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Protein

Fukutin

Gene

FKTN

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

Pathwayi

GO - Molecular functioni

  1. transferase activity Source: UniProtKB-KW

GO - Biological processi

  1. muscle organ development Source: ProtInc
  2. negative regulation of cell proliferation Source: BHF-UCL
  3. negative regulation of JNK cascade Source: BHF-UCL
  4. nervous system development Source: ProtInc
  5. protein O-linked mannosylation Source: UniProtKB
  6. 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.-.-.-)
Alternative name(s):
Fukuyama-type congenital muscular dystrophy protein
Gene namesi
Name:FKTN
Synonyms:FCMD
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:3622. FKTN.

Subcellular locationi

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. extracellular space Source: ProtInc
  4. Golgi apparatus Source: UniProtKB
  5. Golgi membrane Source: UniProtKB-SubCell
  6. integral component of membrane Source: UniProtKB-KW
  7. nucleus Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4 (MDDGA4)4 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAn autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease.

See also OMIM:253800
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti170 – 1701A → E in MDDGA4. 1 Publication
VAR_065051
Natural varianti250 – 2501C → G in MDDGA4. 1 Publication
VAR_018278
Natural varianti371 – 3711Y → C in MDDGA4. 1 Publication
VAR_065054
Muscular dystrophy-dystroglycanopathy congenital without mental retardation B4 (MDDGB4)4 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAn autosomal recessive disorder characterized by congenital muscular dystrophy and evidence of dystroglycanopathy. Features included increased serum creatine kinase, generalized weakness, mild white matter changes on brain MRI, and absence of mental retardation.

See also OMIM:613152
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti246 – 2461R → G in MDDGB4; detected in a compound heterozygote with very mild phenotype carrying a non-sense mutation. 1 Publication
VAR_065053
Natural varianti307 – 3071R → Q in MDDGB4 and MDDGC4; the mutant protein is expressed and localized correctly within the cell. 3 Publications
VAR_039288
Muscular dystrophy-dystroglycanopathy limb-girdle C4 (MDDGC4)2 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAn autosomal recessive degenerative myopathy characterized by progressive weakness of the pelvic and shoulder girdle muscles, and elevated serum creatine kinase. MDDGC4 has no brain involvement and a remarkable clinical response to corticosteroids.

See also OMIM:611588
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti114 – 1141A → T in MDDGC4. 1 Publication
VAR_065050
Natural varianti176 – 1761F → S in MDDGC4. 1 Publication
VAR_065052
Natural varianti307 – 3071R → Q in MDDGB4 and MDDGC4; the mutant protein is expressed and localized correctly within the cell. 3 Publications
VAR_039288
Cardiomyopathy, dilated 1X (CMD1X)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

See also OMIM:611615
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti179 – 1791R → T in CMD1X. 1 Publication
VAR_039287
Natural varianti358 – 3581Q → P in CMD1X. 1 Publication
VAR_039289

Keywords - Diseasei

Cardiomyopathy, Congenital muscular dystrophy, Disease mutation, Dystroglycanopathy, Limb-girdle muscular dystrophy, Lissencephaly

Organism-specific databases

MIMi253800. phenotype.
611588. phenotype.
611615. phenotype.
613152. phenotype.
Orphaneti206554. Autosomal recessive limb-girdle muscular dystrophy type 2M.
370980. Congenital muscular dystrophy without intellectual disability.
272. Congenital muscular dystrophy, Fukuyama type.
154. Familial isolated dilated cardiomyopathy.
588. Muscle-eye-brain disease.
899. Walker-Warburg syndrome.
PharmGKBiPA162388669.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 461461FukutinPRO_0000204720Add
BLAST

Amino acid modifications

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

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiO75072.
PaxDbiO75072.
PRIDEiO75072.

PTM databases

PhosphoSiteiO75072.

