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O75072 (FKTN_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 119. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Fukutin

EC=2.-.-.-
Alternative name(s):
Fukuyama-type congenital muscular dystrophy protein
Gene names
Name:FKTN
Synonyms:FCMD
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length461 AA.
Sequence statusComplete.
Protein existenceEvidence at protein 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.8

Subcellular location

Golgi apparatus membrane; Single-pass type II membrane protein By similarity.

Tissue specificity

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. Ref.7

Involvement in disease

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4 (MDDGA4) [MIM:253800]: An 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6 Ref.7 Ref.8 Ref.9 Ref.12 Ref.13 Ref.18

Muscular dystrophy-dystroglycanopathy congenital without mental retardation B4 (MDDGB4) [MIM:613152]: An 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6 Ref.7 Ref.8 Ref.9 Ref.10 Ref.11 Ref.17 Ref.18

Muscular dystrophy-dystroglycanopathy limb-girdle C4 (MDDGC4) [MIM:611588]: An 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6 Ref.7 Ref.8 Ref.9 Ref.15 Ref.19

Cardiomyopathy, dilated 1X (CMD1X) [MIM:611615]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6 Ref.7 Ref.8 Ref.9 Ref.14

Sequence similarities

Belongs to the LicD transferase family.

Ontologies

Keywords
   Cellular componentGolgi apparatus
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseCardiomyopathy
Congenital muscular dystrophy
Disease mutation
Dystroglycanopathy
Limb-girdle muscular dystrophy
Lissencephaly
   DomainSignal-anchor
Transmembrane
Transmembrane helix
   Molecular functionTransferase
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processmuscle organ development

Traceable author statement Ref.1. Source: ProtInc

negative regulation of JNK cascade

Inferred from mutant phenotype PubMed 18808525. Source: BHF-UCL

negative regulation of cell proliferation

Inferred from mutant phenotype PubMed 18808525. Source: BHF-UCL

nervous system development

Traceable author statement Ref.1. Source: ProtInc

regulation of protein glycosylation

Non-traceable author statement PubMed 18808525. Source: BHF-UCL

   Cellular_componentGolgi apparatus

Inferred from direct assay PubMed 18808525. Source: BHF-UCL

Golgi membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

cis-Golgi network

Inferred from direct assay PubMed 15213246. Source: UniProtKB

endoplasmic reticulum

Inferred from direct assay PubMed 18808525. Source: BHF-UCL

extracellular space

Traceable author statement Ref.1. Source: ProtInc

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

nucleus

Inferred from direct assay PubMed 18808525. Source: BHF-UCL

   Molecular_functiontransferase activity

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O75072-1)

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.
Isoform 2 (identifier: O75072-2)

The sequence of this isoform differs from the canonical sequence as follows:
     426-461: TWKIPVKTWDWKRSPPNVQPNGIWPISEWDEVIQLY → NQQGA
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 461461Fukutin
PRO_0000204720

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

Natural variations

Alternative sequence426 – 46136TWKIP…VIQLY → NQQGA in isoform 2.
VSP_045961
Natural variant561R → C.
Corresponds to variant rs41277797 [ dbSNP | Ensembl ].
VAR_061296
Natural variant1141A → T in MDDGC4. Ref.19
VAR_065050
Natural variant1251G → S in a patient diagnosed with Walker-Warburg syndrome. Ref.11
Corresponds to variant rs34006675 [ dbSNP | Ensembl ].
VAR_033926
Natural variant1701A → E in MDDGA4. Ref.18
VAR_065051
Natural variant1761F → S in MDDGC4. Ref.19
VAR_065052
Natural variant1791R → T in CMD1X. Ref.14
VAR_039287
Natural variant2031R → Q. Ref.1
Corresponds to variant rs34787999 [ dbSNP | Ensembl ].
VAR_033927
Natural variant2251D → E in a breast cancer sample; somatic mutation. Ref.16
VAR_036334
Natural variant2251D → N in a breast cancer sample; somatic mutation. Ref.16
VAR_036335
Natural variant2461R → G in MDDGB4; detected in a compound heterozygote with very mild phenotype carrying a non-sense mutation. Ref.18
VAR_065053
Natural variant2501C → G in MDDGA4. Ref.13
VAR_018278
Natural variant3071R → Q in MDDGB4 and MDDGC4; the mutant protein is expressed and localized correctly within the cell. Ref.15 Ref.17 Ref.18
VAR_039288
Natural variant3581Q → P in CMD1X. Ref.14
VAR_039289
Natural variant3711Y → C in MDDGA4. Ref.18
VAR_065054
Natural variant4461N → D. Ref.10
Corresponds to variant rs41313301 [ dbSNP | Ensembl ].
VAR_018279

