EC Number |
Recommended Name |
Source Tissue |
Reference |
---|
1.1.1.101 | acylglycerone-phosphate reductase |
skin fibroblast |
Zellweger syndrome cell lines GM0228 and GM4340 and normal control cells |
285689 |
1.13.11.52 | indoleamine 2,3-dioxygenase |
skin fibroblast |
- |
666895 |
1.14.11.18 | phytanoyl-CoA dioxygenase |
skin fibroblast |
- |
285269, 285270 |
1.2.1.48 | long-chain-aldehyde dehydrogenase |
skin fibroblast |
- |
670285 |
1.3.1.72 | DELTA24-sterol reductase |
skin fibroblast |
human skin fibroblast |
288497 |
1.3.8.7 | medium-chain acyl-CoA dehydrogenase |
skin fibroblast |
- |
391325 |
1.3.8.8 | long-chain acyl-CoA dehydrogenase |
skin fibroblast |
- |
391325, 394660, 700578 |
1.4.3.13 | protein-lysine 6-oxidase |
skin fibroblast |
- |
671208 |
1.4.3.4 | monoamine oxidase |
skin fibroblast |
from females. The MAO-A gene is expressed from only one of the two alleles in each female cell |
688479 |
1.5.1.20 | methylenetetrahydrofolate reductase [NAD(P)H] |
skin fibroblast |
- |
437722 |
1.8.3.7 | formylglycine-generating enzyme |
skin fibroblast |
- |
742830 |
1.8.4.2 | protein-disulfide reductase (glutathione) |
skin fibroblast |
- |
394841 |
2.1.1.201 | 2-methoxy-6-polyprenyl-1,4-benzoquinol methylase |
skin fibroblast |
- |
735704 |
2.1.1.202 | multisite-specific tRNA:(cytosine-C5)-methyltransferase |
skin fibroblast |
- |
735907 |
2.3.1.13 | glycine N-acyltransferase |
skin fibroblast |
- |
719434 |
2.3.1.42 | glycerone-phosphate O-acyltransferase |
skin fibroblast |
- |
486964, 486972 |
2.3.1.42 | glycerone-phosphate O-acyltransferase |
skin fibroblast |
cell culture |
486974 |
2.3.1.78 | heparan-alpha-glucosaminide N-acetyltransferase |
skin fibroblast |
- |
661443, 706441 |
2.3.1.78 | heparan-alpha-glucosaminide N-acetyltransferase |
skin fibroblast |
deficiency on fibroblasts from patients with Sanfillippo syndrome type C |
487500, 487505, 487507 |
2.3.1.78 | heparan-alpha-glucosaminide N-acetyltransferase |
skin fibroblast |
the enzyme is present in the lysosomal membranes purified from the normal human skin fibroblasts, but absent in those from the skin fibroblasts of patients with mucopolysaccharidosis IIIC |
676018 |
2.4.1.132 | GDP-Man:Man1GlcNAc2-PP-dolichol alpha-1,3-mannosyltransferase |
skin fibroblast |
- |
636759 |
2.4.1.133 | xylosylprotein 4-beta-galactosyltransferase |
skin fibroblast |
- |
637196, 637198, 675492 |
2.4.1.133 | xylosylprotein 4-beta-galactosyltransferase |
skin fibroblast |
from an Ehlers-Danlos syndrome patient carrying the C808T mutation in the beta4GalT-7 gene, and skin fibroblasts from a healthy age-matched donor. The reduction in galactosyltransferase activity caused by the R270C substitution in beta4GalT-7 leads to a reduction in the sulfation degree of heparan sulfate. The structural alterations, which were particularly prominent for cell-associated heparan sulfate, are paralleled by significantly delayed wound closure in vitro, increased adhesion to fibronectin, a reduced capability to form actin stress fibers, filopodia and collagen gel-contracting forces |
687039 |
2.4.1.142 | chitobiosyldiphosphodolichol beta-mannosyltransferase |
skin fibroblast |
- |
722929 |
2.4.1.212 | hyaluronan synthase |
skin fibroblast |
- |
759505 |
2.4.1.212 | hyaluronan synthase |
skin fibroblast |
type DPK-SKDF-H |
691021 |
2.4.1.38 | beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase |
skin fibroblast |
- |
489520 |
2.4.1.50 | procollagen galactosyltransferase |
skin fibroblast |
- |
698942 |
2.4.1.68 | glycoprotein 6-alpha-L-fucosyltransferase |
