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Protein

FXYD domain-containing ion transport regulator 6

Gene

FXYD6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Ion channel

Keywords - Biological processi

Ion transport, Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000137726-MONOMER.
ReactomeiR-HSA-5578775. Ion homeostasis.
R-HSA-936837. Ion transport by P-type ATPases.

Protein family/group databases

TCDBi1.A.27.1.3. the phospholemman (plm) family.

Names & Taxonomyi

Protein namesi
Recommended name:
FXYD domain-containing ion transport regulator 6
Alternative name(s):
Phosphohippolin
Gene namesi
Name:FXYD6
ORF Names:UNQ521/PRO1056
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:4030. FXYD6.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini19 – 35ExtracellularSequence analysisAdd BLAST17
Transmembranei36 – 58HelicalSequence analysisAdd BLAST23
Topological domaini59 – 95CytoplasmicSequence analysisAdd BLAST37

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Schizophrenia 2 (SCZD2)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder.
See also OMIM:603342

Keywords - Diseasei

Schizophrenia

Organism-specific databases

DisGeNETi53826.
MIMi181500. phenotype.
603342. phenotype.
OpenTargetsiENSG00000137726.
ENSG00000255245.
Orphaneti3140. Schizophrenia.
PharmGKBiPA28446.

Polymorphism and mutation databases

BioMutaiFXYD6.
DMDMi20138342.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 18By similarityAdd BLAST18
ChainiPRO_000001037219 – 95FXYD domain-containing ion transport regulator 6Add BLAST77

Proteomic databases

EPDiQ9H0Q3.
MaxQBiQ9H0Q3.
PaxDbiQ9H0Q3.
PeptideAtlasiQ9H0Q3.
PRIDEiQ9H0Q3.

PTM databases

iPTMnetiQ9H0Q3.
PhosphoSitePlusiQ9H0Q3.

Expressioni

Gene expression databases

BgeeiENSG00000137726.
CleanExiHS_FXYD6.
ExpressionAtlasiQ9H0Q3. baseline and differential.
GenevisibleiQ9H0Q3. HS.

Organism-specific databases

HPAiHPA041334.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
CREB3L1Q96BA83EBI-713304,EBI-6942903

Protein-protein interaction databases

BioGridi119799. 16 interactors.
IntActiQ9H0Q3. 19 interactors.
MINTiMINT-1372177.
STRINGi9606.ENSP00000260282.

Structurei

3D structure databases

ProteinModelPortaliQ9H0Q3.
SMRiQ9H0Q3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the FXYD family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IZ88. Eukaryota.
ENOG410YUN8. LUCA.
GeneTreeiENSGT00530000063932.
HOGENOMiHOG000234467.
HOVERGENiHBG008212.
InParanoidiQ9H0Q3.
KOiK13363.
PhylomeDBiQ9H0Q3.
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 (2)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9H0Q3-1) [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
MELVLVFLCS LLAPMVLASA AEKEKEMDPF HYDYQTLRIG GLVFAVVLFS
60 70 80 90
VGILLILSRR CKCSFNQKPR APGDEEAQVE NLITANATEP QKAEN
Length:95
Mass (Da):10,542
Last modified:March 1, 2001 - v1
Checksum:i3F083146A42422CE
GO
Isoform 2 (identifier: Q9H0Q3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     58-95: SRRCKCSFNQ...NATEPQKAEN → RPQEMRKPRW...LWQKIPLWGQ

Note: No experimental confirmation available.
Show »
Length:112
Mass (Da):12,769
Checksum:i8DA3A17AA5C551D1
GO

Sequence cautioni

The sequence AAQ89335 differs from that shown. Reason: Frameshift at position 93.Curated

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04599658 – 95SRRCK…QKAEN → RPQEMRKPRWRTSSPPMQQS PRKQRTEVQPSGGRRQPQGG RGPVLLWQKIPLWGQ in isoform 2. 1 PublicationAdd BLAST38

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136699 mRNA. Translation: CAB66634.1.
AY358976 mRNA. Translation: AAQ89335.1. Frameshift.
BT006717 mRNA. Translation: AAP35363.1.
CN310658 mRNA. No translation available.
CR533457 mRNA. Translation: CAG38488.1.
AK289629 mRNA. Translation: BAF82318.1.
AK290757 mRNA. Translation: BAF83446.1.
AL832811 mRNA. Translation: CAI46171.1.
AP000757 Genomic DNA. No translation available.
CH471065 Genomic DNA. Translation: EAW67327.1.
BC018652 mRNA. Translation: AAH18652.1.
BC093040 mRNA. Translation: AAH93040.1.
CCDSiCCDS8387.1. [Q9H0Q3-1]
RefSeqiNP_001158303.1. NM_001164831.2. [Q9H0Q3-1]
NP_001158304.1. NM_001164832.2. [Q9H0Q3-1]
NP_001158308.1. NM_001164836.2. [Q9H0Q3-1]
NP_001158309.1. NM_001164837.2. [Q9H0Q3-1]
NP_071286.1. NM_022003.3. [Q9H0Q3-1]
UniGeneiHs.744850.

