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Protein

Sodium/potassium-transporting ATPase subunit gamma

Gene

FXYD2

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

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. transmembrane transport Source: Reactome
  5. transport Source: ProtInc
Complete GO annotation...

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 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:4026. FXYD2.

Subcellular locationi

Topology

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

GO - Cellular componenti

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

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Hypomagnesemia 2 (HOMG2)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

See also OMIM:154020
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 – 234Combined sources
Helixi26 – 5126Combined sources
Beta strandi52 – 554Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2MKVNMR-A9-66[»]
ProteinModelPortaliP54710.
SMRiP54710. Positions 9-66.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the FXYD family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG245297.
GeneTreeiENSGT00530000064417.
HOGENOMiHOG000234468.
HOVERGENiHBG100880.
InParanoidiP54710.
KOiK01538.
OMAiPFYYDYE.
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. AlignAdd to basket

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

        10         20         30         40         50
MTGLSMDGGG SPKGDVDPFY YDYETVRNGG LIFAGLAFIV GLLILLSRRF
60
RCGGNKKRRQ INEDEP
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. Curated

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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2MKVNMR-A9-66[»]
ProteinModelPortaliP54710.
SMRiP54710. Positions 9-66.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000314528.

Chemistry

ChEMBLiCHEMBL2095186.
DrugBankiDB00606. Cyclothiazide.

Protein family/group databases

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

Polymorphism databases

DMDMi20141251.

Proteomic databases

MaxQBiP54710.
PaxDbiP54710.
PRIDEiP54710.

Protocols and materials databases

DNASUi486.
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi486.
GeneCardsiGC11M117673.
HGNCiHGNC:4026. FXYD2.
HPAiCAB004649.
MIMi154020. phenotype.
601814. gene.
neXtProtiNX_P54710.
Orphaneti34528. Autosomal dominant primary hypomagnesemia with hypocalciuria.
PharmGKBiPA28442.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG245297.
GeneTreeiENSGT00530000064417.
HOGENOMiHOG000234468.
HOVERGENiHBG100880.
InParanoidiP54710.
KOiK01538.
OMAiPFYYDYE.
OrthoDBiEOG786H66.
PhylomeDBiP54710.
TreeFamiTF333443.

Enzyme and pathway databases

ReactomeiREACT_25149. Ion transport by P-type ATPases.

Miscellaneous databases

ChiTaRSiFXYD2. human.
GeneWikiiFXYD2.
GenomeRNAii486.
NextBioi2017.
PROiP54710.
SOURCEiSearch...

Gene expression databases

BgeeiP54710.
CleanExiHS_FXYD2.
GenevestigatoriP54710.

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]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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(1996) [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(1999) [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 (MAR-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 (APR-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(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Bone marrow and Kidney.

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: March 4, 2015
This is version 133 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.