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P54710 (ATNG_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 127. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:FXYD2
Synonyms:ATP1C, ATP1G1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length66 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subunit structure

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

Subcellular location

Membrane; Single-pass type III membrane protein Potential.

Tissue specificity

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

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.3

Sequence similarities

Belongs to the FXYD family.

Sequence caution

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

The sequence CAA60152.1 differs from that shown. Reason: Erroneous translation. Wrong choice of frame.

Ontologies

Keywords
   Biological processIon transport
Potassium transport
Sodium transport
Sodium/potassium transport
Transport
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
   DiseaseDisease mutation
Primary hypomagnesemia
   DomainTransmembrane
Transmembrane helix
   LigandPotassium
Sodium
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_procession transmembrane transport

Traceable author statement. Source: Reactome

regulation of cell growth

Inferred from electronic annotation. Source: Ensembl

regulation of cell proliferation

Inferred from electronic annotation. Source: Ensembl

sodium ion transmembrane transport

Traceable author statement Ref.1. Source: GOC

transmembrane transport

Traceable author statement. Source: Reactome

transport

Traceable author statement Ref.1. Source: ProtInc

   Cellular_componentbasolateral plasma membrane

Inferred from electronic annotation. Source: Ensembl

extracellular vesicular exosome

Inferred from direct assay PubMed 19056867PubMed 23376485. Source: UniProt

intracellular membrane-bounded organelle

Inferred from electronic annotation. Source: Ensembl

plasma membrane

Traceable author statement. Source: Reactome

sodium:potassium-exchanging ATPase complex

Traceable author statement Ref.1. Source: ProtInc

   Molecular_functionion channel activity

Inferred from electronic annotation. Source: InterPro

sodium:potassium-exchanging ATPase activity

Traceable author statement Ref.1. Source: ProtInc

transporter activity

Traceable author statement Ref.1. Source: ProtInc

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P54710-1)

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.
Isoform 2 (identifier: P54710-2)

Also known as: B;

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 6666Sodium/potassium-transporting ATPase subunit gamma
PRO_0000148185

Regions

Transmembrane29 – 4618Helical; Potential

Natural variations

Alternative sequence1 – 88MTGLSMDG → MDRWYL in isoform 2.
VSP_001580
Natural variant411G → R in HOMG2; fails to localize to plasma membrane. Ref.3
Corresponds to variant rs28938168 [ dbSNP | Ensembl ].
VAR_013280

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (A) [UniParc].

Last modified January 23, 2002. Version 3.
Checksum: D00F21B5C01ACE75

FASTA667,283
        10         20         30         40         50         60 
MTGLSMDGGG SPKGDVDPFY YDYETVRNGG LIFAGLAFIV GLLILLSRRF RCGGNKKRRQ 


INEDEP 

« Hide

Isoform 2 (B) [UniParc].

Checksum: BB644F4CF05C2170
Show »

FASTA647,355

References

« Hide 'large scale' references
[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]"Dominant isolated renal magnesium loss is caused by misrouting of the Na+,K+-ATPase gamma-subunit."
Meij I.C., Koenderink J.B., van Bokhoven H., Assink K.F.H., Groenestege W.T., de Pont J.J.H.H.M., Bindels R.J.M., Monnens L.A.H., van den Heuvel L.P.W.J., Knoers N.V.A.M.
Nat. Genet. 26:265-266(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2), VARIANT HOMG2 ARG-41.
[4]Erratum
Meij I.C., Koenderink J.B., van Bokhoven H., Assink K.F.H., Groenestege W.T., de Pont J.J.H.H.M., Bindels R.J.M., Monnens L.A.H., van den Heuvel L.P.W.J., Knoers N.V.A.M.
Nat. Genet. 27:125-125(2001)
[5]"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.
[6]"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).
[7]"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.
[8]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS8385.1. [P54710-2]
CCDS8386.1. [P54710-1]
PIRS54159.
RefSeqNP_001671.2. NM_001680.4. [P54710-1]
NP_067614.1. NM_021603.3. [P54710-2]
UniGeneHs.731865.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2MKVNMR-A9-66[»]
ProteinModelPortalP54710.
SMRP54710. Positions 19-47.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000314528.

Chemistry

BindingDBP54710.
ChEMBLCHEMBL2095186.
DrugBankDB00606. Cyclothiazide.

Protein family/group databases

TCDB1.A.27.2.1. the phospholemman (plm) family.

Polymorphism databases

DMDM20141251.

Proteomic databases

MaxQBP54710.
PaxDbP54710.
PRIDEP54710.

Protocols and materials databases

DNASU486.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000260287; ENSP00000260287; ENSG00000137731. [P54710-2]
ENST00000292079; ENSP00000292079; ENSG00000137731. [P54710-1]
ENST00000528014; ENSP00000432430; ENSG00000137731. [P54710-2]
ENST00000532119; ENSP00000436414; ENSG00000137731. [P54710-2]
GeneID486.
KEGGhsa:486.
UCSCuc001prj.2. human. [P54710-1]
uc001prk.1. human. [P54710-2]

Organism-specific databases

CTD486.
GeneCardsGC11M117673.
HGNCHGNC:4026. FXYD2.
HPACAB004649.
MIM154020. phenotype.
601814. gene.
neXtProtNX_P54710.
Orphanet34528. Autosomal dominant primary hypomagnesemia with hypocalciuria.
PharmGKBPA28442.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG245297.
HOGENOMHOG000234468.
HOVERGENHBG100880.
KOK01538.
OMADRWYLGG.
OrthoDBEOG786H66.
PhylomeDBP54710.
TreeFamTF333443.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

BgeeP54710.
CleanExHS_FXYD2.
GenevestigatorP54710.

Family and domain databases

InterProIPR000272. Ion-transport_regulator_FXYD.
[Graphical view]
PfamPF02038. ATP1G1_PLM_MAT8. 1 hit.
[Graphical view]
ProDomPD005989. PD005989. 1 hit.
[Graphical view] [Entries sharing at least one domain]
PROSITEPS01310. FXYD. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSFXYD2. human.
GeneWikiFXYD2.
GenomeRNAi486.
NextBio2017.
PROP54710.
SOURCESearch...

Entry information

Entry nameATNG_HUMAN
AccessionPrimary (citable) accession number: P54710
Secondary accession number(s): Q15332 expand/collapse secondary AC list , Q53YC1, Q9GZP3, Q9GZQ7
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: January 23, 2002
Last modified: July 9, 2014
This is version 127 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM