Abcd1 ATP-binding cassette, sub-family D member 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Abcd1provided by MGI
Official Full Name: ATP-binding cassette, sub-family D member 1provided by MGI
Primary source: MGI:MGI:1349215
See related: Ensembl:ENSMUSG00000031378 AllianceGenome:MGI:1349215
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Ald; ALDP; Aldgh
Summary: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein is likely involved in the peroxisomal transport or catabolism of very long chain fatty acids. Defects in the human gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in duodenum adult (RPKM 45.9), small intestine adult (RPKM 33.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: X A7.3; X 37.39 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (72760203..72782140)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (73716597..73738534)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Increased neurotoxicity of high-density lipoprotein secreted from murine reactive astrocytes deficient in a peroxisomal very-long-chain fatty acid transporter Abcd1.
Title: Increased neurotoxicity of high-density lipoprotein secreted from murine reactive astrocytes deficient in a peroxisomal very-long-chain fatty acid transporter Abcd1.
Abcd1 deficiency accelerates cuprizone-induced oligodendrocyte loss and axonopathy in a demyelinating mouse model of X-linked adrenoleukodystrophy.
Title: Abcd1 deficiency accelerates cuprizone-induced oligodendrocyte loss and axonopathy in a demyelinating mouse model of X-linked adrenoleukodystrophy.
Targeted Brain Delivery of Dendrimer-4-Phenylbutyrate Ameliorates Neurological Deficits in a Long-Term ABCD1-Deficient Mouse Model of X-Linked Adrenoleukodystrophy.
Title: Targeted Brain Delivery of Dendrimer-4-Phenylbutyrate Ameliorates Neurological Deficits in a Long-Term ABCD1-Deficient Mouse Model of X-Linked Adrenoleukodystrophy.
Peroxisome Metabolism Contributes to PIEZO2-Mediated Mechanical Allodynia.
Title: Peroxisome Metabolism Contributes to PIEZO2-Mediated Mechanical Allodynia.
Bone marrow transplantation into Abcd1-deficient mice: Distribution of donor derived-cells and biological characterization of the brain of the recipient mice.
Title: Bone marrow transplantation into Abcd1-deficient mice: Distribution of donor derived-cells and biological characterization of the brain of the recipient mice.
Combined absence of ABCD1 and ABCD2 proteins resulted in the accumulation of very long-chain fatty acids in murine BV-2 cells.
Title: CRISPR/Cas9-mediated knockout of Abcd1 and Abcd2 genes in BV-2 cells: novel microglial models for X-linked Adrenoleukodystrophy.
These results show that ABCD1-deficiency causes metabolic alternation of long-chain fatty acids and VLCFA. Moreover, our results imply a molecular mechanism for the incorporation of saturated or monounsaturated VLCFA into the sn-1 position of phospholipids, and also indicate that the distribution of phospholipids with VLCFA may correlate with the development of X-ALD.
Title: Profiling and Imaging of Phospholipids in Brains of Abcd1-Deficient Mice.
ABCD1 and its homolog ABCD2 exist mainly as homotetramers in the peroxisomal membrane
Title: Peroxisomal ATP-binding cassette transporters form mainly tetramers.
during the active myelination phase the microsomal fatty acid elongation activity is stimulated in abcd1-deficient mice
Title: Brain microsomal fatty acid elongation is increased in abcd1-deficient mouse during active myelination phase.
Deletion of AMPKalpha1 in the mixed glial cells of Abcd1-KO mice induced spontaneous mitochondrial dysfunction
Title: Loss of AMP-activated protein kinase induces mitochondrial dysfunction and proinflammatory response in unstimulated Abcd1-knockout mice mixed glial cells.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Abcd1 (e-PCR), detects polymorphism
- UniSTS:140996

UniSTS:238038 (e-PCR)
- UniSTS:238038

Z33637 (e-PCR)
- UniSTS:125926

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ABC-type fatty-acyl-CoA transporter activity	ISO Inferred from Sequence Orthology more info
enables ABC-type fatty-acyl-CoA transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables ADP binding	ISO Inferred from Sequence Orthology more info
enables ADP binding	ISS Inferred from Sequence or Structural Similarity more info
enables ATP binding	IBA Inferred from Biological aspect of Ancestor more info
enables ATP binding	ISO Inferred from Sequence Orthology more info
enables ATP binding	ISS Inferred from Sequence or Structural Similarity more info
enables ATP hydrolysis activity	ISO Inferred from Sequence Orthology more info
enables ATP hydrolysis activity	ISS Inferred from Sequence or Structural Similarity more info
enables ATPase-coupled transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATPase-coupled transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables ATPase-coupled transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables enzyme binding	IEA Inferred from Electronic Annotation more info
enables enzyme binding	ISO Inferred from Sequence Orthology more info
enables fatty acyl-CoA hydrolase activity	ISO Inferred from Sequence Orthology more info
enables fatty acyl-CoA hydrolase activity	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables long-chain fatty acid transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables long-chain fatty acid transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables long-chain fatty acid transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IEA Inferred from Electronic Annotation more info
enables protein heterodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	IEA Inferred from Electronic Annotation more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables very long-chain fatty acyl-CoA hydrolase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in fatty acid beta-oxidation	IBA Inferred from Biological aspect of Ancestor more info
involved_in fatty acid beta-oxidation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in fatty acid beta-oxidation	ISO Inferred from Sequence Orthology more info
involved_in fatty acid beta-oxidation	ISS Inferred from Sequence or Structural Similarity more info
involved_in fatty acid elongation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in fatty acid homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in fatty-acyl-CoA transport	IEA Inferred from Electronic Annotation more info
involved_in long-chain fatty acid catabolic process	ISO Inferred from Sequence Orthology more info
involved_in long-chain fatty acid catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in long-chain fatty acid import into peroxisome	IBA Inferred from Biological aspect of Ancestor more info
involved_in long-chain fatty acid import into peroxisome	ISO Inferred from Sequence Orthology more info
involved_in long-chain fatty acid import into peroxisome	ISS Inferred from Sequence or Structural Similarity more info
involved_in myelin maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cytokine production involved in inflammatory response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of reactive oxygen species biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron projection maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in peroxisome organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in peroxisome organization	IEA Inferred from Electronic Annotation more info
involved_in peroxisome organization	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of fatty acid beta-oxidation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of fatty acid beta-oxidation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of fatty acid beta-oxidation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of unsaturated fatty acid biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cellular response to oxidative stress	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of fatty acid beta-oxidation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of mitochondrial depolarization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of oxidative phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sterol homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in very long-chain fatty acid catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in very long-chain fatty acid catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in very long-chain fatty acid catabolic process	ISO Inferred from Sequence Orthology more info
involved_in very long-chain fatty acid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in very long-chain fatty acid metabolic process	ISO Inferred from Sequence Orthology more info
involved_in very long-chain fatty acid metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in very long-chain fatty-acyl-CoA catabolic process	ISO Inferred from Sequence Orthology more info
involved_in very long-chain fatty-acyl-CoA catabolic process	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in lysosomal membrane	ISO Inferred from Sequence Orthology more info
located_in lysosomal membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrial membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrial membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrion	HDA more info	PubMed
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in peroxisomal membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in peroxisomal membrane	IDA Inferred from Direct Assay more info	PubMed
located_in peroxisomal membrane	ISO Inferred from Sequence Orthology more info
located_in peroxisome	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: ATP-binding cassette sub-family D member 1

Names: ATP-binding cassette, sub-family D (ALD), member 1; X-linked adrenoleukodystrophy (ALD) gene homolog; adrenoleukodystrophy protein

NP_031461.1

EC 7.6.2.4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_007435.2 → NP_031461.1 ATP-binding cassette sub-family D member 1

See identical proteins and their annotated locations for NP_031461.1

Status: REVIEWED

Source sequence(s)

AL805924, BC079840

Consensus CDS

CCDS30210.1

UniProtKB/Swiss-Prot

P48410, Q9QY41, Q9QZ32

Related

ENSMUSP00000002084.8, ENSMUST00000002084.14

Conserved Domains (3) summary

cd03223
Location:474 → 679

ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D

TIGR00954
Location:1 → 681

3a01203; Peroxysomal Fatty Acyl CoA Transporter (FAT) Family protein

pfam06472
Location:83 → 352

ABC_membrane_2; ABC transporter transmembrane region 2