Genome annotation databases

EnsembliENST00000260282; ENSP00000260282; ENSG00000137726. [Q9H0Q3-1]
ENST00000524656; ENSP00000431427; ENSG00000137726. [Q9H0Q3-1]
ENST00000526014; ENSP00000433312; ENSG00000137726. [Q9H0Q3-1]
ENST00000527717; ENSP00000431446; ENSG00000137726. [Q9H0Q3-1]
ENST00000530956; ENSP00000463158; ENSG00000137726. [Q9H0Q3-1]
ENST00000539526; ENSP00000442756; ENSG00000137726. [Q9H0Q3-1]
GeneIDi53826.
KEGGihsa:53826.
UCSCiuc001pro.3. human. [Q9H0Q3-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136699 mRNA. Translation: CAB66634.1.
AY358976 mRNA. Translation: AAQ89335.1. Frameshift.
BT006717 mRNA. Translation: AAP35363.1.
CN310658 mRNA. No translation available.
CR533457 mRNA. Translation: CAG38488.1.
AK289629 mRNA. Translation: BAF82318.1.
AK290757 mRNA. Translation: BAF83446.1.
AL832811 mRNA. Translation: CAI46171.1.
AP000757 Genomic DNA. No translation available.
CH471065 Genomic DNA. Translation: EAW67327.1.
BC018652 mRNA. Translation: AAH18652.1.
BC093040 mRNA. Translation: AAH93040.1.
CCDSiCCDS8387.1. [Q9H0Q3-1]
RefSeqiNP_001158303.1. NM_001164831.2. [Q9H0Q3-1]
NP_001158304.1. NM_001164832.2. [Q9H0Q3-1]
NP_001158308.1. NM_001164836.2. [Q9H0Q3-1]
NP_001158309.1. NM_001164837.2. [Q9H0Q3-1]
NP_071286.1. NM_022003.3. [Q9H0Q3-1]
UniGeneiHs.744850.

3D structure databases

ProteinModelPortaliQ9H0Q3.
SMRiQ9H0Q3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119799. 16 interactors.
IntActiQ9H0Q3. 19 interactors.
MINTiMINT-1372177.
STRINGi9606.ENSP00000260282.

Protein family/group databases

TCDBi1.A.27.1.3. the phospholemman (plm) family.

PTM databases

iPTMnetiQ9H0Q3.
PhosphoSitePlusiQ9H0Q3.

Polymorphism and mutation databases

BioMutaiFXYD6.
DMDMi20138342.

Proteomic databases

EPDiQ9H0Q3.
MaxQBiQ9H0Q3.
PaxDbiQ9H0Q3.
PeptideAtlasiQ9H0Q3.
PRIDEiQ9H0Q3.

Protocols and materials databases

DNASUi53826.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000260282; ENSP00000260282; ENSG00000137726. [Q9H0Q3-1]
ENST00000524656; ENSP00000431427; ENSG00000137726. [Q9H0Q3-1]
ENST00000526014; ENSP00000433312; ENSG00000137726. [Q9H0Q3-1]
ENST00000527717; ENSP00000431446; ENSG00000137726. [Q9H0Q3-1]
ENST00000530956; ENSP00000463158; ENSG00000137726. [Q9H0Q3-1]
ENST00000539526; ENSP00000442756; ENSG00000137726. [Q9H0Q3-1]
GeneIDi53826.
KEGGihsa:53826.
UCSCiuc001pro.3. human. [Q9H0Q3-1]

Organism-specific databases

CTDi53826.
DisGeNETi53826.
GeneCardsiFXYD6.
HGNCiHGNC:4030. FXYD6.
HPAiHPA041334.
MIMi181500. phenotype.
603342. phenotype.
606683. gene.
neXtProtiNX_Q9H0Q3.
OpenTargetsiENSG00000137726.
ENSG00000255245.
Orphaneti3140. Schizophrenia.
PharmGKBiPA28446.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IZ88. Eukaryota.
ENOG410YUN8. LUCA.
GeneTreeiENSGT00530000063932.
HOGENOMiHOG000234467.
HOVERGENiHBG008212.
InParanoidiQ9H0Q3.
KOiK13363.
PhylomeDBiQ9H0Q3.
TreeFamiTF333443.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000137726-MONOMER.
ReactomeiR-HSA-5578775. Ion homeostasis.
R-HSA-936837. Ion transport by P-type ATPases.

Miscellaneous databases

GenomeRNAii53826.
PROiQ9H0Q3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000137726.
CleanExiHS_FXYD6.
ExpressionAtlasiQ9H0Q3. baseline and differential.
GenevisibleiQ9H0Q3. 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 nameiFXYD6_HUMAN
AccessioniPrimary (citable) accession number: Q9H0Q3
Secondary accession number(s): A8K0R4
, J3QLD2, Q6FIG9, Q6UW52
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: March 1, 2001
Last modified: November 30, 2016
This is version 141 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. 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.