Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 155 (08 May 2019)
Sequence version 2 (12 Feb 2003)
Previous versions | rss
Other tutorials and videosHelp videoFeedback
Protein

Fukutin

Gene

FKTN

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 the distal N-acetylgalactosamine of 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:17034757, PubMed:25279699, PubMed:26923585, PubMed:29477842). This constitutes the first step in the formation of the ribitol 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:17034757, PubMed:25279699, PubMed:26923585, PubMed:29477842). Required for normal location of POMGNT1 in Golgi membranes, and for normal POMGNT1 activity (PubMed:17034757). May interact with and reinforce a large complex encompassing the outside and inside of muscle membranes (PubMed:25279699). Could be involved in brain development (Probable).1 Publication4 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.3 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

More...
BioCyci
MetaCyc:ENSG00000106692-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:
Fukutin1 Publication (EC:2.4.2.-2 Publications)
Alternative name(s):
Fukuyama-type congenital muscular dystrophy protein1 Publication
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:FKTN
Synonyms:FCMD
<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 9

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:3622 FKTN

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
607440 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O75072

<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 – 7CytoplasmicSequence analysis7
<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>Transmembranei8 – 28Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini29 – 461LumenalSequence analysisAdd BLAST433

Keywords - Cellular componenti

Cytoplasm, Golgi apparatus, Membrane, Nucleus

<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 A4 (MDDGA4)5 Publications
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.
See also OMIM:253800
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_065051170A → E in MDDGA4. 1 PublicationCorresponds to variant dbSNP:rs119464997EnsemblClinVar.1
Natural variantiVAR_018278250C → G in MDDGA4. 1 Publication1
Natural variantiVAR_065054371Y → C in MDDGA4; loss of normal location in Golgi membranes. 2 PublicationsCorresponds to variant dbSNP:rs119464998EnsemblClinVar.1
Muscular dystrophy-dystroglycanopathy congenital without mental retardation B4 (MDDGB4)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by congenital muscular dystrophy and evidence of dystroglycanopathy. Features included increased serum creatine kinase, generalized weakness, mild white matter changes on brain MRI, and absence of mental retardation.
See also OMIM:613152
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065053246R → G in MDDGB4; detected in a compound heterozygote with very mild phenotype carrying a non-sense mutation. 1 Publication1
Natural variantiVAR_039288307R → Q in MDDGB4 and MDDGC4; the mutant protein is expressed and localized correctly within the cell, decrease in ribitol-5-phosphate transferase activity.. 4 PublicationsCorresponds to variant dbSNP:rs119463992EnsemblClinVar.1
Muscular dystrophy-dystroglycanopathy limb-girdle C4 (MDDGC4)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive degenerative myopathy characterized by progressive weakness of the pelvic and shoulder girdle muscles, and elevated serum creatine kinase. MDDGC4 has no brain involvement and a remarkable clinical response to corticosteroids.
See also OMIM:611588
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065050114A → T in MDDGC4. 1 PublicationCorresponds to variant dbSNP:rs119463995EnsemblClinVar.1
Natural variantiVAR_065052176F → S in MDDGC4. 1 PublicationCorresponds to variant dbSNP:rs119463996EnsemblClinVar.1
Natural variantiVAR_039288307R → Q in MDDGB4 and MDDGC4; the mutant protein is expressed and localized correctly within the cell, decrease in ribitol-5-phosphate transferase activity.. 4 PublicationsCorresponds to variant dbSNP:rs119463992EnsemblClinVar.1
Cardiomyopathy, dilated 1X (CMD1X)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
See also OMIM:611615
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_039287179R → T in CMD1X. 1 PublicationCorresponds to variant dbSNP:rs119463994EnsemblClinVar.1
Natural variantiVAR_039289358Q → P in CMD1X. 1 PublicationCorresponds to variant dbSNP:rs119463993EnsemblClinVar.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>Mutagenesisi133M → T: Decrease in ribitol-5-phosphate transferase activity. 1 Publication1
Mutagenesisi317D → 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

More...
DisGeNETi
2218

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

More...
GeneReviewsi
FKTN

MalaCards human disease database

More...
MalaCardsi
FKTN
MIMi253800 phenotype
611588 phenotype
611615 phenotype
613152 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000106692

