FXYD1 (FXYD domain containing ion transport regulator 1)

2014-11-01  

Identity

HGNC
FXYD1
LOCATION
19q13.12
LOCUSID
5348
ALIAS
PLM

Other Information

Locus ID:

NCBI: 5348
MIM: 602359
HGNC: 4025
Ensembl: ENSG00000266964

Variants:

dbSNP: 5348
ClinVar: 5348
TCGA: ENSG00000266964
COSMIC: FXYD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000266964ENST00000351325O00168
ENSG00000266964ENST00000455515O00168
ENSG00000266964ENST00000588081O00168
ENSG00000266964ENST00000588607O00168
ENSG00000266964ENST00000588715O00168
ENSG00000266964ENST00000589121K7EQG4
ENSG00000266964ENST00000589209O00168
ENSG00000266964ENST00000612146O00168

Expression (GTEx)

0
100
200
300
400
500
600
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
cAMP signaling pathwayKEGGhsa04024
cAMP signaling pathwayKEGGko04024
Muscle contractionREACTOMER-HSA-397014
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Ion transport by P-type ATPasesREACTOMER-HSA-936837
Cardiac conductionREACTOMER-HSA-5576891
Ion homeostasisREACTOMER-HSA-5578775

References

Pubmed IDYearTitleCitations
173098812007FXYD1 is an MeCP2 target gene overexpressed in the brains of Rett syndrome patients and Mecp2-null mice.65
196383482009Isoform specificity of the Na/K-ATPase association and regulation by phospholemman.31
180522102007Purification of the human alpha2 Isoform of Na,K-ATPase expressed in Pichia pastoris. Stabilization by lipids and FXYD1.23
236728252013Novel regulation of cardiac Na pump via phospholemman.19
203713142010Phospholemman modulates the gating of cardiac L-type calcium channels.18
218494072011Phospholemman-dependent regulation of the cardiac Na/K-ATPase activity is modulated by inhibitor-1 sensitive type-1 phosphatase.18
212204222011Phosphomimetic mutations enhance oligomerization of phospholemman and modulate its interaction with the Na/K-ATPase.17
169211692006Cytoplasmic tail of phospholemman interacts with the intracellular loop of the cardiac Na+/Ca2+ exchanger.15
162889232005Correlation of gene and protein structures in the FXYD family proteins.12
180007452007Structures of the FXYD regulatory proteins in lipid micelles and membranes.12

Citation

Dessen P

FXYD1 (FXYD domain containing ion transport regulator 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63633/fxyd1