P54710 (ATNG_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	FXYD2
Synonyms:	ATP1C, ATP1G1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	66 AA.
Sequence status	Complete.
Protein existence	Evidence 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	Defects in FXYD2 are the cause of hypomagnesemia type 2 (HOMG2) [MIM:154020]; also known as dominant renal hypomagnesemia or hypomagnesemia with hypocalciuria. HOMG2 is 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. 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 process	Ion transport Potassium transport Sodium transport Sodium/potassium transport Transport
Cellular component	Membrane
Coding sequence diversity	Alternative splicing
Disease	Disease mutation Primary hypomagnesemia
Domain	Transmembrane Transmembrane helix
Ligand	Potassium Sodium
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	sodium:potassium-exchanging ATPase complex Non-traceable author statement. Source: UniProtKB
Molecular function	ion channel activity Non-traceable author statement. Source: UniProtKB sodium:potassium-exchanging ATPase activity Traceable author statement. Source: Reactome
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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 66	66	Sodium/potassium-transporting ATPase subunit gamma		PRO_0000148185
Regions
	Transmembrane	29 – 46	18	Helical; Potential
Natural variations
	Alternative sequence	1 – 8	8	MTGLSMDG → MDRWYL in isoform 2.		VSP_001580
	Natural variant	41	1	G → R in HOMG2; fails to localize to plasma membrane. Ref.3 Corresponds to variant rs28938168 [ dbSNP | Ensembl ].		VAR_013280

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (A) [UniParc]. Last modified January 23, 2002. Version 3. Checksum: D00F21B5C01ACE75	FASTA	66	7,283
	10 20 30 40 50 60 MTGLSMDGGG SPKGDVDPFY YDYETVRNGG LIFAGLAFIV GLLILLSRRF RCGGNKKRRQ INEDEP
	Isoform 2 (B) [UniParc]. Checksum: BB644F4CF05C2170	FASTA	64	7,355
	10 20 30 40 50 60 MDRWYLGGSP KGDVDPFYYD YETVRNGGLI FAGLAFIVGL LILLSRRFRC GGNKKRRQIN EDEP

References

	« Hide 'large scale' referencesShow '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: 9048881] [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: 11112438] [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: 11062458] [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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Bone marrow and Kidney.

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.
IPI	IPI00008178. IPI00219895.
PIR	S54159.
RefSeq	NP_001671.2. NM_001680.4. NP_067614.1. NM_021603.3.
UniGene	Hs.413137.
3D structure databases
ProteinModelPortal	P54710.
SMR	P54710. Positions 17-47.
ModBase	Search...
Protein-protein interaction databases
STRING	P54710.
Protein family/group databases
TCDB	1.A.27.2.1. phospholemman (PLM) family.
Polymorphism databases
DMDM	20141251.
Proteomic databases
PRIDE	P54710.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000292079; ENSP00000292079; ENSG00000137731.
GeneID	486.
KEGG	hsa:486.
UCSC	uc001prj.2. human. uc001prk.1. human.
Organism-specific databases
CTD	486.
GeneCards	GC11M117673.
HGNC	HGNC:4026. FXYD2.
HPA	CAB004649.
MIM	154020. phenotype. 601814. gene.
neXtProt	NX_P54710.
Orphanet	34528. Isolated dominant hypomagnesemia.
PharmGKB	PA28442.
GenAtlas	Search...
Phylogenomic databases
eggNOG	maNOG21430.
GeneTree	ENSGT00530000064417.
HOVERGEN	HBG100880.
OMA	PFYYDYE.
Enzyme and pathway databases
Reactome	REACT_15518. Transmembrane transport of small molecules.
Gene expression databases
ArrayExpress	P54710.
Bgee	P54710.
CleanEx	HS_FXYD2.
Genevestigator	P54710.
GermOnline	ENSG00000137731. Homo sapiens.
Family and domain databases
InterPro	IPR000272. Ion-transport_regulator_FXYD. [Graphical view]
KO	K01538.
Pfam	PF02038. ATP1G1_PLM_MAT8. 1 hit. [Graphical view]
ProDom	PD005989. PD005989. 1 hit. [Graphical view] [Entries sharing at least one domain]
PROSITE	PS01310. FXYD. 1 hit. [Graphical view]
ProtoNet	Search...
Other
DrugBank	DB00606. Cyclothiazide.
NextBio	2017.
SOURCE	Search...

Entry information

Entry name

ATNG_HUMAN

Accession

Primary (citable) accession number: P54710
Secondary accession number(s): Q15332 , Q53YC1, Q9GZP3, Q9GZQ7

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1996
Last sequence update:	January 23, 2002
Last modified:	January 25, 2012
This is version 104 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.