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

More...
Orphaneti
206554 Autosomal recessive limb-girdle muscular dystrophy type 2M
370980 Congenital muscular dystrophy without intellectual disability
272 Congenital muscular dystrophy, Fukuyama type
154 Familial isolated dilated cardiomyopathy
588 Muscle-eye-brain disease
899 Walker-Warburg syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162388669

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
FKTN

<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_00002047201 – 461FukutinAdd BLAST461

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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>Glycosylationi92N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
O75072

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
O75072

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O75072

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

More...
PaxDbi
O75072

PeptideAtlas

More...
PeptideAtlasi
O75072

PRoteomics IDEntifications database

More...
PRIDEi
O75072

ProteomicsDB human proteome resource

More...
ProteomicsDBi
49738

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O75072

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

More...
PhosphoSitePlusi
O75072

<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). Widely expressed with highest expression in brain, heart, pancreas and skeletal muscle (PubMed:11115853). Expressed at similar levels in control fetal and adult brain (PubMed:11115853). Expressed in migrating neurons, including Cajar-Retzius cells and adult cortical neurons, as well as hippocampal pyramidal cells and cerebellar Purkinje cells (PubMed:11115853). No expression observed in the glia limitans, the subpial astrocytes (which contribute to basement membrane formation) or other glial cells (PubMed:11115853).2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000106692 Expressed in 216 organ(s), highest expression level in intestine

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
O75072 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O75072 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA012820

<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

Forms a complex composed of FKTN/fukutin, FKRP and RXYLT1/TMEM5 (PubMed:29477842). Interacts (via transmembrane domain) with POMGNT1; the interaction is direct and is required for normal POMGNT1 location in Golgi membranes (PubMed:17034757).2 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
108512, 5 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000223528

<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
O75072

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni6 – 27Required and sufficient for interaction with POMGNT11 PublicationAdd BLAST22

<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

More...
eggNOGi
ENOG410IE24 Eukaryota
ENOG4110U0M LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000014471

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000231657

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O75072

KEGG Orthology (KO)

More...
KOi
K19872

Identification of Orthologs from Complete Genome Data

More...
OMAi
KLGVRFW

Database of Orthologous Groups

More...
OrthoDBi
607108at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O75072

TreeFam database of animal gene trees

More...
TreeFami
TF319633

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR009644 Fukutin-related
IPR007074 LicD_fam

The PANTHER Classification System

More...
PANTHERi
PTHR15407 PTHR15407, 1 hit

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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)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 describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O75072-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSRINKNVVL ALLTLTSSAF LLFQLYYYKH YLSTKNGAGL SKSKGSRIGF
60 70 80 90 100
DSTQWRAVKK FIMLTSNQNV PVFLIDPLIL ELINKNFEQV KNTSHGSTSQ
110 120 130 140 150
CKFFCVPRDF TAFALQYHLW KNEEGWFRIA ENMGFQCLKI ESKDPRLDGI
160 170 180 190 200
DSLSGTEIPL HYICKLATHA IHLVVFHERS GNYLWHGHLR LKEHIDRKFV
210 220 230 240 250
PFRKLQFGRY PGAFDRPELQ QVTVDGLEVL IPKDPMHFVE EVPHSRFIEC
260 270 280 290 300
RYKEARAFFQ QYLDDNTVEA VAFRKSAKEL LQLAAKTLNK LGVPFWLSSG
310 320 330 340 350
TCLGWYRQCN IIPYSKDVDL GIFIQDYKSD IILAFQDAGL PLKHKFGKVE
360 370 380 390 400
DSLELSFQGK DDVKLDVFFF YEETDHMWNG GTQAKTGKKF KYLFPKFTLC
410 420 430 440 450
WTEFVDMKVH VPCETLEYIE ANYGKTWKIP VKTWDWKRSP PNVQPNGIWP
460
ISEWDEVIQL Y
Length:461
Mass (Da):53,724
Last modified:February 12, 2003 - v2
<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:i2D11F28E4BCCD858
GO
Isoform 2 (identifier: O75072-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     426-461: TWKIPVKTWDWKRSPPNVQPNGIWPISEWDEVIQLY → NQQGA

Note: No experimental confirmation available.
Show »
Length:430
Mass (Da):49,832
Checksum:i02A2C72C4FFAEE1C
GO

<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 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8Y7E3A0A2R8Y7E3_HUMAN
Fukutin
FKTN
110Annotation 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>
A0A2R8Y6X6A0A2R8Y6X6_HUMAN
Fukutin
FKTN
56Annotation 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>
H7C3W5H7C3W5_HUMAN
Fukutin
FKTN
160Annotation 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>
I7HPB4I7HPB4_HUMAN
Fukutin
FKTN
27Annotation 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>
R4GMU0R4GMU0_HUMAN
Fukutin
FKTN
67Annotation 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>
A0A2R8Y768A0A2R8Y768_HUMAN
Fukutin
FKTN
396Annotation 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>
A0A2R8Y4L5A0A2R8Y4L5_HUMAN
Fukutin
FKTN
8Annotation 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>
A0A2R8YDW9A0A2R8YDW9_HUMAN
Fukutin
FKTN
104Annotation 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>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti414E → K in BAG62491 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06129656R → C. Corresponds to variant dbSNP:rs41277797EnsemblClinVar.1
Natural variantiVAR_065050114A → T in MDDGC4. 1 PublicationCorresponds to variant dbSNP:rs119463995EnsemblClinVar.1
Natural variantiVAR_033926125G → S in a patient diagnosed with Walker-Warburg syndrome. 1 PublicationCorresponds to variant dbSNP:rs34006675EnsemblClinVar.1
Natural variantiVAR_065051170A → E in MDDGA4. 1 PublicationCorresponds to variant dbSNP:rs119464997EnsemblClinVar.1
Natural variantiVAR_065052176F → S in MDDGC4. 1 PublicationCorresponds to variant dbSNP:rs119463996EnsemblClinVar.1
Natural variantiVAR_039287179R → T in CMD1X. 1 PublicationCorresponds to variant dbSNP:rs119463994EnsemblClinVar.1
Natural variantiVAR_033927203R → Q1 PublicationCorresponds to variant dbSNP:rs34787999EnsemblClinVar.1
Natural variantiVAR_036334225D → E in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs779298204Ensembl.1
Natural variantiVAR_036335225D → N in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs1298422772Ensembl.1
Natural variantiVAR_065053246R → G in MDDGB4; detected in a compound heterozygote with very mild phenotype carrying a non-sense mutation. 1 Publication1
Natural variantiVAR_018278250C → G in MDDGA4. 1 Publication1
Natural variantiVAR_039288307R → Q in MDDGB4 and MDDGC4; the mutant protein is expressed and localized correctly within the cell, decrease in ribitol-5-phosphate transferase activity.. 4 PublicationsCorresponds to variant dbSNP:rs119463992EnsemblClinVar.1
Natural variantiVAR_039289358Q → P in CMD1X. 1 PublicationCorresponds to variant dbSNP:rs119463993EnsemblClinVar.1
Natural variantiVAR_065054371Y → C in MDDGA4; loss of normal location in Golgi membranes. 2 PublicationsCorresponds to variant dbSNP:rs119464998EnsemblClinVar.1
Natural variantiVAR_018279446N → D1 PublicationCorresponds to variant dbSNP:rs41313301EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_045961426 – 461TWKIP…VIQLY → NQQGA in isoform 2. 1 PublicationAdd BLAST36

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB008226 mRNA Translation: BAA32000.1
AB038490 Genomic DNA Translation: BAA94082.1
AK300840 mRNA Translation: BAG62491.1
AL158070 Genomic DNA No translation available.
BC101808 mRNA Translation: AAI01809.1
BC112038 mRNA Translation: AAI12039.1
BC117699 mRNA Translation: AAI17700.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS6766.1 [O75072-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001073270.1, NM_001079802.1 [O75072-1]
NP_001185892.1, NM_001198963.1 [O75072-2]
NP_006722.2, NM_006731.2 [O75072-1]
XP_016869955.1, XM_017014466.1
XP_016869956.1, XM_017014467.1 [O75072-1]
XP_016869957.1, XM_017014468.1 [O75072-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000223528; ENSP00000223528; ENSG00000106692 [O75072-1]
ENST00000357998; ENSP00000350687; ENSG00000106692 [O75072-2]
ENST00000448551; ENSP00000399140; ENSG00000106692 [O75072-2]
ENST00000602661; ENSP00000473540; ENSG00000106692 [O75072-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
2218

