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Entry version 203 (31 Jul 2019)
Sequence version 4 (23 Jan 2007)
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Protein

Na(+)/H(+) exchange regulatory cofactor NHE-RF1

Gene

SLC9A3R1

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

Scaffold protein that connects plasma membrane proteins with members of the ezrin/moesin/radixin family and thereby helps to link them to the actin cytoskeleton and to regulate their surface expression. Necessary for recycling of internalized ADRB2. Was first known to play a role in the regulation of the activity and subcellular location of SLC9A3. Necessary for cAMP-mediated phosphorylation and inhibition of SLC9A3. May enhance Wnt signaling. May participate in HTR4 targeting to microvilli (By similarity). Involved in the regulation of phosphate reabsorption in the renal proximal tubules. Involved in sperm capacitation. May participate in the regulation of the chloride and bicarbonate homeostasis in spermatozoa.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

Biological processWnt signaling pathway

Enzyme and pathway databases

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
O14745

SIGNOR Signaling Network Open Resource

More...
SIGNORi
O14745

Protein family/group databases

Transport Classification Database

More...
TCDBi
8.A.24.1.1 the ezrin/radixin/moesin-binding phosphoprotein 50 (ebp50) 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_and_taxonomy_section">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:
Na(+)/H(+) exchange regulatory cofactor NHE-RF1
Short name:
NHERF-1
Alternative name(s):
Ezrin-radixin-moesin-binding phosphoprotein 50
Short name:
EBP50
Regulatory cofactor of Na(+)/H(+) exchanger
Sodium-hydrogen exchanger regulatory factor 1
Solute carrier family 9 isoform A3 regulatory factor 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:SLC9A3R1
Synonyms:NHERF, NHERF1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 17

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:11075 SLC9A3R1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
604990 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O14745

<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

Keywords - Cellular componenti

Cell membrane, Cell projection, Cytoplasm, Membrane

<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

Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by decreased renal phosphate absorption, renal phosphate wasting, hypophosphatemia, hyperphosphaturia, hypercalciuria, nephrolithiasis and osteoporosis.
Related information in OMIM
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_06766168E → A in NPHLOP2; impairs the interaction with SLC34A1; causes a reduction of SLC34A1 amount on cell membrane and affects SLC34A1-dependent phosphate uptake. 1 PublicationCorresponds to variant dbSNP:rs139622189EnsemblClinVar.1
Natural variantiVAR_034899110L → V in NPHLOP2; the mutant expressed in cultured renal cells increases the generation of cyclic AMP (cAMP) by parathyroid hormone (PTH) and inhibits phosphate transport. 1 PublicationCorresponds to variant dbSNP:rs35910969EnsemblClinVar.1
Natural variantiVAR_048021153R → Q in NPHLOP2; the mutant expressed in cultured renal cells increases the generation of cAMP by PTH and inhibits phosphate transport. 1 PublicationCorresponds to variant dbSNP:rs41282065EnsemblClinVar.1
Natural variantiVAR_048022225E → K in NPHLOP2; the mutant expressed in cultured renal cells increases the generation of cAMP by PTH and inhibits phosphate transport. 1 PublicationCorresponds to variant dbSNP:rs119486097EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'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>Mutagenesisi355F → R: Loss of MSX binding. 1 Publication1
Mutagenesisi358Missing : Reduces MSX binding. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
9368

MalaCards human disease database

More...
MalaCardsi
SLC9A3R1
MIMi612287 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000109062

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

More...
Orphaneti
244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA35931

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SLC9A3R1

<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 <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources2 Publications
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000967992 – 358Na(+)/H(+) exchange regulatory cofactor NHE-RF1Add BLAST357

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylserineCombined sources1 Publication1
Modified residuei2PhosphoserineCombined sources1
Modified residuei46PhosphoserineCombined sources1
Modified residuei162PhosphoserineCombined sources1
Modified residuei269PhosphoserineCombined sources1
Modified residuei280PhosphoserineCombined sources1
Modified residuei290PhosphoserineBy similarity1
Modified residuei291PhosphoserineBy similarity1
Modified residuei293PhosphothreonineBy similarity1
Modified residuei294PhosphoserineCombined sources1
Modified residuei299PhosphoserineBy similarity1
Modified residuei302PhosphoserineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">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 on serine residues.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

