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Q9H9S5

- FKRP_HUMAN

UniProt

Q9H9S5 - FKRP_HUMAN

Protein

Fukutin-related protein

Gene

FKRP

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 108 (01 Oct 2014)
      Sequence version 1 (01 Mar 2001)
      Previous versions | rss
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    Functioni

    Could be a transferase involved in the modification of glycan moieties of alpha-dystroglycan (DAG1).

    GO - Molecular functioni

    1. transferase activity Source: UniProtKB-KW

    GO - Biological processi

    1. glycoprotein biosynthetic process Source: Ensembl
    2. protein processing Source: Ensembl

    Keywords - Molecular functioni

    Transferase

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Fukutin-related protein (EC:2.-.-.-)
    Gene namesi
    Name:FKRP
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:17997. FKRP.

    Subcellular locationi

    Golgi apparatus membrane; Single-pass type II membrane protein. Secreted. Cell membranesarcolemma By similarity. Rough endoplasmic reticulum
    Note: According to some studies the N-terminal hydrophobic domain is cleaved after translocation to the Golgi apparatus and the protein is secreted. Localization at the cell membrane may require the presence of dystroglycan. At the Golgi apparatus localizes to the middle-to-trans-cisternae, as assessed by MG160 colocalization. Detected in rough endoplasmic reticulum in myocytes. In general, mutants associated with severe clinical phenotypes are retained within the endoplasmic reticulum.

    GO - Cellular componenti

    1. dystrophin-associated glycoprotein complex Source: Ensembl
    2. extracellular space Source: UniProtKB
    3. Golgi apparatus Source: UniProtKB
    4. Golgi membrane Source: UniProtKB-SubCell
    5. integral component of membrane Source: UniProtKB-KW
    6. rough endoplasmic reticulum Source: UniProtKB
    7. sarcolemma Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell membrane, Endoplasmic reticulum, Golgi apparatus, Membrane, Secreted

    Pathology & Biotechi

    Involvement in diseasei

    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5 (MDDGA5) [MIM:613153]: 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti307 – 3071Y → N in MDDGC5 and MDDGA5; muscle-eye-brain disease. 2 Publications
    VAR_022850
    Natural varianti318 – 3181C → Y in MDDGA5; severe Walker-Warburg syndrome. 1 Publication
    VAR_022852
    Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5) [MIM:606612]: A congenital muscular dystrophy characterized by a severe phenotype with inability to walk, muscle hypertrophy, marked elevation of serum creatine kinase, secondary deficiency of laminin alpha2, and a marked reduction in alpha-dystroglycan expression. Only a subset of affected individuals have brain involvements.5 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti114 – 1141A → G in MDDGB5; unknown pathological significance. 1 Publication
    Corresponds to variant rs143793528 [ dbSNP | Ensembl ].
    VAR_018280
    Natural varianti217 – 2171P → T in MDDGB5. 1 Publication
    VAR_018283
    Natural varianti221 – 2211S → R in MDDGB5; severe form; brain involvement; mental retardation and cerebellar cysts on cranial MRI. 1 Publication
    Corresponds to variant rs28937902 [ dbSNP | Ensembl ].
    VAR_018284
    Natural varianti309 – 3091Y → C in MDDGB5. 2 Publications
    VAR_018286
    Natural varianti315 – 3151P → T in MDDGB5; severe form; brain involvement; mental retardation and cerebellar cysts on cranial MRI. 1 Publication
    VAR_018288
    Natural varianti316 – 3161P → R in MDDGB5 and MDDGC5. 2 Publications
    VAR_018289
    Natural varianti328 – 3281Y → S in MDDGB5. 1 Publication
    VAR_018290
    Natural varianti339 – 3391R → H in MDDGB5. 2 Publications
    VAR_018292
    Natural varianti401 – 4011D → N in MDDGB5. 1 Publication
    VAR_018293
    Natural varianti405 – 4051V → L in MDDGB5; severe form; brain involvement; mental retardation and cerebellar cysts on cranial MRI. 1 Publication
    Corresponds to variant rs28937904 [ dbSNP | Ensembl ].
    VAR_022854
    Natural varianti448 – 4481P → L in MDDGB5; strongly reduced secretion to the medium; localizes mainly to the ER compartment. 2 Publications
    VAR_018294
    Natural varianti455 – 4551A → D in MDDGB5; severe form; brain involvement; mental retardation and cerebellar cysts on cranial MRI. 1 Publication
    Corresponds to variant rs28937903 [ dbSNP | Ensembl ].
    VAR_022855
    Natural varianti463 – 4631N → D in MDDGB5. 1 Publication
    VAR_065063
    Natural varianti465 – 4651Y → S in MDDGB5. 1 Publication
    VAR_018295
    Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155]: An autosomal recessive degenerative myopathy with age of onset ranging from childhood to adult life, and variable severity. Clinical features include proximal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency. A reduction of alpha-dystroglycan and laminin alpha-2 expression can be observed on skeletal muscle biopsy from MDDGC5 patients.5 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti54 – 541R → W in MDDGC5. 1 Publication
    Corresponds to variant rs28937905 [ dbSNP | Ensembl ].
    VAR_019272
    Natural varianti79 – 791V → M in MDDGC5. 1 Publication
    Corresponds to variant rs104894683 [ dbSNP | Ensembl ].
    VAR_065055
    Natural varianti134 – 1341R → W in MDDGC5. 1 Publication
    VAR_065056
    Natural varianti143 – 1464Missing in MDDGC5. 1 Publication
    VAR_018281
    Natural varianti143 – 1431R → S in MDDGC5. 1 Publication
    Corresponds to variant rs148206382 [ dbSNP | Ensembl ].
    VAR_018282
    Natural varianti160 – 1601V → F in MDDGC5. 1 Publication
    VAR_065057
    Natural varianti182 – 1821Y → C in MDDGC5. 1 Publication
    VAR_065058
    Natural varianti276 – 2761L → I in MDDGC5; reduced secretion to the medium; localizes mainly to the Golgi apparatus. 3 Publications
    Corresponds to variant rs28937900 [ dbSNP | Ensembl ].
    VAR_018285
    Natural varianti293 – 2931T → I in MDDGC5. 1 Publication
    VAR_065059
    Natural varianti300 – 3001V → A in MDDGC5. 1 Publication
    VAR_065060
    Natural varianti300 – 3001V → M in MDDGC5. 1 Publication
    VAR_065061
    Natural varianti307 – 3071Y → N in MDDGC5 and MDDGA5; muscle-eye-brain disease. 2 Publications
    VAR_022850
    Natural varianti312 – 3121R → C in MDDGC5. 1 Publication
    VAR_018287
    Natural varianti316 – 3161P → R in MDDGB5 and MDDGC5. 2 Publications
    VAR_018289
    Natural varianti316 – 3161P → S in MDDGC5. 1 Publication
    VAR_022851
    Natural varianti339 – 3391R → L in MDDGC5. 1 Publication
    VAR_018291
    Natural varianti358 – 3581P → L in MDDGC5. 1 Publication
    VAR_065062
    Natural varianti360 – 3601D → N in MDDGC5. 1 Publication
    VAR_022853
    Natural varianti462 – 4621P → S in MDDGC5. 1 Publication
    VAR_022856

    Keywords - Diseasei

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

    Organism-specific databases

    MIMi606612. phenotype.
    607155. phenotype.
    613153. phenotype.
    Orphaneti34515. Autosomal recessive limb-girdle muscular dystrophy type 2I.
    370959. Congenital muscular dystrophy with cerebellar involvement.
    370968. Congenital muscular dystrophy with intellectual disability.
    370980. Congenital muscular dystrophy without intellectual disability.
    588. Muscle-eye-brain disease.
    899. Walker-Warburg syndrome.
    PharmGKBiPA134976709.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 495495Fukutin-related proteinPRO_0000204723Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi6 – 6Interchain1 Publication
    Glycosylationi172 – 1721N-linked (GlcNAc...)2 Publications
    Glycosylationi209 – 2091N-linked (GlcNAc...)2 Publications

    Post-translational modificationi

    N-glycosylated.2 Publications

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    MaxQBiQ9H9S5.
    PaxDbiQ9H9S5.
    PRIDEiQ9H9S5.

    PTM databases

    PhosphoSiteiQ9H9S5.

    Expressioni

    Tissue specificityi

    Expressed predominantly in skeletal muscle, placenta, and heart and relatively weakly in brain, lung, liver kidney and pancreas.

    Gene expression databases

    ArrayExpressiQ9H9S5.
    BgeeiQ9H9S5.
    CleanExiHS_FKRP.
    GenevestigatoriQ9H9S5.

    Organism-specific databases

    HPAiHPA060454.

    Interactioni

    Subunit structurei

    May interact with the dystrophin-glycoprotein complex (DGC) By similarity. Homodimer; disulfide-linked. Exists also as large multimeric protein complexes.By similarity1 Publication

    Protein-protein interaction databases

    BioGridi122565. 1 interaction.
    STRINGi9606.ENSP00000326570.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9H9S5.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 66CytoplasmicSequence Analysis
    Topological domaini30 – 495466LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei7 – 2923HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the LicD transferase family.Curated

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG3475.
    HOGENOMiHOG000007172.
    HOVERGENiHBG048950.
    InParanoidiQ9H9S5.
    OMAiTAHARWK.
    PhylomeDBiQ9H9S5.
    TreeFamiTF324064.

    Family and domain databases

    InterProiIPR007074. LicD.
    [Graphical view]
    PfamiPF04991. LicD. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9H9S5-1 [UniParc]FASTAAdd to Basket

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    MRLTRCQAAL AAAITLNLLV LFYVSWLQHQ PRNSRARGPR RASAAGPRVT    50
    VLVREFEAFD NAVPELVDSF LQQDPAQPVV VAADTLPYPP LALPRIPNVR 100
    LALLQPALDR PAAASRPETY VATEFVALVP DGARAEAPGL LERMVEALRA 150
    GSARLVAAPV ATANPARCLA LNVSLREWTA RYGAAPAAPR CDALDGDAVV 200
    LLRARDLFNL SAPLARPVGT SLFLQTALRG WAVQLLDLTF AAARQPPLAT 250
    AHARWKAERE GRARRAALLR ALGIRLVSWE GGRLEWFGCN KETTRCFGTV 300
    VGDTPAYLYE ERWTPPCCLR ALRETARYVV GVLEAAGVRY WLEGGSLLGA 350
    ARHGDIIPWD YDVDLGIYLE DVGNCEQLRG AEAGSVVDER GFVWEKAVEG 400
    DFFRVQYSES NHLHVDLWPF YPRNGVMTKD TWLDHRQDVE FPEHFLQPLV 450
    PLPFAGFVAQ APNNYRRFLE LKFGPGVIEN PQYPNPALLS LTGSG 495
    Length:495
    Mass (Da):54,568
    Last modified:March 1, 2001 - v1
    Checksum:i8D47756C28C6F578
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti54 – 541R → W in MDDGC5. 1 Publication
    Corresponds to variant rs28937905 [ dbSNP | Ensembl ].
    VAR_019272
    Natural varianti79 – 791V → M in MDDGC5. 1 Publication
    Corresponds to variant rs104894683 [ dbSNP | Ensembl ].
    VAR_065055
    Natural varianti114 – 1141A → G in MDDGB5; unknown pathological significance. 1 Publication
    Corresponds to variant rs143793528 [ dbSNP | Ensembl ].
    VAR_018280
    Natural varianti134 – 1341R → W in MDDGC5. 1 Publication
    VAR_065056
    Natural varianti143 – 1464Missing in MDDGC5. 1 Publication
    VAR_018281
    Natural varianti143 – 1431R → S in MDDGC5. 1 Publication
    Corresponds to variant rs148206382 [ dbSNP | Ensembl ].
    VAR_018282
    Natural varianti160 – 1601V → F in MDDGC5. 1 Publication
    VAR_065057
    Natural varianti182 – 1821Y → C in MDDGC5. 1 Publication
    VAR_065058
    Natural varianti217 – 2171P → T in MDDGB5. 1 Publication
    VAR_018283
    Natural varianti221 – 2211S → R in MDDGB5; severe form; brain involvement; mental retardation and cerebellar cysts on cranial MRI. 1 Publication
    Corresponds to variant rs28937902 [ dbSNP | Ensembl ].
    VAR_018284
    Natural varianti276 – 2761L → I in MDDGC5; reduced secretion to the medium; localizes mainly to the Golgi apparatus. 3 Publications
    Corresponds to variant rs28937900 [ dbSNP | Ensembl ].
    VAR_018285
    Natural varianti293 – 2931T → I in MDDGC5. 1 Publication
    VAR_065059
    Natural varianti300 – 3001V → A in MDDGC5. 1 Publication
    VAR_065060
    Natural varianti300 – 3001V → M in MDDGC5. 1 Publication
    VAR_065061
    Natural varianti307 – 3071Y → N in MDDGC5 and MDDGA5; muscle-eye-brain disease. 2 Publications
    VAR_022850
    Natural varianti309 – 3091Y → C in MDDGB5. 2 Publications
    VAR_018286
    Natural varianti312 – 3121R → C in MDDGC5. 1 Publication
    VAR_018287
    Natural varianti315 – 3151P → T in MDDGB5; severe form; brain involvement; mental retardation and cerebellar cysts on cranial MRI. 1 Publication
    VAR_018288
    Natural varianti316 – 3161P → R in MDDGB5 and MDDGC5. 2 Publications
    VAR_018289
    Natural varianti316 – 3161P → S in MDDGC5. 1 Publication
    VAR_022851
    Natural varianti318 – 3181C → Y in MDDGA5; severe Walker-Warburg syndrome. 1 Publication
    VAR_022852
    Natural varianti328 – 3281Y → S in MDDGB5. 1 Publication
    VAR_018290
    Natural varianti339 – 3391R → H in MDDGB5. 2 Publications
    VAR_018292
    Natural varianti339 – 3391R → L in MDDGC5. 1 Publication
    VAR_018291
    Natural varianti358 – 3581P → L in MDDGC5. 1 Publication
    VAR_065062
    Natural varianti360 – 3601D → N in MDDGC5. 1 Publication
    VAR_022853
    Natural varianti401 – 4011D → N in MDDGB5. 1 Publication
    VAR_018293
    Natural varianti405 – 4051V → L in MDDGB5; severe form; brain involvement; mental retardation and cerebellar cysts on cranial MRI. 1 Publication
    Corresponds to variant rs28937904 [ dbSNP | Ensembl ].
    VAR_022854
    Natural varianti448 – 4481P → L in MDDGB5; strongly reduced secretion to the medium; localizes mainly to the ER compartment. 2 Publications
    VAR_018294
    Natural varianti455 – 4551A → D in MDDGB5; severe form; brain involvement; mental retardation and cerebellar cysts on cranial MRI. 1 Publication
    Corresponds to variant rs28937903 [ dbSNP | Ensembl ].
    VAR_022855
    Natural varianti462 – 4621P → S in MDDGC5. 1 Publication
    VAR_022856
    Natural varianti463 – 4631N → D in MDDGB5. 1 Publication
    VAR_065063
    Natural varianti465 – 4651Y → S in MDDGB5. 1 Publication
    VAR_018295

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ314847 mRNA. Translation: CAC85633.1.
    AK022638 mRNA. Translation: BAB14146.1.
    AK095497 mRNA. Translation: BAG53071.1.
    AK291282 mRNA. Translation: BAF83971.1.
    AC008622 Genomic DNA. No translation available.
    CH471126 Genomic DNA. Translation: EAW57444.1.
    BC002612 mRNA. Translation: AAH02612.1.
    CCDSiCCDS12691.1.
    RefSeqiNP_001034974.1. NM_001039885.2.
    NP_077277.1. NM_024301.4.
    XP_005259304.1. XM_005259247.1.
    XP_005259305.1. XM_005259248.1.
    XP_005259306.1. XM_005259249.2.
    XP_005259307.1. XM_005259250.2.
    XP_006723436.1. XM_006723373.1.
    XP_006723437.1. XM_006723374.1.
    XP_006723438.1. XM_006723375.1.
    UniGeneiHs.515493.

    Genome annotation databases

    EnsembliENST00000318584; ENSP00000326570; ENSG00000181027.
    ENST00000391909; ENSP00000375776; ENSG00000181027.
    GeneIDi79147.
    KEGGihsa:79147.
    UCSCiuc002pfn.2. human.

    Polymorphism databases

    DMDMi46395992.

    Cross-referencesi

    Web resourcesi

    GGDB

    GlycoGene database

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ314847 mRNA. Translation: CAC85633.1 .
    AK022638 mRNA. Translation: BAB14146.1 .
    AK095497 mRNA. Translation: BAG53071.1 .
    AK291282 mRNA. Translation: BAF83971.1 .
    AC008622 Genomic DNA. No translation available.
    CH471126 Genomic DNA. Translation: EAW57444.1 .
    BC002612 mRNA. Translation: AAH02612.1 .
    CCDSi CCDS12691.1.
    RefSeqi NP_001034974.1. NM_001039885.2.
    NP_077277.1. NM_024301.4.
    XP_005259304.1. XM_005259247.1.
    XP_005259305.1. XM_005259248.1.
    XP_005259306.1. XM_005259249.2.
    XP_005259307.1. XM_005259250.2.
    XP_006723436.1. XM_006723373.1.
    XP_006723437.1. XM_006723374.1.
    XP_006723438.1. XM_006723375.1.
    UniGenei Hs.515493.

    3D structure databases

    ProteinModelPortali Q9H9S5.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122565. 1 interaction.
    STRINGi 9606.ENSP00000326570.

    PTM databases

    PhosphoSitei Q9H9S5.

    Polymorphism databases

    DMDMi 46395992.

    Proteomic databases

    MaxQBi Q9H9S5.
    PaxDbi Q9H9S5.
    PRIDEi Q9H9S5.

    Protocols and materials databases

    DNASUi 79147.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000318584 ; ENSP00000326570 ; ENSG00000181027 .
    ENST00000391909 ; ENSP00000375776 ; ENSG00000181027 .
    GeneIDi 79147.
    KEGGi hsa:79147.
    UCSCi uc002pfn.2. human.

    Organism-specific databases

    CTDi 79147.
    GeneCardsi GC19P047249.
    GeneReviewsi FKRP.
    HGNCi HGNC:17997. FKRP.
    HPAi HPA060454.
    MIMi 606596. gene.
    606612. phenotype.
    607155. phenotype.
    613153. phenotype.
    neXtProti NX_Q9H9S5.
    Orphaneti 34515. Autosomal recessive limb-girdle muscular dystrophy type 2I.
    370959. Congenital muscular dystrophy with cerebellar involvement.
    370968. Congenital muscular dystrophy with intellectual disability.
    370980. Congenital muscular dystrophy without intellectual disability.
    588. Muscle-eye-brain disease.
    899. Walker-Warburg syndrome.
    PharmGKBi PA134976709.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG3475.
    HOGENOMi HOG000007172.
    HOVERGENi HBG048950.
    InParanoidi Q9H9S5.
    OMAi TAHARWK.
    PhylomeDBi Q9H9S5.
    TreeFami TF324064.

    Miscellaneous databases

    GenomeRNAii 79147.
    NextBioi 68051.
    PROi Q9H9S5.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9H9S5.
    Bgeei Q9H9S5.
    CleanExi HS_FKRP.
    Genevestigatori Q9H9S5.

    Family and domain databases

    InterProi IPR007074. LicD.
    [Graphical view ]
    Pfami PF04991. LicD. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan."
      Brockington M., Blake D.J., Prandini P., Brown S.C., Torelli S., Benson M.A., Ponting C.P., Estournet B., Romero N.B., Mercuri E., Voit T., Sewry C.A., Guicheney P., Muntoni F.
      Am. J. Hum. Genet. 69:1198-1209(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS MDDGB5 GLY-114; THR-217; CYS-309; ARG-316; SER-328; HIS-339; ASN-401; LEU-448 AND SER-465.
      Tissue: Brain.
    2. "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].
      Tissue: Brain.
    3. "The DNA sequence and biology of human chromosome 19."
      Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
      , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
      Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. 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].
      Tissue: Brain.
    6. "Subcellular localization of fukutin and fukutin-related protein in muscle cells."
      Matsumoto H., Noguchi S., Sugie K., Ogawa M., Murayama K., Hayashi Y.K., Nishino I.
      J. Biochem. 135:709-712(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.
    7. "Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivo."
      Keramaris-Vrantsis E., Lu P.J., Doran T., Zillmer A., Ashar J., Esapa C.T., Benson M.A., Blake D.J., Rosenfeld J., Lu Q.L.
      Muscle Nerve 36:455-465(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS ILE-276 AND LEU-448.
    8. Cited for: SUBCELLULAR LOCATION, GLYCOSYLATION, CHARACTERIZATION OF VARIANTS ILE-276 AND LEU-448.
    9. "Fukutin-related protein resides in the Golgi cisternae of skeletal muscle fibres and forms disulfide-linked homodimers via an N-Terminal interaction."
      Alhamidi M., Kjeldsen Buvang E., Fagerheim T., Brox V., Lindal S., Van Ghelue M., Nilssen O.
      PLoS ONE 6:E22968-E22968(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, GLYCOSYLATION AT ASN-172 AND ASN-209, SUBUNIT, DISULFIDE BOND.
    10. Cited for: INVOLVEMENT IN MDDGC5.
    11. "Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C."
      Brockington M., Yuva Y., Prandini P., Brown S.C., Torelli S., Benson M.A., Herrmann R., Anderson L.V.B., Bashir R., Burgunder J.-M., Fallet S., Romero N., Fardeau M., Straub V., Storey G., Pollitt C., Richard I., Sewry C.A.
      , Bushby K., Voit T., Blake D.J., Muntoni F.
      Hum. Mol. Genet. 10:2851-2859(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MDDGC5 143-ARG--GLU-146 DEL; SER-143; ILE-276; CYS-312; ARG-316 AND LEU-339.
    12. Cited for: VARIANTS MDDGB5 CYS-309; HIS-339 AND LEU-448, VARIANTS MDDGC5 ILE-276; ASN-307; SER-316; ASN-360 AND SER-462.
    13. "Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum."
      de Paula F., Vieira N., Starling A., Yamamoto L.U., Lima B., de Cassia Pavanello R., Vainzof M., Nigro V., Zatz M.
      Eur. J. Hum. Genet. 11:923-930(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MDDGC5 MET-79; TRP-134; PHE-160; CYS-182; ILE-276; ILE-293; ALA-300; MET-300 AND LEU-358.
    14. "FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts."
      Topaloglu H., Brockington M., Yuva Y., Talim B., Haliloglu G., Blake D.J., Torelli S., Brown S.C., Muntoni F.
      Neurology 60:988-992(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MDDGB5 ARG-221 AND THR-315.
    15. "Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation."
      Harel T., Goldberg Y., Shalev S.A., Chervinski I., Ofir R., Birk O.S.
      Eur. J. Hum. Genet. 12:38-43(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MDDGC5 TRP-54.
    16. Cited for: VARIANTS MDDGA5 ASN-307 AND TYR-318.
    17. "New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families."
      Louhichi N., Triki C., Quijano-Roy S., Richard P., Makri S., Meziou M., Estournet B., Mrad S., Romero N.B., Ayadi H., Guicheney P., Fakhfakh F.
      Neurogenetics 5:27-34(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MDDGB5 LEU-405 AND ASP-455.
    18. "A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex."
      MacLeod H., Pytel P., Wollmann R., Chelmicka-Schorr E., Silver K., Anderson R.B., Waggoner D., McNally E.M.
      Neuromuscul. Disord. 17:285-289(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MDDGB5 ASP-463.

    Entry informationi

    Entry nameiFKRP_HUMAN
    AccessioniPrimary (citable) accession number: Q9H9S5
    Secondary accession number(s): A8K5G7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 13, 2004
    Last sequence update: March 1, 2001
    Last modified: October 1, 2014
    This is version 108 of the entry and version 1 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 19
      Human chromosome 19: 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