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Literature summary for 2.4.1.133 extracted from
- Biochemical and thermodynamic characterization of mutated beta1,4-galactosyltransferase 7 involved in the progeroid form of the Ehlers-Danlos syndrome (2010), Biochem. J., 432, 303-311.
Cloned(Commentary)
| Cloned (Comment) | Organism |
|---|---|
| expressed in in CHO618 cells as membrane protein and in Escherichia coli as soluble protein fused to maltose-binding protein | Homo sapiens |
| mutated beta1,4-GalT7s are expressed as soluble maltose-binding protein fusions in which the N-terminal cytoplasmic domain, the transmembrane segment and the stem region, which precede the catalytic domain and correspond to amino acids 1-81, are deleted | Homo sapiens |
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| A186D | mutant shows decreased enzymatic activity compared to wild-type, Km towards donor and acceptor substrate increased compared to wild-type | Homo sapiens |
| A186D | the mutation is associated with the progeroid form of the Ehlers-Danlos syndrome and with the reduction of enzyme activity. The mutation weakly impairs the binding of the donor substrate. Glycosaminoglycan biosynthesis is slightly affected by the mutation | Homo sapiens |
| DELTA1-81 | deletion construct is enzymatically active with Km values similar to wild-type towards donor and acceptor substrate, kcat higher compared to full-length wild-type | Homo sapiens |
| DELTA1-81/A186D | kcat values similar to wild-type DELTA1-81 construct, Km values towards donor and acceptor substrates increased compared to wild-type | Homo sapiens |
| DELTA1-81/L206P | in contrast to full-length mutant L206P this deletion mutant is enzymatically active, kcat values similar to wild-type DELTA1-81 construct, Km values towards donor and acceptor substrates increased compared to wild-type | Homo sapiens |
| DELTA1-81/R270C | kcat values similar to wild-type DELTA1-81 construct, Km values towards donor and acceptor substrates increased compared to wild-type | Homo sapiens |
| L206A | mutant shows similar enzymatic activity compared to wild-type, Km towards donor substrate similar to wild-type, increased towards acceptor substrate | Homo sapiens |
| L206P | mutant is inactive | Homo sapiens |
| L206P | the mutation is associated with the progeroid form of the Ehlers-Danlos syndrome and with the reduction of enzyme activity. Glycosaminoglycan biosynthesis is fully inhibited by the mutation | Homo sapiens |
| R270C | mutant shows similar enzymatic activity compared to wild-type, Km towards donor substrate weakly increased compared to wild-type and strongly increased towards acceptor substrate | Homo sapiens |
| R270C | the mutation is associated with the progeroid form of the Ehlers-Danlos syndrome and with the reduction of enzyme activity. The mutation strongly impairs the binding of the acceptor substrate. Glycosaminoglycan biosynthesis is decreased by the mutation | Homo sapiens |
KM Value [mM]
| KM Value [mM] | KM Value Maximum [mM] | Substrate | Comment | Organism | Structure |
|---|---|---|---|---|---|
| 0.23 | - |
UDP-galactose | DELTA1-81, wild-type, pH and temperature not specified in the publication | Homo sapiens |  |
| 0.23 | - |
UDP-galactose | wild type enzyme, in 100 mM cacodylate buffer (pH 7.0) containing 10 mM MnCl2, temperature not specified in the publication | Homo sapiens | |
