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Q8R507

- FKTN_MOUSE

UniProt

Q8R507 - FKTN_MOUSE

Protein

Fukutin

Gene

Fktn

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 93 (01 Oct 2014)
      Sequence version 1 (01 Jun 2002)
      Previous versions | rss
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    Functioni

    May be a glycosyltransferase which participates in glycosylation of alpha-dystroglycan/DAG1. May interact with and reinforce a large complex encompassing the outside and inside of muscle membranes. Could be involved in brain development.1 Publication

    GO - Molecular functioni

    1. transferase activity Source: UniProtKB-KW

    GO - Biological processi

    1. negative regulation of cell proliferation Source: BHF-UCL
    2. negative regulation of JNK cascade Source: BHF-UCL
    3. neuron migration Source: BHF-UCL
    4. regulation of protein glycosylation Source: BHF-UCL

    Keywords - Molecular functioni

    Transferase

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Fukutin (EC:2.-.-.-)
    Gene namesi
    Name:Fktn
    Synonyms:Fcmd
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 4

    Organism-specific databases

    MGIiMGI:2179507. Fktn.

    Subcellular locationi

    GO - Cellular componenti

    1. cis-Golgi network Source: UniProtKB
    2. endoplasmic reticulum Source: BHF-UCL
    3. Golgi apparatus Source: MGI
    4. Golgi membrane Source: UniProtKB-SubCell
    5. integral component of membrane Source: UniProtKB-KW
    6. nucleus Source: BHF-UCL

    Keywords - Cellular componenti

    Golgi apparatus, Membrane

    Pathology & Biotechi

    Disruption phenotypei

    Results in embryonic lethality. However, when human FCMD disease-causing retrotransposon is introduced into the mouse fukutin gene, alpha-dystroglycan/DAG1 is hypoglycosylated in muscles as is seen in FCMD (congenital muscular dystrophy Fukuyama) patients. Transfer of normal fukutin gene into these knock-in mice restores glycosylation of alpha-dystroglycan.1 Publication

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 461461FukutinPRO_0000204722Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi92 – 921N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PRIDEiQ8R507.

    PTM databases

    PhosphoSiteiQ8R507.

    Expressioni

    Tissue specificityi

    According to PubMed:12471058: predominantly detected in brain, liver and kidney. According to PubMed:12408965: detected in all adult tissues examined.

    Developmental stagei

    Wide distribution of expression throughout embryonic development, most predominantly in the central and peripheral nervous systems. High expression in the ventricular zone of proliferating neurons at 13.5 dpc. Broadly expressed in late embryonic and early postnatal cerebellar neurons, including premigratory granule neurons of the external granule cell layer. Expression is maintained in neurons of the internal granule cell layer after migration is complete. Intense expression in Purkinje cells throughout development. A unique pattern of intense expression in irregularly spaced cell bodies that do not appear to correlate with known parasagittal stripes. Expressed in Bergmann glial scaffolds used by granule cells during early posnatal radial migration.1 Publication

    Gene expression databases

    ArrayExpressiQ8R507.
    BgeeiQ8R507.
    CleanExiMM_FKTN.
    GenevestigatoriQ8R507.

    Structurei

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 77CytoplasmicSequence Analysis
    Topological domaini29 – 461433LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei8 – 2821Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the LicD transferase family.Curated

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG83383.
    GeneTreeiENSGT00390000014471.
    HOGENOMiHOG000231657.
    HOVERGENiHBG005068.
    InParanoidiQ8R507.
    OMAiPVKTWDW.
    OrthoDBiEOG7M6D86.
    PhylomeDBiQ8R507.
    TreeFamiTF319633.

    Family and domain databases

    InterProiIPR009644. Fukutin-related.
    IPR007074. LicD.
    [Graphical view]
    PANTHERiPTHR15407. PTHR15407. 1 hit.
    PfamiPF04991. LicD. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q8R507-1 [UniParc]FASTAAdd to Basket

