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    Abcd4 ATP binding cassette subfamily D member 4 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 299196, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Abcd4provided by RGD
    Official Full Name
    ATP binding cassette subfamily D member 4provided by RGD
    Primary source
    RGD:1307273
    See related
    EnsemblRapid:ENSRNOG00000011964 AllianceGenome:RGD:1307273
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    Pxmp1l
    Summary
    Predicted to enable several functions, including ABC-type vitamin B12 transporter activity; ATP binding activity; and identical protein binding activity. Predicted to be involved in several processes, including cobalamin transport; fatty acid catabolic process; and long-chain fatty acid import into peroxisome. Predicted to act upstream of or within cellular response to leukemia inhibitory factor. Predicted to be located in endoplasmic reticulum membrane and peroxisome. Predicted to be active in lysosomal membrane and peroxisomal membrane. Orthologous to human ABCD4 (ATP binding cassette subfamily D member 4). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Kidney (RPKM 47.2), Thymus (RPKM 31.6) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Abcd4 in Genome Data Viewer
    Location:
    6q31
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 6 NC_086024.1 (109977541..109992050, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 6 NC_051341.1 (104246459..104260965, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 6 NC_005105.4 (108315026..108329550, complement)

    Chromosome 6 - NC_086024.1Genomic Context describing neighboring genes Neighboring gene lin-52 DREAM MuvB core complex component Neighboring gene visual system homeobox 2 Neighboring gene U6 spliceosomal RNA Neighboring gene vertebrae development associated

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. Coelho D, et al. Nat Genet, 2012 Oct. PMID 22922874
    2. Identification of a fourth half ABC transporter in the human peroxisomal membrane. Shani N, et al. Hum Mol Genet, 1997 Oct. PMID 9302272
    3. Translocation of the ABC transporter ABCD4 from the endoplasmic reticulum to lysosomes requires the escort protein LMBD1. Kawaguchi K, et al. Sci Rep, 2016 Jul 26. PMID 27456980, Free PMC Article
    4. Targeting of the human adrenoleukodystrophy protein to the peroxisomal membrane by an internal region containing a highly conserved motif. Landgraf P, et al. Eur J Cell Biol, 2003 Aug. PMID 14533738
    5. 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

    See all (8) 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

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC105956

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables ABC-type vitamin B12 transporter activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within cellular response to leukemia inhibitory factor ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cobalamin metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cobalamin transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in lysosomal membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in lysosomal membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    NOT located_in peroxisome 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
    lysosomal cobalamin transporter ABCD4
    Names
    ATP-binding cassette, sub-family D (ALD), member 4
    ATP-binding cassette, sub-family D, member 4
    ATP-binding cassette, subfamily D (ALD), member 4
    NP_001013118.2
    XP_038967964.1
    XP_063117807.1
    XP_063117808.1
    XP_063117809.1

    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_001013100.3 → NP_001013118.2  lysosomal cobalamin transporter ABCD4

      See identical proteins and their annotated locations for NP_001013118.2

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000006
      UniProtKB/TrEMBL
      A6JDX5
      Related
      ENSRNOP00000016040.7, ENSRNOT00000016040.9
      Conserved Domains (1) summary
      TIGR00954
      Location:9 → 600
      3a01203; Peroxysomal Fatty Acyl CoA Transporter (FAT) Family protein

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086024.1 Reference GRCr8

      Range
      109977541..109992050 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_063261737.1 → XP_063117807.1  lysosomal cobalamin transporter ABCD4 isoform X1

    2. XM_063261738.1 → XP_063117808.1  lysosomal cobalamin transporter ABCD4 isoform X2

    3. XM_063261739.1 → XP_063117809.1  lysosomal cobalamin transporter ABCD4 isoform X3

    4. XM_039112036.1 → XP_038967964.1  lysosomal cobalamin transporter ABCD4 isoform X4

      Conserved Domains (1) summary
      pfam06472
      Location:27 → 294
      ABC_membrane_2; ABC transporter transmembrane region 2

    RNA

    1. XR_005505483.2 RNA Sequence

    2. XR_010052070.1 RNA Sequence

    3. XR_005505486.2 RNA Sequence

    4. XR_005505485.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version

    Gene LinkOut

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