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P54710

- ATNG_HUMAN

UniProt

P54710 - ATNG_HUMAN

Protein

Sodium/potassium-transporting ATPase subunit gamma

Gene

FXYD2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
  1. Functioni

    May be involved in forming the receptor site for cardiac glycoside binding or may modulate the transport function of the sodium ATPase.

    GO - Molecular functioni

    1. ion channel activity Source: InterPro
    2. sodium:potassium-exchanging ATPase activity Source: ProtInc
    3. transporter activity Source: ProtInc

    GO - Biological processi

    1. ion transmembrane transport Source: Reactome
    2. regulation of cell growth Source: Ensembl
    3. regulation of cell proliferation Source: Ensembl
    4. sodium ion transmembrane transport Source: GOC
    5. transmembrane transport Source: Reactome
    6. transport Source: ProtInc

    Keywords - Biological processi

    Ion transport, Potassium transport, Sodium transport, Sodium/potassium transport, Transport

    Keywords - Ligandi

    Potassium, Sodium

    Enzyme and pathway databases

    ReactomeiREACT_25149. Ion transport by P-type ATPases.

    Protein family/group databases

    TCDBi1.A.27.2.1. the phospholemman (plm) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Sodium/potassium-transporting ATPase subunit gamma
    Short name:
    Na(+)/K(+) ATPase subunit gamma
    Alternative name(s):
    FXYD domain-containing ion transport regulator 2
    Sodium pump gamma chain
    Gene namesi
    Name:FXYD2
    Synonyms:ATP1C, ATP1G1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:4026. FXYD2.

    Subcellular locationi

    GO - Cellular componenti

    1. basolateral plasma membrane Source: Ensembl
    2. extracellular vesicular exosome Source: UniProt
    3. intracellular membrane-bounded organelle Source: Ensembl
    4. plasma membrane Source: Reactome
    5. sodium:potassium-exchanging ATPase complex Source: ProtInc

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Hypomagnesemia 2 (HOMG2) [MIM:154020]: A disorder due to primary renal wasting of magnesium. Plasma levels of other electrolytes are normal. The only abnormality found, in addition to low magnesium levels, is lowered renal excretion of calcium resulting in hypocalciuria.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti41 – 411G → R in HOMG2; fails to localize to plasma membrane. 1 Publication
    Corresponds to variant rs28938168 [ dbSNP | Ensembl ].
    VAR_013280

    Keywords - Diseasei

    Disease mutation, Primary hypomagnesemia

    Organism-specific databases

    MIMi154020. phenotype.
    Orphaneti34528. Autosomal dominant primary hypomagnesemia with hypocalciuria.
    PharmGKBiPA28442.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 6666Sodium/potassium-transporting ATPase subunit gammaPRO_0000148185Add
    BLAST

    Proteomic databases

    MaxQBiP54710.
    PaxDbiP54710.
    PRIDEiP54710.

    Expressioni

    Tissue specificityi

    Expressed in the distal convoluted tubule in the kidney. Found on basolateral membranes of nephron epithelial cells.

    Gene expression databases

    BgeeiP54710.
    CleanExiHS_FXYD2.
    GenevestigatoriP54710.

    Organism-specific databases

    HPAiCAB004649.

    Interactioni

    Subunit structurei

    Composed of three subunits: alpha (catalytic), beta and gamma.

    Protein-protein interaction databases

    STRINGi9606.ENSP00000314528.

    Structurei

    Secondary structure

    1
    66
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi20 – 234
    Helixi26 – 5126
    Beta strandi52 – 554

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2MKVNMR-A9-66[»]
    ProteinModelPortaliP54710.
    SMRiP54710. Positions 19-47.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei29 – 4618HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the FXYD family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG245297.
    HOGENOMiHOG000234468.
    HOVERGENiHBG100880.
    KOiK01538.
    OMAiDRWYLGG.
    OrthoDBiEOG786H66.
    PhylomeDBiP54710.
    TreeFamiTF333443.

