UniProtKB - Q8CG64 (FKRP_MOUSE)
Ribitol 5-phosphate transferase FKRP
Fkrp
Functioni
Catalyzes the transfer of CDP-ribitol to ribitol 5-phosphate previously attached by FKTN/fukutin of to the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1) (PubMed:26923585).
This constitutes the second step in the formation of the ribose 5-phosphate tandem repeat which links the phosphorylated O-mannosyl trisaccharide to the ligand binding moiety composed of repeats of 3-xylosyl-alpha-1,3-glucuronic acid-beta-1 (PubMed:26923585).
1 PublicationCatalytic activityi
- 3-O-[Rib-ol-P-3-β-D-GalNAc-(1→3)-β-D-GlcNAc-(1→4)-(O-6-P-α-D-Man)]-Thr-[protein] + CDP-L-ribitol = 3-O-[Rib-ol-P-Rib-ol-P-3-β-D-GalNAc-(1→3)-β-D-GlcNAc-(1→4)-(O-6-P-α-D-Man)]-Thr-[protein] + CMP + H+1 PublicationThis reaction proceeds in the forward1 Publication direction.
: protein glycosylation Pathwayi
This protein is involved in the pathway protein glycosylation, which is part of Protein modification.1 PublicationView all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Metal bindingi | 289 | ZincBy similarity | 1 | |
Metal bindingi | 296 | ZincBy similarity | 1 | |
Metal bindingi | 317 | ZincBy similarity | 1 | |
Metal bindingi | 318 | ZincBy similarity | 1 | |
Binding sitei | 345 | CDP-L-ribitol; via amide nitrogenBy similarity | 1 | |
Binding sitei | 352 | CDP-L-ribitolBy similarity | 1 | |
Metal bindingi | 360 | MagnesiumBy similarity | 1 | |
Metal bindingi | 362 | MagnesiumBy similarity | 1 | |
Metal bindingi | 364 | MagnesiumBy similarity | 1 |
GO - Molecular functioni
- dystroglycan binding Source: UniProtKB
- identical protein binding Source: MGI
- phosphotransferase activity, for other substituted phosphate groups Source: UniProtKB
GO - Biological processi
- glycoprotein biosynthetic process Source: MGI
- protein O-linked mannosylation Source: UniProtKB
- protein processing Source: MGI
- protein tetramerization Source: Ensembl
Keywordsi
Molecular function | Transferase |
Ligand | Magnesium, Metal-binding, Zinc |
Enzyme and pathway databases
UniPathwayi | UPA00378 |
Names & Taxonomyi
Protein namesi | |
Gene namesi | Name:FkrpImported |
Organismi | Mus musculus (Mouse) |
Taxonomic identifieri | 10090 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Myomorpha › Muroidea › Muridae › Murinae › Mus › Mus |
Proteomesi |
|
Organism-specific databases
MGIi | MGI:2447586, Fkrp |
VEuPathDBi | HostDB:ENSMUSG00000048920 |
Subcellular locationi
Plasma membrane
- sarcolemma 1 Publication
Cytoplasm and Cytosol
- Cytoplasm 1 Publication
Golgi apparatus
- Golgi apparatus membrane 3 Publications; Single-pass type II membrane protein Curated
Endoplasmic reticulum
- Rough endoplasmic reticulum By similarity
Extracellular region or secreted
- Secreted 1 Publication
Note: The N-terminal hydrophobic domain is cleaved after translocation to the Golgi apparatus and the protein is secreted (PubMed:19900540). Localization at the cell membrane may require the presence of dystroglycan (PubMed:17452335). At the Golgi apparatus localizes to the middle-to-trans-cisternae (PubMed:12471058, PubMed:17554798). Detected in rough endoplasmic reticulum in myocytes (By similarity).By similarity4 Publications
Cytosol
- cytosol Source: MGI
Endoplasmic reticulum
- rough endoplasmic reticulum Source: MGI
Extracellular region or secreted
- extracellular space Source: UniProtKB
Golgi apparatus
- Golgi apparatus Source: MGI
- Golgi membrane Source: UniProtKB
Nucleus
- nucleoplasm Source: MGI
Plasma Membrane
- sarcolemma Source: UniProtKB
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 6 | CytoplasmicSequence analysis | 6 | |
