Q8R507

PR
Gene name
Fktn
Protein name
Ribitol-5-phosphate transferase FKTN
Names
Fukutin, Fukuyama-type congenital muscular dystrophy protein, Ribitol-5-phosphate transferase
Species
Mus musculus (Mouse)
KEGG Pathway
mmu:246179
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

1-128 (Predicted disordered autoinhibitory region) PR

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

1 structures for Q8R507

Entry ID Method Resolution Chain Position Source
AF-Q8R507-F1 Predicted AlphaFoldDB

15 variants for Q8R507

Variant ID(s) Position Change Description Diseaes Association Provenance
rs3388682745 20 F>V No EVA
rs3388689692 48 V>I No EVA
rs3388680694 58 V>D No EVA
rs3388677254 63 M>I No EVA
rs218038131 88 E>K No EVA
rs249166623 88 E>V No EVA
rs3388685111 141 E>D No EVA
rs3388685158 217 P>Q No EVA
rs3388682709 221 Q>* No EVA
rs249897898 290 D>E No EVA
rs254252893 360 K>E No EVA
rs3388686017 406 D>G No EVA
rs3388684398 408 K>R No EVA
rs243723852 431 I>V No EVA
rs3388682852 448 I>V No EVA

No associated diseases with Q8R507

1 regional properties for Q8R507

Type Name Position InterPro Accession
domain Ribitol-5-phosphate transferase FKTN, N-terminal 1 - 278 IPR045587

Functions

Description
EC Number
Subcellular Localization
  • Golgi apparatus membrane ; Single-pass type II membrane protein
  • Cytoplasm
  • Nucleus
  • Endoplasmic reticulum
  • In retinal tissue, does not localize with the Golgi apparatus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

6 GO annotations of cellular component

Name Definition
cis-Golgi network The network of interconnected tubular and cisternal structures located at the convex side of the Golgi apparatus, which abuts the endoplasmic reticulum.
endoplasmic reticulum The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
Golgi apparatus A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
Golgi membrane The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
integral component of Golgi membrane The component of the Golgi membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

1 GO annotations of molecular function

Name Definition
phosphotransferase activity, for other substituted phosphate groups Catalysis of the transfer of a substituted phosphate group, other than diphosphate or nucleotidyl residues, from one compound (donor) to a another (acceptor).

7 GO annotations of biological process

Name Definition
negative regulation of cell population proliferation Any process that stops, prevents or reduces the rate or extent of cell proliferation.
negative regulation of JNK cascade Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction mediated by the JNK cascade.
neuron migration The characteristic movement of an immature neuron from germinal zones to specific positions where they will reside as they mature.
protein glycosylation A protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins.
protein O-linked glycosylation A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of peptidyl-serine, peptidyl-threonine, peptidyl-hydroxylysine, or peptidyl-hydroxyproline, or via the phenol group of peptidyl-tyrosine, forming an O-glycan.
protein O-linked mannosylation The transfer of mannose from dolichyl activated mannose to the hydroxyl group of a seryl or threonyl residue of a protein acceptor molecule, to form an O-linked protein-sugar linkage.
regulation of protein glycosylation Any process that modulates the frequency, rate or extent of protein glycosylation. Protein glycosylation is the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins.

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
O75072 FKTN Ribitol-5-phosphate transferase FKTN Homo sapiens (Human) PR
10 20 30 40 50 60
MSRINKNVVL ALLTLTSSAF LLFQLYYYKH YLSARNGPGS SKSKGNRVGF DSTQWRAVKK
70 80 90 100 110 120
FIMLTSSQNV PVFLIDPWIL ESINKNFEQV KNASQGPASE CRFFCVPRDF TAFALQYHLW
130 140 150 160 170 180
KNEDGWFRIA ENMGFQCLKT ESKDPRLDGI DSLSGTEIPL HYVCKLTTHA IHLVVFHERS
190 200 210 220 230 240
GNYLWHGHLR LKGHMDRKFV PFRKLQFGRY PGAFDRPELQ QVTVDGLDML IPKDPGRFLE
250 260 270 280 290 300
EVPHSRFIEC RYKEARAFLQ QYIDDNTVDA MVFRKRAKEL LQLAAKTLKD LGVPFWLSSG
310 320 330 340 350 360
TCLGWYRQCG IIPYSKDVDL GIFIQDYKPD IILAFQEAGL PLKHKFGKVE DSLELSFQGK
370 380 390 400 410 420
NDVKLDIFFF YEEADHLWNG GTQARTGKKF KYLFPKFTLC WTEFVDIKVH VPCETVDYIE
430 440 450 460
ANYGKTWKIP IKTWDWKSSP PNVQPNGIWP ISEWDEVIQL Y