skin fibroblast |
- |
489329, 489339 |
2.4.1.90 | N-acetyllactosamine synthase |
skin fibroblast |
- |
489520 |
2.4.2.1 | purine-nucleoside phosphorylase |
skin fibroblast |
- |
489654 |
2.4.2.12 | nicotinamide phosphoribosyltransferase |
skin fibroblast |
from individual with Hutchison-Gilford progeria syndrome associated with premature atherosclerosis, cell lifespan extension upon Nampt overexpression |
680749 |
2.4.2.28 | S-methyl-5'-thioadenosine phosphorylase |
skin fibroblast |
HF cell |
706428 |
2.4.99.18 | dolichyl-diphosphooligosaccharide-protein glycotransferase |
skin fibroblast |
- |
659919 |
2.5.1.151 | alkylcobalamin dealkylase |
skin fibroblast |
- |
751575 |
2.7.1.67 | 1-phosphatidylinositol 4-kinase |
skin fibroblast |
- |
674573 |
2.7.11.31 | [hydroxymethylglutaryl-CoA reductase (NADPH)] kinase |
skin fibroblast |
- |
693151 |
2.7.7.10 | UTP-hexose-1-phosphate uridylyltransferase |
skin fibroblast |
from healthy and galactosemic individuals |
642814 |
2.7.7.9 | UTP-glucose-1-phosphate uridylyltransferase |
skin fibroblast |
from normal and galactosemic individuals |
642814 |
2.7.8.17 | UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase |
skin fibroblast |
- |
135495 |
3.1.2.20 | acyl-CoA hydrolase |
skin fibroblast |
- |
664838 |
3.1.2.22 | palmitoyl[protein] hydrolase |
skin fibroblast |
- |
23910 |
3.1.2.22 | palmitoyl[protein] hydrolase |
skin fibroblast |
very low or no activity |
650862 |
3.1.3.43 | [pyruvate dehydrogenase (acetyl-transferring)]-phosphatase |
skin fibroblast |
patients with congenital lactic acidemia |
94919 |
3.1.4.39 | alkylglycerophosphoethanolamine phosphodiesterase |
skin fibroblast |
- |
665507 |
3.1.4.45 | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase |
skin fibroblast |
- |
135492 |
3.1.6.12 | N-acetylgalactosamine-4-sulfatase |
skin fibroblast |
- |
654646 |
3.1.6.14 | N-acetylglucosamine-6-sulfatase |
skin fibroblast |
fibroblast line GM 2243 |
135583 |
3.1.6.14 | N-acetylglucosamine-6-sulfatase |
skin fibroblast |
in culture |
135580, 135581, 135582, 135583, 135585, 135586, 135587, 135588, 135590 |
3.1.6.18 | glucuronate-2-sulfatase |
skin fibroblast |
- |
646498 |
3.1.6.18 | glucuronate-2-sulfatase |
skin fibroblast |
cell culture |
646497, 646499 |
3.1.6.18 | glucuronate-2-sulfatase |
skin fibroblast |
cell-lines from normal and Hunter's disease, i.e. idurono 2-sulfatase deficient individuals |
646497 |
3.1.6.4 | N-acetylgalactosamine-6-sulfatase |
skin fibroblast |
no detectable enzyme amount in Mucopolysaccheridosis type IVA patients |
679285 |
3.1.6.8 | cerebroside-sulfatase |
skin fibroblast |
- |
653995 |
3.1.6.8 | cerebroside-sulfatase |
skin fibroblast |
human fibroblasts grown in the presence of lead acetate exhibit a 65% decrease in enzyme protein |
653995 |
3.2.1.20 | alpha-glucosidase |
skin fibroblast |
- |
708660 |
3.2.1.45 | glucosylceramidase |
skin fibroblast |
- |
751699 |
3.2.1.46 | galactosylceramidase |
skin fibroblast |
- |
171522, 650861 |
3.2.1.46 | galactosylceramidase |
skin fibroblast |
in culture |
171506, 171508, 171515, 171517, 171519, 171521 |
3.2.1.46 | galactosylceramidase |
skin fibroblast |
Lesch-Nyhan cells |
171514 |
3.2.1.46 | galactosylceramidase |
skin fibroblast |
LMTK-cells |
171514 |
3.2.1.52 | beta-N-acetylhexosaminidase |
skin fibroblast |
- |
393677 |
3.2.1.76 | L-iduronidase |
skin fibroblast |
- |
731638 |
3.2.1.76 | L-iduronidase |
skin fibroblast |
from healthy humans and mucopolysaccharidosis type I patients |
665139 |