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:2218

UCSC genome browser

More...
UCSCi
uc004bcr.4 human [O75072-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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
AB008226 mRNA Translation: BAA32000.1
AB038490 Genomic DNA Translation: BAA94082.1
AK300840 mRNA Translation: BAG62491.1
AL158070 Genomic DNA No translation available.
BC101808 mRNA Translation: AAI01809.1
BC112038 mRNA Translation: AAI12039.1
BC117699 mRNA Translation: AAI17700.1
CCDSiCCDS6766.1 [O75072-1]
RefSeqiNP_001073270.1, NM_001079802.1 [O75072-1]
NP_001185892.1, NM_001198963.1 [O75072-2]
NP_006722.2, NM_006731.2 [O75072-1]
XP_016869955.1, XM_017014466.1
XP_016869956.1, XM_017014467.1 [O75072-1]
XP_016869957.1, XM_017014468.1 [O75072-1]

3D structure databases

SMRiO75072
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108512, 5 interactors
STRINGi9606.ENSP00000223528

PTM databases

iPTMnetiO75072
PhosphoSitePlusiO75072

Polymorphism and mutation databases

BioMutaiFKTN

Proteomic databases

EPDiO75072
jPOSTiO75072
MaxQBiO75072
PaxDbiO75072
PeptideAtlasiO75072
PRIDEiO75072
ProteomicsDBi49738

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
2218
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000223528; ENSP00000223528; ENSG00000106692 [O75072-1]
ENST00000357998; ENSP00000350687; ENSG00000106692 [O75072-2]
ENST00000448551; ENSP00000399140; ENSG00000106692 [O75072-2]
ENST00000602661; ENSP00000473540; ENSG00000106692 [O75072-1]
GeneIDi2218
KEGGihsa:2218
UCSCiuc004bcr.4 human [O75072-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
2218
DisGeNETi2218

GeneCards: human genes, protein and diseases

More...
GeneCardsi
FKTN
GeneReviewsiFKTN
HGNCiHGNC:3622 FKTN
HPAiHPA012820
MalaCardsiFKTN
MIMi253800 phenotype
607440 gene
611588 phenotype
611615 phenotype
613152 phenotype
neXtProtiNX_O75072
OpenTargetsiENSG00000106692
Orphaneti206554 Autosomal recessive limb-girdle muscular dystrophy type 2M
370980 Congenital muscular dystrophy without intellectual disability
272 Congenital muscular dystrophy, Fukuyama type
154 Familial isolated dilated cardiomyopathy
588 Muscle-eye-brain disease
899 Walker-Warburg syndrome
PharmGKBiPA162388669

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IE24 Eukaryota
ENOG4110U0M LUCA
GeneTreeiENSGT00390000014471
HOGENOMiHOG000231657
InParanoidiO75072
KOiK19872
OMAiKLGVRFW
OrthoDBi607108at2759
PhylomeDBiO75072
TreeFamiTF319633

Enzyme and pathway databases

UniPathwayi
UPA00378

BioCyciMetaCyc:ENSG00000106692-MONOMER

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
FKTN human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Fukutin

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

More...
GenomeRNAii
2218

Protein Ontology

More...
PROi
PR:O75072

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000106692 Expressed in 216 organ(s), highest expression level in intestine
ExpressionAtlasiO75072 baseline and differential
GenevisibleiO75072 HS

Family and domain databases

InterProiView protein in InterPro
IPR009644 Fukutin-related
IPR007074 LicD_fam
PANTHERiPTHR15407 PTHR15407, 1 hit
PfamiView protein in Pfam
PF04991 LicD, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
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 nameiFKTN_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: O75072
Secondary accession number(s): B4DUX9
, J3KP13, Q3MIJ1, Q96TE1, Q9P295
<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: February 21, 2001
Last sequence update: February 12, 2003
Last modified: May 8, 2019
This is version 155 of the entry and version 2 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. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PATHWAY comments
    Index of metabolic and biosynthesis pathways
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again