    Family and domain databases

    InterProiIPR000272. Ion-transport_regulator_FXYD.
    [Graphical view]
    PfamiPF02038. ATP1G1_PLM_MAT8. 1 hit.
    [Graphical view]
    ProDomiPD005989. PD005989. 1 hit.
    [Graphical view] [Entries sharing at least one domain]
    PROSITEiPS01310. FXYD. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P54710-1) [UniParc]FASTAAdd to Basket

    Also known as: A

    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

    MTGLSMDGGG SPKGDVDPFY YDYETVRNGG LIFAGLAFIV GLLILLSRRF   50
    RCGGNKKRRQ INEDEP 66
    Length:66
    Mass (Da):7,283
    Last modified:January 23, 2002 - v3
    Checksum:iD00F21B5C01ACE75
    GO
    Isoform 2 (identifier: P54710-2) [UniParc]FASTAAdd to Basket

    Also known as: B

    The sequence of this isoform differs from the canonical sequence as follows:
         1-8: MTGLSMDG → MDRWYL

    Show »
    Length:64
    Mass (Da):7,355
    Checksum:iBB644F4CF05C2170
    GO

    Sequence cautioni

    The sequence AAB09425.1 differs from that shown. Reason: Frameshift at position 12.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti41 – 411G → R in HOMG2; fails to localize to plasma membrane. 1 Publication
    Corresponds to variant rs28938168 [ dbSNP | Ensembl ].
    VAR_013280

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 88MTGLSMDG → MDRWYL in isoform 2. 3 PublicationsVSP_001580

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U50743 mRNA. Translation: AAB09425.1. Frameshift.
    AF316896 Genomic DNA. Translation: AAG37906.1.
    AF316896 Genomic DNA. Translation: AAG37907.1.
    AF241235 Genomic DNA. Translation: AAG34359.1.
    AF241235 Genomic DNA. Translation: AAG34360.1.
    AF241236 mRNA. Translation: AAG34361.1.
    X86400 mRNA. Translation: CAA60152.1. Sequence problems.
    BT006721 mRNA. Translation: AAP35367.1.
    BC013289 mRNA. Translation: AAH13289.1.
    BC005302 mRNA. Translation: AAH05302.1.
    CCDSiCCDS8385.1. [P54710-2]
    CCDS8386.1. [P54710-1]
    PIRiS54159.
    RefSeqiNP_001671.2. NM_001680.4. [P54710-1]
    NP_067614.1. NM_021603.3. [P54710-2]
    UniGeneiHs.731865.

    Genome annotation databases

    EnsembliENST00000260287; ENSP00000260287; ENSG00000137731. [P54710-2]
    ENST00000292079; ENSP00000292079; ENSG00000137731. [P54710-1]
    ENST00000528014; ENSP00000432430; ENSG00000137731. [P54710-2]
    ENST00000532119; ENSP00000436414; ENSG00000137731. [P54710-2]
    GeneIDi486.
    KEGGihsa:486.
    UCSCiuc001prj.2. human. [P54710-1]
    uc001prk.1. human. [P54710-2]

    Polymorphism databases

    DMDMi20141251.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U50743 mRNA. Translation: AAB09425.1 . Frameshift.
    AF316896 Genomic DNA. Translation: AAG37906.1 .
    AF316896 Genomic DNA. Translation: AAG37907.1 .
    AF241235 Genomic DNA. Translation: AAG34359.1 .
    AF241235 Genomic DNA. Translation: AAG34360.1 .
    AF241236 mRNA. Translation: AAG34361.1 .
    X86400 mRNA. Translation: CAA60152.1 . Sequence problems.
    BT006721 mRNA. Translation: AAP35367.1 .
    BC013289 mRNA. Translation: AAH13289.1 .
    BC005302 mRNA. Translation: AAH05302.1 .
    CCDSi CCDS8385.1. [P54710-2 ]
    CCDS8386.1. [P54710-1 ]
    PIRi S54159.
    RefSeqi NP_001671.2. NM_001680.4. [P54710-1 ]
    NP_067614.1. NM_021603.3. [P54710-2 ]
    UniGenei Hs.731865.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2MKV NMR - A 9-66 [» ]
    ProteinModelPortali P54710.
    SMRi P54710. Positions 19-47.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000314528.

    Chemistry

    BindingDBi P54710.
    ChEMBLi CHEMBL2095186.
    DrugBanki DB00606. Cyclothiazide.

    Protein family/group databases

    TCDBi 1.A.27.2.1. the phospholemman (plm) family.

    Polymorphism databases

    DMDMi 20141251.

    Proteomic databases

    MaxQBi P54710.
    PaxDbi P54710.
    PRIDEi P54710.

    Protocols and materials databases

    DNASUi 486.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000260287 ; ENSP00000260287 ; ENSG00000137731 . [P54710-2 ]
    ENST00000292079 ; ENSP00000292079 ; ENSG00000137731 . [P54710-1 ]
    ENST00000528014 ; ENSP00000432430 ; ENSG00000137731 . [P54710-2 ]
    ENST00000532119 ; ENSP00000436414 ; ENSG00000137731 . [P54710-2 ]
    GeneIDi 486.
    KEGGi hsa:486.
    UCSCi uc001prj.2. human. [P54710-1 ]
    uc001prk.1. human. [P54710-2 ]

    Organism-specific databases

    CTDi 486.
    GeneCardsi GC11M117673.
    HGNCi HGNC:4026. FXYD2.
    HPAi CAB004649.
    MIMi 154020. phenotype.
    601814. gene.
    neXtProti NX_P54710.
    Orphaneti 34528. Autosomal dominant primary hypomagnesemia with hypocalciuria.
    PharmGKBi PA28442.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG245297.
    HOGENOMi HOG000234468.
    HOVERGENi HBG100880.
    KOi K01538.
    OMAi DRWYLGG.
    OrthoDBi EOG786H66.
    PhylomeDBi P54710.
    TreeFami TF333443.

    Enzyme and pathway databases

    Reactomei REACT_25149. Ion transport by P-type ATPases.

    Miscellaneous databases

    ChiTaRSi FXYD2. human.
    GeneWikii FXYD2.
    GenomeRNAii 486.
    NextBioi 2017.
    PROi P54710.
    SOURCEi Search...

    Gene expression databases

    Bgeei P54710.
    CleanExi HS_FXYD2.
    Genevestigatori P54710.

    Family and domain databases

    InterProi IPR000272. Ion-transport_regulator_FXYD.
    [Graphical view ]
    Pfami PF02038. ATP1G1_PLM_MAT8. 1 hit.
    [Graphical view ]
    ProDomi PD005989. PD005989. 1 hit.
    [Graphical view ] [Entries sharing at least one domain ]
    PROSITEi PS01310. FXYD. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and expression of human cDNA encoding Na+, K(+)-ATPase gamma-subunit."
      Kim J.W., Lee Y., Lee I.A., Kang H.B., Choe Y.K., Choe I.S.
      Biochim. Biophys. Acta 1350:133-135(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Liver.
    2. "Genomic organization of the human FXYD2 gene encoding the gamma subunit of the Na,K-ATPase."
      Sweadner K.J., Wetzel R.K., Arystarkhova E.
      Biochem. Biophys. Res. Commun. 279:196-201(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE (ISOFORMS 1 AND 2).
    3. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2), VARIANT HOMG2 ARG-41.
    4. "Characterization of the human cDNA with partial homology with the gamma subunit of sodium potassium ATPase of rat, mouse, rabbit and sheep."
      Austruy E., Belley L., Millasot P., Junien C., Jeanpierre C.
      Submitted (APR-1995) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Kidney.
    5. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    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] (ISOFORMS 1 AND 2).
      Tissue: Bone marrow and Kidney.
    7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiATNG_HUMAN
    AccessioniPrimary (citable) accession number: P54710
    Secondary accession number(s): Q15332
    , Q53YC1, Q9GZP3, Q9GZQ7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1996
    Last sequence update: January 23, 2002
    Last modified: October 1, 2014
    This is version 129 of the entry and version 3 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, Reference proteome

    Documents

    1. Human chromosome 11
      Human chromosome 11: 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