The CPTAC Assay portal

More...
CPTACi
CPTAC-588
CPTAC-589

Encyclopedia of Proteome Dynamics

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EPDi
O14745

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O14745

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O14745

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

More...
PaxDbi
O14745

PeptideAtlas

More...
PeptideAtlasi
O14745

PRoteomics IDEntifications database

More...
PRIDEi
O14745

ProteomicsDB human proteome resource

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ProteomicsDBi
48202 [O14745-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O14745

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

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PhosphoSitePlusi
O14745

<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

Detected in liver, kidney, pancreas, prostate, spleen, small intestine and placenta, in particular in the syncytiotrophoblast.2 Publications

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

By estrogen.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000109062 Expressed in 217 organ(s), highest expression level in esophagus mucosa

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O14745 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O14745 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB001962
HPA009672
HPA027247

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer, and heterodimer with SLC9A3R2. Binds the N-termini of EZR, RDX and MSN. Binds the C-termini of PDGFRA, PDGFRB, ADRB2, NOS2 and CFTR. Binds ARHGAP17, EPI64, RACK1, OPRK1, GNAQ, CTNNB1 and PLCB3. Binds PDZK1 (By similarity).

Interacts with CLCN3. Binds the C-terminus of PAG1. In resting T-cells, part of a PAG1-SLC9A3R1-MSN complex which is disrupted upon TCR activation.

Forms a complex with CFTR and SLC4A7.

Forms a complex with SLC4A7 and ATP6V1B1.

Interacts with TRPC4 (via the PDZ-binding domain). Directly interacts with HTR4 (By similarity).

Interacts (via the PDZ 1 domain) with PODXL (via the C-terminal PDZ-binding motif DTHL); interaction is not detected in glomerular epithelium cells.

Interacts (via the PDZ 1 domain) with PODXL (via the C-terminal PDZ-binding motif DTHL); the interaction take place early in the secretory pathway and is necessary for its apical membrane sorting (By similarity).

Interacts with SLC26A3 (By similarity).

Interacts with MCC.

Interacts with SLC34A1.

Interacts (via the PDZ domains) with SLC26A6 isoform 4 and isoform 5.

By similarity22 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
114769, 113 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
O14745

Database of interacting proteins

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DIPi
DIP-29092N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
O14745

Protein interaction database and analysis system

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IntActi
O14745, 35 interactors

Molecular INTeraction database

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MINTi
O14745

STRING: functional protein association networks

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STRINGi
9606.ENSP00000262613

<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

1358
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
O14745

Database of comparative protein structure models

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ModBasei
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
O14745

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini14 – 94PDZ 1PROSITE-ProRule annotationAdd BLAST81
Domaini154 – 234PDZ 2PROSITE-ProRule annotationAdd BLAST81

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410ITAB Eukaryota
ENOG4110SZZ LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00950000182849

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000089940

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O14745

KEGG Orthology (KO)

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KOi
K13365

Identification of Orthologs from Complete Genome Data

More...
OMAi
PPMDWTK

Database of Orthologous Groups

More...
OrthoDBi
880632at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O14745

TreeFam database of animal gene trees

More...
TreeFami
TF350449

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR015098 EBP50_C-term
IPR031199 NHERF-1
IPR017300 NHERF-1/NHERF-2
IPR001478 PDZ
IPR041489 PDZ_6
IPR036034 PDZ_sf

The PANTHER Classification System

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PANTHERi
PTHR14191:SF7 PTHR14191:SF7, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF09007 EBP50_C, 1 hit
PF17820 PDZ_6, 2 hits

PIRSF; a whole-protein classification database

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PIRSFi
PIRSF037866 EBP50, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00228 PDZ, 2 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF50156 SSF50156, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50106 PDZ, 2 hits

