BRENDA - Enzyme Database
show all sequences of 7.6.2.4

Adrenoleukodystrophy: subcellular localization and degradation of adrenoleukodystrophy protein (ALDP/ABCD1) with naturally occurring missense mutations

Takahashi, N.; Morita, M.; Maeda, T.; Harayama, Y.; Shimozawa, N.; Suzuki, Y.; Furuya, H.; Sato, R.; Kashiwayama, Y.; Imanaka, T.; J. Neurochem. 101, 1632-1643 (2007)

Data extracted from this reference:

Application
Application
Commentary
Organism
medicine
mutations in the gene encoding ALDP result in a devasting neurodegenerative disorder, X-linked adrenoleukodystrophy, X-ALD
Homo sapiens
Cloned(Commentary)
Commentary
Organism
into the pMAM2-BSD, pEGFPN-1 and pcDNA4HisMax TOP vector for transfection of CHO cells, and as templates for the construction of mutant cDNAs
Homo sapiens
Engineering
Amino acid exchange
Commentary
Organism
G116R
naturally occuring missense mutation
Homo sapiens
H667D
naturally occuring missense mutation
Homo sapiens
Q544R
naturally occuring missense mutation
Homo sapiens
R104C
naturally occuring missense mutation
Homo sapiens
R617H
naturally occuring missense mutation
Homo sapiens
S342P
naturally occuring missense mutation
Homo sapiens
S606L
naturally occuring missense mutation
Homo sapiens
S606P
naturally occuring missense mutation
Homo sapiens
Y174C
naturally occuring missense mutation
Homo sapiens
Localization
Localization
Commentary
Organism
GeneOntology No.
Textmining
peroxisomal membrane
-
Homo sapiens
5778
-
Molecular Weight [Da]
Molecular Weight [Da]
Molecular Weight Maximum [Da]
Commentary
Organism
75000
-
monomer, SDS-PAGE and immunoblotting
Homo sapiens
Natural Substrates/ Products (Substrates)
Natural Substrates
Organism
Commentary (Nat. Sub.)
Natural Products
Commentary (Nat. Pro.)
Organism (Nat. Pro.)
Reversibility
ATP + H2O + fatty acyl CoA/cis
Homo sapiens
-
ADP + phosphate + fatty acyl CoA/trans
-
-
?
Organism
Organism
Primary Accession No. (UniProt)
Commentary
Textmining
Homo sapiens
-
-
-
Source Tissue
Source Tissue
Commentary
Organism
Textmining
fibroblast
X-ALD fibroblast lacking ALDP
Homo sapiens
-
Substrates and Products (Substrate)
Substrates
Commentary Substrates
Literature (Substrates)
Organism
Products
Commentary (Products)
Literature (Products)
Organism (Products)
Reversibility
ATP + H2O + fatty acyl CoA/cis
-
688498
Homo sapiens
ADP + phosphate + fatty acyl CoA/trans
-
-
-
?
Subunits
Subunits
Commentary
Organism
dimer
homodimer and heterodimer with other peroxisomal ABC proteins
Homo sapiens
Application (protein specific)
Application
Commentary
Organism
medicine
mutations in the gene encoding ALDP result in a devasting neurodegenerative disorder, X-linked adrenoleukodystrophy, X-ALD
Homo sapiens
Cloned(Commentary) (protein specific)
Commentary
Organism
into the pMAM2-BSD, pEGFPN-1 and pcDNA4HisMax TOP vector for transfection of CHO cells, and as templates for the construction of mutant cDNAs
Homo sapiens
Engineering (protein specific)
Amino acid exchange
Commentary
Organism
G116R
naturally occuring missense mutation
Homo sapiens
H667D
naturally occuring missense mutation
Homo sapiens
Q544R
naturally occuring missense mutation
Homo sapiens
R104C
naturally occuring missense mutation
Homo sapiens
R617H
naturally occuring missense mutation
Homo sapiens
S342P
naturally occuring missense mutation
Homo sapiens
S606L
naturally occuring missense mutation
Homo sapiens
S606P
naturally occuring missense mutation
Homo sapiens
Y174C
naturally occuring missense mutation
Homo sapiens
Localization (protein specific)
Localization
Commentary
Organism
GeneOntology No.
Textmining
peroxisomal membrane
-
Homo sapiens
5778
-
Molecular Weight [Da] (protein specific)
Molecular Weight [Da]
Molecular Weight Maximum [Da]
Commentary
Organism
75000
-
monomer, SDS-PAGE and immunoblotting
Homo sapiens
Natural Substrates/ Products (Substrates) (protein specific)
Natural Substrates
Organism
Commentary (Nat. Sub.)
Natural Products
Commentary (Nat. Pro.)
Organism (Nat. Pro.)
Reversibility
ATP + H2O + fatty acyl CoA/cis
Homo sapiens
-
ADP + phosphate + fatty acyl CoA/trans
-
-
?
Source Tissue (protein specific)
Source Tissue
Commentary
Organism
Textmining
fibroblast
X-ALD fibroblast lacking ALDP
Homo sapiens
-
Substrates and Products (Substrate) (protein specific)
Substrates
Commentary Substrates
Literature (Substrates)
Organism
Products
Commentary (Products)
Literature (Products)
Organism (Products)
Reversibility
ATP + H2O + fatty acyl CoA/cis
-
688498
Homo sapiens
ADP + phosphate + fatty acyl CoA/trans
-
-
-
?
Subunits (protein specific)
Subunits
Commentary
Organism
dimer
homodimer and heterodimer with other peroxisomal ABC proteins
Homo sapiens
Other publictions for EC 7.6.2.4
No.
1st author
Pub Med
title
organims
journal
volume
pages
year
Activating Compound
Application
Cloned(Commentary)
Crystallization (Commentary)
Engineering
General Stability
Inhibitors
KM Value [mM]
Localization
Metals/Ions
Molecular Weight [Da]
Natural Substrates/ Products (Substrates)
Organic Solvent Stability
Organism
Oxidation Stability
Posttranslational Modification
Purification (Commentary)
Reaction
Renatured (Commentary)
Source Tissue
Specific Activity [micromol/min/mg]
Storage Stability
Substrates and Products (Substrate)
Subunits
Temperature Optimum [°C]
Temperature Range [°C]
Temperature Stability [°C]
Turnover Number [1/s]
pH Optimum
pH Range
pH Stability
Cofactor
Ki Value [mM]
pI Value
IC50 Value
Activating Compound (protein specific)
Application (protein specific)
Cloned(Commentary) (protein specific)
Cofactor (protein specific)
Crystallization (Commentary) (protein specific)
Engineering (protein specific)
General Stability (protein specific)
IC50 Value (protein specific)
Inhibitors (protein specific)
Ki Value [mM] (protein specific)
KM Value [mM] (protein specific)
Localization (protein specific)
Metals/Ions (protein specific)
Molecular Weight [Da] (protein specific)
Natural Substrates/ Products (Substrates) (protein specific)
Organic Solvent Stability (protein specific)
Oxidation Stability (protein specific)
Posttranslational Modification (protein specific)
Purification (Commentary) (protein specific)
Renatured (Commentary) (protein specific)
Source Tissue (protein specific)
Specific Activity [micromol/min/mg] (protein specific)
Storage Stability (protein specific)
Substrates and Products (Substrate) (protein specific)
Subunits (protein specific)
Temperature Optimum [°C] (protein specific)
Temperature Range [°C] (protein specific)
Temperature Stability [°C] (protein specific)
Turnover Number [1/s] (protein specific)
pH Optimum (protein specific)
pH Range (protein specific)
pH Stability (protein specific)
pI Value (protein specific)
Expression
General Information
General Information (protein specific)
Expression (protein specific)
KCat/KM [mM/s]
KCat/KM [mM/s] (protein specific)
750514
Violante
Peroxisomes can oxidize mediu ...
Homo sapiens
FASEB J.
33
4355-4364
2019
-
-
1
-
1
-
-
-
1
1
-
6
-
4
-
-
-
-
-
1
-
-
7
-
-
-
-
-
-
-
-
1
-
-
-
-
-
1
1
-
1
-
-
-
-
-
1
1
-
6
-
-
-
-
-
1
-
-
7
-
-
-
-
-
-
-
-
-
-
2
2
-
-
-
749821
Okamoto
Characterization of human ATP ...
Homo sapiens
Biochem. Biophys. Res. Commun.
496
1122-1127
2018
-
-
1
-
-
-
2
-
1
1
-
3
-
3
-
-
1
-
1
-
-
-
9
1
1
-
-
-
1
-
-
1
-
-
-
-
-
3
3
-
-
-
-
4
-
-
3
3
-
3
-
-
-
3
3
-
-
-
9
3
3
-
-
-
3
-
-
-
-
1
3
-
-
-
750860
Andreoletti
Predictive structure and topo ...
Homo sapiens
Int. J. Mol. Sci.
18
E1593-E1607
2017
-
-
1
-
-
3
-
-
1
1
-
3
-
4
-
-
-
-
-
-
-
-
3
2
-
-
-
-
-
-
-
1
-
-
-
-
-
1
3
-
-
3
-
-
-
-
3
3
-
3
-
-
-
-
-
-
-
-
3
4
-
-
-
-
-
-
-
-
-
2
5
-
-
-
751104
Geillon
Peroxisomal ATP-binding casse ...
Mus musculus
J. Biol. Chem.
292
6965-6977
2017
-
-
1
-
-
-
-
-
1
1
4
2
-
2
-
-
-
-
-
2
-
-
2
4
-
-
-
-
-
-
-
1
-
-
-
-
-
2
2
-
-
-
-
-
-
-
2
2
4
2
-
-
-
-
-
3
-
-
2
8
-
-
-
-
-
-
-
-
-
3
6
-
-
-
720022
van Roermund
Peroxisomal fatty acid uptake ...
Saccharomyces cerevisiae, Saccharomyces cerevisiae ATCC 204508
J. Biol. Chem.
287
20144-20153
2012
-
-
-
-
-
-
-
-
1
-
-
-
-
6
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
2
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
2
-
-
-
720023
Hillebrand
Identification of a new fatty ...
Homo sapiens
J. Biol. Chem.
287
210-221
2012
-
-
-
-
-
-
-
-
1
-
-
-
-
1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
1
-
-
-
718980
van Roermund
Differential substrate specifi ...
Homo sapiens
Biochim. Biophys. Acta
1811
148-152
2011
-
-
-
-
1
-
-
-
1
-
-
-
-
4
-
-
-
-
-
-
-
-
2
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
2
-
-
-
-
-
1
-
-
-
-
-
-
-
-
-
-
-
2
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
712319
Iwashita
Multiple organelle-targeting s ...
Homo sapiens
J. Biochem.
147
581-590
2010
-
-
1
-
1
-
-
-
3
-
-
-
-
1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
-
-
1
-
-
-
-
-
3
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
713285
Kanai
A peroxisomal ABC transporter ...
Arabidopsis thaliana
Plant J.
62
936-947
2010
-
-
-
-
-
-
-
-
-
-
-
-
-
2
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
1
-
-
-
719885
Nyathi
The Arabidopsis peroxisomal AB ...
Arabidopsis thaliana
J. Biol. Chem.
285
29892-29902
2010
-
-
-
-
2
-
1
-
3
-
-
-
-
4
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
2
-
-
1
-
-
3
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
698076
Boisnard
Peroxisomal ABC transporters a ...
Podospora anserina
Fungal Genet. Biol.
46
55-66
2009
-
-
1
-
1
-
-
-
1
-
-
4
-
3
-
-
-
-
-
-
-
-
4
-
-
-
-
-
-
-
-
1
-
-
-
-
-
2
2
-
2
-
-
-
-
-
2
-
-
4
-
-
-
-
-
-
-
-
4
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
689174
Di Benedetto
RNAi-mediated silencing of ABC ...
Rattus norvegicus
Neurochem. Int.
52
1106-1113
2008
-
1
-
-
-
-
1
-
1
-
-
1
-
3
-
-
-
-
-
2
-
-
1
-
-
-
-
-
-
-
-
-
-
-
-
-
1
-
-
-
-
-
-
1
-
-
1
-
-
1
-
-
-
-
-
2
-
-
1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
696484
Leclercq
Effect of dietary polyunsatura ...
Rattus norvegicus
Biochimie
90
1602-1607
2008
-
-
-
-
-
-
-
-
1
-
-
2
-
2
-
-
-
-
-
3
-
-
3
-
-
-
-
-
-
-
-
1
-
-
-
-
-
-
1
-
-
-
-
-
-
-
1
-
-
2
-
-
-
-
-
3
-
-
3
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
697851
van Roermund
The human peroxisomal ABC half ...
Saccharomyces cerevisiae, Saccharomyces cerevisiae BJ1991
FASEB J.
22
4201-4208
2008
-
-
1
-
-
-
-
-
2
-
-
2
-
7
-
-
-
-
-
-
-
-
6
2
-
-
-
-
-
-
-
1
-
-
-
-
-
1
1
-
-
-
-
-
-
-
2
-
-
2
-
-
-
-
-
-
-
-
6
2
-
-
-
-
-
-
-
-
-
-
-
-
-
-
687606
Hillebrand
Live cell FRET microscopy: hom ...
Homo sapiens
J. Biol. Chem.
282
26997-27005
2007
-
1
1
-
5
-
-
-
2
-
1
1
-
2
-
-
-
-
-
-
-
-
1
1
-
-
-
-
-
-
-
-
-
-
-
-
1
1
-
-
5
-
-
-
-
-
2
-
1
1
-
-
-
-
-
-
-
-
1
1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
688498
Takahashi
Adrenoleukodystrophy: subcellu ...
Homo sapiens
J. Neurochem.
101
1632-1643
2007
-
1
1
-
9
-
-
-
1
-
1
1
-
2
-
-
-
-
-
1
-
-
1
1
-
-
-
-
-
-
-
-
-
-
-
-
1
1
-
-
9
-
-
-
-
-
1
-
1
1
-
-
-
-
-
1
-
-
1
1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
689002
Kemp
X-linked adrenoleukodystrophy: ...
Mammalia, Saccharomyces cerevisiae
Mol. Genet. Metab.
90
268-276
2007
-
1
1
-
-
-
-
-
2
-
-
2
-
4
-
-
-
-
-
5
-
-
2
2
-
-
-
-
-
-
-
-
-
-
-
-
1
1
-
-
-
-
-
-
-
-
2
-
-
2
-
-
-
-
-
5
-
-
2
2
-
-
-
-
-
-
-
-
-
-
-
-
-
-
667429
Gueugnon
A novel cell model to study th ...
Rattus norvegicus
Biochem. Biophys. Res. Commun.
341
150-157
2006
1
-
-
-
-
-
-
-
-
-
2
-
-
2
-
-
-
-
-
1
-
-
1
-
-
-
-
-
-
-
-
-
-
-
-
1
-
-
-
-
-
-
-
-
-
-
-
-
2
-
-
-
-
-
-
1
-
-
1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
667893
Morita
ATP-binding and -hydrolysis ac ...
Rattus norvegicus
Biol. Pharm. Bull.
29
1836-1842
2006
-
-
1
-
-
-
1
-
5
-
1
-
-
3
-
-
1
1
-
1
2
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
-
-
-
-
-
1
-
-
5
-
1
-
-
-
-
1
-
1
2
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
667804
Kashiwayama
Role of Pex19p in the targetin ...
Homo sapiens
Biochim. Biophys. Acta
1746
116-128
2005
1
-
-
-
-
-
-
-
1
-
1
-
-
1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
-
-
-
-
-
-
-
-
-
-
1
-
1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
656347
Van Roermund
The peroxisomal lumen in Sacch ...
Saccharomyces cerevisiae
J. Cell Sci.
117
4231-4237
2004
-
-
-
-
1
-
-
-
1
-
-
1
-
2
-
-
-
-
-
-
-
-
1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
-
-
-
-
-
1
-
-
1
-
-
-
-
-
-
-
-
1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
667776
Guimaraes
Mouse liver PMP70 and ALDP: ho ...
Mus musculus
Biochim. Biophys. Acta
1689
235-243
2004
-
-
-
-
-
-
-
-
-
-
3
-
-
2
-
-
1
-
-
2
-
-
-
1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
3
-
-
-
-
1
-
2
-
-
-
1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
656975
Hayashi
Ped3 is a peroxisomal ATP-bind ...
Arabidopsis thaliana
Plant Cell Physiol.
43
1-11
2002
-
-
1
-
1
-
-
-
1
-
1
-
-
1
-
-
-
-
-
-
-
-
-
1
-
-
-
-
-
-
-
-
-
-
-
-
-
1
-
-
1
-
-
-
-
-
1
-
1
-
-
-
-
-
-
-
-
-
-
1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
210404
Hettema
Transport of fatty acids and m ...
Saccharomyces cerevisiae
Biochim. Biophys. Acta
1486
18-27
2000
-
-
-
-
-
-
-
-
1
-
-
1
-
1
-
-
-
-
-
-
-
-
2
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
-
-
1
-
-
-
-
-
-
-
-
2
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
210408
Imanaka
Characterization of the 70-kDa ...
Rattus norvegicus
J. Biol. Chem.
274
11968-11976
1999
-
-
1
-
-
-
-
-
3
-
-
1
-
3
-
-
-
-
-
2
-
-
2
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
-
-
-
-
-
-
-
-
3
-
-
1
-
-
-
-
-
2
-
-
2
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
210409
Liu
Homo- and heterodimerization o ...
Homo sapiens, Mus musculus
J. Biol. Chem.
274
32738-32743
1999
-
-
-
-
-
-
-
-
-
-
-
1
-
3
-
-
-
-
-
-
-
-
3
2
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
-
-
-
-
-
-
-
-
3
2
-
-
-
-
-
-
-
-
-
-
-
-
-
-
210410
Netik
Adrenoleukodystrophy-related p ...
Homo sapiens, Mus musculus
Hum. Mol. Genet.
8
907-913
1999
-
2
-
-
-
-
-
-
-
-
-
-
-
4
-
-
-
-
-
1
-
-
2
-
-
-
-
-
-
-
-
-
-
-
-
-
2
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
-
-
2
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
210406
Gartner
Genomic organization of the 70 ...
Homo sapiens
Genomics
48
203-208
1998
-
-
1
-
-
-
-
-
3
-
-
1
-
4
-
-
-
-
-
-
-
-
2
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
-
-
-
-
-
-
-
-
3
-
-
1
-
-
-
-
-
-
-
-
2
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
210412
Verleur
Transport of activated fatty a ...
Saccharomyces cerevisiae, Saccharomyces cerevisiae Pxa2p
Eur. J. Biochem.
249
657-661
1997
-
-
-
-
-
-
-
-
-
-
-
2
-
4
-
-
-
-
-
-
-
-
6
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
2
-
-
-
-
-
-
-
-
6
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
210405
Contreras
Topology of ATP-binding domain ...
Rattus norvegicus
Arch. Biochem. Biophys.
334
369-379
1996
-
-
-
-
-
-
-
-
1
-
2
1
-
1
-
-
1
-
-
1
-
-
2
1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
-
2
1
-
-
-
1
-
1
-
-
2
1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
210407
Hettema
The ABC transporter proteins P ...
Saccharomyces cerevisiae
EMBO J.
15
3813-3822
1996
-
-
-
-
-
-
-
-
2
-
-
2
-
2
-
-
-
-
-
-
-
-
3
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
2
-
-
2
-
-
-
-
-
-
-
-
3
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
210411
Shani
A Saccharomyces cerevisiae hom ...
Homo sapiens, Saccharomyces cerevisiae
Proc. Natl. Acad. Sci. USA
93
11901-11906
1996
-
-
-
-
-
-
-
-
5
-
-
-
-
4
-
-
-
-
-
-
-
-
2
2
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
5
-
-
-
-
-
-
-
-
-
-
-
2
2
-
-
-
-
-
-
-
-
-
-
-
-
-
-
210403
Kamijo
The 70-kDa peroxisomal membran ...
Rattus norvegicus
J. Biol. Chem.
265
4534-4540
1990
-
-
1
-
-
-
-
-
3
-
-
1
-
2
-
-
-
-
-
2
-
-
2
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
-
-
-
-
-
-
-
-
3
-
-
1
-
-
-
-
-
2
-
-
2
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-