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Q8R507 (FKTN_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 92. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Fukutin

EC=2.-.-.-
Gene names
Name:Fktn
Synonyms:Fcmd
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length461 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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. Ref.1 Ref.6

Subcellular location

Golgi apparatus membrane; Single-pass type II membrane protein Potential Ref.1.

Tissue specificity

According to Ref.1: predominantly detected in brain, liver and kidney. According to Ref.2: detected in all adult tissues examined.

Developmental stage

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. Ref.5

Disruption phenotype

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. Ref.6

Sequence similarities

Belongs to the LicD transferase family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 461461Fukutin
PRO_0000204722

Regions

Topological domain1 – 77Cytoplasmic Potential
Transmembrane8 – 2821Helical; Signal-anchor for type II membrane protein; Potential
Topological domain29 – 461433Lumenal Potential

Amino acid modifications

Glycosylation921N-linked (GlcNAc...) Potential

Experimental info

Sequence conflict381P → L in AAH17538. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Q8R507 [UniParc].

Last modified June 1, 2002. Version 1.
Checksum: 1E1E0C5F187FCC39

FASTA46153,579
        10         20         30         40         50         60 
MSRINKNVVL ALLTLTSSAF LLFQLYYYKH YLSARNGPGS SKSKGNRVGF DSTQWRAVKK 

        70         80         90        100        110        120 
FIMLTSSQNV PVFLIDPWIL ESINKNFEQV KNASQGPASE CRFFCVPRDF TAFALQYHLW 

       130        140        150        160        170        180 
KNEDGWFRIA ENMGFQCLKT ESKDPRLDGI DSLSGTEIPL HYVCKLTTHA IHLVVFHERS 

       190        200        210        220        230        240 
GNYLWHGHLR LKGHMDRKFV PFRKLQFGRY PGAFDRPELQ QVTVDGLDML IPKDPGRFLE 

       250        260        270        280        290        300 
EVPHSRFIEC RYKEARAFLQ QYIDDNTVDA MVFRKRAKEL LQLAAKTLKD LGVPFWLSSG 

       310        320        330        340        350        360 
TCLGWYRQCG IIPYSKDVDL GIFIQDYKPD IILAFQEAGL PLKHKFGKVE DSLELSFQGK 

       370        380        390        400        410        420 
NDVKLDIFFF YEEADHLWNG GTQARTGKKF KYLFPKFTLC WTEFVDIKVH VPCETVDYIE 

       430        440        450        460 
ANYGKTWKIP IKTWDWKSSP PNVQPNGIWP ISEWDEVIQL Y 

« Hide

References

« Hide 'large scale' references
[1]"Functional requirements for fukutin-related protein in the Golgi apparatus."
Esapa C.T., Benson M.A., Schroeder J.E., Martin-Rendon E., Brockington M., Brown S.C., Muntoni F., Kroeger S., Blake D.J.
Hum. Mol. Genet. 11:3319-3331(2002) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ511807 mRNA. Translation: CAD54302.1.
AB077383 mRNA. Translation: BAB87769.1.
AK085931 mRNA. Translation: BAC39572.1.
BC017538 mRNA. Translation: AAH17538.1.
CCDSCCDS18191.1.
RefSeqNP_647470.1. NM_139309.4.
UniGeneMm.247210.

3D structure databases

ModBaseSearch...
MobiDBSearch...

PTM databases

PhosphoSiteQ8R507.

Proteomic databases

PRIDEQ8R507.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000061771; ENSMUSP00000061489; ENSMUSG00000028414.
ENSMUST00000128667; ENSMUSP00000114699; ENSMUSG00000028414.
GeneID246179.
KEGGmmu:246179.
UCSCuc008sxe.1. mouse.

Organism-specific databases

CTD2218.
MGIMGI:2179507. Fktn.

Phylogenomic databases

eggNOGNOG83383.
GeneTreeENSGT00390000014471.
HOGENOMHOG000231657.
HOVERGENHBG005068.
InParanoidQ8R507.
OMAPVKTWDW.
OrthoDBEOG7M6D86.
PhylomeDBQ8R507.
TreeFamTF319633.

Gene expression databases

ArrayExpressQ8R507.
BgeeQ8R507.
CleanExMM_FKTN.
GenevestigatorQ8R507.

Family and domain databases

InterProIPR009644. Fukutin-related.
IPR007074. LicD.
[Graphical view]
PANTHERPTHR15407. PTHR15407. 1 hit.
PfamPF04991. LicD. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSFKTN. mouse.
NextBio387143.
PROQ8R507.
SOURCESearch...

Entry information

Entry nameFKTN_MOUSE
AccessionPrimary (citable) accession number: Q8R507
Secondary accession number(s): Q8VD64
Entry history
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 statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot