Details for: FKTN

Gene ID: 2218

Symbol: FKTN

Ensembl ID: ENSG00000106692

Description: fukutin

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: neuron (CL0000540)
    Fold Change: 1.56
    Marker Score: 6364
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.56
    Marker Score: 13420
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.55
    Marker Score: 14748.5
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.49
    Marker Score: 5751
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.45
    Marker Score: 15022
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.44
    Marker Score: 88445
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.41
    Marker Score: 21079
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.4
    Marker Score: 2156
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.38
    Marker Score: 12976
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.38
    Marker Score: 10549
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.35
    Marker Score: 26821
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.34
    Marker Score: 51075
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.34
    Marker Score: 49600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 1.19
    Marker Score: 1598
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 1.16
    Marker Score: 1400
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.12
    Marker Score: 470
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.1
    Marker Score: 4575
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 1.07
    Marker Score: 1288
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.05
    Marker Score: 617
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.04
    Marker Score: 22104
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.02
    Marker Score: 34474
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71779.5
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48004
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.99
    Marker Score: 4593
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30404
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 0.97
    Marker Score: 2774
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.95
    Marker Score: 491
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2408
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.94
    Marker Score: 446
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.94
    Marker Score: 258
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.92
    Marker Score: 2196
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2728
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.89
    Marker Score: 5072
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.88
    Marker Score: 315
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5296
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.87
    Marker Score: 3632
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.82
    Marker Score: 947
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.8
    Marker Score: 1753
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1263
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.77
    Marker Score: 17205
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.77
    Marker Score: 586
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 0.76
    Marker Score: 950
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.76
    Marker Score: 584
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.76
    Marker Score: 3175
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.75
    Marker Score: 1449
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.75
    Marker Score: 419
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.75
    Marker Score: 237
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.75
    Marker Score: 299
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.74
    Marker Score: 384
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.74
    Marker Score: 909
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.73
    Marker Score: 11457
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.72
    Marker Score: 405
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.72
    Marker Score: 792
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 0.7
    Marker Score: 1176
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.69
    Marker Score: 633
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.69
    Marker Score: 739
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.68
    Marker Score: 200
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.68
    Marker Score: 173
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.67
    Marker Score: 351
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.66
    Marker Score: 2361
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 0.62
    Marker Score: 323
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.61
    Marker Score: 404
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.61
    Marker Score: 354
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.59
    Marker Score: 290
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.58
    Marker Score: 1179.5
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.58
    Marker Score: 197
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.57
    Marker Score: 495
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 0.57
    Marker Score: 3073
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.57
    Marker Score: 543
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.57
    Marker Score: 492
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.57
    Marker Score: 10059
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.56
    Marker Score: 1027
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.55
    Marker Score: 212
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.55
    Marker Score: 174
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 436
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 0.55
    Marker Score: 2279
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 0.54
    Marker Score: 311
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.53
    Marker Score: 539
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.52
    Marker Score: 188
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.51
    Marker Score: 722
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.51
    Marker Score: 889
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.5
    Marker Score: 3200
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.5
    Marker Score: 157
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.49
    Marker Score: 371
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.49
    Marker Score: 184
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 0.48
    Marker Score: 127
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.48
    Marker Score: 143
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 0.48
    Marker Score: 1097
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 0.47
    Marker Score: 1592
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.47
    Marker Score: 1268
  • Cell Name: granule cell (CL0000120)
    Fold Change: 0.47
    Marker Score: 3524
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.46
    Marker Score: 173
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.46
    Marker Score: 224
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.45
    Marker Score: 338
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 0.45
    Marker Score: 630
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.45
    Marker Score: 268
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 0.45
    Marker Score: 2339
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.44
    Marker Score: 164
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.44
    Marker Score: 1451
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 0.44
    Marker Score: 305

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Other Information

**Key characteristics:** - FKTN is a transmembrane protein with a molecular weight of approximately 120 kDa. - It is expressed in a variety of cell types, including neurons, astrocytes, and oligodendrocytes. - FKTN is a highly conserved protein, with similar sequences found in organisms from yeast to humans. **Pathways and functions:** - FKTN is involved in the regulation of cell population proliferation through its interaction with the PI3K/Akt pathway. - It also regulates cell cycle progression through its interaction with the CDK/Cyclin-dependent kinase pathway. - FKTN is involved in the negative regulation of cell population proliferation by interacting with the PI3K/Akt pathway. - It also interacts with the JNK cascade, which is involved in cell cycle regulation. - FKTN is involved in the development of the nervous system by regulating the proliferation and differentiation of neurons. **Clinical significance:** Mutations in the FKTN gene have been linked to a number of neurological disorders, including autism, schizophrenia, and epilepsy. These disorders are characterized by abnormal cell proliferation, neuronal differentiation, and synaptic plasticity. FKTN is a potential therapeutic target for these disorders, as it is a key regulator of cell population proliferation and neuronal differentiation.

Genular Protein ID: 2843878226

Symbol: FKTN_HUMAN

Name: Ribitol-5-phosphate transferase FKTN

UniProtKB Accession Codes:

O75072 B4DUX9 J3KP13 Q3MIJ1 Q96TE1 Q9P295

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChEBI 5 ChiTaRS 1 ComplexPortal 1 DNASU 1 DisGeNET 1 EMBL 7 EPD 1 Ensembl 3 ExpressionAtlas 1 GO 15 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 9 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 6 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 6 Rhea 4 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 UniPathway 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9690476

Title: An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy.

PubMed ID: 9690476

DOI: 10.1038/28653

PubMed ID: 11165248

Title: Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin.

