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Protein

FXYD domain-containing ion transport regulator 3

Gene

FXYD3

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

Functioni

Associates with and regulates the activity of the sodium/potassium-transporting ATPase (NKA) which transports Na+ out of the cell and K+ into the cell (PubMed:17077088). Reduces glutathionylation of the NKA beta-1 subunit ATP1B1, thus reversing glutathionylation-mediated inhibition of ATP1B1 (PubMed:21454534). Induces a hyperpolarization-activated chloride current when expressed in Xenopus oocytes (PubMed:7836447).3 Publications
Isoform 1: Decreases the apparent K+ and Na+ affinity of the sodium/potassium-transporting ATPase over a large range of membrane potentials.1 Publication
Isoform 2: Decreases the apparent K+ affinity of the sodium/potassium-transporting ATPase only at slightly negative and positive membrane potentials and increases the apparent Na+ affinity over a large range of membrane potentials.1 Publication

Miscellaneous

Marker of a cell type preferentially transformed by neu or ras oncoprotein.

GO - Molecular functioni

  • chloride channel activity Source: ProtInc
  • sodium channel regulator activity Source: GO_Central

GO - Biological processi

Keywordsi

Biological processIon transport, Potassium transport, Sodium transport, Sodium/potassium transport, Transport
LigandPotassium, Sodium

Enzyme and pathway databases

ReactomeiR-HSA-5578775. Ion homeostasis.
R-HSA-936837. Ion transport by P-type ATPases.

Protein family/group databases

TCDBi1.A.27.1.5. the phospholemman (plm) family.

Names & Taxonomyi

Protein namesi
Recommended name:
FXYD domain-containing ion transport regulator 3
Alternative name(s):
Chloride conductance inducer protein Mat-8
Mammary tumor 8 kDa protein
Phospholemman-like
Sodium/potassium-transporting ATPase subunit FXYD3Curated
Gene namesi
Name:FXYD3
Synonyms:MAT8, PLML
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000089356.16.
HGNCiHGNC:4027. FXYD3.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini21 – 38ExtracellularSequence analysisAdd BLAST18
Transmembranei39 – 59HelicalSequence analysisAdd BLAST21
Topological domaini60 – 87CytoplasmicSequence analysisAdd BLAST28

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi44C → S: Abolishes glutathionylation but does not affect interaction with ATP1B1; when associated with S-49; S-61 and S-63. 1 Publication1
Mutagenesisi49C → S: Abolishes glutathionylation but does not affect interaction with ATP1B1; when associated with S-43; S-61 and S-63. 1 Publication1
Mutagenesisi61C → S: Abolishes glutathionylation but does not affect interaction with ATP1B1; when associated with S-43; S-49 and S-63. 1 Publication1
Mutagenesisi63C → S: Abolishes glutathionylation but does not affect interaction with ATP1B1; when associated with S-43; S-49 and S-61. 1 Publication1

Organism-specific databases

DisGeNETi5349.
OpenTargetsiENSG00000089356.
PharmGKBiPA28443.

Polymorphism and mutation databases

BioMutaiFXYD3.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 201 PublicationAdd BLAST20
ChainiPRO_000001036221 – 87FXYD domain-containing ion transport regulator 3Add BLAST67

Post-translational modificationi

Glutathionylated.1 Publication

Keywords - PTMi

Glutathionylation

Proteomic databases

MaxQBiQ14802.
PaxDbiQ14802.
PeptideAtlasiQ14802.
PRIDEiQ14802.

PTM databases

iPTMnetiQ14802.
PhosphoSitePlusiQ14802.

Expressioni

Tissue specificityi

Isoform 1: Expressed mainly in differentiated cells (at protein level). Isoform 2: Expressed mainly in undifferentiated cells (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000089356.
CleanExiHS_FXYD3.
ExpressionAtlasiQ14802. baseline and differential.
GenevisibleiQ14802. HS.

Organism-specific databases

HPAiHPA010856.

Interactioni

Subunit structurei

Regulatory subunit of the sodium/potassium-transporting ATPase which is composed of a catalytic alpha subunit, a non-catalytic beta subunit and an additional regulatory subunit (PubMed:17077088). Interacts with catalytic alpha subunit ATP1A1 (PubMed:21454534). Also interacts with non-catalytic beta subunit ATP1B1 (By similarity). Interacts with the ATP1A1-ATP1B1, ATP1A2-ATP1B1 and ATP1A3-ATP1B1 NKA isozymes (PubMed:17077088).By similarity2 Publications

Protein-protein interaction databases

BioGridi111364. 7 interactors.
IntActiQ14802. 11 interactors.
MINTiMINT-5004597.
STRINGi9606.ENSP00000389770.

Structurei

3D structure databases

ProteinModelPortaliQ14802.
SMRiQ14802.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the FXYD family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410J4PQ. Eukaryota.
ENOG4111AWX. LUCA.
GeneTreeiENSGT00530000063998.
HOGENOMiHOG000234469.
HOVERGENiHBG008212.
InParanoidiQ14802.
KOiK13361.
OMAiKPSHRPG.
OrthoDBiEOG091G14HJ.
PhylomeDBiQ14802.
TreeFamiTF333443.

Family and domain databases

InterProiView protein in InterPro
IPR000272. Ion-transport_regulator_FXYD.
PfamiView protein in Pfam
PF02038. ATP1G1_PLM_MAT8. 1 hit.
ProDomiView protein in ProDom or Entries sharing at least one domain
PD005989. PD005989. 1 hit.
PROSITEiView protein in PROSITE
PS01310. FXYD. 1 hit.

Sequences (5)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q14802-1) [UniParc]FASTAAdd to basket
Also known as: FXYD3-sf1 Publication

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
MQKVTLGLLV FLAGFPVLDA NDLEDKNSPF YYDWHSLQVG GLICAGVLCA
60 70 80
MGIIIVMSAK CKCKFGQKSG HHPGETPPLI TPGSAQS
Length:87
Mass (Da):9,263
Last modified:November 1, 1996 - v1
Checksum:i6D674D668EB32493
GO
Isoform 2 (identifier: Q14802-2) [UniParc]FASTAAdd to basket
Also known as: FXYD3-lf1 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     58-58: S → SEWRSSGEQAGRGWGSPPLTTQLSPTG

Show »
Length:113
Mass (Da):11,988
Checksum:i76E2065D324DD3FB
GO
Isoform 3 (identifier: Q14802-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MGRGYSGALQARGGLEEPLERGLRGPSFTQSPLHGAAAAYLSAQRDASLPVPGQRSDM

Note: No experimental confirmation available.
Show »
Length:144
Mass (Da):15,154
Checksum:i7046A16E5C9011DE
GO
Isoform 4 (identifier: Q14802-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     58-58: S → SEWRSSGEQAGRGWGSPPLTTQLSPTG
     71-87: Missing.

Note: No experimental confirmation available. Gene prediction based on EST data.
Show »
Length:96
Mass (Da):10,280
Checksum:iC6D6FB0FB15FC085
GO
Isoform 5 (identifier: Q14802-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     33-87: DWHSLQVGGL...PLITPGSAQS → GESPCPLSPPHNPTYCLVPRVPIQGWGLT

Note: No experimental confirmation available. Gene prediction based on EST data.
Show »
Length:61
Mass (Da):6,718
Checksum:i22954B2FECB88A28
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti36 – 37Missing in AAA73922 (Ref. 2) Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04910940G → S. Corresponds to variant dbSNP:rs35578165Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0457161M → MGRGYSGALQARGGLEEPLE RGLRGPSFTQSPLHGAAAAY LSAQRDASLPVPGQRSDM in isoform 3. 1 Publication1
Alternative sequenceiVSP_04728633 – 87DWHSL…GSAQS → GESPCPLSPPHNPTYCLVPR VPIQGWGLT in isoform 5. CuratedAdd BLAST55
Alternative sequenceiVSP_03459858S → SEWRSSGEQAGRGWGSPPLT TQLSPTG in isoform 2 and isoform 4. 1 Publication1
Alternative sequenceiVSP_04728771 – 87Missing in isoform 4. CuratedAdd BLAST17

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X93036 mRNA. Translation: CAA63604.1.
U28249 mRNA. Translation: AAA73922.1.
BT006712 mRNA. Translation: AAP35358.1.
CR456945 mRNA. Translation: CAG33226.1.
CR542197 mRNA. Translation: CAG46994.1.
AC020907 Genomic DNA. No translation available.
BC005238 mRNA. Translation: AAH05238.1.
BC090044 mRNA. Translation: AAH90044.1.
BU157560 mRNA. No translation available.
CCDSiCCDS12442.1. [Q14802-1]
CCDS12443.1. [Q14802-2]
CCDS46048.1. [Q14802-3]
CCDS46049.1. [Q14802-4]
CCDS46050.1. [Q14802-5]
PIRiA55571.
RefSeqiNP_001129479.1. NM_001136007.1. [Q14802-3]
NP_001129480.1. NM_001136008.1. [Q14802-4]
NP_001129481.1. NM_001136009.1. [Q14802-5]
NP_001129482.1. NM_001136010.1. [Q14802-5]
NP_001129483.1. NM_001136011.1. [Q14802-1]
NP_001129484.1. NM_001136012.1. [Q14802-2]
NP_005962.1. NM_005971.3. [Q14802-1]
NP_068710.1. NM_021910.2. [Q14802-2]
XP_005259053.1. XM_005258996.4. [Q14802-2]
XP_016882366.1. XM_017026877.1. [Q14802-1]
XP_016882367.1. XM_017026878.1. [Q14802-1]
UniGeneiHs.301350.

Genome annotation databases

EnsembliENST00000344013; ENSP00000339499; ENSG00000089356. [Q14802-2]
ENST00000346446; ENSP00000328259; ENSG00000089356. [Q14802-2]
ENST00000435734; ENSP00000389770; ENSG00000089356. [Q14802-2]
ENST00000603181; ENSP00000474851; ENSG00000089356. [Q14802-1]
ENST00000603449; ENSP00000474055; ENSG00000089356. [Q14802-5]
ENST00000604255; ENSP00000473929; ENSG00000089356. [Q14802-3]
ENST00000604404; ENSP00000474438; ENSG00000089356. [Q14802-1]
ENST00000604621; ENSP00000474526; ENSG00000089356. [Q14802-1]
ENST00000605552; ENSP00000474855; ENSG00000089356. [Q14802-5]
ENST00000605677; ENSP00000474622; ENSG00000089356. [Q14802-4]
GeneIDi5349.
KEGGihsa:5349.
UCSCiuc002nxv.4. human. [Q14802-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiFXYD3_HUMAN
AccessioniPrimary (citable) accession number: Q14802
Secondary accession number(s): A6NDE0
, C9JDU2, F5H174, F8WB34, Q13211, Q6IB59
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: November 1, 1996
Last modified: October 25, 2017
This is version 154 of the entry and version 1 of the sequence. See 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

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: 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. SIMILARITY comments
    Index of protein domains and families