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Protein

Fukutin

Gene

FKTN

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

Functioni

Glycosyltransferase involved in the biosynthesis 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), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. May interact with and reinforce a large complex encompassing the outside and inside of muscle membranes. Could be involved in brain development.1 Publication

Pathwayi: protein glycosylation

This protein is involved in the pathway protein glycosylation, which is part of Protein modification.1 Publication
View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.

GO - Molecular functioni

GO - Biological processi

  • muscle organ development Source: ProtInc
  • negative regulation of cell proliferation Source: BHF-UCL
  • negative regulation of JNK cascade Source: BHF-UCL
  • nervous system development Source: ProtInc
  • protein O-linked mannosylation Source: UniProtKB
  • regulation of protein glycosylation Source: BHF-UCL

Keywordsi

Molecular functionTransferase

Enzyme and pathway databases

UniPathwayiUPA00378.

Names & Taxonomyi

Protein namesi
Recommended name:
Fukutin (EC:2.-.-.-)
Alternative name(s):
Fukuyama-type congenital muscular dystrophy protein
Gene namesi
Name:FKTN
Synonyms:FCMD
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000106692.13.
HGNCiHGNC:3622. FKTN.

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; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 7CytoplasmicSequence analysis7
Transmembranei8 – 28Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini29 – 461LumenalSequence analysisAdd BLAST433

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4 (MDDGA4)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 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
Natural variantiVAR_065051170A → E in MDDGA4. 1 PublicationCorresponds to variant dbSNP:rs119464997Ensembl.1
Natural variantiVAR_018278250C → G in MDDGA4. 1 Publication1
Natural variantiVAR_065054371Y → C in MDDGA4. 1 PublicationCorresponds to variant dbSNP:rs119464998Ensembl.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. 3 PublicationsCorresponds to variant dbSNP:rs119463992Ensembl.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:rs119463995Ensembl.1
Natural variantiVAR_065052176F → S in MDDGC4. 1 PublicationCorresponds to variant dbSNP:rs119463996Ensembl.1
Natural variantiVAR_039288307R → Q in MDDGB4 and MDDGC4; the mutant protein is expressed and localized correctly within the cell. 3 PublicationsCorresponds to variant dbSNP:rs119463992Ensembl.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:rs119463994Ensembl.1
Natural variantiVAR_039289358Q → P in CMD1X. 1 PublicationCorresponds to variant dbSNP:rs119463993Ensembl.1

Keywords - Diseasei

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

Organism-specific databases

DisGeNETi2218.
GeneReviewsiFKTN.
MalaCardsiFKTN.
MIMi253800. phenotype.
611588. phenotype.
611615. phenotype.
613152. phenotype.
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.

Polymorphism and mutation databases

BioMutaiFKTN.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002047201 – 461FukutinAdd BLAST461

Amino acid modifications

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

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiO75072.
PaxDbiO75072.
PeptideAtlasiO75072.
PRIDEiO75072.

PTM databases

iPTMnetiO75072.
PhosphoSitePlusiO75072.

Expressioni

Tissue specificityi

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.1 Publication

Gene expression databases

BgeeiENSG00000106692.
CleanExiHS_FKTN.
ExpressionAtlasiO75072. baseline and differential.
GenevisibleiO75072. HS.

Organism-specific databases

HPAiHPA012820.

Interactioni

Protein-protein interaction databases

BioGridi108512. 4 interactors.
STRINGi9606.ENSP00000223528.

Structurei

3D structure databases

ProteinModelPortaliO75072.
SMRiO75072.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the LicD transferase family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IE24. Eukaryota.
ENOG4110U0M. LUCA.
GeneTreeiENSGT00390000014471.
HOGENOMiHOG000231657.
HOVERGENiHBG005068.
InParanoidiO75072.
KOiK19872.
OMAiPVKTWDW.
OrthoDBiEOG091G0K3C.
PhylomeDBiO75072.
TreeFamiTF319633.

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.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

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
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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti414E → K in BAG62491 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06129656R → C. Corresponds to variant dbSNP:rs41277797Ensembl.1
Natural variantiVAR_065050114A → T in MDDGC4. 1 PublicationCorresponds to variant dbSNP:rs119463995Ensembl.1
Natural variantiVAR_033926125G → S in a patient diagnosed with Walker-Warburg syndrome. 1 PublicationCorresponds to variant dbSNP:rs34006675Ensembl.1
Natural variantiVAR_065051170A → E in MDDGA4. 1 PublicationCorresponds to variant dbSNP:rs119464997Ensembl.1
Natural variantiVAR_065052176F → S in MDDGC4. 1 PublicationCorresponds to variant dbSNP:rs119463996Ensembl.1
Natural variantiVAR_039287179R → T in CMD1X. 1 PublicationCorresponds to variant dbSNP:rs119463994Ensembl.1
Natural variantiVAR_033927203R → Q1 PublicationCorresponds to variant dbSNP:rs34787999Ensembl.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 Publication1
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. 3 PublicationsCorresponds to variant dbSNP:rs119463992Ensembl.1
Natural variantiVAR_039289358Q → P in CMD1X. 1 PublicationCorresponds to variant dbSNP:rs119463993Ensembl.1
Natural variantiVAR_065054371Y → C in MDDGA4. 1 PublicationCorresponds to variant dbSNP:rs119464998Ensembl.1
Natural variantiVAR_018279446N → D1 PublicationCorresponds to variant dbSNP:rs41313301Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_045961426 – 461TWKIP…VIQLY → NQQGA in isoform 2. 1 PublicationAdd BLAST36

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]
UniGeneiHs.55777.

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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiFKTN_HUMAN
AccessioniPrimary (citable) accession number: O75072
Secondary accession number(s): B4DUX9
, J3KP13, Q3MIJ1, Q96TE1, Q9P295
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: February 12, 2003
Last modified: November 22, 2017
This is version 147 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families