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Q14802

- FXYD3_HUMAN

UniProt

Q14802 - FXYD3_HUMAN

Protein

FXYD domain-containing ion transport regulator 3

Gene

FXYD3

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

    1. chloride channel activity Source: ProtInc

    GO - Biological processi

    1. chloride transmembrane transport Source: GOC
    2. chloride transport Source: ProtInc
    3. ion transmembrane transport Source: Reactome
    4. regulation of catalytic activity Source: Ensembl
    5. transmembrane transport Source: Reactome

    Keywords - Molecular functioni

    Chloride channel, Ion channel

    Keywords - Biological processi

    Ion transport, Transport

    Keywords - Ligandi

    Chloride

    Enzyme and pathway databases

    ReactomeiREACT_25149. 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
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:4027. FXYD3.

    Subcellular locationi

    GO - Cellular componenti

    1. chloride channel complex Source: UniProtKB-KW
    2. endoplasmic reticulum membrane Source: Ensembl
    3. extracellular vesicular exosome Source: UniProt
    4. integral component of plasma membrane Source: ProtInc
    5. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA28443.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2020Sequence AnalysisAdd
    BLAST
    Chaini21 – 8767FXYD domain-containing ion transport regulator 3PRO_0000010362Add
    BLAST

    Proteomic databases

    MaxQBiQ14802.
    PaxDbiQ14802.
    PRIDEiQ14802.

    Expressioni

    Tissue specificityi

    Expressed in a subset of human breast tumors.

    Gene expression databases

    ArrayExpressiQ14802.
    BgeeiQ14802.
    CleanExiHS_FXYD3.
    GenevestigatoriQ14802.

    Organism-specific databases

    HPAiHPA010856.

    Interactioni

    Protein-protein interaction databases

    BioGridi111364. 6 interactions.
    IntActiQ14802. 7 interactions.
    MINTiMINT-5004597.
    STRINGi9606.ENSP00000389770.

    Structurei

    3D structure databases

    ProteinModelPortaliQ14802.
    SMRiQ14802. Positions 25-87.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini21 – 3818ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini60 – 8728CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei39 – 5921HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the FXYD family.Curated

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG40508.
    HOGENOMiHOG000234469.
    HOVERGENiHBG008212.
    KOiK13361.
    OMAiFIPLRTH.
    OrthoDBiEOG7H7956.
    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. Align

    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

    MQKVTLGLLV FLAGFPVLDA NDLEDKNSPF YYDWHSLQVG GLICAGVLCA   50
    MGIIIVMSAK CKCKFGQKSG HHPGETPPLI TPGSAQS 87
    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)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti36 – 372Missing in AAA73922. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti40 – 401G → S.
    Corresponds to variant rs35578165 [ dbSNP | Ensembl ].
    VAR_049109

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 11M → MGRGYSGALQARGGLEEPLE RGLRGPSFTQSPLHGAAAAY LSAQRDASLPVPGQRSDM in isoform 3. 1 PublicationVSP_045716
    Alternative sequencei33 – 8755DWHSL…GSAQS → GESPCPLSPPHNPTYCLVPR VPIQGWGLT in isoform 5. CuratedVSP_047286Add
    BLAST
    Alternative sequencei58 – 581S → SEWRSSGEQAGRGWGSPPLT TQLSPTG in isoform 2 and isoform 4. 1 PublicationVSP_034598
    Alternative sequencei71 – 8717Missing in isoform 4. CuratedVSP_047287Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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_005258996.2. [Q14802-2]
    UniGeneiHs.301350.

    Genome annotation databases

    GeneIDi5349.
    KEGGihsa:5349.
    UCSCiuc002nxv.3. human. [Q14802-1]
    uc002nxw.3. human. [Q14802-2]

    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:
    EMBL
    GenBank
    DDBJ
    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.
    CCDSi CCDS12442.1. [Q14802-1 ]
    CCDS12443.1. [Q14802-2 ]
    CCDS46048.1. [Q14802-3 ]
    CCDS46049.1. [Q14802-4 ]
    CCDS46050.1. [Q14802-5 ]
    PIRi A55571.
    RefSeqi NP_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_005258996.2. [Q14802-2 ]
    UniGenei Hs.301350.

    3D structure databases

    ProteinModelPortali Q14802.
    SMRi Q14802. Positions 25-87.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 111364. 6 interactions.
    IntActi Q14802. 7 interactions.
    MINTi MINT-5004597.
    STRINGi 9606.ENSP00000389770.

    Proteomic databases

    MaxQBi Q14802.
    PaxDbi Q14802.
    PRIDEi Q14802.

    Protocols and materials databases

    DNASUi 5349.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    GeneIDi 5349.
    KEGGi hsa:5349.
    UCSCi uc002nxv.3. human. [Q14802-1 ]
    uc002nxw.3. human. [Q14802-2 ]

    Organism-specific databases

    CTDi 5349.
    GeneCardsi GC19P035606.
    HGNCi HGNC:4027. FXYD3.
    HPAi HPA010856.
    MIMi 604996. gene.
    neXtProti NX_Q14802.
    PharmGKBi PA28443.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG40508.
    HOGENOMi HOG000234469.
    HOVERGENi HBG008212.
    KOi K13361.
    OMAi FIPLRTH.
    OrthoDBi EOG7H7956.
    PhylomeDBi Q14802.
    TreeFami TF333443.

    Enzyme and pathway databases

    Reactomei REACT_25149. Ion transport by P-type ATPases.

    Miscellaneous databases

    ChiTaRSi FXYD3. human.
    GeneWikii FXYD3.
    GenomeRNAii 5349.
    NextBioi 20732.
    PROi Q14802.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q14802.
    Bgeei Q14802.
    CleanExi HS_FXYD3.
    Genevestigatori Q14802.

    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. "Mat-8, a novel phospholemman-like protein expressed in human breast tumors, induces a chloride conductance in Xenopus oocytes."
      Morrison B.W., Moorman J.R., Kowdley G.C., Kobayashi Y.M., Jones L.R., Leder P.
      J. Biol. Chem. 270:2176-2182(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Mammary gland.
    2. "Two novel cDNAs express specifically in RA-treated human lung adenocarcinoma cell line GLC-82."
      Lei W., Wu M.
      Submitted (JUL-1995) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
      Tissue: Lung carcinoma.
    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. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
      Halleck A., Ebert L., Mkoundinya M., Schick M., Eisenstein S., Neubert P., Kstrang K., Schatten R., Shen B., Henze S., Mar W., Korn B., Zuo D., Hu Y., LaBaer J.
      Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    5. "The DNA sequence and biology of human chromosome 19."
      Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
      , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
      Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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] (ISOFORMS 1 AND 3).
      Tissue: Melanoma and Urinary bladder.

    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: October 1, 2014
    This is version 129 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

    External Data

    Dasty 3