Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

O14745

- NHRF1_HUMAN

UniProt

O14745 - NHRF1_HUMAN

Protein

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

Gene

SLC9A3R1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 155 (01 Oct 2014)
      Sequence version 4 (23 Jan 2007)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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

    GO - Molecular functioni

    1. beta-2 adrenergic receptor binding Source: UniProtKB
    2. beta-catenin binding Source: UniProtKB
    3. chloride channel regulator activity Source: UniProtKB
    4. growth factor receptor binding Source: UniProtKB
    5. PDZ domain binding Source: UniProtKB
    6. phosphatase binding Source: UniProtKB
    7. protein binding Source: UniProtKB
    8. protein self-association Source: UniProtKB
    9. receptor binding Source: UniProtKB

    GO - Biological processi

    1. actin cytoskeleton organization Source: Ensembl
    2. adenylate cyclase-activating dopamine receptor signaling pathway Source: Ensembl
    3. bile acid secretion Source: UniProtKB
    4. cellular phosphate ion homeostasis Source: Ensembl
    5. cellular protein localization Source: Ensembl
    6. glutathione transport Source: UniProtKB
    7. microvillus assembly Source: UniProtKB
    8. negative regulation of cell migration Source: Ensembl
    9. negative regulation of cell proliferation Source: UniProtKB
    10. negative regulation of ERK1 and ERK2 cascade Source: UniProtKB
    11. negative regulation of phosphatidylinositol 3-kinase signaling Source: UniProtKB
    12. negative regulation of platelet-derived growth factor receptor signaling pathway Source: UniProtKB
    13. negative regulation of protein kinase B signaling Source: UniProtKB
    14. negative regulation of sodium:proton antiporter activity Source: Ensembl
    15. negative regulation of sodium ion transport Source: Ensembl
    16. phospholipase C-activating dopamine receptor signaling pathway Source: Ensembl
    17. positive regulation of intrinsic apoptotic signaling pathway Source: UniProtKB
    18. protein complex assembly Source: ProtInc
    19. regulation of excretion Source: Ensembl
    20. regulation of protein kinase activity Source: UniProtKB
    21. regulation of sodium:proton antiporter activity Source: UniProtKB
    22. renal absorption Source: UniProtKB
    23. renal phosphate ion absorption Source: UniProtKB
    24. renal sodium ion transport Source: Ensembl
    25. Wnt signaling pathway Source: UniProtKB-KW

    Keywords - Biological processi

    Wnt signaling pathway

    Enzyme and pathway databases

    SignaLinkiO14745.

    Protein family/group databases

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

    Names & Taxonomyi

    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
    Gene namesi
    Name:SLC9A3R1
    Synonyms:NHERF, NHERF1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:11075. SLC9A3R1.

    Subcellular locationi

    Cytoplasm By similarity. Apical cell membrane By similarity. Endomembrane system; Peripheral membrane protein. Cell projectionfilopodium. Cell projectionruffle. Cell projectionmicrovillus
    Note: Translocates from the cytoplasm to the apical cell membrane in a PODXL-dependent manner. Colocalizes with CFTR at the midpiece of sperm tail By similarity. Colocalizes with actin in microvilli-rich apical regions of the syncytiotrophoblast. Found in microvilli, ruffling membrane and filopodia of HeLa cells. Present in lipid rafts of T-cells.By similarity

    GO - Cellular componenti

    1. actin cytoskeleton Source: ProtInc
    2. apical plasma membrane Source: UniProtKB-SubCell
    3. brush border membrane Source: Ensembl
    4. cell periphery Source: UniProtKB
    5. centrosome Source: HPA
    6. cytoplasm Source: UniProtKB
    7. endomembrane system Source: UniProtKB-SubCell
    8. extracellular vesicular exosome Source: UniProt
    9. filopodium Source: UniProtKB-SubCell
    10. intracellular membrane-bounded organelle Source: HPA
    11. membrane Source: UniProtKB
    12. membrane raft Source: Ensembl
    13. microvillus Source: UniProtKB
    14. microvillus membrane Source: UniProtKB
    15. plasma membrane Source: HPA
    16. ruffle Source: UniProtKB-SubCell
    17. sperm midpiece Source: UniProtKB
    18. vesicle Source: UniProtKB