| 0.27 | - |
4-methylumbelliferyl-beta-D-xylopyranoside | DELTA1-81, wild-type, pH and temperature not specified in the publication | Homo sapiens | |
| 0.27 | - |
4-methylumbelliferyl O-beta-D-xylopyranoside | wild type enzyme, in 100 mM cacodylate buffer (pH 7.0) containing 10 mM MnCl2, temperature not specified in the publication | Homo sapiens | |
| 0.29 | - |
UDP-galactose | wild-type, pH and temperature not specified in the publication | Homo sapiens | |
| 0.31 | - |
UDP-galactose | mutant L206A, pH and temperature not specified in the publication | Homo sapiens | |
| 0.49 | - |
UDP-galactose | mutant R270C, pH and temperature not specified in the publication | Homo sapiens | |
| 0.63 | - |
UDP-galactose | DELTA1-81, mutant R270C, pH and temperature not specified in the publication | Homo sapiens | |
| 0.63 | - |
UDP-galactose | mutant enzyme R270C, in 100 mM cacodylate buffer (pH 7.0) containing 10 mM MnCl2, temperature not specified in the publication | Homo sapiens | |
| 0.65 | - |
UDP-galactose | DELTA1-81, mutant L206P, pH and temperature not specified in the publication | Homo sapiens | |
| 0.65 | - |
UDP-galactose | mutant enzyme L206P, in 100 mM cacodylate buffer (pH 7.0) containing 10 mM MnCl2, temperature not specified in the publication | Homo sapiens | |
| 0.85 | - |
4-nitrophenyl-beta-D-xylopyranoside | wild-type, pH and temperature not specified in the publication | Homo sapiens | |
| 1.27 | - |
4-nitrophenyl-beta-D-xylopyranoside | DELTA1-81, wild-type, pH and temperature not specified in the publication | Homo sapiens | |
| 1.27 | - |
4-nitrophenyl O-beta-D-xylopyranoside | wild type enzyme, in 100 mM cacodylate buffer (pH 7.0) containing 10 mM MnCl2, temperature not specified in the publication | Homo sapiens | |
| 2.07 | - |
UDP-galactose | DELTA1-81, mutant A186D, pH and temperature not specified in the publication | Homo sapiens | |
| 2.07 | - |
UDP-galactose | mutant enzyme A186D, in 100 mM cacodylate buffer (pH 7.0) containing 10 mM MnCl2, temperature not specified in the publication | Homo sapiens | |
| 2.26 | - |
4-methylumbelliferyl-beta-D-xylopyranoside | DELTA1-81, mutant A186D, pH and temperature not specified in the publication | Homo sapiens | |
| 2.26 | - |
4-methylumbelliferyl O-beta-D-xylopyranoside | mutant enzyme A186D, in 100 mM cacodylate buffer (pH 7.0) containing 10 mM MnCl2, temperature not specified in the publication | Homo sapiens | |
| 2.29 | - |
4-nitrophenyl-beta-D-xylopyranoside | mutant L206A, pH and temperature not specified in the publication | Homo sapiens | |
| 2.41 | - |
UDP-galactose | mutant A186D, pH and temperature not specified in the publication | Homo sapiens | |
| 2.99 | - |
4-methylumbelliferyl-beta-D-xylopyranoside | DELTA1-81, mutant L206P, pH and temperature not specified in the publication | Homo sapiens | |
| 2.99 | - |
4-methylumbelliferyl O-beta-D-xylopyranoside | mutant enzyme L206P, in 100 mM cacodylate buffer (pH 7.0) containing 10 mM MnCl2, temperature not specified in the publication | Homo sapiens | |
| 3.26 | - |
4-methylumbelliferyl-beta-D-xylopyranoside | DELTA1-81, mutant R270C, pH and temperature not specified in the publication | Homo sapiens | |
| 3.26 | - |
4-methylumbelliferyl O-beta-D-xylopyranoside | mutant enzyme R270C, in 100 mM cacodylate buffer (pH 7.0) containing 10 mM MnCl2, temperature not specified in the publication | Homo sapiens | |