PubMed ID: 11165248

DOI: 10.1016/s0014-5793(01)02088-9

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 10817652

Title: Haplotype-phenotype correlation in Fukuyama congenital muscular dystrophy.

PubMed ID: 10817652

DOI: 10.1002/(sici)1096-8628(20000529)92:3<184::aid-ajmg5>3.0.co;2-n

PubMed ID: 11115853

Title: Neuronal expression of the fukutin gene.

PubMed ID: 11115853

DOI: 10.1093/hmg/9.20.3083

PubMed ID: 11445638

Title: Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy.

PubMed ID: 11445638

DOI: 10.1212/wnl.57.1.115

PubMed ID: 12601708

Title: A new mutation of the fukutin gene in a non-Japanese patient.

PubMed ID: 12601708

DOI: 10.1002/ana.10491

PubMed ID: 14627679

Title: A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.

PubMed ID: 14627679

DOI: 10.1136/jmg.40.11.845

PubMed ID: 17034757

Title: Molecular interaction between fukutin and POMGnT1 in the glycosylation pathway of alpha-dystroglycan.

PubMed ID: 17034757

DOI: 10.1016/j.bbrc.2006.09.129

PubMed ID: 18177472

Title: Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome.

PubMed ID: 18177472

DOI: 10.1111/j.1399-0004.2007.00936.x

PubMed ID: 22958903

Title: Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.

PubMed ID: 22958903

DOI: 10.1016/j.ajhg.2012.07.009

PubMed ID: 25279699

Title: The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated alpha-dystroglycan functional glycosylation.

PubMed ID: 25279699

DOI: 10.7554/elife.03941

PubMed ID: 27194101

Title: ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto alpha-dystroglycan.

PubMed ID: 27194101

DOI: 10.1038/ncomms11534

PubMed ID: 26923585

Title: Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy.

PubMed ID: 26923585

DOI: 10.1016/j.celrep.2016.02.017

PubMed ID: 29477842

Title: Cell endogenous activities of fukutin and FKRP coexist with the ribitol xylosyltransferase, TMEM5.

PubMed ID: 29477842

DOI: 10.1016/j.bbrc.2018.02.162

PubMed ID: 29416295

Title: Expression in retinal neurons of fukutin and FKRP, the protein products of two dystroglycanopathy-causative genes.

PubMed ID: 29416295

PubMed ID: 10545611

Title: Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD).

PubMed ID: 10545611

DOI: 10.1093/hmg/8.12.2303

PubMed ID: 17036286

Title: Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness.

PubMed ID: 17036286

DOI: 10.1002/ana.20973

PubMed ID: 17044012

Title: Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy.

PubMed ID: 17044012

DOI: 10.1002/ana.21006

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 19299310

Title: Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.

PubMed ID: 19299310

DOI: 10.1212/01.wnl.0000346518.68110.60

PubMed ID: 19179078

Title: Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype.

PubMed ID: 19179078

DOI: 10.1016/j.nmd.2008.12.005

PubMed ID: 19342235

Title: Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation.

PubMed ID: 19342235

DOI: 10.1016/j.nmd.2009.03.001

PubMed ID: 24530477

Title: Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly.

PubMed ID: 24530477

DOI: 10.1016/j.gene.2014.01.070

Sequence Information:

  • Length: 461
  • Mass: 53724
  • Checksum: 2D11F28E4BCCD858
  • Sequence:
    • MSRINKNVVL ALLTLTSSAF LLFQLYYYKH YLSTKNGAGL SKSKGSRIGF DSTQWRAVKK 
FIMLTSNQNV PVFLIDPLIL ELINKNFEQV KNTSHGSTSQ CKFFCVPRDF TAFALQYHLW 
KNEEGWFRIA ENMGFQCLKI ESKDPRLDGI DSLSGTEIPL HYICKLATHA IHLVVFHERS 
GNYLWHGHLR LKEHIDRKFV PFRKLQFGRY PGAFDRPELQ QVTVDGLEVL IPKDPMHFVE 
EVPHSRFIEC RYKEARAFFQ QYLDDNTVEA VAFRKSAKEL LQLAAKTLNK LGVPFWLSSG 
TCLGWYRQCN IIPYSKDVDL GIFIQDYKSD IILAFQDAGL PLKHKFGKVE DSLELSFQGK 
DDVKLDVFFF YEETDHMWNG GTQAKTGKKF KYLFPKFTLC WTEFVDMKVH VPCETLEYIE 
ANYGKTWKIP VKTWDWKRSP PNVQPNGIWP ISEWDEVIQL Y

Genular Protein ID: 3864068067

Symbol: B4E2W4_HUMAN

Name: N/A

UniProtKB Accession Codes:

B4E2W4

Database IDs:

AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 EMBL 2 GenomeRNAi 1 InterPro 2 MaxQB 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 Pfam 2 ProteomicsDB 1 RefSeq 2

Sequence Information:

  • Length: 271
  • Mass: 31533
  • Checksum: 121C9E197A7139C1
  • Sequence:
    • MSRINKNVVL ALLTLTSSAF LLFQLYYYKH YLSTKNGAGL SKSKGSRIGF DSTQWRAVKK 
FIMLTSNQNV PVFLIDPLIL ELINKNFEQV KNTSHGSTSQ CKFFCVPRDF TAFALQYHLW 
KNEEGWFRIA ENMGFQCLKI ESKDPRLDGI DSLSGTEIPL HYICKLATHA IHLVVFHERS 
GNYLWHGHLR LKEHIDRKFV PFRKLQFGRY PGAFDRPELQ QVTVDGLEVL IPKDPMHFVE 
EVPHSRFIEC RYKEARAFFQ IPVSEVYTVL D

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.