    Keywords - Cellular componenti

    Cell membrane, Cell projection, Cytoplasm, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2) [MIM:612287]: A disease characterized by decreased renal phosphate absorption, renal phosphate wasting, hypophosphatemia, hyperphosphaturia, hypercalciuria, nephrolithiasis and osteoporosis.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti68 – 681E → A in NPHLOP2; impairs the interaction with SLC34A1; causes a reduction of SLC34A1 amount on cell membrane and affects SLC34A1-dependent phosphate uptake. 1 Publication
    Corresponds to variant rs139622189 [ dbSNP | Ensembl ].
    VAR_067661
    Natural varianti110 – 1101L → 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 Publication
    Corresponds to variant rs35910969 [ dbSNP | Ensembl ].
    VAR_034899
    Natural varianti153 – 1531R → Q in NPHLOP2; the mutant expressed in cultured renal cells increases the generation of cAMP by PTH and inhibits phosphate transport. 1 Publication
    Corresponds to variant rs41282065 [ dbSNP | Ensembl ].
    VAR_048021
    Natural varianti225 – 2251E → K in NPHLOP2; the mutant expressed in cultured renal cells increases the generation of cAMP by PTH and inhibits phosphate transport. 1 Publication
    Corresponds to variant rs119486097 [ dbSNP | Ensembl ].
    VAR_048022

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi355 – 3551F → R: Loss of MSX binding. 1 Publication
    Mutagenesisi358 – 3581Missing: Reduces MSX binding. 1 Publication

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi612287. phenotype.
    Orphaneti244305. Dominant hypophosphatemia with nephrolithiasis or osteoporosis.
    PharmGKBiPA35931.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed5 Publications
    Chaini2 – 358357Na(+)/H(+) exchange regulatory cofactor NHE-RF1PRO_0000096799Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylserine4 Publications
    Modified residuei46 – 461Phosphoserine2 Publications
    Modified residuei162 – 1621Phosphoserine2 Publications
    Modified residuei269 – 2691Phosphoserine2 Publications
    Modified residuei280 – 2801Phosphoserine7 Publications
    Modified residuei290 – 2901Phosphoserine1 Publication
    Modified residuei291 – 2911Phosphoserine1 Publication
    Modified residuei293 – 2931Phosphothreonine1 Publication
    Modified residuei294 – 2941PhosphoserineBy similarity
    Modified residuei302 – 3021PhosphoserineBy similarity

    Post-translational modificationi

    Phosphorylated on serine residues.7 Publications

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    MaxQBiO14745.
    PaxDbiO14745.
    PeptideAtlasiO14745.
    PRIDEiO14745.

    PTM databases

    PhosphoSiteiO14745.

    Expressioni

    Tissue specificityi

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

    Inductioni

    By estrogen.1 Publication

    Gene expression databases

    ArrayExpressiO14745.
    BgeeiO14745.
    CleanExiHS_SLC9A3R1.
    GenevestigatoriO14745.

    Organism-specific databases

    HPAiCAB001962.
    HPA009672.
    HPA027247.

    Interactioni

    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, GNB2L1, 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

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    ADRB2P075506EBI-349787,EBI-491169
    CFTRP135695EBI-349787,EBI-349854
    mGluR1aQ9R0W02EBI-349787,EBI-8505383From a different organism.
    MSNP260385EBI-349787,EBI-528768
    NF2P35240-14EBI-349787,EBI-1014500
    P2RY1P479002EBI-349787,EBI-8677223
    PDGFRBP096195EBI-349787,EBI-641237
    PTENP604845EBI-349787,EBI-696162

    Protein-protein interaction databases

    BioGridi114769. 75 interactions.
    DIPiDIP-29092N.
    IntActiO14745. 22 interactions.
    MINTiMINT-4998796.
    STRINGi9606.ENSP00000262613.

