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Q9H0Q3

- FXYD6_HUMAN

UniProt

Q9H0Q3 - FXYD6_HUMAN

Protein

FXYD domain-containing ion transport regulator 6

Gene

FXYD6

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

    GO - Molecular functioni

    1. ion channel activity Source: InterPro

    GO - Biological processi

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

    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

    GO - Cellular componenti

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

    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.1 Publication
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.

    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 – 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

    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

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

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei36 – 5823HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the FXYD family.Curated

    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. 1 PublicationVSP_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

    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: October 1, 2014
    This is version 120 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