Sequence Detail

ID/Version

P48410 Q9QY41 Q9QZ32 (UniProt | EBI)

Last sequence update: 1996-02-01
Last annotation update: 2024-11-27

Sequence description from provider

RecName: Full=ATP-binding cassette sub-family D member 1 {ECO:0000305}; EC=3.1.2.- {ECO:0000250|UniProtKB:P33897}; EC=7.6.2.- {ECO:0000250|UniProtKB:P33897};AltName: Full=Adrenoleukodystrophy protein {ECO:0000250|UniProtKB:P33897};

Provider

SWISS-PROT

Sequence

Polypeptide 736 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Abcd1	ATP-binding cassette, sub-family D member 1	84	104	3	9

Sequence references in MGI

J:22184 Sarde CO, et al., cDNA sequence of Aldgh, the mouse homolog of the X-linked adrenoleukodystrophy gene. Mamm Genome. 1994 Dec;5(12):810-3
J:40230 Kobayashi T, et al., Adrenoleukodystrophy protein-deficient mice represent abnormality of very long chain fatty acid metabolism. Biochem Biophys Res Commun. 1997 Mar 27;232(3):631-6
J:42479 Lu JF, et al., A mouse model for X-linked adrenoleukodystrophy. Proc Natl Acad Sci U S A. 1997 Aug 19;94(17):9366-71
J:44812 Forss-Petter S, et al., Targeted inactivation of the X-linked adrenoleukodystrophy gene in mice. J Neurosci Res. 1997 Dec 1;50(5):829-43
J:58016 Berger J, et al., The four murine peroxisomal ABC-transporter genes differ in constitutive, inducible and developmental expression. Eur J Biochem. 1999 Oct;265(2):719-27
J:75388 Pujol A, et al., Late onset neurological phenotype of the X-ALD gene inactivation in mice: a mouse model for adrenomyeloneuropathy. Hum Mol Genet. 2002 Mar 1;11(5):499-505
J:91760 Guimaraes CP, et al., Mouse liver PMP70 and ALDP: homomeric interactions prevail in vivo. Biochim Biophys Acta. 2004 Aug 4;1689(3):235-43
J:94583 Pujol A, et al., Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy. Hum Mol Genet. 2004 Dec 1;13(23):2997-3006
J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
J:136104 Fourcade S, et al., Early oxidative damage underlying neurodegeneration in X-adrenoleukodystrophy. Hum Mol Genet. 2008 Jun 15;17(12):1762-73
J:145625 Fourcade S, et al., A key role for the peroxisomal ABCD2 transporter in fatty acid homeostasis. Am J Physiol Endocrinol Metab. 2009 Jan;296(1):E211-21
J:146101 Singh J, et al., Silencing of Abcd1 and Abcd2 genes sensitizes astrocytes for inflammation: implication for X-adrenoleukodystrophy. J Lipid Res. 2009 Jan;50(1):135-47
J:192378 Baarine M, et al., Evidence of oxidative stress in very long chain fatty acid--treated oligodendrocytes and potentialization of ROS production using RNA interference-directed knockdown of ABCD1 and ACOX1 peroxisomal proteins. Neuroscience. 2012 Jun 28;213:1-18
J:199135 Lopez-Erauskin J, et al., Impaired mitochondrial oxidative phosphorylation in the peroxisomal disease X-linked adrenoleukodystrophy. Hum Mol Genet. 2013 Aug 15;22(16):3296-305
J:220625 Muneer Z, et al., Abcd2 is a strong modifier of the metabolic impairments in peritoneal macrophages of ABCD1-deficient mice. PLoS One. 2014;9(9):e108655
J:234537 Kruska N, et al., Astrocytes and mitochondria from adrenoleukodystrophy protein (ABCD1)-deficient mice reveal that the adrenoleukodystrophy-associated very long-chain fatty acids target several cellular energy-dependent functions. Biochim Biophys Acta. 2015 May;1852(5):925-36
J:263482 Morita M, et al., Brain microsomal fatty acid elongation is increased in abcd1-deficient mouse during active myelination phase. Metab Brain Dis. 2015 Dec;30(6):1359-67
J:263484 Morita M, et al., Very long chain fatty acid beta-oxidation in astrocytes: contribution of the ABCD1-dependent and -independent pathways. Biol Pharm Bull. 2012;35(11):1972-9
J:292518 Huttlin EL, et al., A tissue-specific atlas of mouse protein phosphorylation and expression. Cell. 2010 Dec 23;143(7):1174-89