Human Gene FKTN (ENST00000602661.5) Description and Page Index
  Description: Homo sapiens fukutin (FKTN), transcript variant 10, mRNA. (from RefSeq NM_001351502)
RefSeq Summary (NM_001079802): The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2010].
Gencode Transcript: ENST00000602661.5
Gencode Gene: ENSG00000106692.14
Transcript (Including UTRs)
   Position: hg38 chr9:105,558,130-105,636,238 Size: 78,109 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg38 chr9:105,575,033-105,635,264 Size: 60,232 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesGeneReviewsMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:105,558,130-105,636,238)mRNA (may differ from genome)Protein (461 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGImyGene2neXtProtOMIM
PubMedStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: FKTN_HUMAN
DESCRIPTION: RecName: Full=Fukutin; EC=2.-.-.-; AltName: Full=Fukuyama-type congenital muscular dystrophy protein;
FUNCTION: May be a glycosyltransferase which participates in glycosylation of alpha-dystroglycan/DAG1. May interact with and reinforce a large complex encompassing the outside and inside of muscle membranes. Could be involved in brain development.
SUBCELLULAR LOCATION: Golgi apparatus membrane; Single-pass type II membrane protein (By similarity).
TISSUE SPECIFICITY: Widely expressed with highest expression in brain, heart, pancreas and skeletal muscle. Expressed at similar levels in control fetal and adult brain, but is much reduced in Fukuyama-type congenital dystrophy (FCMD) brains. Expressed in migrating neurons, including Cajar-Retzius cells and adult cortical neurons, as well as hippocampal pyramidal cells and cerebellar Purkinje cells. No expression observed in the glia limitans, the subpial astrocytes (which contribute to basement membrane formation) or other glial cells. In the FCMD brain, neurons in regions with no dysplasia show fair expression, whereas transcripts are nearly undetectable in the overmigrated dysplastic region.
DISEASE: Defects in FKTN are the cause of muscular dystrophy- dystroglycanopathy congenital with brain and eye anomalies type A4 (MDDGA4) [MIM:253800]; also called congenital muscular dystrophy Fukuyama type (FCMD) or Walker-Warburg syndrome FKTN-related. MDDGA4 is an autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies. Patients suffer from generalized skeletal muscle weakness and hypotonia from early infancy, mental retardation and seizures. Occasional features include optic atrophy, retinal detachment, cardiomyopathy.
DISEASE: Defects in FKTN are the cause of muscular dystrophy- dystroglycanopathy congenital without mental retardation type B4 (MDDGB4) [MIM:613152]. An 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 in some cases, and absence of mental retardation.
DISEASE: Defects in FKTN are the cause of muscular dystrophy- dystroglycanopathy limb-girdle type C4 (MDDGC4) [MIM:611588]. MDDGC4 is an autosomal recessive degenerative myopathy characterized by progressive weakness of the pelvic and shoulder girdle muscles and elevated serum creatine kinase. The severity of the disease depends on age at onset which may vary from early to late childhood or even adulthood. MDDGC4 is a novel form of LGMD2 and has no brain involvement and a remarkable clinical response to corticosteroids.
DISEASE: Defects in FKTN are the cause of cardiomyopathy dilated type 1X (CMD1X) [MIM:611615]; also called dilated cardiomyopathy with mild or no proximal muscle weakness. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
SIMILARITY: Belongs to the LicD transferase family.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FKTN";
WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/";

-  MalaCards Disease Associations
  MalaCards Gene Search: FKTN
Diseases sorted by gene-association score: muscular dystrophy-dystroglycanopathy , type a, 4* (1681), muscular dystrophy-dystroglycanopathy , type c, 4* (1567), cardiomyopathy, dilated, 1x* (1236), muscular dystrophy-dystroglycanopathy , type b, 4* (1200), walker-warburg syndrome* (811), fktn-related dilated cardiomyopathy* (500), fukuyama type muscular dystrophy* (400), muscle eye brain disease* (220), congenital muscular dystrophy without intellectual disability* (202), fktn-related muscle diseases* (200), familial isolated dilated cardiomyopathy* (56), muscular dystrophy (30), muscular dystrophy-dystroglycanopathy , type b, 5 (20), cobblestone lissencephaly (14), muscular dystrophy, congenital merosin-deficient (11), dilated cardiomyopathy 1b (11), lissencephaly (11), muscular dystrophy, congenital, 1b (8), ablepharon-macrostomia syndrome (7), muscular dystrophy-dystroglycanopathy , type b, 6 (7), becker muscular dystrophy (7), muscular dystrophy, congenital (7), muscular dystrophy, limb-girdle, type 2l (7), cardiomyopathy (6), erythema infectiosum (6), muscle tissue disease (5), dilated cardiomyopathy (3), congenital nervous system abnormality (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.84 RPKM in Cells - Transformed fibroblasts
Total median expression: 151.12 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -34.20216-0.158 Picture PostScript Text
3' UTR -221.70974-0.228 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009644 - Fukutin-related
IPR007074 - LicD

Pfam Domains:
PF04991 - LicD family

ModBase Predicted Comparative 3D Structure on O75072
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0016740 transferase activity

Biological Process:
GO:0006486 protein glycosylation
GO:0006493 protein O-linked glycosylation
GO:0007399 nervous system development
GO:0007517 muscle organ development
GO:0008285 negative regulation of cell proliferation
GO:0035269 protein O-linked mannosylation
GO:0046329 negative regulation of JNK cascade
GO:0060049 regulation of protein glycosylation

Cellular Component:
GO:0000139 Golgi membrane
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005801 cis-Golgi network
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030173 integral component of Golgi membrane


-  Descriptions from all associated GenBank mRNAs
  AB609007 - Homo sapiens mRNA for patient fukutin, complete cds.
AK304460 - Homo sapiens cDNA FLJ58999 complete cds, highly similar to Fukutin (EC 2.-.-.-).
BC058842 - Homo sapiens fukutin, mRNA (cDNA clone IMAGE:6709437), containing frame-shift errors.
AK300840 - Homo sapiens cDNA FLJ60899 complete cds, highly similar to Fukutin (EC 2.-.-.-).
AB008226 - Homo sapiens FCMD mRNA for fukutin, complete cds.
BC117699 - Homo sapiens fukutin, mRNA (cDNA clone MGC:134944 IMAGE:40073633), complete cds.
BC117700 - Homo sapiens fukutin, mRNA (cDNA clone MGC:134945 IMAGE:40073634), complete cds.
BC101808 - Homo sapiens fukutin, mRNA (cDNA clone MGC:126857 IMAGE:8069314), complete cds.
BC112038 - Homo sapiens fukutin, mRNA (cDNA clone MGC:138243 IMAGE:8327506), complete cds.
KJ891153 - Synthetic construct Homo sapiens clone ccsbBroadEn_00547 FKTN gene, encodes complete protein.
KR711993 - Synthetic construct Homo sapiens clone CCSBHm_00034524 FKTN (FKTN) mRNA, encodes complete protein.
KR711994 - Synthetic construct Homo sapiens clone CCSBHm_00034530 FKTN (FKTN) mRNA, encodes complete protein.
KR711995 - Synthetic construct Homo sapiens clone CCSBHm_00034534 FKTN (FKTN) mRNA, encodes complete protein.
KR711996 - Synthetic construct Homo sapiens clone CCSBHm_00034541 FKTN (FKTN) mRNA, encodes complete protein.
JD434772 - Sequence 415796 from Patent EP1572962.
JD290278 - Sequence 271302 from Patent EP1572962.
JD552279 - Sequence 533303 from Patent EP1572962.
JD313471 - Sequence 294495 from Patent EP1572962.
JD506540 - Sequence 487564 from Patent EP1572962.
JD170789 - Sequence 151813 from Patent EP1572962.
JD325172 - Sequence 306196 from Patent EP1572962.
JD362691 - Sequence 343715 from Patent EP1572962.
JD075243 - Sequence 56267 from Patent EP1572962.
JD548818 - Sequence 529842 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: FCMD, FKTN_HUMAN, NM_001351502, O75072, Q3MIJ1, Q96TE1, Q9P295, uc004bcr.1, uc004bcr.2, uc004bcr.3, uc004bcr.4
UCSC ID: uc004bcr.4
RefSeq Accession: NM_001079802
Protein: O75072 (aka FKTN_HUMAN)
CCDS: CCDS6766.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene FKTN:
fcmd (Fukuyama Congenital Muscular Dystrophy)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.