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Protein

Fukutin

Gene

Fktn

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript leveli

Functioni

Glycosyltransferase involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. May interact with and reinforce a large complex encompassing the outside and inside of muscle membranes. Could be involved in brain development.2 Publications

Pathwayi

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. protein O-linked mannosylation Source: UniProtKB
  5. regulation of protein glycosylation Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Transferase

Enzyme and pathway databases

UniPathwayiUPA00378.

Names & Taxonomyi

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

Organism-specific databases

MGIiMGI:2179507. Fktn.

Subcellular locationi

  1. Golgi apparatus membrane 1 Publication; Single-pass type II membrane protein Curated

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 77CytoplasmicSequence Analysis
Transmembranei8 – 2821Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
BLAST
Topological domaini29 – 461433LumenalSequence AnalysisAdd
BLAST

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
Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Disruption phenotypei

Embryonic lethality (PubMed:19017726). 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 (PubMed:19017726). Conditional knockout in muscle results in near absence of glycosylated dystroglycan within 18 days of gene deletion. 20 week-old knockout mice show clear dystrophic histopathology and defects in glycosylation near the dystroglycan O-mannose phosphate when excision driven by muscle-specific promoters takes place at E8 or E17. Earlier gene deletion causes more severe phenotypes (PubMed:22922256).2 Publications

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

BgeeiQ8R507.
CleanExiMM_FKTN.
ExpressionAtlasiQ8R507. baseline.
GenevestigatoriQ8R507.

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

        10         20         30         40         50
MSRINKNVVL ALLTLTSSAF LLFQLYYYKH YLSARNGPGS SKSKGNRVGF
60 70 80 90 100
DSTQWRAVKK FIMLTSSQNV PVFLIDPWIL ESINKNFEQV KNASQGPASE
110 120 130 140 150
CRFFCVPRDF TAFALQYHLW KNEDGWFRIA ENMGFQCLKT ESKDPRLDGI
160 170 180 190 200
DSLSGTEIPL HYVCKLTTHA IHLVVFHERS GNYLWHGHLR LKGHMDRKFV
210 220 230 240 250
PFRKLQFGRY PGAFDRPELQ QVTVDGLDML IPKDPGRFLE EVPHSRFIEC
260 270 280 290 300
RYKEARAFLQ QYIDDNTVDA MVFRKRAKEL LQLAAKTLKD LGVPFWLSSG
310 320 330 340 350
TCLGWYRQCG IIPYSKDVDL GIFIQDYKPD IILAFQEAGL PLKHKFGKVE
360 370 380 390 400
DSLELSFQGK NDVKLDIFFF YEEADHLWNG GTQARTGKKF KYLFPKFTLC
410 420 430 440 450
WTEFVDIKVH VPCETVDYIE ANYGKTWKIP IKTWDWKSSP PNVQPNGIWP
460
ISEWDEVIQL Y
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ModBaseiSearch...
MobiDBiSearch...

PTM databases

PhosphoSiteiQ8R507.

Proteomic databases

PRIDEiQ8R507.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi2218.
MGIiMGI:2179507. Fktn.

Phylogenomic databases

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

Enzyme and pathway databases

UniPathwayiUPA00378.

Miscellaneous databases

ChiTaRSiFktn. mouse.
NextBioi387143.
PROiQ8R507.
SOURCEiSearch...

Gene expression databases

BgeeiQ8R507.
CleanExiMM_FKTN.
ExpressionAtlasiQ8R507. baseline.
GenevestigatoriQ8R507.

Family and domain databases

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

Publicationsi

« Hide 'large scale' publications
  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, PATHWAY.
  7. "Mouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophy."
    Beedle A.M., Turner A.J., Saito Y., Lueck J.D., Foltz S.J., Fortunato M.J., Nienaber P.M., Campbell K.P.
    J. Clin. Invest. 122:3330-3342(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: DISRUPTION PHENOTYPE.

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: February 4, 2015
This is version 97 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. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  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.