antibodies

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
10159
DisGeNETi10159
EuPathDBiHostDB:ENSG00000182220.13

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ATP6AP2
HGNCiHGNC:18305, ATP6AP2
HPAiENSG00000182220, Tissue enhanced (parathyroid)
MalaCardsiATP6AP2
MIMi300423, phenotype
300556, gene
300911, phenotype
neXtProtiNX_O75787
OpenTargetsiENSG00000182220
Orphaneti93952, X-linked intellectual disability, Hedera type
363654, X-linked parkinsonism-spasticity syndrome
PharmGKBiPA25148

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4737, Eukaryota
GeneTreeiENSGT00390000008856
HOGENOMiCLU_065819_0_0_1
KOiK19514
OMAiWPIPGDR
OrthoDBi1179410at2759
PhylomeDBiO75787
TreeFamiTF106137

Enzyme and pathway databases

BioCyciMetaCyc:MONOMER66-34369
PathwayCommonsiO75787
ReactomeiR-HSA-2022377, Metabolism of Angiotensinogen to Angiotensins
R-HSA-6798695, Neutrophil degranulation
SIGNORiO75787

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
10159, 262 hits in 518 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
ATP6AP2, human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
ATP6AP2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
10159
PharosiO75787, Tbio

Protein Ontology

More...
PROi
PR:O75787
RNActiO75787, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000182220, Expressed in substantia nigra and 253 other tissues
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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiRENR_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O75787
Secondary accession number(s): B7Z9I3
, Q5QTQ7, Q6T7F5, Q8NBP3, Q8NG15, Q96FV6, Q96LB5, Q9H2P8, Q9UG89
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 10, 2005
Last modified: October 7, 2020
This is version 179 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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