Transmembranei | 7 – 29 | HelicalSequence analysisAdd BLAST | 23 | |
Topological domaini | 30 – 494 | LumenalSequence analysisAdd BLAST | 465 |
Keywords - Cellular componenti
Cell membrane, Cytoplasm, Endoplasmic reticulum, Golgi apparatus, Membrane, SecretedPathology & Biotechi
Disruption phenotypei
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 2 – 5 | RLTR → ELTE: Localized to the perinuclear region but not retained in or targeted to the medial part of the Golgi apparatus. 1 Publication | 4 | |
Mutagenesisi | 276 | L → I: Reduced secretion to the medium; localizes mainly to the Golgi apparatus. Mild dystrophy with reduced alpha-dystroglycan glycosylation and no apparent brain defects. 3 Publications | 1 | |
Mutagenesisi | 318 | C → Y: Reduced secretion to the medium. 1 Publication | 1 | |
Mutagenesisi | 362 – 364 | DVD → NNN: Does not alter dystroglycan processing in vitro. 1 Publication | 3 | |
Mutagenesisi | 405 | V → L: Localizes mainly to the ER compartment. 1 Publication | 1 | |
Mutagenesisi | 448 | P → L: Not properly targeted to the Golgi apparatus; strongly reduced secretion to the medium; localizes mainly to the ER compartment. Strongly impaired glycosylation of alpha-dystroglycan in muscles and brain. 5 Publications | 1 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000204724 | 1 – 494 | Ribitol 5-phosphate transferase FKRPAdd BLAST | 494 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 6 | Interchain | ||
Disulfide bondi | 168 ↔ 191 | By similarity | ||
Glycosylationi | 172 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 209 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Post-translational modificationi
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
MaxQBi | Q8CG64 |
PaxDbi | Q8CG64 |
PRIDEi | Q8CG64 |
ProteomicsDBi | 271771 |
PTM databases
GlyGeni | Q8CG64, 2 sites |
PhosphoSitePlusi | Q8CG64 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSMUSG00000048920, Expressed in quadriceps femoris and 264 other tissues |
Genevisiblei | Q8CG64, MM |
Interactioni
Subunit structurei
Homodimer; disulfide-linked (By similarity).
Forms a complex composed of FKRP, FKTN/fukutin, and RXYLT1/TMEM5 (By similarity). Exists also as large multimeric protein complexes (By similarity). May interact with the dystrophin-glycoprotein complex (DGC) (PubMed:17452335).
By similarity1 PublicationGO - Molecular functioni
- dystroglycan binding Source: UniProtKB
- identical protein binding Source: MGI
Protein-protein interaction databases
BioGRIDi | 232568, 1 interactor |
STRINGi | 10090.ENSMUSP00000059091 |
Miscellaneous databases
RNActi | Q8CG64, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 289 – 318 | Zinc finger loopBy similarityAdd BLAST | 30 | |
Regioni | 359 – 364 | CDP-L-ribitolBy similarity | 6 | |
Regioni | 437 – 438 | CDP-L-ribitolBy similarity | 2 | |
Regioni | 480 – 482 | CDP-L-ribitolBy similarity | 3 |
Sequence similaritiesi
Keywords - Domaini
Signal-anchor, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502QV4Y, Eukaryota |
GeneTreei | ENSGT00390000017583 |
HOGENOMi | CLU_041755_1_0_1 |
InParanoidi | Q8CG64 |
OMAi | DNEGFYW |
OrthoDBi | 1115738at2759 |
PhylomeDBi | Q8CG64 |
TreeFami | TF324064 |
Family and domain databases
InterProi | View protein in InterPro IPR007074, LicD_fam |
Pfami | View protein in Pfam PF04991, LicD, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
10 20 30 40 50
MRLTRCWAAL AAAIILNLLV FFYVSWLQHQ PRNSRARGPR RTSAIGPRVT
60 70 80 90 100
VLIREFEAFD NAVPELVDSF LQQDPAQPVV VAADTLPYPP LALPRIPNVR
110 120 130 140 150
LALLQPALDR PAAASRPETY VATEFVALVP DGARAESPGH LERMVEALRG