Expressioni

Tissue specificityi

Widely expressed with highest expression in brain, heart, pancreas and skeletal muscle. Expressed at similar levels in control fetal and adult brain, but is much reduced in Fukuyama-type congenital dystrophy (FCMD) brains. Expressed in migrating neurons, including Cajar-Retzius cells and adult cortical neurons, as well as hippocampal pyramidal cells and cerebellar Purkinje cells. No expression observed in the glia limitans, the subpial astrocytes (which contribute to basement membrane formation) or other glial cells. In the FCMD brain, neurons in regions with no dysplasia show fair expression, whereas transcripts are nearly undetectable in the overmigrated dysplastic region.1 Publication

Gene expression databases

BgeeiO75072.
CleanExiHS_FKTN.
ExpressionAtlasiO75072. baseline and differential.
GenevestigatoriO75072.

Organism-specific databases

HPAiHPA012820.

Interactioni

Protein-protein interaction databases

BioGridi108512. 2 interactions.
STRINGi9606.ENSP00000223528.

Structurei

3D structure databases

ProteinModelPortaliO75072.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the LicD transferase family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG83383.
GeneTreeiENSGT00390000014471.
HOGENOMiHOG000231657.
HOVERGENiHBG005068.
InParanoidiO75072.
OMAiPVKTWDW.
OrthoDBiEOG7M6D86.
PhylomeDBiO75072.
TreeFamiTF319633.

Family and domain databases

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

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O75072-1) [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

        10         20         30         40         50
MSRINKNVVL ALLTLTSSAF LLFQLYYYKH YLSTKNGAGL SKSKGSRIGF
60 70 80 90 100
DSTQWRAVKK FIMLTSNQNV PVFLIDPLIL ELINKNFEQV KNTSHGSTSQ
110 120 130 140 150
CKFFCVPRDF TAFALQYHLW KNEEGWFRIA ENMGFQCLKI ESKDPRLDGI
160 170 180 190 200
DSLSGTEIPL HYICKLATHA IHLVVFHERS GNYLWHGHLR LKEHIDRKFV
210 220 230 240 250
PFRKLQFGRY PGAFDRPELQ QVTVDGLEVL IPKDPMHFVE EVPHSRFIEC
260 270 280 290 300
RYKEARAFFQ QYLDDNTVEA VAFRKSAKEL LQLAAKTLNK LGVPFWLSSG
310 320 330 340 350
TCLGWYRQCN IIPYSKDVDL GIFIQDYKSD IILAFQDAGL PLKHKFGKVE
360 370 380 390 400
DSLELSFQGK DDVKLDVFFF YEETDHMWNG GTQAKTGKKF KYLFPKFTLC
410 420 430 440 450
WTEFVDMKVH VPCETLEYIE ANYGKTWKIP VKTWDWKRSP PNVQPNGIWP
460
ISEWDEVIQL Y
Length:461
Mass (Da):53,724
Last modified:February 12, 2003 - v2
Checksum:i2D11F28E4BCCD858
GO
Isoform 2 (identifier: O75072-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     426-461: TWKIPVKTWDWKRSPPNVQPNGIWPISEWDEVIQLY → NQQGA

Note: No experimental confirmation available.

Show »
Length:430
Mass (Da):49,832
Checksum:i02A2C72C4FFAEE1C
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti414 – 4141E → K in BAG62491 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti56 – 561R → C.
Corresponds to variant rs41277797 [ dbSNP | Ensembl ].
VAR_061296
Natural varianti114 – 1141A → T in MDDGC4. 1 Publication
VAR_065050
Natural varianti125 – 1251G → S in a patient diagnosed with Walker-Warburg syndrome. 1 Publication
Corresponds to variant rs34006675 [ dbSNP | Ensembl ].
VAR_033926
Natural varianti170 – 1701A → E in MDDGA4. 1 Publication
VAR_065051
Natural varianti176 – 1761F → S in MDDGC4. 1 Publication
VAR_065052
Natural varianti179 – 1791R → T in CMD1X. 1 Publication
VAR_039287
Natural varianti203 – 2031R → Q.1 Publication
Corresponds to variant rs34787999 [ dbSNP | Ensembl ].
VAR_033927
Natural varianti225 – 2251D → E in a breast cancer sample; somatic mutation. 1 Publication
VAR_036334
Natural varianti225 – 2251D → N in a breast cancer sample; somatic mutation. 1 Publication
VAR_036335
Natural varianti246 – 2461R → G in MDDGB4; detected in a compound heterozygote with very mild phenotype carrying a non-sense mutation. 1 Publication
VAR_065053
Natural varianti250 – 2501C → G in MDDGA4. 1 Publication
VAR_018278
Natural varianti307 – 3071R → Q in MDDGB4 and MDDGC4; the mutant protein is expressed and localized correctly within the cell. 3 Publications
VAR_039288
Natural varianti358 – 3581Q → P in CMD1X. 1 Publication
VAR_039289
Natural varianti371 – 3711Y → C in MDDGA4. 1 Publication
VAR_065054
Natural varianti446 – 4461N → D.1 Publication
Corresponds to variant rs41313301 [ dbSNP | Ensembl ].
VAR_018279

