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Abcd4 ATP-binding cassette, sub-family D member 4 [ Mus musculus (house mouse) ]

Gene ID: 19300, updated on 21-Apr-2024

Summary

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Official Symbol
Abcd4provided by MGI
Official Full Name
ATP-binding cassette, sub-family D member 4provided by MGI
Primary source
MGI:MGI:1349217
See related
Ensembl:ENSMUSG00000021240 AllianceGenome:MGI:1349217
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
P69r; P70R; Pxmp1l
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. The function of this peroxisomal membrane protein is unknown. However, it is speculated that the human protein may function as a heterodimer for another peroxisomal ABC transporter and, therefore, may modify the adrenoleukodystrophy phenotype. It may also play a role in the process of peroxisome biogenesis. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in kidney adult (RPKM 14.9), placenta adult (RPKM 11.8) and 27 other tissues See more
Orthologs
human all
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Genomic context

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Location:
12 D1; 12 39.3 cM
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (84648634..84664259, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (84601869..84617485, complement)

Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E80 Neighboring gene lin-52 DREAM MuvB core complex component Neighboring gene STARR-seq mESC enhancer starr_32738 Neighboring gene STARR-seq mESC enhancer starr_32740 Neighboring gene STARR-seq mESC enhancer starr_32741 Neighboring gene visual system homeobox 2 Neighboring gene STARR-seq mESC enhancer starr_32746 Neighboring gene STARR-seq mESC enhancer starr_32747 Neighboring gene STARR-seq mESC enhancer starr_32748 Neighboring gene vertebrae development associated Neighboring gene STARR-seq mESC enhancer starr_32749 Neighboring gene synapse differentiation inducing 1 like

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. The mouse gene encoding the peroxisomal membrane protein 1-like protein (PXMP1-L): cDNA cloning, genomic organization and comparative expression studies. Holzinger A, et al. FEBS Lett, 1998 Aug 14. PMID 9738957
  2. The lysosomal protein ABCD4 can transport vitamin B(12) across liposomal membranes in vitro. Kitai K, et al. J Biol Chem, 2021 Jan-Jun. PMID 33845046, Free PMC Article
  3. 70-kDa peroxisomal membrane protein related protein (P70R/ABCD4) localizes to endoplasmic reticulum not peroxisomes, and NH2-terminal hydrophobic property determines the subcellular localization of ABC subfamily D proteins. Kashiwayama Y, et al. Exp Cell Res, 2009 Jan 15. PMID 19010322
  4. The four murine peroxisomal ABC-transporter genes differ in constitutive, inducible and developmental expression. Berger J, et al. Eur J Biochem, 1999 Oct. PMID 10504404
  5. cDNA cloning, chromosomal localization and evolutionary analysis of mouse vacuolar ATPase subunit D, Atp6m. Kennell JA, et al. Cytogenet Cell Genet, 2001. PMID 11435709

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. P70R resides in the ER but not the peroxisomal membranes, and the hydrophobic property of NH(2)-terminal region determines the subcellular localization of ABC subfamily D proteins.
    Title: 70-kDa peroxisomal membrane protein related protein (P70R/ABCD4) localizes to endoplasmic reticulum not peroxisomes, and NH2-terminal hydrophobic property determines the subcellular localization of ABC subfamily D proteins.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (1) 
  • Endonuclease-mediated (1) 

Pathways from PubChem

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General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ABC-type transporter activity IEA
Inferred from Electronic Annotation
more info
  
enables ABC-type vitamin B12 transporter activity ISO
Inferred from Sequence Orthology
more info
 PubMed 
enables ATP binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ATP hydrolysis activity IEA
Inferred from Electronic Annotation
more info
  
enables ATPase-coupled transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
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 nucleotide binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within cellular response to leukemia inhibitory factor IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in cobalamin metabolic process ISO
Inferred from Sequence Orthology
more info
  
involved_in cobalamin transport ISO
Inferred from Sequence Orthology
more info
 PubMed 
involved_in fatty acid beta-oxidation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in long-chain fatty acid import into peroxisome IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in peroxisome organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in transmembrane transport 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
  