    « Hide

    MSRINKNVVL ALLTLTSSAF LLFQLYYYKH YLSARNGPGS SKSKGNRVGF    50
    DSTQWRAVKK FIMLTSSQNV PVFLIDPWIL ESINKNFEQV KNASQGPASE 100
    CRFFCVPRDF TAFALQYHLW KNEDGWFRIA ENMGFQCLKT ESKDPRLDGI 150
    DSLSGTEIPL HYVCKLTTHA IHLVVFHERS GNYLWHGHLR LKGHMDRKFV 200
    PFRKLQFGRY PGAFDRPELQ QVTVDGLDML IPKDPGRFLE EVPHSRFIEC 250
    RYKEARAFLQ QYIDDNTVDA MVFRKRAKEL LQLAAKTLKD LGVPFWLSSG 300
    TCLGWYRQCG IIPYSKDVDL GIFIQDYKPD IILAFQEAGL PLKHKFGKVE 350
    DSLELSFQGK NDVKLDIFFF YEEADHLWNG GTQARTGKKF KYLFPKFTLC 400
    WTEFVDIKVH VPCETVDYIE ANYGKTWKIP IKTWDWKSSP PNVQPNGIWP 450
    ISEWDEVIQL Y 461
    Length:461
    Mass (Da):53,579
    Last modified:June 1, 2002 - v1
    Checksum:i1E1E0C5F187FCC39
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti38 – 381P → L in AAH17538. (PubMed:15489334)Curated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ511807 mRNA. Translation: CAD54302.1.
    AB077383 mRNA. Translation: BAB87769.1.
    AK085931 mRNA. Translation: BAC39572.1.
    BC017538 mRNA. Translation: AAH17538.1.
    CCDSiCCDS18191.1.
    RefSeqiNP_647470.1. NM_139309.4.
    UniGeneiMm.247210.

    Genome annotation databases

    EnsembliENSMUST00000061771; ENSMUSP00000061489; ENSMUSG00000028414.
    ENSMUST00000128667; ENSMUSP00000114699; ENSMUSG00000028414.
    GeneIDi246179.
    KEGGimmu:246179.
    UCSCiuc008sxe.1. mouse.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ511807 mRNA. Translation: CAD54302.1 .
    AB077383 mRNA. Translation: BAB87769.1 .
    AK085931 mRNA. Translation: BAC39572.1 .
    BC017538 mRNA. Translation: AAH17538.1 .
    CCDSi CCDS18191.1.
    RefSeqi NP_647470.1. NM_139309.4.
    UniGenei Mm.247210.

    3D structure databases

    ModBasei Search...
    MobiDBi Search...

    PTM databases

    PhosphoSitei Q8R507.

    Proteomic databases

    PRIDEi Q8R507.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000061771 ; ENSMUSP00000061489 ; ENSMUSG00000028414 .
    ENSMUST00000128667 ; ENSMUSP00000114699 ; ENSMUSG00000028414 .
    GeneIDi 246179.
    KEGGi mmu:246179.
    UCSCi uc008sxe.1. mouse.

    Organism-specific databases

    CTDi 2218.
    MGIi MGI:2179507. Fktn.

    Phylogenomic databases

    eggNOGi NOG83383.
    GeneTreei ENSGT00390000014471.
    HOGENOMi HOG000231657.
    HOVERGENi HBG005068.
    InParanoidi Q8R507.
    OMAi PVKTWDW.
    OrthoDBi EOG7M6D86.
    PhylomeDBi Q8R507.
    TreeFami TF319633.

    Miscellaneous databases

    ChiTaRSi FKTN. mouse.
    NextBioi 387143.
    PROi Q8R507.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8R507.
    Bgeei Q8R507.
    CleanExi MM_FKTN.
    Genevestigatori Q8R507.

    Family and domain databases

    InterProi IPR009644. Fukutin-related.
    IPR007074. LicD.
    [Graphical view ]
    PANTHERi PTHR15407. PTHR15407. 1 hit.
    Pfami PF04991. LicD. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], SUBCELLULAR LOCATION, POSSIBLE FUNCTION.
      Strain: C57BL/6.
      Tissue: Brain.
    2. "Isolation and characterization of the mouse ortholog of the Fukuyama-type congenital muscular dystrophy gene."
      Horie M., Kobayashi K., Takeda S., Nakamura Y., Lyons G.E., Toda T.
      Genomics 80:482-486(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Strain: C57BL/6.
    3. "The transcriptional landscape of the mammalian genome."
      Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.
      , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
      Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Strain: C57BL/6J.
      Tissue: Heart.
    4. "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].
      Tissue: Retina.
    5. "Expression of dystroglycan, fukutin and POMGnT1 during mouse cerebellar development."
      Henion T.R., Qu Q., Smith F.I.
      Brain Res. Mol. Brain Res. 112:177-181(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: DEVELOPMENTAL STAGE.
    6. "Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy."
      Kanagawa M., Nishimoto A., Chiyonobu T., Takeda S., Miyagoe-Suzuki Y., Wang F., Fujikake N., Taniguchi M., Lu Z., Tachikawa M., Nagai Y., Tashiro F., Miyazaki J., Tajima Y., Takeda S., Endo T., Kobayashi K., Campbell K.P., Toda T.
      Hum. Mol. Genet. 18:621-631(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: DISRUPTION PHENOTYPE, FUNCTION.

    Entry informationi

    Entry nameiFKTN_MOUSE
    AccessioniPrimary (citable) accession number: Q8R507
    Secondary accession number(s): Q8VD64
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 13, 2004
    Last sequence update: June 1, 2002
    Last modified: October 1, 2014
    This is version 93 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3