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Entry version 148 (16 Oct 2019)
Sequence version 1 (01 Mar 2001)
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Protein

Fukutin-related protein

Gene

FKRP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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:25279699, PubMed:26923585, PubMed:29477842). 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:25279699, PubMed:26923585, PubMed:29477842).3 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: protein glycosylation

This protein is involved in the pathway protein glycosylation, which is part of Protein modification.2 Publications
View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionTransferase

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:ENSG00000181027-MONOMER

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00378

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Fukutin-related protein1 Publication (EC:2.4.2.-2 Publications)
Alternative name(s):
Ribitol-5-phosphate transferase1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:FKRP
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 19

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:17997 FKRP

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606596 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9H9S5

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 6CytoplasmicSequence analysis6
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei7 – 29HelicalSequence analysisAdd BLAST23
Topological domaini30 – 495LumenalSequence analysisAdd BLAST466

Keywords - Cellular componenti

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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5 (MDDGA5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_022850307Y → N in MDDGC5 and MDDGA5; muscle-eye-brain disease, decrease in ribitol-5-phosphate transferase activity.. 3 PublicationsCorresponds to variant dbSNP:rs104894692EnsemblClinVar.1
Natural variantiVAR_022852318C → Y in MDDGA5; severe Walker-Warburg syndrome. 1 PublicationCorresponds to variant dbSNP:rs104894684EnsemblClinVar.1
Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_018280114A → G in MDDGB5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs143793528EnsemblClinVar.1
Natural variantiVAR_018283217P → T in MDDGB5. 1 Publication1
Natural variantiVAR_018284221S → R in MDDGB5; severe form; brain involvement; mental retardation and cerebellar cysts on cranial MRI. 1 PublicationCorresponds to variant dbSNP:rs28937902EnsemblClinVar.1
Natural variantiVAR_018286309Y → C in MDDGB5. 2 PublicationsCorresponds to variant dbSNP:rs104894679EnsemblClinVar.1
Natural variantiVAR_018288315P → T in MDDGB5; severe form; brain involvement; mental retardation and cerebellar cysts on cranial MRI. 1 Publication1
Natural variantiVAR_018289316P → R in MDDGB5 and MDDGC5. 2 PublicationsCorresponds to variant dbSNP:rs752582904EnsemblClinVar.1
Natural variantiVAR_018290328Y → S in MDDGB5. 1 Publication1
Natural variantiVAR_018292339R → H in MDDGB5. 2 Publications1
Natural variantiVAR_018293401D → N in MDDGB5. 1 PublicationCorresponds to variant dbSNP:rs1555739117EnsemblClinVar.1
Natural variantiVAR_022854405V → L in MDDGB5; severe form; brain involvement; mental retardation and cerebellar cysts on cranial MRI. 1 PublicationCorresponds to variant dbSNP:rs28937904EnsemblClinVar.1
Natural variantiVAR_018294448P → L in MDDGB5; strongly reduced secretion to the medium; localizes mainly to the ER compartment. 4 PublicationsCorresponds to variant dbSNP:rs104894681EnsemblClinVar.1
Natural variantiVAR_022855455A → D in MDDGB5; severe form; brain involvement; mental retardation and cerebellar cysts on cranial MRI. 1 PublicationCorresponds to variant dbSNP:rs28937903EnsemblClinVar.1
Natural variantiVAR_065063463N → D in MDDGB5. 1 PublicationCorresponds to variant dbSNP:rs121908110EnsemblClinVar.1
Natural variantiVAR_018295465Y → S in MDDGB5. 1 PublicationCorresponds to variant dbSNP:rs1057520772EnsemblClinVar.1
Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01927254R → W in MDDGC5. 1 PublicationCorresponds to variant dbSNP:rs28937905EnsemblClinVar.1
Natural variantiVAR_06505579V → M in MDDGC5. 1 PublicationCorresponds to variant dbSNP:rs104894683EnsemblClinVar.1
Natural variantiVAR_065056134R → W in MDDGC5. 1 PublicationCorresponds to variant dbSNP:rs104894690EnsemblClinVar.1
Natural variantiVAR_018281143 – 146Missing in MDDGC5. 1 Publication4
Natural variantiVAR_018282143R → S in MDDGC5. 1 PublicationCorresponds to variant dbSNP:rs148206382EnsemblClinVar.1
Natural variantiVAR_065057160V → F in MDDGC5. 1 Publication1
Natural variantiVAR_065058182Y → C in MDDGC5. 1 PublicationCorresponds to variant dbSNP:rs543163491EnsemblClinVar.1
Natural variantiVAR_018285276L → I in MDDGC5; reduced secretion to the medium; localizes mainly to the Golgi apparatus. 5 PublicationsCorresponds to variant dbSNP:rs28937900EnsemblClinVar.1
Natural variantiVAR_065059293T → I in MDDGC5. 1 Publication1
Natural variantiVAR_065060300V → A in MDDGC5. 1 PublicationCorresponds to variant dbSNP:rs104894691EnsemblClinVar.1
Natural variantiVAR_065061300V → M in MDDGC5. 1 PublicationCorresponds to variant dbSNP:rs563033008EnsemblClinVar.1
Natural variantiVAR_022850307Y → N in MDDGC5 and MDDGA5; muscle-eye-brain disease, decrease in ribitol-5-phosphate transferase activity.. 3 PublicationsCorresponds to variant dbSNP:rs104894692EnsemblClinVar.1
Natural variantiVAR_018287312R → C in MDDGC5. 1 Publication1
Natural variantiVAR_081096314T → M in MDDGC5. 1 PublicationCorresponds to variant dbSNP:rs398124395EnsemblClinVar.1
Natural variantiVAR_018289316P → R in MDDGB5 and MDDGC5. 2 PublicationsCorresponds to variant dbSNP:rs752582904EnsemblClinVar.1
Natural variantiVAR_022851316P → S in MDDGC5. 1 PublicationCorresponds to variant dbSNP:rs28937901EnsemblClinVar.1
Natural variantiVAR_018291339R → L in MDDGC5. 1 PublicationCorresponds to variant dbSNP:rs1450841129Ensembl.1
Natural variantiVAR_065062358P → L in MDDGC5. 1 PublicationCorresponds to variant dbSNP:rs143031195EnsemblClinVar.1
Natural variantiVAR_022853360D → N in MDDGC5. 1 PublicationCorresponds to variant dbSNP:rs770195088Ensembl.1
Natural variantiVAR_022856462P → S in MDDGC5. 1 PublicationCorresponds to variant dbSNP:rs768606230EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi362D → A: Decrease in ribitol-5-phosphate transferase activity. 1 Publication1

