O75072 (FKTN_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Fukutin
EC=2.-.-.-

Alternative name(s):
Fukuyama-type congenital muscular dystrophy protein

Gene names

Name:	FKTN
Synonyms:	FCMD

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	461 AA.
Sequence status	Complete.
Protein existence	Evidence 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 component	Golgi apparatus Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Cardiomyopathy Congenital muscular dystrophy Disease mutation Limb-girdle muscular dystrophy Lissencephaly
Domain	Signal-anchor Transmembrane Transmembrane helix
Molecular function	Transferase
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	muscle 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_component	Golgi 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 to membrane Inferred from electronic annotation. Source: UniProtKB-KW nucleus Inferred from direct assay PubMed 18808525. Source: BHF-UCL
Molecular_function	transferase 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 461	461	Fukutin		PRO_0000204720
Regions
	Topological domain	1 – 7	7	Cytoplasmic Potential
	Transmembrane	8 – 28	21	Helical; Signal-anchor for type II membrane protein; Potential
	Topological domain	29 – 461	433	Lumenal Potential
Amino acid modifications
	Glycosylation	92	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	426 – 461	36	TWKIP…VIQLY → NQQGA in isoform 2.		VSP_045961
	Natural variant	56	1	R → C. Corresponds to variant rs41277797 [ dbSNP | Ensembl ].		VAR_061296
	Natural variant	114	1	A → T in MDDGC4. Ref.19		VAR_065050
	Natural variant	125	1	G → S in a patient diagnosed with Walker-Warburg syndrome. Ref.11 Corresponds to variant rs34006675 [ dbSNP | Ensembl ].		VAR_033926
	Natural variant	170	1	A → E in MDDGA4. Ref.18		VAR_065051
	Natural variant	176	1	F → S in MDDGC4. Ref.19		VAR_065052
	Natural variant	179	1	R → T in CMD1X. Ref.14		VAR_039287
	Natural variant	203	1	R → Q. Ref.1 Corresponds to variant rs34787999 [ dbSNP | Ensembl ].		VAR_033927
	Natural variant	225	1	D → E in a breast cancer sample; somatic mutation. Ref.16		VAR_036334
	Natural variant	225	1	D → N in a breast cancer sample; somatic mutation. Ref.16		VAR_036335
	Natural variant	246	1	R → G in MDDGB4; detected in a compound heterozygote with very mild phenotype carrying a non-sense mutation. Ref.18		VAR_065053
	Natural variant	250	1	C → G in MDDGA4. Ref.13		VAR_018278
	Natural variant	307	1	R → 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 variant	358	1	Q → P in CMD1X. Ref.14		VAR_039289
	Natural variant	371	1	Y → C in MDDGA4. Ref.18		VAR_065054
	Natural variant	446	1	N → D. Ref.10 Corresponds to variant rs41313301 [ dbSNP | Ensembl ].		VAR_018279
Experimental info
	Sequence conflict	414	1	E → K in BAG62491. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified February 12, 2003. Version 2. Checksum: 2D11F28E4BCCD858	FASTA	461	53,724
	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
	Isoform 2 [UniParc]. Checksum: 02A2C72C4FFAEE1C	FASTA	430	49,832
	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 ANYGKNQQGA

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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. , 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. , 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.
IPI	IPI00306835.
RefSeq	NP_001073270.1. NM_001079802.1. NP_001185892.1. NM_001198963.1. NP_006722.2. NM_006731.2.
UniGene	Hs.55777.
3D structure databases
ProteinModelPortal	O75072.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000223528.
PTM databases
PhosphoSite	O75072.
Proteomic databases
PaxDb	O75072.
PRIDE	O75072.
Protocols and materials databases
DNASU	2218.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000223528; ENSP00000223528; ENSG00000106692. ENST00000357998; ENSP00000350687; ENSG00000106692.
GeneID	2218.
KEGG	hsa:2218.
UCSC	uc004bcr.3. human.
Organism-specific databases
CTD	2218.
GeneCards	GC09P108320.
HGNC	HGNC:3622. FKTN.
HPA	HPA012820.
MIM	253800. phenotype. 607440. gene. 611588. phenotype. 611615. phenotype. 613152. phenotype.
neXtProt	NX_O75072.
Orphanet	206554. Autosomal recessive limb-girdle muscular dystrophy type 2M. 272. Congenital muscular dystrophy, Fukuyama type. 154. Familial isolated dilated cardiomyopathy. 899. Walker-Warburg syndrome.
PharmGKB	PA162388669.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG83383.
HOGENOM	HOG000231657.
HOVERGEN	HBG005068.
InParanoid	O75072.
OMA	FQLYYYK.
OrthoDB	EOG4X97H4.
PhylomeDB	O75072.
Gene expression databases
ArrayExpress	O75072.
Bgee	O75072.
CleanEx	HS_FKTN.
Genevestigator	O75072.
Family and domain databases
InterPro	IPR009644. Fukutin-related. IPR007074. LicD. [Graphical view]
PANTHER	PTHR15407. PTHR15407. 1 hit.
Pfam	PF04991. LicD. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	2218.
NextBio	35535038.
SOURCE	Search...

Entry information

Entry name

FKTN_HUMAN

Accession

Primary (citable) accession number: O75072
Secondary accession number(s): B4DUX9 , J3KP13, Q3MIJ1, Q96TE1, Q9P295

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 21, 2001
Last sequence update:	February 12, 2003
Last modified:	May 1, 2013
This is version 110 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.