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O75072

- FKTN_HUMAN

UniProt

O75072 - FKTN_HUMAN

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Protein

Fukutin

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

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. regulation of protein glycosylation Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Transferase

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: Chromosome 9

Organism-specific databases

HGNCiHGNC:3622. FKTN.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 77Cytoplasmic Reviewed prediction
Transmembranei8 – 2821Helical; Signal-anchor for type II membrane protein; Reviewed predictionAdd
BLAST
Topological domaini29 – 461433Lumenal Reviewed predictionAdd
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: BHF-UCL
  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) [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.7 Publications
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) [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.8 Publications
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) [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.6 Publications
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) [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.5 Publications
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...) Reviewed prediction

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

ArrayExpressiO75072.
BgeeiO75072.
CleanExiHS_FKTN.
GenevestigatoriO75072.

Organism-specific databases

HPAiHPA012820.

Interactioni

Protein-protein interaction databases

BioGridi108512. 1 interaction.
STRINGi9606.ENSP00000223528.

Structurei

3D structure databases

ProteinModelPortaliO75072.

Family & Domainsi

Sequence similaritiesi

Belongs to the LicD transferase family.

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG83383.
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. Align

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

MSRINKNVVL ALLTLTSSAF LLFQLYYYKH YLSTKNGAGL SKSKGSRIGF    50
DSTQWRAVKK FIMLTSNQNV PVFLIDPLIL ELINKNFEQV KNTSHGSTSQ 100
CKFFCVPRDF TAFALQYHLW KNEEGWFRIA ENMGFQCLKI ESKDPRLDGI 150
DSLSGTEIPL HYICKLATHA IHLVVFHERS GNYLWHGHLR LKEHIDRKFV 200
PFRKLQFGRY PGAFDRPELQ QVTVDGLEVL IPKDPMHFVE EVPHSRFIEC 250
RYKEARAFFQ QYLDDNTVEA VAFRKSAKEL LQLAAKTLNK LGVPFWLSSG 300
TCLGWYRQCN IIPYSKDVDL GIFIQDYKSD IILAFQDAGL PLKHKFGKVE 350
DSLELSFQGK DDVKLDVFFF YEETDHMWNG GTQAKTGKKF KYLFPKFTLC 400
WTEFVDMKVH VPCETLEYIE ANYGKTWKIP VKTWDWKRSP PNVQPNGIWP 450
ISEWDEVIQL Y 461
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

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. VSP_045961Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti414 – 4141E → K in BAG62491. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS6766.1. [O75072-1 ]
RefSeqi NP_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 ]
UniGenei Hs.55777.

3D structure databases

ProteinModelPortali O75072.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108512. 1 interaction.
STRINGi 9606.ENSP00000223528.

PTM databases

PhosphoSitei O75072.

Proteomic databases

MaxQBi O75072.
PaxDbi O75072.
PRIDEi O75072.

Protocols and materials databases

DNASUi 2218.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000223528 ; ENSP00000223528 ; ENSG00000106692 . [O75072-1 ]
ENST00000357998 ; ENSP00000350687 ; ENSG00000106692 . [O75072-2 ]
ENST00000448551 ; ENSP00000399140 ; ENSG00000106692 . [O75072-2 ]
ENST00000602661 ; ENSP00000473540 ; ENSG00000106692 . [O75072-1 ]
GeneIDi 2218.
KEGGi hsa:2218.
UCSCi uc004bcr.3. human. [O75072-1 ]

Organism-specific databases

CTDi 2218.
GeneCardsi GC09P108320.
GeneReviewsi FKTN.
HGNCi HGNC:3622. FKTN.
HPAi HPA012820.
MIMi 253800. phenotype.
607440. gene.
611588. phenotype.
611615. phenotype.
613152. phenotype.
neXtProti NX_O75072.
Orphaneti 206554. 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.
PharmGKBi PA162388669.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG83383.
HOGENOMi HOG000231657.
HOVERGENi HBG005068.
InParanoidi O75072.
OMAi PVKTWDW.
OrthoDBi EOG7M6D86.
PhylomeDBi O75072.
TreeFami TF319633.

Miscellaneous databases

GeneWikii Fukutin.
GenomeRNAii 2218.
NextBioi 35535038.
PROi O75072.
SOURCEi Search...

Gene expression databases

ArrayExpressi O75072.
Bgeei O75072.
CleanExi HS_FKTN.
Genevestigatori O75072.

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] (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. 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(2001) [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(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN MDDGB4, VARIANT SER-125.
  12. 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. Cited for: VARIANTS CMD1X THR-179 AND PRO-358.
  15. Cited for: VARIANT MDDGC4 GLN-307, CHARACTERIZATION OF VARIANT MDDGC4 GLN-307.
  16. Cited for: VARIANTS [LARGE SCALE ANALYSIS] GLU-225 AND ASN-225.
  17. Cited for: VARIANT MDDGB4 GLN-307.
  18. 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.

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: July 9, 2014
This is version 121 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi