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Q9H9S5

- FKRP_HUMAN

UniProt

Q9H9S5 - FKRP_HUMAN

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Protein

Fukutin-related protein

Gene

FKRP

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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
Complete GO annotation...

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.

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 66CytoplasmicSequence Analysis
Transmembranei7 – 2923HelicalSequence AnalysisAdd
BLAST
Topological domaini30 – 495466LumenalSequence AnalysisAdd
BLAST

GO - Cellular componenti

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

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...)1 Publication
Glycosylationi209 – 2091N-linked (GlcNAc...)1 Publication

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

BgeeiQ9H9S5.
CleanExiHS_FKRP.
ExpressionAtlasiQ9H9S5. baseline and differential.
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. 7 interactions.
STRINGi9606.ENSP00000326570.

Structurei

3D structure databases

ProteinModelPortaliQ9H9S5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the LicD transferase family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG3475.
GeneTreeiENSGT00390000017583.
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

« Hide

        10         20         30         40         50
MRLTRCQAAL AAAITLNLLV LFYVSWLQHQ PRNSRARGPR RASAAGPRVT
60 70 80 90 100
VLVREFEAFD NAVPELVDSF LQQDPAQPVV VAADTLPYPP LALPRIPNVR
110 120 130 140 150
LALLQPALDR PAAASRPETY VATEFVALVP DGARAEAPGL LERMVEALRA
160 170 180 190 200
GSARLVAAPV ATANPARCLA LNVSLREWTA RYGAAPAAPR CDALDGDAVV
210 220 230 240 250
LLRARDLFNL SAPLARPVGT SLFLQTALRG WAVQLLDLTF AAARQPPLAT
260 270 280 290 300
AHARWKAERE GRARRAALLR ALGIRLVSWE GGRLEWFGCN KETTRCFGTV
310 320 330 340 350
VGDTPAYLYE ERWTPPCCLR ALRETARYVV GVLEAAGVRY WLEGGSLLGA
360 370 380 390 400
ARHGDIIPWD YDVDLGIYLE DVGNCEQLRG AEAGSVVDER GFVWEKAVEG
410 420 430 440 450
DFFRVQYSES NHLHVDLWPF YPRNGVMTKD TWLDHRQDVE FPEHFLQPLV
460 470 480 490
PLPFAGFVAQ APNNYRRFLE LKFGPGVIEN PQYPNPALLS LTGSG
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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. 7 interactions.
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.
GeneTreei ENSGT00390000017583.
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

Bgeei Q9H9S5.
CleanExi HS_FKRP.
ExpressionAtlasi Q9H9S5. baseline and differential.
Genevestigatori Q9H9S5.

Family and domain databases

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

Publicationsi

« Hide 'large scale' publications
  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 29, 2014
This is version 109 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

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