160 170 180 190 200
SSARLVAAPV ATANPARCLA LNVSLREWTA RYDPAPSAPR CDALDGDAVL
210 220 230 240 250
LMRSRDLFNL SVPLARPLAT SLFLQTALRG WAVQLLDLTF AAARQPPLAT
260 270 280 290 300
AHARWKAERE GRSRRAALLR SLGIRLVSWE GGRLEWFGCS KESARCFGTV
310 320 330 340 350
AGDTPAYLYE GRWTPPCCLR ALRETARYVV GVLEAAGVRY WLEGGSLLGA
360 370 380 390 400
ARHGDIIPWD YDVDLGIYLE DVGNCEQLRG AEAGSVVDER GFVWEKAVEG
410 420 430 440 450
DFFRVQYSEN NHLHVDLWPF YPRNGVMTKD TWLDHRQDVE FPEHFLQPLV
460 470 480 490
PLPFAGFMAQ APNNYRRFLE LKFGPGVIEN PEYPNPALLS LTGG
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A0U1RNU1 | A0A0U1RNU1_MOUSE | Fukutin-related protein | Fkrp | 108 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 243 | A → E in BAC37963 (PubMed:16141072).Curated | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ511806 mRNA Translation: CAD54301.1 BC053072 mRNA Translation: AAH53072.1 AK080624 mRNA Translation: BAC37963.1 Different initiation. |
CCDSi | CCDS20853.1 |
RefSeqi | NP_775606.1, NM_173430.2 XP_006539991.1, XM_006539928.3 XP_006539992.1, XM_006539929.3 XP_006539993.1, XM_006539930.3 XP_011248864.1, XM_011250562.1 |
Genome annotation databases
Ensembli | ENSMUST00000061390; ENSMUSP00000059091; ENSMUSG00000048920 |
GeneIDi | 243853 |
KEGGi | mmu:243853 |
UCSCi | uc009fic.1, mouse |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ511806 mRNA Translation: CAD54301.1 BC053072 mRNA Translation: AAH53072.1 AK080624 mRNA Translation: BAC37963.1 Different initiation. |
CCDSi | CCDS20853.1 |
RefSeqi | NP_775606.1, NM_173430.2 XP_006539991.1, XM_006539928.3 XP_006539992.1, XM_006539929.3 XP_006539993.1, XM_006539930.3 XP_011248864.1, XM_011250562.1 |
3D structure databases
SMRi | Q8CG64 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 232568, 1 interactor |
STRINGi | 10090.ENSMUSP00000059091 |
PTM databases
GlyGeni | Q8CG64, 2 sites |
PhosphoSitePlusi | Q8CG64 |
Proteomic databases
MaxQBi | Q8CG64 |
PaxDbi | Q8CG64 |
PRIDEi | Q8CG64 |
ProteomicsDBi | 271771 |
Protocols and materials databases
Antibodypediai | 57230, 254 antibodies from 25 providers |
DNASUi | 243853 |
Genome annotation databases
Ensembli | ENSMUST00000061390; ENSMUSP00000059091; ENSMUSG00000048920 |
GeneIDi | 243853 |
KEGGi | mmu:243853 |
UCSCi | uc009fic.1, mouse |
Organism-specific databases
CTDi | 79147 |
MGIi | MGI:2447586, Fkrp |
VEuPathDBi | HostDB:ENSMUSG00000048920 |
Phylogenomic databases
eggNOGi | ENOG502QV4Y, Eukaryota |
GeneTreei | ENSGT00390000017583 |
HOGENOMi | CLU_041755_1_0_1 |
InParanoidi | Q8CG64 |
OMAi | DNEGFYW |
OrthoDBi | 1115738at2759 |
PhylomeDBi | Q8CG64 |
TreeFami | TF324064 |
Enzyme and pathway databases
UniPathwayi | UPA00378 |
Miscellaneous databases
BioGRID-ORCSi | 243853, 2 hits in 65 CRISPR screens |
ChiTaRSi | Fkrp, mouse |
PROi | PR:Q8CG64 |
RNActi | Q8CG64, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSMUSG00000048920, Expressed in quadriceps femoris and 264 other tissues |
Genevisiblei | Q8CG64, MM |
Family and domain databases
InterProi | View protein in InterPro IPR007074, LicD_fam |
Pfami | View protein in Pfam PF04991, LicD, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | FKRP_MOUSE | |
Accessioni | Q8CG64Primary (citable) accession number: Q8CG64 Secondary accession number(s): Q8BJR3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 13, 2004 |
Last sequence update: | March 1, 2003 | |
Last modified: | February 23, 2022 | |
This is version 128 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- MGD cross-references
Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - SIMILARITY comments
Index of protein domains and families