    Structurei

    Secondary structure

    1
    358
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi13 – 186
    Beta strandi23 – 253
    Beta strandi27 – 304
    Beta strandi32 – 409
    Helixi47 – 504
    Beta strandi58 – 625
    Helixi72 – 8110
    Beta strandi82 – 9110
    Turni93 – 953
    Turni101 – 1033
    Turni106 – 1083
    Helixi109 – 1124
    Beta strandi115 – 1184
    Beta strandi153 – 1586
    Turni160 – 1623
    Beta strandi166 – 1705
    Beta strandi172 – 18211
    Beta strandi184 – 1863
    Helixi187 – 1904
    Beta strandi198 – 2025
    Helixi212 – 22110
    Turni222 – 2243
    Beta strandi225 – 2317
    Helixi233 – 2386
    Helixi248 – 2514
    Beta strandi286 – 2894
    Helixi297 – 2993
    Beta strandi300 – 3023
    Beta strandi313 – 3153
    Helixi323 – 3286
    Helixi329 – 3335
    Helixi348 – 3558

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    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[»]
    ProteinModelPortaliO14745.
    SMRiO14745. Positions 11-120, 150-358.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiO14745.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini14 – 9481PDZ 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini154 – 23481PDZ 2PROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 2 PDZ (DHR) domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiNOG321335.
    HOGENOMiHOG000089940.
    HOVERGENiHBG052616.
    InParanoidiO14745.
    KOiK13365.
    OMAiVEKETHQ.
    PhylomeDBiO14745.
    TreeFamiTF350449.

    Family and domain databases

    Gene3Di2.30.42.10. 2 hits.
    InterProiIPR015098. EBP50_C-term.
    IPR017300. NaH_exchngr_reg_CF_NHE-RF.
    IPR001478. PDZ.
    [Graphical view]
    PfamiPF09007. EBP50_C-term. 1 hit.
    PF00595. PDZ. 2 hits.
    [Graphical view]
    PIRSFiPIRSF037866. EBP50. 1 hit.
    ProDomiPD283022. EBP50_C-term. 1 hit.
    [Graphical view] [Entries sharing at least one domain]
    SMARTiSM00228. PDZ. 2 hits.
    [Graphical view]
    SUPFAMiSSF50156. SSF50156. 2 hits.
    PROSITEiPS50106. PDZ. 2 hits.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

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

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O14745-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' 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

    MSADAAAGAP LPRLCCLEKG PNGYGFHLHG EKGKLGQYIR LVEPGSPAEK    50
    AGLLAGDRLV EVNGENVEKE THQQVVSRIR AALNAVRLLV VDPETDEQLQ 100
    KLGVQVREEL LRAQEAPGQA EPPAAAEVQG AGNENEPREA DKSHPEQREL 150
    RPRLCTMKKG PSGYGFNLHS DKSKPGQFIR SVDPDSPAEA SGLRAQDRIV 200
    EVNGVCMEGK QHGDVVSAIR AGGDETKLLV VDRETDEFFK KCRVIPSQEH 250
    LNGPLPVPFT NGEIQKENSR EALAEAALES PRPALVRSAS SDTSEELNSQ 300
    DSPPKQDSTA PSSTSSSDPI LDFNISLAMA KERAHQKRSS KRAPQMDWSK 350
    KNELFSNL 358
    Length:358
    Mass (Da):38,868
    Last modified:January 23, 2007 - v4
    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

    Sequence cautioni

    The sequence AAH49220.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti68 – 681E → A in NPHLOP2; impairs the interaction with SLC34A1; causes a reduction of SLC34A1 amount on cell membrane and affects SLC34A1-dependent phosphate uptake. 1 Publication
    Corresponds to variant rs139622189 [ dbSNP | Ensembl ].
    VAR_067661
    Natural varianti110 – 1101L → 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 Publication
    Corresponds to variant rs35910969 [ dbSNP | Ensembl ].
    VAR_034899
    Natural varianti153 – 1531R → Q in NPHLOP2; the mutant expressed in cultured renal cells increases the generation of cAMP by PTH and inhibits phosphate transport. 1 Publication
    Corresponds to variant rs41282065 [ dbSNP | Ensembl ].
    VAR_048021
    Natural varianti225 – 2251E → K in NPHLOP2; the mutant expressed in cultured renal cells increases the generation of cAMP by PTH and inhibits phosphate transport. 1 Publication
    Corresponds to variant rs119486097 [ dbSNP | Ensembl ].
    VAR_048022

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 156156Missing in isoform 2. 1 PublicationVSP_055497Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    RefSeqiNP_004243.1. NM_004252.4.
    UniGeneiHs.724482.
    Hs.744126.

    Genome annotation databases

    EnsembliENST00000262613; ENSP00000262613; ENSG00000109062. [O14745-1]
    ENST00000413388; ENSP00000464982; ENSG00000109062. [O14745-2]
    GeneIDi9368.
    KEGGihsa:9368.
    UCSCiuc002jlo.4. human.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS11705.1.
    RefSeqi NP_004243.1. NM_004252.4.
    UniGenei Hs.724482.
    Hs.744126.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1G9O X-ray 1.50 A 11-99 [» ]
    1GQ4 X-ray 1.90 A 11-94 [» ]
    1GQ5 X-ray 2.20 A 11-94 [» ]
    1I92 X-ray 1.70 A 11-94 [» ]
    1SGH X-ray 3.50 B 321-358 [» ]
    2D10 X-ray 2.50 E/F/G/H 331-358 [» ]
    2JXO NMR - A 150-240 [» ]
    2KJD NMR - A 150-270 [» ]
    2KRG NMR - A 150-358 [» ]
    2M0T NMR - A 11-120 [» ]
    2M0U NMR - A 11-120 [» ]
    2M0V NMR - A 150-270 [» ]
    2OZF X-ray 1.50 A 150-235 [» ]
    4JL7 X-ray 1.16 A 11-95 [» ]
    4LMM X-ray 1.10 A 11-94 [» ]
    4MPA X-ray 1.10 A 11-94 [» ]
    4N6X X-ray 1.05 A 11-94 [» ]
    4PQW X-ray 1.47 A 11-94 [» ]
    4Q3H X-ray 1.44 A/B 150-234 [» ]
    ProteinModelPortali O14745.
    SMRi O14745. Positions 11-120, 150-358.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114769. 75 interactions.
    DIPi DIP-29092N.
    IntActi O14745. 22 interactions.
    MINTi MINT-4998796.
    STRINGi 9606.ENSP00000262613.

    Protein family/group databases

    TCDBi 8.A.24.1.1. the ezrin/radixin/moesin-binding phosphoprotein 50 (ebp50) family.

    PTM databases

    PhosphoSitei O14745.

    Proteomic databases

    MaxQBi O14745.
    PaxDbi O14745.
    PeptideAtlasi O14745.
    PRIDEi O14745.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000262613 ; ENSP00000262613 ; ENSG00000109062 . [O14745-1 ]
    ENST00000413388 ; ENSP00000464982 ; ENSG00000109062 . [O14745-2 ]
    GeneIDi 9368.
    KEGGi hsa:9368.
    UCSCi uc002jlo.4. human.

    Organism-specific databases

    CTDi 9368.
    GeneCardsi GC17P072744.
    HGNCi HGNC:11075. SLC9A3R1.
    HPAi CAB001962.
    HPA009672.
    HPA027247.
    MIMi 604990. gene.
    612287. phenotype.
    neXtProti NX_O14745.
    Orphaneti 244305. Dominant hypophosphatemia with nephrolithiasis or osteoporosis.
    PharmGKBi PA35931.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG321335.
    HOGENOMi HOG000089940.
    HOVERGENi HBG052616.
    InParanoidi O14745.
    KOi K13365.
    OMAi VEKETHQ.
    PhylomeDBi O14745.
    TreeFami TF350449.

    Enzyme and pathway databases

    SignaLinki O14745.

    Miscellaneous databases

    ChiTaRSi SLC9A3R1. human.
    EvolutionaryTracei O14745.
    GeneWikii Sodium-hydrogen_antiporter_3_regulator_1.
    GenomeRNAii 9368.
    NextBioi 35084.
    PROi O14745.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O14745.
    Bgeei O14745.
    CleanExi HS_SLC9A3R1.
    Genevestigatori O14745.

    Family and domain databases

    Gene3Di 2.30.42.10. 2 hits.
    InterProi IPR015098. EBP50_C-term.
    IPR017300. NaH_exchngr_reg_CF_NHE-RF.
    IPR001478. PDZ.
    [Graphical view ]
    Pfami PF09007. EBP50_C-term. 1 hit.
    PF00595. PDZ. 2 hits.
    [Graphical view ]
    PIRSFi PIRSF037866. EBP50. 1 hit.
    ProDomi PD283022. EBP50_C-term. 1 hit.
    [Graphical view ] [Entries sharing at least one domain ]
    SMARTi SM00228. PDZ. 2 hits.
    [Graphical view ]
    SUPFAMi SSF50156. SSF50156. 2 hits.
    PROSITEi PS50106. PDZ. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Identification of EBP50: a PDZ-containing phosphoprotein that associates with members of the ezrin-radixin-moesin family."
      Reczek D., Berryman M., Bretscher A.
      J. Cell Biol. 139:169-179(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PROTEIN SEQUENCE OF 19-32 AND 341-350, PHOSPHORYLATION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INTERACTION WITH EZR AND MSN.
    2. "NHE-RF, a regulatory cofactor for Na(+)-H+ exchange, is a common interactor for merlin and ERM (MERM) proteins."
      Murthy A., Gonzalez-Agosti C., Cordero E., Pinney D., Candia C., Solomon F., Gusella J., Ramesh V.
      J. Biol. Chem. 273:1273-1276(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH EZR; RDX AND MSN.
      Tissue: Fetal brain.
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Liver.
    4. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Blood, Lymph, Pancreas and Placenta.
    7. "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides."
      Gevaert K., Goethals M., Martens L., Van Damme J., Staes A., Thomas G.R., Vandekerckhove J.
      Nat. Biotechnol. 21:566-569(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 2-13.
      Tissue: Platelet.
    8. Bienvenut W.V., Kanor S., Tissot J.-D., Quadroni M.
      Submitted (MAY-2006) to UniProtKB
      Cited for: PROTEIN SEQUENCE OF 2-12; 39-49 AND 89-100, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT SER-2, IDENTIFICATION BY MASS SPECTROMETRY.
      Tissue: T-cell.
    9. "cAMP-mediated inhibition of the epithelial brush border Na+/H+ exchanger, NHE3, requires an associated regulatory protein."
      Yun C.H.C., Oh S., Zizak M., Steplock D., Tsao S., Tse C.-M., Weinman E.J., Donowitz M.
      Proc. Natl. Acad. Sci. U.S.A. 94:3010-3015(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH SLC9A3, TISSUE SPECIFICITY.
    10. "A kinase-regulated PDZ-domain interaction controls endocytic sorting of the beta2-adrenergic receptor."
      Cao T.T., Deacon H.W., Reczek D., Bretscher A., von Zastrow M.
      Nature 401:286-290(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH ADRB2.
    11. "Interaction between two adapter proteins, PAG and EBP50: a possible link between membrane rafts and actin cytoskeleton."
      Brdickova N., Brdicka T., Andera L., Spicka J., Angelisova P., Milgram S.L., Horejsi V.
      FEBS Lett. 507:133-136(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH PAG1, SUBCELLULAR LOCATION.
    12. "Identification of EPI64, a TBC/rabGAP domain-containing microvillar protein that binds to the first PDZ domain of EBP50 and E3KARP."
      Reczek D., Bretscher A.
      J. Cell Biol. 153:191-206(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH EPI64; ARHGAP17; PLCB3 AND EZR.
    13. "Protein kinase C epsilon-dependent regulation of cystic fibrosis transmembrane regulator involves binding to a receptor for activated C kinase (RACK1) and RACK1 binding to Na+/H+ exchange regulatory factor."
      Liedtke C.M., Yun C.H.C., Kyle N., Wang D.
      J. Biol. Chem. 277:22925-22933(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH GNB2L1.
    14. "Ezrin-radixin-moesin-binding phosphoprotein-50/Na+/H+ exchanger regulatory factor (EBP50/NHERF) blocks U50,488H-induced down-regulation of the human kappa opioid receptor by enhancing its recycling rate."