<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_length">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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.<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 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O14745-1) [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
MSADAAAGAP LPRLCCLEKG PNGYGFHLHG EKGKLGQYIR LVEPGSPAEK
60 70 80 90 100
AGLLAGDRLV EVNGENVEKE THQQVVSRIR AALNAVRLLV VDPETDEQLQ
110 120 130 140 150
KLGVQVREEL LRAQEAPGQA EPPAAAEVQG AGNENEPREA DKSHPEQREL
160 170 180 190 200
RPRLCTMKKG PSGYGFNLHS DKSKPGQFIR SVDPDSPAEA SGLRAQDRIV
210 220 230 240 250
EVNGVCMEGK QHGDVVSAIR AGGDETKLLV VDRETDEFFK KCRVIPSQEH
260 270 280 290 300
LNGPLPVPFT NGEIQKENSR EALAEAALES PRPALVRSAS SDTSEELNSQ
310 320 330 340 350
DSPPKQDSTA PSSTSSSDPI LDFNISLAMA KERAHQKRSS KRAPQMDWSK

KNELFSNL
Length:358
Mass (Da):38,868
Last modified:January 23, 2007 - v4
<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:iE33AF87016D37A65
GO
Isoform 2 (identifier: O14745-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-156: Missing.

Note: No experimental confirmation available.
Show »
Length:202
Mass (Da):22,034
Checksum:i544A8F15B453C859
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3QRP6J3QRP6_HUMAN
Na(+)/H(+) exchange regulatory cofa...
SLC9A3R1
215Annotation score:

Annotation score:1 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>
J3QRA3J3QRA3_HUMAN
Na(+)/H(+) exchange regulatory cofa...
SLC9A3R1
35Annotation score:

Annotation score:1 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>

<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 AAH49220 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06766168E → A in NPHLOP2; impairs the interaction with SLC34A1; causes a reduction of SLC34A1 amount on cell membrane and affects SLC34A1-dependent phosphate uptake. 1 PublicationCorresponds to variant dbSNP:rs139622189EnsemblClinVar.1
Natural variantiVAR_034899110L → V in NPHLOP2; the mutant expressed in cultured renal cells increases the generation of cyclic AMP (cAMP) by parathyroid hormone (PTH) and inhibits phosphate transport. 1 PublicationCorresponds to variant dbSNP:rs35910969EnsemblClinVar.1
Natural variantiVAR_048021153R → Q in NPHLOP2; the mutant expressed in cultured renal cells increases the generation of cAMP by PTH and inhibits phosphate transport. 1 PublicationCorresponds to variant dbSNP:rs41282065EnsemblClinVar.1
Natural variantiVAR_048022225E → K in NPHLOP2; the mutant expressed in cultured renal cells increases the generation of cAMP by PTH and inhibits phosphate transport. 1 PublicationCorresponds to variant dbSNP:rs119486097EnsemblClinVar.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_0554971 – 156Missing in isoform 2. 1 PublicationAdd BLAST156

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF015926 mRNA Translation: AAC52084.1
AF036241 mRNA Translation: AAC04572.1
AK128474 mRNA Translation: BAG54683.1
AC016888 Genomic DNA No translation available.
CH471099 Genomic DNA Translation: EAW89189.1
BC001443 mRNA Translation: AAH01443.1
BC003361 mRNA Translation: AAH03361.1
BC011777 mRNA Translation: AAH11777.1
BC049220 mRNA Translation: AAH49220.1 Different initiation.
BC053350 mRNA Translation: AAH53350.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS11705.1 [O14745-1]

NCBI Reference Sequences

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RefSeqi
NP_004243.1, NM_004252.4 [O14745-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000262613; ENSP00000262613; ENSG00000109062 [O14745-1]
ENST00000413388; ENSP00000464982; ENSG00000109062 [O14745-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
9368

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:9368

UCSC genome browser

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UCSCi
uc002jlo.5 human [O14745-1]

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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF015926 mRNA Translation: AAC52084.1
AF036241 mRNA Translation: AAC04572.1
AK128474 mRNA Translation: BAG54683.1
AC016888 Genomic DNA No translation available.
CH471099 Genomic DNA Translation: EAW89189.1
BC001443 mRNA Translation: AAH01443.1
BC003361 mRNA Translation: AAH03361.1
BC011777 mRNA Translation: AAH11777.1
BC049220 mRNA Translation: AAH49220.1 Different initiation.
BC053350 mRNA Translation: AAH53350.1
CCDSiCCDS11705.1 [O14745-1]
RefSeqiNP_004243.1, NM_004252.4 [O14745-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1G9OX-ray1.50A11-99[»]
1GQ4X-ray1.90A11-94[»]
1GQ5X-ray2.20A11-94[»]
1I92X-ray1.70A11-94[»]
1SGHX-ray3.50B321-358[»]
2D10X-ray2.50E/F/G/H331-358[»]
2JXONMR-A150-240[»]
2KJDNMR-A150-270[»]
2KRGNMR-A150-358[»]
2M0TNMR-A11-120[»]
2M0UNMR-A11-120[»]
2M0VNMR-A150-270[»]
2OZFX-ray1.50A150-235[»]
4JL7X-ray1.16A11-95[»]
4LMMX-ray1.10A11-94[»]
4MPAX-ray1.10A11-94[»]
4N6XX-ray1.05A11-94[»]
4PQWX-ray1.47A11-94[»]
4Q3HX-ray1.44A/B150-234[»]
SMRiO14745
ModBaseiSearch...

Protein-protein interaction databases

BioGridi114769, 113 interactors
CORUMiO14745
DIPiDIP-29092N
ELMiO14745
IntActiO14745, 35 interactors
MINTiO14745
STRINGi9606.ENSP00000262613

Protein family/group databases

TCDBi8.A.24.1.1 the ezrin/radixin/moesin-binding phosphoprotein 50 (ebp50) family

PTM databases

iPTMnetiO14745
PhosphoSitePlusiO14745

Polymorphism and mutation databases

BioMutaiSLC9A3R1

Proteomic databases

CPTACiCPTAC-588
CPTAC-589
EPDiO14745
jPOSTiO14745
MaxQBiO14745
PaxDbiO14745
PeptideAtlasiO14745
PRIDEiO14745
ProteomicsDBi48202 [O14745-1]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262613; ENSP00000262613; ENSG00000109062 [O14745-1]
ENST00000413388; ENSP00000464982; ENSG00000109062 [O14745-2]
GeneIDi9368
KEGGihsa:9368
UCSCiuc002jlo.5 human [O14745-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
9368
DisGeNETi9368

GeneCards: human genes, protein and diseases

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GeneCardsi
SLC9A3R1
HGNCiHGNC:11075 SLC9A3R1
HPAiCAB001962
HPA009672
HPA027247
MalaCardsiSLC9A3R1
MIMi604990 gene
612287 phenotype
neXtProtiNX_O14745
OpenTargetsiENSG00000109062
Orphaneti244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis
PharmGKBiPA35931

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410ITAB Eukaryota
ENOG4110SZZ LUCA
GeneTreeiENSGT00950000182849
HOGENOMiHOG000089940
InParanoidiO14745
KOiK13365
OMAiPPMDWTK
OrthoDBi880632at2759
PhylomeDBiO14745
TreeFamiTF350449

Enzyme and pathway databases

SignaLinkiO14745
SIGNORiO14745

Miscellaneous databases

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

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ChiTaRSi
SLC9A3R1 human
EvolutionaryTraceiO14745

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Sodium-hydrogen_antiporter_3_regulator_1

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

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GenomeRNAii
9368

Protein Ontology

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PROi
PR:O14745

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000109062 Expressed in 217 organ(s), highest expression level in esophagus mucosa
ExpressionAtlasiO14745 baseline and differential
GenevisibleiO14745 HS

Family and domain databases

InterProiView protein in InterPro
IPR015098 EBP50_C-term
IPR031199 NHERF-1
IPR017300 NHERF-1/NHERF-2
IPR001478 PDZ
IPR041489 PDZ_6
IPR036034 PDZ_sf
PANTHERiPTHR14191:SF7 PTHR14191:SF7, 1 hit
PfamiView protein in Pfam
PF09007 EBP50_C, 1 hit
PF17820 PDZ_6, 2 hits
PIRSFiPIRSF037866 EBP50, 1 hit
SMARTiView protein in SMART
SM00228 PDZ, 2 hits
SUPFAMiSSF50156 SSF50156, 2 hits
PROSITEiView protein in PROSITE
PS50106 PDZ, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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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 nameiNHRF1_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: O14745
Secondary accession number(s): B3KY21, O43552, Q86WQ5
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 2, 2004
Last sequence update: January 23, 2007
Last modified: July 31, 2019
This is version 203 of the entry and version 4 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, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  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. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
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