3.2.2.15 | DNA-deoxyinosine glycosylase |
skin fibroblast |
- |
171777, 171780 |
3.2.2.15 | DNA-deoxyinosine glycosylase |
skin fibroblast |
HeLa cells nuclear extract |
171780 |
3.2.2.15 | DNA-deoxyinosine glycosylase |
skin fibroblast |
normal human skin fibroblasts CRL-1222, progeroid skin fibroblasts AG-3199 and AG-6917 |
171779 |
3.4.13.9 | Xaa-Pro dipeptidase |
skin fibroblast |
- |
36090, 697758 |
3.4.13.9 | Xaa-Pro dipeptidase |
skin fibroblast |
cell culture |
651190, 651194, 653207 |
3.4.14.9 | tripeptidyl-peptidase I |
skin fibroblast |
- |
681961 |
3.4.17.22 | metallocarboxypeptidase D |
skin fibroblast |
- |
28973 |
3.4.19.12 | ubiquitinyl hydrolase 1 |
skin fibroblast |
level of UCH-L1 mRNA is significantly reduced in fibroblasts of patients affected with lysosomal storage disorders |
679101 |
3.4.21.39 | chymase |
skin fibroblast |
- |
732525 |
3.4.22.38 | cathepsin K |
skin fibroblast |
- |
708423, 710231 |
3.4.22.38 | cathepsin K |
skin fibroblast |
cultured neonatal primary fibroblasts show strong cathepsin K staining in the perinuclear endosomal compartment |
681251 |
3.4.24.56 | insulysin |
skin fibroblast |
- |
755168 |
3.4.24.7 | interstitial collagenase |
skin fibroblast |
- |
666235 |
3.4.24.84 | Ste24 endopeptidase |
skin fibroblast |
- |
669751 |
3.4.24.B4 | matrix metalloproteinase-13 |
skin fibroblast |
- |
712592 |
3.5.1.15 | aspartoacylase |
skin fibroblast |
- |
209005 |
3.5.1.23 | ceramidase |
skin fibroblast |
- |
685316 |
3.5.1.25 | N-acetylglucosamine-6-phosphate deacetylase |
skin fibroblast |
- |
246599 |
3.6.1.9 | nucleotide diphosphatase |
skin fibroblast |
cDNA clones from patients with Lowe's syndrome, homologue to plasma cell membrane glycoprotein PC-1 |
246802 |
3.6.4.6 | vesicle-fusing ATPase |
skin fibroblast |
- |
210583 |
3.6.5.2 | small monomeric GTPase |
skin fibroblast |
proliferation of dermal fibroblasts is crucial for the maintenance of skin. Rac1 activates proliferation of normal fibroblasts through stimulation of c-myc phosphorylation without affecting ERK1/2 activity |
684860 |
3.7.1.2 | fumarylacetoacetase |
skin fibroblast |
- |
289256 |
4.2.1.119 | enoyl-CoA hydratase 2 |
skin fibroblast |
- |
33737 |
4.2.1.18 | methylglutaconyl-CoA hydratase |
skin fibroblast |
cultured |
664619 |
4.3.2.1 | argininosuccinate lyase |
skin fibroblast |
- |
650800 |
5.1.99.4 | alpha-methylacyl-CoA racemase |
skin fibroblast |
- |
2447 |
5.3.4.1 | protein disulfide-isomerase |
skin fibroblast |
- |
746998 |
5.3.4.1 | protein disulfide-isomerase |
skin fibroblast |
cultured, confluent |
439186 |
6.2.1.3 | long-chain-fatty-acid-CoA ligase |
skin fibroblast |
- |
674830 |
6.4.1.3 | propionyl-CoA carboxylase |
skin fibroblast |
- |
661263 |
7.1.1.2 | NADH:ubiquinone reductase (H+-translocating) |
skin fibroblast |
- |
691039, 696382, 696388, 697166 |
7.1.1.2 | NADH:ubiquinone reductase (H+-translocating) |
skin fibroblast |
cell culture |
392697 |
7.1.1.2 | NADH:ubiquinone reductase (H+-translocating) |
skin fibroblast |
complex I activity in cultured skin fibroblasts is in the normal range in a patient with Leigh syndrome, but complex IV/complex I activity ratio is significantly elevated and complex I/citrate synthase is decreased |
694192 |
7.1.1.2 | NADH:ubiquinone reductase (H+-translocating) |
skin fibroblast |
fully assembled complex I is decreased in patient skin fibroblasts |
691049 |
7.2.2.9 | P-type Cu2+ transporter |
skin fibroblast |
- |
669449 |
7.2.2.9 | P-type Cu2+ transporter |
skin fibroblast |
overexpressing ATP7A or ATP7B |
667448 |