Keywords - Diseasei

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

Organism-specific databases

DisGeNET

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DisGeNETi
79147

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
FKRP

MalaCards human disease database

More...
MalaCardsi
FKRP
MIMi606612 phenotype
607155 phenotype
613153 phenotype

Open Targets

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OpenTargetsi
ENSG00000181027

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
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

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA134976709

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
Q9H9S5

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
FKRP

Domain mapping of disease mutations (DMDM)

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DMDMi
46395992

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002047231 – 495Fukutin-related proteinAdd BLAST495

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi6Interchain1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi172N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi209N-linked (GlcNAc...) asparagine1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

N-glycosylated.2 Publications

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9H9S5

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9H9S5

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9H9S5

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9H9S5

PeptideAtlas

More...
PeptideAtlasi
Q9H9S5

PRoteomics IDEntifications database

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PRIDEi
Q9H9S5

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
81360

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9H9S5

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q9H9S5

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q9H9S5

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in the retina (at protein level) (PubMed:29416295). Expressed predominantly in skeletal muscle, placenta, and heart and relatively weakly in brain, lung, liver, kidney, and pancreas (PubMed:11592034).2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000181027 Expressed in 186 organ(s), highest expression level in quadriceps femoris

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9H9S5 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9H9S5 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA043115
HPA060454

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer; disulfide-linked (PubMed:21886772).

Forms a complex composed of FKRP, FKTN/fukutin, and RXYLT1/TMEM5 (PubMed:29477842). Exists also as large multimeric protein complexes (PubMed:25279699). May interact with the dystrophin-glycoprotein complex (DGC) (By similarity).

By similarity3 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
122565, 19 interactors

Protein interaction database and analysis system

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IntActi
Q9H9S5, 17 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000326570

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9H9S5

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the LicD transferase family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IFID Eukaryota
ENOG410XP2R LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000017583

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000007172

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9H9S5

KEGG Orthology (KO)

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KOi
K19873

Identification of Orthologs from Complete Genome Data

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OMAi
HQDIIPW

Database of Orthologous Groups

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OrthoDBi
1115738at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9H9S5