Experimental info

Sequence conflict4141E → K in BAG62491. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified February 12, 2003. Version 2.
Checksum: 2D11F28E4BCCD858

FASTA46153,724
        10         20         30         40         50         60 
MSRINKNVVL ALLTLTSSAF LLFQLYYYKH YLSTKNGAGL SKSKGSRIGF DSTQWRAVKK 

        70         80         90        100        110        120 
FIMLTSNQNV PVFLIDPLIL ELINKNFEQV KNTSHGSTSQ CKFFCVPRDF TAFALQYHLW 

       130        140        150        160        170        180 
KNEEGWFRIA ENMGFQCLKI ESKDPRLDGI DSLSGTEIPL HYICKLATHA IHLVVFHERS 

       190        200        210        220        230        240 
GNYLWHGHLR LKEHIDRKFV PFRKLQFGRY PGAFDRPELQ QVTVDGLEVL IPKDPMHFVE 

       250        260        270        280        290        300 
EVPHSRFIEC RYKEARAFFQ QYLDDNTVEA VAFRKSAKEL LQLAAKTLNK LGVPFWLSSG 

       310        320        330        340        350        360 
TCLGWYRQCN IIPYSKDVDL GIFIQDYKSD IILAFQDAGL PLKHKFGKVE DSLELSFQGK 

       370        380        390        400        410        420 
DDVKLDVFFF YEETDHMWNG GTQAKTGKKF KYLFPKFTLC WTEFVDMKVH VPCETLEYIE 

       430        440        450        460 
ANYGKTWKIP VKTWDWKRSP PNVQPNGIWP ISEWDEVIQL Y 

« Hide

Isoform 2 [UniParc].

Checksum: 02A2C72C4FFAEE1C
Show »

FASTA43049,832

References

« Hide 'large scale' references
[1]"An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy."
Kobayashi K., Nakahori Y., Miyake M., Matsumura K., Kondo-Iida E., Nomura Y., Segawa M., Yoshioka M., Saito K., Osawa M., Hamano K., Sakakihara Y., Nonaka I., Nakagome Y., Kanazawa I., Nakamura Y., Tokunaga K., Toda T.
Nature 394:388-392(1998) [PubMed] [Europe PMC] [Abstract]
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(2001) [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. expand/collapse author list , 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(2004) [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. expand/collapse author list , 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(2004) [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(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[6]"Haplotype-phenotype correlation in Fukuyama congenital muscular dystrophy."
Saito K., Osawa M., Wang Z.-P., Ikeya K., Fukuyama Y., Kondo-Iida E., Toda T., Ohashi H., Kurosawa K., Wakai S., Kaneko K.
Am. J. Med. Genet. 92:184-190(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: DISEASE.
[7]"Neuronal expression of the fukutin gene."
Sasaki J., Ishikawa K., Kobayashi K., Kondo-Iida E., Fukayama M., Mizusawa H., Takashima S., Sakakihara Y., Nakamura Y., Toda T.
Hum. Mol. Genet. 9:3083-3090(2000) [PubMed] [Europe PMC] [Abstract]
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(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: DISEASE, POSSIBLE FUNCTION.
[9]"A new mutation of the fukutin gene in a non-Japanese patient."
Silan F., Yoshioka M., Kobayashi K., Simsek E., Tunc M., Alper M., Cam M., Guven A., Fukuda Y., Kinoshita M., Kocabay K., Toda T.
Ann. Neurol. 53:392-396(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: DISEASE.
[10]"A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype."
Beltran-Valero de Bernabe D., van Bokhoven H., van Beusekom E., Van den Akker W., Kant S., Dobyns W.B., Cormand B., Currier S., Hamel B.C.J., Talim B., Topaloglu H., Brunner H.G.
J. Med. Genet. 40:845-848(2003) [PubMed] [Europe PMC] [Abstract]
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(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN MDDGB4, VARIANT SER-125.
[12]"Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome."
Manzini M.C., Tambunan D.E., Hill R.S., Yu T.W., Maynard T.M., Heinzen E.L., Shianna K.V., Stevens C.R., Partlow J.N., Barry B.J., Rodriguez J., Gupta V.A., Al-Qudah A.K., Eyaid W.M., Friedman J.M., Salih M.A., Clark R., Moroni I. expand/collapse author list , Mora M., Beggs A.H., Gabriel S.B., Walsh C.A.
Am. J. Hum. Genet. 91:541-547(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN MDDGA4.
[13]"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(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MDDGA4 GLY-250.
[14]"Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness."
Murakami T., Hayashi Y.K., Noguchi S., Ogawa M., Nonaka I., Tanabe Y., Ogino M., Takada F., Eriguchi M., Kotooka N., Campbell K.P., Osawa M., Nishino I.
Ann. Neurol. 60:597-602(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMD1X THR-179 AND PRO-358.
[15]"Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy."
Godfrey C., Escolar D., Brockington M., Clement E.M., Mein R., Jimenez-Mallebrera C., Torelli S., Feng L., Brown S.C., Sewry C.A., Rutherford M., Shapira Y., Abbs S., Muntoni F.
Ann. Neurol. 60:603-610(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MDDGC4 GLN-307, CHARACTERIZATION OF VARIANT MDDGC4 GLN-307.
[16]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS [LARGE SCALE ANALYSIS] GLU-225 AND ASN-225.
[17]"Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study."
Mercuri E., Messina S., Bruno C., Mora M., Pegoraro E., Comi G.P., D'Amico A., Aiello C., Biancheri R., Berardinelli A., Boffi P., Cassandrini D., Laverda A., Moggio M., Morandi L., Moroni I., Pane M., Pezzani R. expand/collapse author list , Pichiecchio A., Pini A., Minetti C., Mongini T., Mottarelli E., Ricci E., Ruggieri A., Saredi S., Scuderi C., Tessa A., Toscano A., Tortorella G., Trevisan C.P., Uggetti C., Vasco G., Santorelli F.M., Bertini E.
Neurology 72:1802-1809(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MDDGB4 GLN-307.
[18]"Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype."
Vuillaumier-Barrot S., Quijano-Roy S., Bouchet-Seraphin C., Maugenre S., Peudenier S., Van den Bergh P., Marcorelles P., Avila-Smirnow D., Chelbi M., Romero N.B., Carlier R.Y., Estournet B., Guicheney P., Seta N.
Neuromuscul. Disord. 19:182-188(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MDDGA4 GLU-170 AND CYS-371, VARIANTS MDDGB4 GLY-246 AND GLN-307.
[19]"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(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MDDGC4 THR-114 AND SER-176.
+Additional computationally mapped references.

Web resources

GeneReviews
GGDB

GlycoGene database

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001073270.1. NM_001079802.1.
NP_001185892.1. NM_001198963.1.
NP_006722.2. NM_006731.2.
XP_005251860.1. XM_005251803.1.
XP_005251861.1. XM_005251804.2.
UniGeneHs.55777.

3D structure databases

ProteinModelPortalO75072.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108512. 1 interaction.
STRING9606.ENSP00000223528.

PTM databases

PhosphoSiteO75072.

Proteomic databases

PaxDbO75072.
PRIDEO75072.

Protocols and materials databases

DNASU2218.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000223528; ENSP00000223528; ENSG00000106692. [O75072-1]
ENST00000357998; ENSP00000350687; ENSG00000106692. [O75072-2]
ENST00000448551; ENSP00000399140; ENSG00000106692. [O75072-2]
ENST00000602661; ENSP00000473540; ENSG00000106692. [O75072-1]
GeneID2218.
KEGGhsa:2218.
UCSCuc004bcr.3. human. [O75072-1]

Organism-specific databases

CTD2218.
GeneCardsGC09P108320.
HGNCHGNC:3622. FKTN.
HPAHPA012820.
MIM253800. phenotype.
607440. gene.
611588. phenotype.
611615. phenotype.
613152. phenotype.
neXtProtNX_O75072.
Orphanet206554. 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.
PharmGKBPA162388669.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG83383.
HOGENOMHOG000231657.
HOVERGENHBG005068.
InParanoidO75072.
OMAPVKTWDW.
OrthoDBEOG7M6D86.
PhylomeDBO75072.
TreeFamTF319633.

Gene expression databases

ArrayExpressO75072.
BgeeO75072.
CleanExHS_FKTN.
GenevestigatorO75072.

Family and domain databases

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

Other

GeneWikiFukutin.
GenomeRNAi2218.
NextBio35535038.
PROO75072.
SOURCESearch...

Entry information

Entry nameFKTN_HUMAN
AccessionPrimary (citable) accession number: O75072
Secondary accession number(s): B4DUX9 expand/collapse secondary AC list , J3KP13, Q3MIJ1, Q96TE1, Q9P295
Entry history
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: February 12, 2003
Last modified: April 16, 2014
This is version 119 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM