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

    Gene ID: 19300, updated on 9-Dec-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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    See Abcd4 in Genome Data Viewer
    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. ABCD4 is associated with mammary gland development in mammals. Guo X, et al. BMC Genomics, 2024 May 20. PMID 38764031, Free PMC Article
    3. 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
    4. 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
    5. 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

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ABCD4 is associated with mammary gland development in mammals.
      Title: ABCD4 is associated with mammary gland development in mammals.
    2. 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)
    • Endonuclease-mediated (2) 
    • Targeted (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 vitamin B12 transporter activity ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    enables ABC-type vitamin B12 transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables ATP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ATP binding IEA
    Inferred from Electronic Annotation
    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 IEA
    Inferred from Electronic Annotation
    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
    		  
    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 metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cobalamin transport ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    involved_in cobalamin transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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 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 lysosomal membrane ISS
    Inferred from Sequence or Structural Similarity
    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 
    located_in peroxisome ISO
    Inferred from Sequence Orthology
    more info
    		  

    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
      Related
      ENSMUST00000222581.2

    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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