| 3.76 | - |
4-nitrophenyl-beta-D-xylopyranoside | mutant A186D, pH and temperature not specified in the publication | Homo sapiens | |
| 4.25 | - |
4-nitrophenyl-beta-D-xylopyranoside | DELTA1-81, mutant A186D, pH and temperature not specified in the publication | Homo sapiens | |
| 4.25 | - |
4-nitrophenyl O-beta-D-xylopyranoside | mutant enzyme A186D, in 100 mM cacodylate buffer (pH 7.0) containing 10 mM MnCl2, temperature not specified in the publication | Homo sapiens | |
| 5.01 | - |
4-nitrophenyl-beta-D-xylopyranoside | mutant R270C, pH and temperature not specified in the publication | Homo sapiens | |
| 5.54 | - |
4-nitrophenyl-beta-D-xylopyranoside | DELTA1-81, mutant L206P, pH and temperature not specified in the publication | Homo sapiens | |
| 5.54 | - |
4-nitrophenyl O-beta-D-xylopyranoside | mutant enzyme L206P, in 100 mM cacodylate buffer (pH 7.0) containing 10 mM MnCl2, temperature not specified in the publication | Homo sapiens | |
| 7.93 | - |
4-nitrophenyl-beta-D-xylopyranoside | DELTA1-81, mutant R270C, pH and temperature not specified in the publication | Homo sapiens | |
| 7.93 | - |
4-nitrophenyl O-beta-D-xylopyranoside | mutant enzyme R270C, in 100 mM cacodylate buffer (pH 7.0) containing 10 mM MnCl2, temperature not specified in the publication | Homo sapiens | |
Localization
| Localization | Comment | Organism | GeneOntology No. | Textmining |
|---|---|---|---|---|
| membrane | - |
Homo sapiens | 16020 | - |
Molecular Weight [Da]
| Molecular Weight [Da] | Molecular Weight Maximum [Da] | Comment | Organism |
|---|---|---|---|
| 37000 | - |
SDS-PAGE | Homo sapiens |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
- |
- |
Substrates and Products (Substrate)
| Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
|---|---|---|---|---|---|---|
| 4-nitrophenyl beta-D-xylopyranoside + UDP-alpha-D-galactose | - |
Homo sapiens | UDP + 4-nitrophenyl 4-O-beta-D-galactopyranosyl-beta-D-xylopyranoside | - |
? | |
| UDP-alpha-D-galactose + 4-methylumbelliferyl beta-D-xylopyranoside | - |
Homo sapiens | UDP + 4-methylumbelliferyl 4-O-beta-D-galactopyranosyl-beta-D-xylopyranoside | - |
? | |
| UDP-galactose + 4-methylumbelliferyl O-beta-D-xylopyranoside | - |
Homo sapiens | UDP + 4-methylumbelliferyl 4-O-beta-D-galacto-pyranosyl-beta-D-xylopyranoside | - |
? | |
| UDP-galactose + 4-nitrophenyl O-beta-D-xylopyranoside | - |
Homo sapiens | UDP + 4-nitrophenyl 4-O-beta-D-galacto-pyranosyl-beta-D-xylopyranoside | - |
? | |
Subunits
| Subunits | Comment | Organism |
|---|---|---|
| ? | x * 37000, SDS-PAGE | Homo sapiens |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| B4GALT7 | - |
Homo sapiens |
| beta1,4-galactosyltransferase 7 | - |
Homo sapiens |
| beta1,4-GalT7 | - |
Homo sapiens |
Turnover Number [1/s]
| Turnover Number Minimum [1/s] | Turnover Number Maximum [1/s] | Substrate | Comment | Organism | Structure |
|---|---|---|---|---|---|
| 0.028 | - |
UDP-galactose | wild-type, pH and temperature not specified in the publication | Homo sapiens | |
| 1 | - |
UDP-galactose | DELTA1-81, mutant A186D, pH and temperature not specified in the publication | Homo sapiens | |
| 1 | - |
UDP-galactose | mutant enzyme A186D, in 100 mM cacodylate buffer (pH 7.0) containing 10 mM MnCl2, temperature not specified in the publication | Homo sapiens | |
| 1.05 | - |