      Li J.-G., Chen C., Liu-Chen L.-Y.
      J. Biol. Chem. 277:27545-27552(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH OPRK1.
    15. "Epithelial inducible nitric-oxide synthase is an apical EBP50-binding protein that directs vectorial nitric oxide output."
      Glynne P.A., Darling K.E.A., Picot J., Evans T.J.
      J. Biol. Chem. 277:33132-33138(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH NOS2.
    16. "Regulation of GTP-binding protein alpha q (Galpha q) signaling by the ezrin-radixin-moesin-binding phosphoprotein-50 (EBP50)."
      Rochdi M.D., Watier V., La Madeleine C., Nakata H., Kozasa T., Parent J.-L.
      J. Biol. Chem. 277:40751-40759(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH GNAQ.
    17. "The cystic fibrosis transmembrane conductance regulator interacts with and regulates the activity of the HCO3- salvage transporter human Na+-HCO3-cotransport isoform 3."
      Park M., Ko S.B.H., Choi J.Y., Muallem G., Thomas P.J., Pushkin A., Lee M.-S., Kim J.Y., Lee M.G., Muallem S., Kurtz I.
      J. Biol. Chem. 277:50503-50509(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH SLC4A7 AND CFTR.
    18. "The PDZ-interacting domain of TRPC4 controls its localization and surface expression in HEK293 cells."
      Mery L., Strauss B., Dufour J.F., Krause K.H., Hoth M.
      J. Cell Sci. 115:3497-3508(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH TRPC4.
    19. "Estrogen receptor inducibility of the human Na+/H+ exchanger regulatory factor/ezrin-radixin-moesin binding protein 50 (NHE-RF/EBP50) gene involving multiple half-estrogen response elements."
      Ediger T.R., Park S.-E., Katzenellenbogen B.S.
      Mol. Endocrinol. 16:1828-1839(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: INDUCTION BY ESTROGEN.
    20. "The COOH termini of NBC3 and the 56-kDa H+-ATPase subunit are PDZ motifs involved in their interaction."
      Pushkin A., Abuladze N., Newman D., Muronets V., Sassani P., Tatishchev S., Kurtz I.
      Am. J. Physiol. 284:C667-C673(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH SLC4A7 AND ATP6V1B1.
    21. "Isoforms of SLC26A6 mediate anion transport and have functional PDZ interaction domains."
      Lohi H., Lamprecht G., Markovich D., Heil A., Kujala M., Seidler U., Kere J.
      Am. J. Physiol. 284:C769-C779(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH SLC26A6.
    22. "EBP50, a beta-catenin-associating protein, enhances Wnt signaling and is over-expressed in hepatocellular carcinoma."
      Shibata T., Chuma M., Kokubu A., Sakamoto M., Hirohashi S.
      Hepatology 38:178-186(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH CTNNB1.
    23. "The PDZ-binding chloride channel ClC-3B localizes to the Golgi and associates with cystic fibrosis transmembrane conductance regulator-interacting PDZ proteins."
      Gentzsch M., Cui L., Mengos A., Chang X.-B., Chen J.-H., Riordan J.R.
      J. Biol. Chem. 278:6440-6449(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH CLCN3.
    24. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
      Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
      Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-280, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    25. "Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra."
      Yu L.R., Zhu Z., Chan K.C., Issaq H.J., Dimitrov D.S., Veenstra T.D.
      J. Proteome Res. 6:4150-4162(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-280, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    26. "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis."
      Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III
      J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-280, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    27. "Phosphorylation analysis of primary human T lymphocytes using sequential IMAC and titanium oxide enrichment."
      Carrascal M., Ovelleiro D., Casas V., Gay M., Abian J.
      J. Proteome Res. 7:5167-5176(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: T-cell.
    28. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-280, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Platelet.