Component Evidence Code Pubs
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
  
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum membrane ISO
Inferred from Sequence Orthology
more info
  
located_in lysosomal membrane ISO
Inferred from Sequence Orthology
more info
  
located_in lysosome IEA
Inferred from Electronic Annotation
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in peroxisomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
NOT located_in peroxisome IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
lysosomal cobalamin transporter ABCD4
Names
ATP-binding cassette, sub-family D (ALD), member 4
PMP69
PMP70-related protein
PXMP1-L
peroxisomal membrane protein 69
peroxisomal membrane protein, 70 kDa-related
NP_033018.2
XP_006515676.1
XP_006515677.1
XP_006515679.1
XP_006515680.1
XP_030102478.1

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)

  1. NM_008992.3 → NP_033018.2  lysosomal cobalamin transporter ABCD4

    See identical proteins and their annotated locations for NP_033018.2

    Status: VALIDATED

    Source sequence(s)
    AC110564
    Consensus CDS
    CCDS26047.1
    UniProtKB/Swiss-Prot
    E9QKU3, O89016
    UniProtKB/TrEMBL
    A0A1Y7VMF7
    Related
    ENSMUSP00000021666.5, ENSMUST00000021666.6
    Conserved Domains (1) summary
    COG4178
    Location:10 → 606
    YddA; ABC-type uncharacterized transport system, permease and ATPase components [General function prediction only]

RNA

  1. NR_186731.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC110564

  2. NR_186732.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC110564

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

  1. NC_000078.7 Reference GRCm39 C57BL/6J

    Range
    84648634..84664259 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006515616.4 → XP_006515679.1  lysosomal cobalamin transporter ABCD4 isoform X4

    See identical proteins and their annotated locations for XP_006515679.1

    Conserved Domains (2) summary
    cd03223
    Location:189 → 400
    ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D
    COG4178
    Location:5 → 408
    YddA; ABC-type uncharacterized transport system, permease and ATPase components [General function prediction only]

  2. XM_006515614.4 → XP_006515677.1  lysosomal cobalamin transporter ABCD4 isoform X2

    UniProtKB/TrEMBL
    A0A1Y7VMF7
    Conserved Domains (1) summary
    COG4178
    Location:10 → 567
    YddA; ABC-type uncharacterized transport system, permease and ATPase components [General function prediction only]

  3. XM_006515617.5 → XP_006515680.1  lysosomal cobalamin transporter ABCD4 isoform X4

    See identical proteins and their annotated locations for XP_006515680.1

    Conserved Domains (2) summary
    cd03223
    Location:189 → 400
    ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D
    COG4178
    Location:5 → 408
    YddA; ABC-type uncharacterized transport system, permease and ATPase components [General function prediction only]

  4. XM_030246618.2 → XP_030102478.1  lysosomal cobalamin transporter ABCD4 isoform X4

    Conserved Domains (2) summary
    cd03223
    Location:189 → 400
    ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D
    COG4178
    Location:5 → 408
    YddA; ABC-type uncharacterized transport system, permease and ATPase components [General function prediction only]

  5. XM_006515613.4 → XP_006515676.1  lysosomal cobalamin transporter ABCD4 isoform X1

    UniProtKB/TrEMBL
    A0A1Y7VMF7
    Related
    ENSMUSP00000152694.2, ENSMUST00000223107.2
    Conserved Domains (1) summary
    COG4178
    Location:2 → 602
    YddA; ABC-type uncharacterized transport system, permease and ATPase components [General function prediction only]

RNA

  1. XR_003950001.2 RNA Sequence

  2. XR_004937453.1 RNA Sequence

  3. XR_004937452.1 RNA Sequence

  4. XR_004937451.1 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O89016.2 GenPept UniProtKB/Swiss-Prot:O89016

Gene LinkOut

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