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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

ReactomeiREACT_25149. 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
ProteomesiUP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:4030. FXYD6.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini19 – 3517ExtracellularSequence AnalysisAdd
BLAST
Transmembranei36 – 5823HelicalSequence AnalysisAdd
BLAST
Topological domaini59 – 9537CytoplasmicSequence AnalysisAdd
BLAST

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

MIMi181500. phenotype.
603342. phenotype.
Orphaneti3140. Schizophrenia.
PharmGKBiPA28446.

Polymorphism and mutation databases

BioMutaiFXYD6.
DMDMi20138342.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1818Sequence AnalysisAdd
BLAST
Chaini19 – 9577FXYD domain-containing ion transport regulator 6PRO_0000010372Add
BLAST

Proteomic databases

MaxQBiQ9H0Q3.
PaxDbiQ9H0Q3.
PRIDEiQ9H0Q3.

PTM databases

PhosphoSiteiQ9H0Q3.

Expressioni

Gene expression databases

BgeeiQ9H0Q3.
CleanExiHS_FXYD6.
ExpressionAtlasiQ9H0Q3. baseline and differential.
GenevisibleiQ9H0Q3. HS.

Organism-specific databases

HPAiHPA041334.
HPA042284.

Interactioni

Binary interactionsi

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

Protein-protein interaction databases

BioGridi119799. 14 interactions.
IntActiQ9H0Q3. 17 interactions.
MINTiMINT-1372177.
STRINGi9606.ENSP00000260282.

Structurei

3D structure databases

ProteinModelPortaliQ9H0Q3.
SMRiQ9H0Q3. Positions 28-58.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the FXYD family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG40995.
GeneTreeiENSGT00530000063932.
HOGENOMiHOG000234467.
HOVERGENiHBG008212.
InParanoidiQ9H0Q3.
KOiK13363.
OrthoDBiEOG72NRRZ.
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 AAQ89335.1 differs from that shown. Reason: Frameshift at position 93. Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei58 – 9538SRRCK…QKAEN → RPQEMRKPRWRTSSPPMQQS PRKQRTEVQPSGGRRQPQGG RGPVLLWQKIPLWGQ in isoform 2. 1 PublicationVSP_045996Add
BLAST

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.
ENST00000524656; ENSP00000431427; ENSG00000137726.
ENST00000526014; ENSP00000433312; ENSG00000137726.
ENST00000527717; ENSP00000431446; ENSG00000137726.
ENST00000530956; ENSP00000463158; ENSG00000137726.
ENST00000539526; ENSP00000442756; ENSG00000137726.
ENST00000540359; ENSP00000444243; ENSG00000137726.
GeneIDi53826.
KEGGihsa:53826.
UCSCiuc001pro.2. human. [Q9H0Q3-1]
uc021qqz.1. human.

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. Positions 28-58.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119799. 14 interactions.
IntActiQ9H0Q3. 17 interactions.
MINTiMINT-1372177.
STRINGi9606.ENSP00000260282.

Protein family/group databases

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

PTM databases

PhosphoSiteiQ9H0Q3.

Polymorphism and mutation databases

BioMutaiFXYD6.
DMDMi20138342.

Proteomic databases

MaxQBiQ9H0Q3.
PaxDbiQ9H0Q3.
PRIDEiQ9H0Q3.

Protocols and materials databases

DNASUi53826.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000260282; ENSP00000260282; ENSG00000137726.
ENST00000524656; ENSP00000431427; ENSG00000137726.
ENST00000526014; ENSP00000433312; ENSG00000137726.
ENST00000527717; ENSP00000431446; ENSG00000137726.
ENST00000530956; ENSP00000463158; ENSG00000137726.
ENST00000539526; ENSP00000442756; ENSG00000137726.
ENST00000540359; ENSP00000444243; ENSG00000137726.
GeneIDi53826.
KEGGihsa:53826.
UCSCiuc001pro.2. human. [Q9H0Q3-1]
uc021qqz.1. human.

Organism-specific databases

CTDi53826.
GeneCardsiGC11M117741.
HGNCiHGNC:4030. FXYD6.
HPAiHPA041334.
HPA042284.
MIMi181500. phenotype.
603342. phenotype.
606683. gene.
neXtProtiNX_Q9H0Q3.
Orphaneti3140. Schizophrenia.
PharmGKBiPA28446.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG40995.
GeneTreeiENSGT00530000063932.
HOGENOMiHOG000234467.
HOVERGENiHBG008212.
InParanoidiQ9H0Q3.
KOiK13363.
OrthoDBiEOG72NRRZ.
PhylomeDBiQ9H0Q3.
TreeFamiTF333443.

Enzyme and pathway databases

ReactomeiREACT_25149. Ion transport by P-type ATPases.

Miscellaneous databases

NextBioi35536565.
PROiQ9H0Q3.
SOURCEiSearch...

Gene expression databases

BgeeiQ9H0Q3.
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...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  3. "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 1).
  4. "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation."
    Brandenberger R., Wei H., Zhang S., Lei S., Murage J., Fisk G.J., Li Y., Xu C., Fang R., Guegler K., Rao M.S., Mandalam R., Lebkowski J., Stanton L.W.
    Nat. Biotechnol. 22:707-716(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Embryonic stem cell.
  5. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  6. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Amygdala.
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Lymph node.
  8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  9. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  10. "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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Lung and Uterus.
  11. "A genetic association study of chromosome 11q22-24 in two different samples implicates the FXYD6 gene, encoding phosphohippolin, in susceptibility to schizophrenia."
    Choudhury K., McQuillin A., Puri V., Pimm J., Datta S., Thirumalai S., Krasucki R., Lawrence J., Bass N.J., Quested D., Crombie C., Fraser G., Walker N., Nadeem H., Johnson S., Curtis D., St Clair D., Gurling H.M.D.
    Am. J. Hum. Genet. 80:664-672(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN SCZD2.

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: July 22, 2015
This is version 128 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

External Data

Dasty 3

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 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.