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O75072

- FKTN_HUMAN

UniProt

O75072 - FKTN_HUMAN

Protein

Fukutin

Gene

FKTN

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 122 (01 Oct 2014)
      Sequence version 2 (12 Feb 2003)
      Previous versions | rss
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    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.

    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

    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

    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

    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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.4 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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

    ArrayExpressiO75072.
    BgeeiO75072.
    CleanExiHS_FKTN.
    GenevestigatoriO75072.

    Organism-specific databases

    HPAiHPA012820.

    Interactioni

    Protein-protein interaction databases

    BioGridi108512. 1 interaction.
    STRINGi9606.ENSP00000223528.

    Structurei

    3D structure databases

    ProteinModelPortaliO75072.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 77CytoplasmicSequence Analysis
    Topological domaini29 – 461433LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei8 – 2821Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the LicD transferase family.Curated

    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

    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:
    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

    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: October 1, 2014
    This is version 122 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