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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 transcript leveli

Functioni

Induces a hyperpolarization-activated chloride current when expressed in Xenopus oocytes. May be a modulator capable of activating endogenous oocyte channels.

GO - Molecular functioni

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

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Chloride channel, Ion channel

Keywords - Biological processi

Ion transport, Transport

Keywords - Ligandi

Chloride

Enzyme and pathway databases

BioCyciZFISH:ENSG00000089356-MONOMER.
ReactomeiR-HSA-5578775. Ion homeostasis.
R-HSA-936837. Ion transport by P-type ATPases.

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
Gene namesi
Name:FXYD3
Synonyms:MAT8, PLML
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:4027. FXYD3.

Subcellular locationi

Topology

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

GO - Cellular componenti

  • chloride channel complex Source: UniProtKB-KW
  • endoplasmic reticulum membrane Source: Ensembl
  • extracellular exosome Source: UniProtKB
  • integral component of plasma membrane Source: ProtInc
  • plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi5349.
OpenTargetsiENSG00000089356.
PharmGKBiPA28443.

Polymorphism and mutation databases

BioMutaiFXYD3.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 20Sequence analysisAdd BLAST20
ChainiPRO_000001036221 – 87FXYD domain-containing ion transport regulator 3Add BLAST67

Proteomic databases

MaxQBiQ14802.
PaxDbiQ14802.
PeptideAtlasiQ14802.
PRIDEiQ14802.

PTM databases

iPTMnetiQ14802.
PhosphoSitePlusiQ14802.

Expressioni

Tissue specificityi

Expressed in a subset of human breast tumors.

Gene expression databases

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

Organism-specific databases

HPAiHPA010856.

Interactioni

Protein-protein interaction databases

BioGridi111364. 7 interactors.
IntActiQ14802. 8 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

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 (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

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

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 rs35578165dbSNPEnsembl.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

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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.

3D structure databases

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

Protein-protein interaction databases

BioGridi111364. 7 interactors.
IntActiQ14802. 8 interactors.
MINTiMINT-5004597.
STRINGi9606.ENSP00000389770.

PTM databases

iPTMnetiQ14802.
PhosphoSitePlusiQ14802.

Polymorphism and mutation databases

BioMutaiFXYD3.

Proteomic databases

MaxQBiQ14802.
PaxDbiQ14802.
PeptideAtlasiQ14802.
PRIDEiQ14802.

Protocols and materials databases

DNASUi5349.
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi5349.
DisGeNETi5349.
GeneCardsiFXYD3.
HGNCiHGNC:4027. FXYD3.
HPAiHPA010856.
MIMi604996. gene.
neXtProtiNX_Q14802.
OpenTargetsiENSG00000089356.
PharmGKBiPA28443.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000089356-MONOMER.
ReactomeiR-HSA-5578775. Ion homeostasis.
R-HSA-936837. Ion transport by P-type ATPases.

Miscellaneous databases

ChiTaRSiFXYD3. human.
GeneWikiiFXYD3.
GenomeRNAii5349.
PROiQ14802.
SOURCEiSearch...

Gene expression databases

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

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...

Entry informationi

Entry nameiFXYD3_HUMAN
AccessioniPrimary (citable) accession number: Q14802
Secondary accession number(s): A6NDE0
, C9JDU2, F5H174, F8WB34, Q13211, Q6IB59
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: November 1, 1996
Last modified: November 30, 2016
This is version 149 of the entry and version 1 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

Miscellaneous

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

Keywords - Technical termi

Complete proteome, 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

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 one 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.