Abcd3 ATP-binding cassette, sub-family D member 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Abcd3provided by MGI
Official Full Name: ATP-binding cassette, sub-family D member 3provided by MGI
Primary source: MGI:MGI:1349216
See related: Ensembl:ENSMUSG00000028127 AllianceGenome:MGI:1349216
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: PMP68; PMP70; Pxmp1
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 likely plays an important role in peroxisome biogenesis. Mutations have been associated with some forms of Zellweger syndrome, a heterogeneous group of peroxisome assembly disorders. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in liver adult (RPKM 16.9), bladder adult (RPKM 15.9) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 G1; 3 52.94 cM

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (121552553..121609851, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (121758904..121815302, complement)

Chromosome 3 - NC_000069.7 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?

The peroxisomal transporter ABCD3 plays a major role in hepatic dicarboxylic fatty acid metabolism and lipid homeostasis.
Title: The peroxisomal transporter ABCD3 plays a major role in hepatic dicarboxylic fatty acid metabolism and lipid homeostasis.
The D-bifunctional protein (HSD17B4) and the peroxisomal ABC transporter ABCD3 are essential in peroxisomal oxidation of lauric and palmitic acid. ABCD3 is involved in the peroxisomal generation of C8- and C6-carnitine.
Title: Peroxisomes can oxidize medium- and long-chain fatty acids through a pathway involving ABCD3 and HSD17B4.
Abcd3-/- mice accumulated the branched chain fatty acid phytanic acid after phytol loading.
Title: A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3.
investigation of organelle-targeting properties of N-terminal portions of peroxisomal PMP70; mouse full-length sequence & deletion sequences used as probes for intracellular targeting in COS cells
Title: Multiple organelle-targeting signals in the N-terminal portion of peroxisomal membrane protein PMP70.
PPARalpha up-regulates the expression of Abcd3 in small intestine.
Title: PPARalpha agonists positively and negatively regulate the expression of several nutrient/drug transporters in mouse small intestine.
reduction of PMP70 might underlie decrease in peroxisomal functions and increase in oxidative stress in amyotrophic lateral sclerosis
Title: Age-related changes in peroxisomal membrane protein 70 and superoxide dismutase 1 in transgenic G93A mice.
characterization of the quaternary structure and identification as a homomeric protein
Title: Mouse liver PMP70 and ALDP: homomeric interactions prevail in vivo.

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Variation

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Alleles

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

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH136505 (e-PCR)
- UniSTS:210488

NoName (e-PCR)
- UniSTS:234814

AI313901 (e-PCR)
- UniSTS:159185

AW146054 (e-PCR)
- UniSTS:178925

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ABC-type transporter activity	IEA Inferred from Electronic Annotation 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 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 homodimerization activity	IEA Inferred from Electronic Annotation more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in bile acid and bile salt transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in bile acid biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in fatty acid beta-oxidation	IBA Inferred from Biological aspect of Ancestor more info
involved_in fatty acid beta-oxidation	IEA Inferred from Electronic Annotation more info
involved_in fatty acid beta-oxidation	ISO Inferred from Sequence Orthology more info
involved_in fatty acid biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in fatty acid biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in lipid transport	IMP Inferred from Mutant Phenotype more info	PubMed
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 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 phytanic acid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to organic cyclic compound	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
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	IEA Inferred from Electronic Annotation more info
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	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in mitochondrial inner membrane	HDA more info	PubMed
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in peroxisomal matrix	IEA Inferred from Electronic Annotation more info
located_in peroxisomal matrix	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	IDA Inferred from Direct Assay more info	PubMed
located_in peroxisome	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: ATP-binding cassette sub-family D member 3

Names: 68 kDa peroxisomal membrane protein; 70 kDa peroxisomal membrane protein; ATP-binding cassette, sub-family D (ALD), member 3; peroxisomal membrane protein 1; peroxisomal membrane protein, 70 kDa

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_001355756.2 → NP_001342685.1 ATP-binding cassette sub-family D member 3 isoform 2

Status: VALIDATED

Source sequence(s)

AC129311

UniProtKB/TrEMBL

Q3U645, Q3UNS0, Q91VT3, Q9DBZ6

Conserved Domains (1) summary

TIGR00954
Location:1 → 574

3a01203; Peroxysomal Fatty Acyl CoA Transporter (FAT) Family protein
NM_001409848.1 → NP_001396777.1 ATP-binding cassette sub-family D member 3 isoform 3

Status: VALIDATED

Source sequence(s)

AC129311

UniProtKB/TrEMBL

Q3U645, Q3UNS0, Q91VT3, Q9DBZ6
NM_001409849.1 → NP_001396778.1 ATP-binding cassette sub-family D member 3 isoform 4

Status: VALIDATED

Source sequence(s)

AC129311

UniProtKB/TrEMBL

Q3U645, Q3UNS0, Q91VT3, Q9DBZ6
NM_001409850.1 → NP_001396779.1 ATP-binding cassette sub-family D member 3 isoform 5

Status: VALIDATED

Source sequence(s)

AC129311

UniProtKB/TrEMBL

A0A0G2JDI9, Q3U645, Q3UNS0, Q91VT3, Q9DBZ6

Related

ENSMUSP00000142387.2, ENSMUST00000197383.5
NM_001409851.1 → NP_001396780.1 ATP-binding cassette sub-family D member 3 isoform 2

Status: VALIDATED

Source sequence(s)

AC129311

UniProtKB/TrEMBL

Q3U645, Q3UNS0, Q91VT3, Q9DBZ6
NM_008991.4 → NP_033017.2 ATP-binding cassette sub-family D member 3 isoform 1

See identical proteins and their annotated locations for NP_033017.2

Status: VALIDATED

Source sequence(s)

AC129311

Consensus CDS

CCDS17806.1

UniProtKB/Swiss-Prot

P55096

UniProtKB/TrEMBL

Q3U645, Q3UNS0, Q91VT3, Q9DBZ6

Related

ENSMUSP00000029770.6, ENSMUST00000029770.8

Conserved Domains (3) summary

cd03223
Location:440 → 645

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

TIGR00954
Location:1 → 647

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

pfam06472
Location:59 → 338

ABC_membrane_2; ABC transporter transmembrane region 2

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000069.7 Reference GRCm39 C57BL/6J

Range

121552553..121609851 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036162959.1 → XP_036018852.1 ATP-binding cassette sub-family D member 3 isoform X1

UniProtKB/TrEMBL

Q3U645, Q3UNS0, Q91VT3, Q9DBZ6

Conserved Domains (1) summary

TIGR00954
Location:1 → 647

3a01203; Peroxysomal Fatty Acyl CoA Transporter (FAT) Family protein
XM_036162960.1 → XP_036018853.1 ATP-binding cassette sub-family D member 3 isoform X2

Conserved Domains (1) summary

TIGR00954
Location:1 → 515

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