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

Gene ID: 19300, updated on 5-Jan-2023

Summary

Official Symbol
Abcd4provided by MGI
Official Full Name
ATP-binding cassette, sub-family D (ALD), member 4provided by MGI
Primary source
MGI:MGI:1349217
See related
Ensembl:ENSMUSG00000021240 AllianceGenome:MGI:1349217
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
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
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Genomic context

See Abcd4 in Genome Data Viewer
Location:
12 D1; 12 39.3 cM
Exon count:
19
Annotation release Status Assembly Chr Location
109 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 lin-52 DREAM MuvB core complex component Neighboring gene visual system homeobox 2 Neighboring gene vertebrae development associated Neighboring gene synapse differentiation inducing 1 like

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

General gene information

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 IEA
Inferred from Electronic Annotation
more info
 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables long-chain fatty acid transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
involved_in long-chain fatty acid import into peroxisome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in peroxisome organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
NOT located_in peroxisome IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
lysosomal cobalamin transporter ABCD4
Names
ATP-binding cassette sub-family D 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
XP_036013156.1

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_008992.2NP_033018.2  lysosomal cobalamin transporter ABCD4

    See identical proteins and their annotated locations for NP_033018.2

    Status: REVIEWED

    Source sequence(s)
    AC110564, AJ001166, BB636710
    Consensus CDS
    CCDS26047.1
    UniProtKB/Swiss-Prot
    E9QKU3, O89016
    Related
    ENSMUSP00000021666.5, ENSMUST00000021666.6
    Conserved Domains (1) summary
    COG4178
    Location:10606
    YddA; ABC-type uncharacterized transport system, permease and ATPase components [General function prediction only]

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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_006515616.4XP_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:189400
    ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D
    COG4178
    Location:5408
    YddA; ABC-type uncharacterized transport system, permease and ATPase components [General function prediction only]
  2. XM_006515614.4XP_006515677.1  lysosomal cobalamin transporter ABCD4 isoform X2

    Conserved Domains (1) summary
    COG4178
    Location:10567
    YddA; ABC-type uncharacterized transport system, permease and ATPase components [General function prediction only]
  3. XM_006515617.5XP_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:189400
    ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D
    COG4178
    Location:5408
    YddA; ABC-type uncharacterized transport system, permease and ATPase components [General function prediction only]
  4. XM_030246618.2XP_030102478.1  lysosomal cobalamin transporter ABCD4 isoform X4

    Conserved Domains (2) summary
    cd03223
    Location:189400
    ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D
    COG4178
    Location:5408
    YddA; ABC-type uncharacterized transport system, permease and ATPase components [General function prediction only]
  5. XM_006515613.4XP_006515676.1  lysosomal cobalamin transporter ABCD4 isoform X1

    Related
    ENSMUSP00000152694.2, ENSMUST00000223107.2
    Conserved Domains (1) summary
    COG4178
    Location:2602
    YddA; ABC-type uncharacterized transport system, permease and ATPase components [General function prediction only]
  6. XM_036157263.1XP_036013156.1  lysosomal cobalamin transporter ABCD4 isoform X3

    Conserved Domains (2) summary
    COG4178
    Location:10546
    YddA; ABC-type uncharacterized transport system, permease and ATPase components [General function prediction only]
    pfam06472
    Location:27294
    ABC_membrane_2; ABC transporter transmembrane region 2

RNA

  1. XR_003950001.2 RNA Sequence

  2. XR_004937453.1 RNA Sequence

  3. XR_004937452.1 RNA Sequence

  4. XR_003950002.2 RNA Sequence

  5. XR_004937451.1 RNA Sequence

  6. XR_001780435.3 RNA Sequence