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Q8R507

- FKTN_MOUSE

UniProt

Q8R507 - FKTN_MOUSE

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Protein
Fukutin
Gene
Fktn, Fcmd
Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at transcript leveli

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.2 Publications

GO - Molecular functioni

  1. transferase activity Source: UniProtKB-KW
Complete GO annotation...

GO - Biological processi

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

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

Golgi apparatus membrane; Single-pass type II membrane protein Reviewed prediction 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 77Cytoplasmic Reviewed prediction
Transmembranei8 – 2821Helical; Signal-anchor for type II membrane protein; Reviewed prediction
Add
BLAST
Topological domaini29 – 461433Lumenal Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. Golgi apparatus Source: MGI
  2. Golgi membrane Source: UniProtKB-SubCell
  3. cis-Golgi network Source: UniProtKB
  4. endoplasmic reticulum Source: BHF-UCL
  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

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 – 461461Fukutin
PRO_0000204722Add
BLAST

Amino acid modifications

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

Keywords - PTMi

Glycoprotein

Proteomic databases

PRIDEiQ8R507.

PTM databases

PhosphoSiteiQ8R507.

Expressioni

Tissue specificityi

According to 1 Publication: predominantly detected in brain, liver and kidney. According to 1 Publication: 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.

Family & Domainsi

Sequence similaritiesi

Belongs to the LicD transferase family.

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

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti38 – 381P → L in AAH17538. 1 Publication

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...

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

« 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.

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: July 9, 2014
This is version 92 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

Similar proteinsi