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Q9H0Q3

- FXYD6_HUMAN

UniProt

Q9H0Q3 - FXYD6_HUMAN

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Protein
FXYD domain-containing ion transport regulator 6
Gene
FXYD6, UNQ521/PRO1056
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at transcript leveli

Functioni

GO - Molecular functioni

  1. ion channel activity Source: InterPro

GO - Biological processi

  1. ion transmembrane transport Source: Reactome
  2. transmembrane transport Source: Reactome
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: Chromosome 11

Organism-specific databases

HGNCiHGNC:4030. FXYD6.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini19 – 3517Extracellular Reviewed prediction
Add
BLAST
Transmembranei36 – 5823Helical; Reviewed prediction
Add
BLAST
Topological domaini59 – 9537Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. plasma membrane Source: LIFEdb
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Schizophrenia 2 (SCZD2) [MIM:603342]: A 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.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.1 Publication

Keywords - Diseasei

Schizophrenia

Organism-specific databases

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

PTM / Processingi

Molecule processing

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

Proteomic databases

MaxQBiQ9H0Q3.
PaxDbiQ9H0Q3.
PRIDEiQ9H0Q3.

PTM databases

PhosphoSiteiQ9H0Q3.

Expressioni

Gene expression databases

ArrayExpressiQ9H0Q3.
BgeeiQ9H0Q3.
CleanExiHS_FXYD6.
GenevestigatoriQ9H0Q3.

Organism-specific databases

HPAiHPA041334.

Interactioni

Protein-protein interaction databases

BioGridi119799. 13 interactions.
IntActiQ9H0Q3. 16 interactions.
MINTiMINT-1372177.
STRINGi9606.ENSP00000260282.

Structurei

3D structure databases

ProteinModelPortaliQ9H0Q3.
SMRiQ9H0Q3. Positions 28-58.

Family & Domainsi

Sequence similaritiesi

Belongs to the FXYD family.

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG40995.
HOGENOMiHOG000234467.
HOVERGENiHBG008212.
InParanoidiQ9H0Q3.
KOiK13363.
OMAiRERRNDW.
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. Align

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

MELVLVFLCS LLAPMVLASA AEKEKEMDPF HYDYQTLRIG GLVFAVVLFS   50
VGILLILSRR CKCSFNQKPR APGDEEAQVE NLITANATEP QKAEN 95
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.

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei58 – 9538SRRCK…QKAEN → RPQEMRKPRWRTSSPPMQQS PRKQRTEVQPSGGRRQPQGG RGPVLLWQKIPLWGQ in isoform 2.
VSP_045996Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_001230527.1. NM_001243598.2. [Q9H0Q3-2]
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]
ENST00000540359; ENSP00000444243; ENSG00000137726. [Q9H0Q3-1]
GeneIDi100533181.
53826.
KEGGihsa:100533181.
hsa:53826.
UCSCiuc001pro.2. human. [Q9H0Q3-1]

Polymorphism databases

DMDMi20138342.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS8387.1. [Q9H0Q3-1 ]
RefSeqi NP_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_001230527.1. NM_001243598.2. [Q9H0Q3-2 ]
NP_071286.1. NM_022003.3. [Q9H0Q3-1 ]
UniGenei Hs.744850.

3D structure databases

ProteinModelPortali Q9H0Q3.
SMRi Q9H0Q3. Positions 28-58.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 119799. 13 interactions.
IntActi Q9H0Q3. 16 interactions.
MINTi MINT-1372177.
STRINGi 9606.ENSP00000260282.

Protein family/group databases

TCDBi 1.A.27.1.3. the phospholemman (plm) family.

PTM databases

PhosphoSitei Q9H0Q3.

Polymorphism databases

DMDMi 20138342.

Proteomic databases

MaxQBi Q9H0Q3.
PaxDbi Q9H0Q3.
PRIDEi Q9H0Q3.

Protocols and materials databases

DNASUi 53826.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000260282 ; 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 ]
ENST00000540359 ; ENSP00000444243 ; ENSG00000137726 . [Q9H0Q3-1 ]
GeneIDi 100533181.
53826.
KEGGi hsa:100533181.
hsa:53826.
UCSCi uc001pro.2. human. [Q9H0Q3-1 ]

Organism-specific databases

CTDi 100533181.
53826.
GeneCardsi GC11M117741.
HGNCi HGNC:4030. FXYD6.
HPAi HPA041334.
MIMi 181500. phenotype.
603342. phenotype.
606683. gene.
neXtProti NX_Q9H0Q3.
Orphaneti 3140. Schizophrenia.
PharmGKBi PA28446.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG40995.
HOGENOMi HOG000234467.
HOVERGENi HBG008212.
InParanoidi Q9H0Q3.
KOi K13363.
OMAi RERRNDW.
OrthoDBi EOG72NRRZ.
PhylomeDBi Q9H0Q3.
TreeFami TF333443.

Enzyme and pathway databases

Reactomei REACT_25149. Ion transport by P-type ATPases.

Miscellaneous databases

NextBioi 35536565.
PROi Q9H0Q3.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9H0Q3.
Bgeei Q9H0Q3.
CleanExi HS_FXYD6.
Genevestigatori Q9H0Q3.

Family and domain databases

InterProi IPR000272. Ion-transport_regulator_FXYD.
[Graphical view ]
Pfami PF02038. ATP1G1_PLM_MAT8. 1 hit.
[Graphical view ]
ProDomi PD005989. PD005989. 1 hit.
[Graphical view ] [Entries sharing at least one domain ]
PROSITEi PS01310. FXYD. 1 hit.
[Graphical view ]
ProtoNeti Search...

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: September 3, 2014
This is version 119 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

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