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei426 – 46136TWKIP…VIQLY → NQQGA in isoform 2. 1 PublicationVSP_045961Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB008226 mRNA. Translation: BAA32000.1.
AB038490 Genomic DNA. Translation: BAA94082.1.
AK300840 mRNA. Translation: BAG62491.1.
AL158070 Genomic DNA. Translation: CAC22162.1.
BC101808 mRNA. Translation: AAI01809.1.
BC112038 mRNA. Translation: AAI12039.1.
BC117699 mRNA. Translation: AAI17700.1.
CCDSiCCDS6766.1. [O75072-1]
RefSeqiNP_001073270.1. NM_001079802.1. [O75072-1]
NP_001185892.1. NM_001198963.1. [O75072-2]
NP_006722.2. NM_006731.2. [O75072-1]
XP_005251860.1. XM_005251803.1. [O75072-1]
XP_005251861.1. XM_005251804.2. [O75072-1]
UniGeneiHs.55777.

Genome annotation databases

EnsembliENST00000223528; ENSP00000223528; ENSG00000106692. [O75072-1]
ENST00000357998; ENSP00000350687; ENSG00000106692. [O75072-2]
ENST00000448551; ENSP00000399140; ENSG00000106692. [O75072-2]
ENST00000602661; ENSP00000473540; ENSG00000106692. [O75072-1]
GeneIDi2218.
KEGGihsa:2218.
UCSCiuc004bcr.3. human. [O75072-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

GGDB

GlycoGene database

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB008226 mRNA. Translation: BAA32000.1.
AB038490 Genomic DNA. Translation: BAA94082.1.
AK300840 mRNA. Translation: BAG62491.1.
AL158070 Genomic DNA. Translation: CAC22162.1.
BC101808 mRNA. Translation: AAI01809.1.
BC112038 mRNA. Translation: AAI12039.1.
BC117699 mRNA. Translation: AAI17700.1.
CCDSiCCDS6766.1. [O75072-1]
RefSeqiNP_001073270.1. NM_001079802.1. [O75072-1]
NP_001185892.1. NM_001198963.1. [O75072-2]
NP_006722.2. NM_006731.2. [O75072-1]
XP_005251860.1. XM_005251803.1. [O75072-1]
XP_005251861.1. XM_005251804.2. [O75072-1]
UniGeneiHs.55777.

3D structure databases

ProteinModelPortaliO75072.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108512. 2 interactions.
STRINGi9606.ENSP00000223528.

PTM databases

PhosphoSiteiO75072.

Proteomic databases

MaxQBiO75072.
PaxDbiO75072.
PRIDEiO75072.

Protocols and materials databases

DNASUi2218.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000223528; ENSP00000223528; ENSG00000106692. [O75072-1]
ENST00000357998; ENSP00000350687; ENSG00000106692. [O75072-2]
ENST00000448551; ENSP00000399140; ENSG00000106692. [O75072-2]
ENST00000602661; ENSP00000473540; ENSG00000106692. [O75072-1]
GeneIDi2218.
KEGGihsa:2218.
UCSCiuc004bcr.3. human. [O75072-1]

Organism-specific databases

CTDi2218.
GeneCardsiGC09P108320.
GeneReviewsiFKTN.
HGNCiHGNC:3622. FKTN.
HPAiHPA012820.
MIMi253800. phenotype.
607440. gene.
611588. phenotype.
611615. phenotype.
613152. phenotype.
neXtProtiNX_O75072.
Orphaneti206554. Autosomal recessive limb-girdle muscular dystrophy type 2M.
370980. Congenital muscular dystrophy without intellectual disability.
272. Congenital muscular dystrophy, Fukuyama type.
154. Familial isolated dilated cardiomyopathy.
588. Muscle-eye-brain disease.
899. Walker-Warburg syndrome.
PharmGKBiPA162388669.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG83383.
GeneTreeiENSGT00390000014471.
HOGENOMiHOG000231657.
HOVERGENiHBG005068.
InParanoidiO75072.
OMAiPVKTWDW.
OrthoDBiEOG7M6D86.
PhylomeDBiO75072.
TreeFamiTF319633.

Enzyme and pathway databases

UniPathwayiUPA00378.

Miscellaneous databases

ChiTaRSiFKTN. human.
GeneWikiiFukutin.
GenomeRNAii2218.
NextBioi35535038.
PROiO75072.
SOURCEiSearch...

Gene expression databases

BgeeiO75072.
CleanExiHS_FKTN.
ExpressionAtlasiO75072. baseline and differential.
GenevestigatoriO75072.

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] (ISOFORM 1), VARIANT GLN-203.
    Tissue: Brain.
  2. "Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin."
    Kobayashi K., Sasaki J., Kondo-Iida E., Fukuda Y., Kinoshita M., Sunada Y., Nakamura Y., Toda T.
    FEBS Lett. 489:192-196(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Small intestine.
  4. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "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(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  6. Cited for: DISEASE.
  7. Cited for: TISSUE SPECIFICITY, DISEASE.
  8. "Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy."
    Hayashi Y.K., Ogawa M., Tagawa K., Noguchi S., Ishihara T., Nonaka I., Arahata K.
    Neurology 57:115-121(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: DISEASE, POSSIBLE FUNCTION.
  9. Cited for: DISEASE.
  10. Cited for: INVOLVEMENT IN MDDGB4, VARIANT ASP-446.
  11. "Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome."
    Cotarelo R.P., Valero M.C., Prados B., Pena A., Rodriguez L., Fano O., Marco J.J., Martinez-Frias M.L., Cruces J.
    Clin. Genet. 73:139-145(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN MDDGB4, VARIANT SER-125.
  12. Cited for: INVOLVEMENT IN MDDGA4.
  13. "The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated alpha-dystroglycan functional glycosylation."
    Willer T., Inamori K.I., Venzke D., Harvey C., Morgensen G., Hara Y., Beltran Valero de Bernabe D., Yu L., Wright K.M., Campbell K.P.
    Elife 3:0-0(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, PATHWAY.
  14. "Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD)."
    Kondo-Iida E., Kobayashi K., Watanabe M., Sasaki J., Kumagai T., Koide H., Saito K., Osawa M., Nakamura Y., Toda T.
    Hum. Mol. Genet. 8:2303-2309(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MDDGA4 GLY-250.
  15. Cited for: VARIANTS CMD1X THR-179 AND PRO-358.
  16. Cited for: VARIANT MDDGC4 GLN-307, CHARACTERIZATION OF VARIANT MDDGC4 GLN-307.
  17. Cited for: VARIANTS [LARGE SCALE ANALYSIS] GLU-225 AND ASN-225.
  18. Cited for: VARIANT MDDGB4 GLN-307.
  19. Cited for: VARIANTS MDDGA4 GLU-170 AND CYS-371, VARIANTS MDDGB4 GLY-246 AND GLN-307.
  20. "Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation."
    Puckett R.L., Moore S.A., Winder T.L., Willer T., Romansky S.G., Covault K.K., Campbell K.P., Abdenur J.E.
    Neuromuscul. Disord. 19:352-356(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MDDGC4 THR-114 AND SER-176.
  21. "Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly."
    Ismail S., Schaffer A.E., Rosti R.O., Gleeson J.G., Zaki M.S.
    Gene 539:279-282(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN MDDGA4.

Entry informationi

Entry nameiFKTN_HUMAN
AccessioniPrimary (citable) accession number: O75072
Secondary accession number(s): B4DUX9
, J3KP13, Q3MIJ1, Q96TE1, Q9P295
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: February 12, 2003
Last modified: February 4, 2015
This is version 126 of the entry and version 2 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: 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. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. 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.