TreeFam database of animal gene trees

More...
TreeFami
TF324064

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR007074 LicD_fam

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF04991 LicD, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 16 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i8D47756C28C6F578
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 16 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
M0R2U3M0R2U3_HUMAN
Fukutin-related protein
FKRP
53Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M0QZ46M0QZ46_HUMAN
Fukutin-related protein
FKRP
86Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M0QXT8M0QXT8_HUMAN
Fukutin-related protein
FKRP
68Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M0QYR2M0QYR2_HUMAN
Fukutin-related protein
FKRP
72Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M0QYV4M0QYV4_HUMAN
Fukutin-related protein
FKRP
80Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M0R016M0R016_HUMAN
Fukutin-related protein
FKRP
61Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M0R112M0R112_HUMAN
Fukutin-related protein
FKRP
70Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M0R274M0R274_HUMAN
Fukutin-related protein
FKRP
59Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M0R092M0R092_HUMAN
Fukutin-related protein
FKRP
29Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M0QX03M0QX03_HUMAN
Fukutin-related protein
FKRP
106Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01927254R → W in MDDGC5. 1 PublicationCorresponds to variant dbSNP:rs28937905EnsemblClinVar.1
Natural variantiVAR_06505579V → M in MDDGC5. 1 PublicationCorresponds to variant dbSNP:rs104894683EnsemblClinVar.1
Natural variantiVAR_018280114A → G in MDDGB5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs143793528EnsemblClinVar.1
Natural variantiVAR_065056134R → W in MDDGC5. 1 PublicationCorresponds to variant dbSNP:rs104894690EnsemblClinVar.1
Natural variantiVAR_018281143 – 146Missing in MDDGC5. 1 Publication4
Natural variantiVAR_018282143R → S in MDDGC5. 1 PublicationCorresponds to variant dbSNP:rs148206382EnsemblClinVar.1
Natural variantiVAR_065057160V → F in MDDGC5. 1 Publication1
Natural variantiVAR_065058182Y → C in MDDGC5. 1 PublicationCorresponds to variant dbSNP:rs543163491EnsemblClinVar.1
Natural variantiVAR_018283217P → T in MDDGB5. 1 Publication1
Natural variantiVAR_018284221S → R in MDDGB5; severe form; brain involvement; mental retardation and cerebellar cysts on cranial MRI. 1 PublicationCorresponds to variant dbSNP:rs28937902EnsemblClinVar.1
Natural variantiVAR_018285276L → I in MDDGC5; reduced secretion to the medium; localizes mainly to the Golgi apparatus. 5 PublicationsCorresponds to variant dbSNP:rs28937900EnsemblClinVar.1
Natural variantiVAR_065059293T → I in MDDGC5. 1 Publication1
Natural variantiVAR_065060300V → A in MDDGC5. 1 PublicationCorresponds to variant dbSNP:rs104894691EnsemblClinVar.1
Natural variantiVAR_065061300V → M in MDDGC5. 1 PublicationCorresponds to variant dbSNP:rs563033008EnsemblClinVar.1
Natural variantiVAR_022850307Y → N in MDDGC5 and MDDGA5; muscle-eye-brain disease, decrease in ribitol-5-phosphate transferase activity.. 3 PublicationsCorresponds to variant dbSNP:rs104894692EnsemblClinVar.1
Natural variantiVAR_018286309Y → C in MDDGB5. 2 PublicationsCorresponds to variant dbSNP:rs104894679EnsemblClinVar.1
Natural variantiVAR_018287312R → C in MDDGC5. 1 Publication1
Natural variantiVAR_081096314T → M in MDDGC5. 1 PublicationCorresponds to variant dbSNP:rs398124395EnsemblClinVar.1
Natural variantiVAR_018288315P → T in MDDGB5; severe form; brain involvement; mental retardation and cerebellar cysts on cranial MRI. 1 Publication1
Natural variantiVAR_018289316P → R in MDDGB5 and MDDGC5. 2 PublicationsCorresponds to variant dbSNP:rs752582904EnsemblClinVar.1
Natural variantiVAR_022851316P → S in MDDGC5. 1 PublicationCorresponds to variant dbSNP:rs28937901EnsemblClinVar.1
Natural variantiVAR_022852318C → Y in MDDGA5; severe Walker-Warburg syndrome. 1 PublicationCorresponds to variant dbSNP:rs104894684EnsemblClinVar.1
Natural variantiVAR_018290328Y → S in MDDGB5. 1 Publication1
Natural variantiVAR_018292339R → H in MDDGB5. 2 Publications1
Natural variantiVAR_018291339R → L in MDDGC5. 1 PublicationCorresponds to variant dbSNP:rs1450841129Ensembl.1
Natural variantiVAR_065062358P → L in MDDGC5. 1 PublicationCorresponds to variant dbSNP:rs143031195EnsemblClinVar.1
Natural variantiVAR_022853360D → N in MDDGC5. 1 PublicationCorresponds to variant dbSNP:rs770195088Ensembl.1
Natural variantiVAR_018293401D → N in MDDGB5. 1 PublicationCorresponds to variant dbSNP:rs1555739117EnsemblClinVar.1
Natural variantiVAR_022854405V → L in MDDGB5; severe form; brain involvement; mental retardation and cerebellar cysts on cranial MRI. 1 PublicationCorresponds to variant dbSNP:rs28937904EnsemblClinVar.1
Natural variantiVAR_018294448P → L in MDDGB5; strongly reduced secretion to the medium; localizes mainly to the ER compartment. 4 PublicationsCorresponds to variant dbSNP:rs104894681EnsemblClinVar.1
Natural variantiVAR_022855455A → D in MDDGB5; severe form; brain involvement; mental retardation and cerebellar cysts on cranial MRI. 1 PublicationCorresponds to variant dbSNP:rs28937903EnsemblClinVar.1
Natural variantiVAR_022856462P → S in MDDGC5. 1 PublicationCorresponds to variant dbSNP:rs768606230EnsemblClinVar.1
Natural variantiVAR_065063463N → D in MDDGB5. 1 PublicationCorresponds to variant dbSNP:rs121908110EnsemblClinVar.1
Natural variantiVAR_018295465Y → S in MDDGB5. 1 PublicationCorresponds to variant dbSNP:rs1057520772EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

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CCDSi
CCDS12691.1

NCBI Reference Sequences

More...
RefSeqi
NP_001034974.1, NM_001039885.2
NP_077277.1, NM_024301.4
XP_005259304.1, XM_005259247.2
XP_005259305.1, XM_005259248.2
XP_005259306.1, XM_005259249.4
XP_011525608.1, XM_011527306.1
XP_011525609.1, XM_011527307.1
XP_016882786.1, XM_017027297.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000318584; ENSP00000326570; ENSG00000181027
ENST00000391909; ENSP00000375776; ENSG00000181027

Database of genes from NCBI RefSeq genomes

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GeneIDi
79147

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:79147

UCSC genome browser

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UCSCi
uc002pfn.3 human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

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_005259247.2
XP_005259305.1, XM_005259248.2
XP_005259306.1, XM_005259249.4
XP_011525608.1, XM_011527306.1
XP_011525609.1, XM_011527307.1
XP_016882786.1, XM_017027297.1

3D structure databases

SMRiQ9H9S5
ModBaseiSearch...

Protein-protein interaction databases

BioGridi122565, 19 interactors
IntActiQ9H9S5, 17 interactors
STRINGi9606.ENSP00000326570

PTM databases

iPTMnetiQ9H9S5
PhosphoSitePlusiQ9H9S5
SwissPalmiQ9H9S5

Polymorphism and mutation databases

BioMutaiFKRP
DMDMi46395992

Proteomic databases

EPDiQ9H9S5
MassIVEiQ9H9S5
MaxQBiQ9H9S5
PaxDbiQ9H9S5
PeptideAtlasiQ9H9S5
PRIDEiQ9H9S5
ProteomicsDBi81360

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
79147

Genome annotation databases

EnsembliENST00000318584; ENSP00000326570; ENSG00000181027
ENST00000391909; ENSP00000375776; ENSG00000181027
GeneIDi79147
KEGGihsa:79147
UCSCiuc002pfn.3 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
79147
DisGeNETi79147

GeneCards: human genes, protein and diseases

More...
GeneCardsi
FKRP
GeneReviewsiFKRP
HGNCiHGNC:17997 FKRP
HPAiHPA043115
HPA060454
MalaCardsiFKRP
MIMi606596 gene
606612 phenotype
607155 phenotype
613153 phenotype
neXtProtiNX_Q9H9S5
OpenTargetsiENSG00000181027
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

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IFID Eukaryota
ENOG410XP2R LUCA
GeneTreeiENSGT00390000017583
HOGENOMiHOG000007172
InParanoidiQ9H9S5
KOiK19873
OMAiHQDIIPW
OrthoDBi1115738at2759
PhylomeDBiQ9H9S5
TreeFamiTF324064

Enzyme and pathway databases

UniPathwayiUPA00378
BioCyciMetaCyc:ENSG00000181027-MONOMER

Miscellaneous databases

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
79147
PharosiQ9H9S5

Protein Ontology

More...
PROi
PR:Q9H9S5

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000181027 Expressed in 186 organ(s), highest expression level in quadriceps femoris
ExpressionAtlasiQ9H9S5 baseline and differential
GenevisibleiQ9H9S5 HS

Family and domain databases

InterProiView protein in InterPro
IPR007074 LicD_fam
PfamiView protein in Pfam
PF04991 LicD, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiFKRP_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9H9S5
Secondary accession number(s): A8K5G7
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 13, 2004
Last sequence update: March 1, 2001
Last modified: October 16, 2019
This is version 148 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  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. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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