    29. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    30. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    31. "MCC, a new interacting protein for Scrib, is required for cell migration in epithelial cells."
      Arnaud C., Sebbagh M., Nola S., Audebert S., Bidaut G., Hermant A., Gayet O., Dusetti N.J., Ollendorff V., Santoni M.J., Borg J.P., Lecine P.
      FEBS Lett. 583:2326-2332(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH MCC.
    32. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    33. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-46 AND SER-280, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    34. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    35. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-162; SER-269 AND SER-280, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    36. "Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
      Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T., Giglione C.
      Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    37. "A new human NHERF1 mutation decreases renal phosphate transporter NPT2a expression by a PTH-independent mechanism."
      Courbebaisse M., Leroy C., Bakouh N., Salaun C., Beck L., Grandchamp B., Planelles G., Hall R.A., Friedlander G., Prie D.
      PLoS ONE 7:E34764-E34764(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH SLC34A1, VARIANT NPHLOP2 ALA-68, CHARACTERIZATION OF VARIANT NPHLOP2 ALA-68.
    38. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    39. "Structural basis of the Na+/H+ exchanger regulatory factor PDZ1 interaction with the carboxyl-terminal region of the cystic fibrosis transmembrane conductance regulator."
      Karthikeyan S., Leung T., Ladias J.A.A.
      J. Biol. Chem. 276:19683-19686(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (1.7 ANGSTROMS) OF 11-99 IN COMPLEX WITH CFTR.
    40. "Crystal structure of the PDZ1 domain of human Na(+)/H(+) exchanger regulatory factor provides insights into the mechanism of carboxyl-terminal leucine recognition by class I PDZ domains."
      Karthikeyan S., Leung T., Birrane G., Webster G., Ladias J.A.A.
      J. Mol. Biol. 308:963-973(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (1.5 ANGSTROMS) OF 11-99, HOMODIMERIZATION.
    41. "Structural determinants of the Na+/H+ exchanger regulatory factor interaction with the beta 2 adrenergic and platelet-derived growth factor receptors."
      Karthikeyan S., Leung T., Ladias J.A.A.
      J. Biol. Chem. 277:18973-18978(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (1.9 ANGSTROMS) OF 11-99 IN COMPLEX WITH PDGFRA; PDGFRB OR ADRB2.
    42. "The EBP50-moesin interaction involves a binding site regulated by direct masking on the FERM domain."
      Finnerty C.M., Chambers D., Ingraffea J., Faber H.R., Karplus P.A., Bretscher A.
      J. Cell Sci. 117:1547-1552(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (3.5 ANGSTROMS) OF 321-358 IN COMPLEX WITH MSX, MUTAGENESIS OF PHE-355 AND LEU-358.
    43. "Structural basis for NHERF recognition by ERM proteins."
      Terawaki S., Maesaki R., Hakoshima T.
      Structure 14:777-789(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.5 ANGSTROMS) OF 331-358 IN COMPLEX WITH RDX.
    44. "The crystal structure of the 2nd PDZ domain of the human NHERF-1 (SLC9A3R1)."
      Structural genomics consortium (SGC)
      Submitted (MAR-2007) to the PDB data bank
      Cited for: X-RAY CRYSTALLOGRAPHY (1.5 ANGSTROMS) OF 150-236.
    45. Cited for: FUNCTION IN RENAL PHOSPHATE ABSORPTION, VARIANTS NPHLOP2 VAL-110; GLN-153 AND LYS-225, CHARACTERIZATION OF VARIANTS NPHLOP2 VAL-110; GLN-153 AND LYS-225.

    Entry informationi

    Entry nameiNHRF1_HUMAN
    AccessioniPrimary (citable) accession number: O14745
    Secondary accession number(s): B3KY21, O43552, Q86WQ5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 2, 2004
    Last sequence update: January 23, 2007
    Last modified: October 1, 2014
    This is version 155 of the entry and version 4 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 17
      Human chromosome 17: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3