UDP-galactose | DELTA1-81, mutant R270C, pH and temperature not specified in the publication | Homo sapiens | |
| 1.05 | - |
UDP-galactose | mutant enzyme R270C, in 100 mM cacodylate buffer (pH 7.0) containing 10 mM MnCl2, temperature not specified in the publication | Homo sapiens | |
| 1.06 | - |
UDP-galactose | DELTA1-81, mutant L206P, pH and temperature not specified in the publication | Homo sapiens | |
| 1.06 | - |
UDP-galactose | mutant enzyme L206P, in 100 mM cacodylate buffer (pH 7.0) containing 10 mM MnCl2, temperature not specified in the publication | Homo sapiens | |
| 1.11 | - |
UDP-galactose | DELTA1-81, wild-type, pH and temperature not specified in the publication | Homo sapiens | |
| 1.11 | - |
UDP-galactose | wild type enzyme, in 100 mM cacodylate buffer (pH 7.0) containing 10 mM MnCl2, temperature not specified in the publication | Homo sapiens | |
kcat/KM [mM/s]
| kcat/KM Value [1/mMs-1] | kcat/KM Value Maximum [1/mMs-1] | Substrate | Comment | Organism | Structure |
|---|---|---|---|---|---|
| 0.13 | - |
4-nitrophenyl O-beta-D-xylopyranoside | mutant enzyme R270C, in 100 mM cacodylate buffer (pH 7.0) containing 10 mM MnCl2, temperature not specified in the publication | Homo sapiens | |
| 0.22 | - |
4-nitrophenyl O-beta-D-xylopyranoside | mutant enzyme L206P, in 100 mM cacodylate buffer (pH 7.0) containing 10 mM MnCl2, temperature not specified in the publication | Homo sapiens | |
| 0.3 | - |
4-nitrophenyl O-beta-D-xylopyranoside | mutant enzyme A186D, in 100 mM cacodylate buffer (pH 7.0) containing 10 mM MnCl2, temperature not specified in the publication | Homo sapiens | |
| 0.35 | - |
4-methylumbelliferyl O-beta-D-xylopyranoside | mutant enzyme L206P, in 100 mM cacodylate buffer (pH 7.0) containing 10 mM MnCl2, temperature not specified in the publication | Homo sapiens | |
| 0.43 | - |
4-methylumbelliferyl O-beta-D-xylopyranoside | mutant enzyme A186D, in 100 mM cacodylate buffer (pH 7.0) containing 10 mM MnCl2, temperature not specified in the publication | Homo sapiens | |
| 0.48 | - |
UDP-galactose | mutant enzyme A186D, in 100 mM cacodylate buffer (pH 7.0) containing 10 mM MnCl2, temperature not specified in the publication | Homo sapiens | |
| 1.32 | - |
4-nitrophenyl O-beta-D-xylopyranoside | wild type enzyme, in 100 mM cacodylate buffer (pH 7.0) containing 10 mM MnCl2, temperature not specified in the publication | Homo sapiens | |
| 1.63 | - |
UDP-galactose | mutant enzyme L206P, in 100 mM cacodylate buffer (pH 7.0) containing 10 mM MnCl2, temperature not specified in the publication | Homo sapiens | |
| 1.67 | - |
UDP-galactose | mutant enzyme R270C, in 100 mM cacodylate buffer (pH 7.0) containing 10 mM MnCl2, temperature not specified in the publication | Homo sapiens | |
| 3.12 | - |
4-methylumbelliferyl O-beta-D-xylopyranoside | mutant enzyme R270C, in 100 mM cacodylate buffer (pH 7.0) containing 10 mM MnCl2, temperature not specified in the publication | Homo sapiens | |
| 4.12 | - |
4-methylumbelliferyl O-beta-D-xylopyranoside | wild type enzyme, in 100 mM cacodylate buffer (pH 7.0) containing 10 mM MnCl2, temperature not specified in the publication | Homo sapiens | |
| 4.82 | - |
UDP-galactose | wild type enzyme, in 100 mM cacodylate buffer (pH 7.0) containing 10 mM MnCl2, temperature not specified in the publication | Homo sapiens | |
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