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ABCD4 Gene

protein-coding   GIFtS: 63
GCID: GC14M074751

ATP-Binding Cassette, Sub-Family D (ALD), Member 4


(Previous symbol: PXMP1L)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ATP-Binding Cassette, Sub-Family D (ALD), Member 41 2     MAHCJ2 5
PXMP1L1 2 3 5     P79R2 5
PMP692 3 5     69 KDa Peroxisomal ABC-Transporter2
Peroxisomal Membrane Protein 692 3     ABC412
P70R2 3     EST3521882
PXMP1-L2 3     ATP-Binding Cassette Sub-Family D Member 42
PMP70-Related Protein2 3     Peroxisomal Membrane Protein 1-Like3

External Ids:    HGNC: 681   Entrez Gene: 58262   Ensembl: ENSG000001196887   OMIM: 6032145   UniProtKB: O146783   

Export aliases for ABCD4 gene to outside databases

Previous GC identifers: GC14M072257 GC14M068547 GC14M072742 GC14M073821 GC14M054918


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ABCD4 Gene:
The 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 it 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. Alternative splicing results in at least two different transcript variants, one which is
protein-coding and one which is probably not protein-coding. (provided by RefSeq, Jul 2008)

GeneCards Summary for ABCD4 Gene:
ABCD4 (ATP-binding cassette, sub-family D (ALD), member 4) is a protein-coding gene. Diseases associated with ABCD4 include cbij, and methylmalonic aciduria and homocystinuria, cblj type. GO annotations related to this gene include ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is ABCD3.

UniProtKB/Swiss-Prot: ABCD4_HUMAN, O14678
Function: May be involved in intracellular processing of vitamin B12 (cobalamin). Could play a role in the
lysosomal release of vitamin B12 into the cytoplasm

Gene Wiki entry for ABCD4 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000014.9  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ABCD4 gene promoter:
         Elk-1   AML1a   NRSF form 1   FOXO3   NRSF form 2   GATA-1   N-Myc   FOXO3a   c-Myb   LyF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidABCD4 promoter sequence
   Search Chromatin IP Primers for ABCD4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ABCD4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q24.3   Ensembl cytogenetic band:  14q24.3   HGNC cytogenetic band: 14q24

ABCD4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABCD4 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M074751:  view genomic region     (about GC identifiers)

Start:
74,751,980 bp from pter      End:
74,769,767 bp from pter
Size:
17,788 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ABCD4_HUMAN, O14678 (See protein sequence)
Recommended Name: ATP-binding cassette sub-family D member 4  
Size: 606 amino acids; 68597 Da
Subunit: Homodimer or heterodimer (Potential)
Secondary accessions: A8K5L7 Q6IAQ0 Q96E75

Explore the universe of human proteins at neXtProt for ABCD4: NX_O14678

Explore proteomics data for ABCD4 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ABCD4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005041.1  
    ENSEMBL proteins: 
     ENSP00000349396   ENSP00000434792   ENSP00000436782   ENSP00000450982   ENSP00000450611  
     ENSP00000450960   ENSP00000451778   ENSP00000432557   ENSP00000434626   ENSP00000450491  
     ENSP00000436527   ENSP00000452430   ENSP00000451521   ENSP00000451457   ENSP00000451993  
     ENSP00000451770   ENSP00000432630   ENSP00000298816  

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    Cloud-Clone Corp. CLIAs for ABCD4


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ABCD: ATP binding cassette transporters / subfamily D

    Selected InterPro protein domains (see all 6):
     IPR010509 ABC_Peroxi_TM
     IPR003439 ABC_transporter-like
     IPR027417 P-loop_NTPase
     IPR003593 AAA+_ATPase
     IPR011527 ABC1_TM_dom

    Graphical View of Domain Structure for InterPro Entry O14678

    ProtoNet protein and cluster: O14678

    1 Blocks protein domain: IPB010509 ABC transporter

    UniProtKB/Swiss-Prot: ABCD4_HUMAN, O14678
    Similarity: Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC
    3.A.1.203) subfamily
    Similarity: Contains 1 ABC transmembrane type-1 domain
    Similarity: Contains 1 ABC transporter domain


    ABCD4 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ABCD4_HUMAN, O14678
    Function: May be involved in intracellular processing of vitamin B12 (cobalamin). Could play a role in the
    lysosomal release of vitamin B12 into the cytoplasm

         Genatlas biochemistry entry for ABCD4:
    ATP-binding cassette superfamily,subfamily D (ALD),member 4,ubiquitously expressed,peroxisomal membrane protein
    1-like,transporter,putatively involved in ALDP expression

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005524ATP binding NAS9266848
    GO:0016887ATPase activity ----
    GO:0017111nucleoside-triphosphatase activity ----
    GO:0042626ATPase activity, coupled to transmembrane movement of substances NAS9266848
         
    ABCD4 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for ABCD4:
     Decreased Salmonella enterica   Decreased Wnt reporter activit  Decreased homologous recombina  Synthetic lethal with c-Myc af 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Abcd4):
     behavior/neurological  integument  other 

    ABCD4 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ABCD4
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ABCD4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ABCD4

    miRNA
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    miRTarBase miRNAs that target ABCD4:
    hsa-mir-484 (MIRT042098), hsa-mir-26b-5p (MIRT030267)

    Block miRNA regulation of human, mouse, rat ABCD4 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate ABCD4:
    hsa-miR-600 hsa-miR-522 hsa-miR-548c-3p hsa-miR-224*
    SwitchGear 3'UTR luciferase reporter plasmidABCD4 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ABCD4

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCD4


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ABCD4_HUMAN, O14678: Peroxisome membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    peroxisome5
    plasma membrane3
    endoplasmic reticulum2
    cytosol1
    golgi apparatus1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005777peroxisome IDA14533738
    GO:0005778peroxisomal membrane IEA--
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0016020membrane ----
    GO:0016021integral component of membrane NAS9266848

    ABCD4 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ABCD4 About    
    See pathways by source

    SuperPathContained pathways About
    1ABC-family proteins mediated transport
    ABC transporters0.69
    2Peroxisome
    Peroxisome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    2 Kegg Pathways  (Kegg details for ABCD4):
        ABC transporters
    Peroxisome


    ABCD4 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including ABCD4: 
              Drug Transporters in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ABCD4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    Selected Interacting proteins for ABCD4 (O146783 ENSP000003493964) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PEA15Q151213, ENSP000003536604I2D: score=3 STRING: ENSP00000353660
    TMEM66Q96BY93, ENSP000002562554I2D: score=3 STRING: ENSP00000256255
    XRCC6P129563I2D: score=4 
    DLEU1O432613I2D: score=2 
    ABCA2ENSP000003441554STRING: ENSP00000344155
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport ----
    GO:0009235cobalamin metabolic process IMP--
    GO:0055085transmembrane transport NAS9266848

    ABCD4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ABCD4

    1 Novoseek inferred chemical compound relationship for ABCD4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fatty acid 24.9 1 16223892 (1)



    ABCD4 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ABCD4 gene (4 alternative transcripts): 
    NM_005050.3  NM_020324.1  NM_020325.1  NM_020326.2  

    Unigene Cluster for ABCD4:

    ATP-binding cassette, sub-family D (ALD), member 4
    Hs.94395  [show with all ESTs]
    Unigene Representative Sequence: AK125109
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 29):
    ENST00000356924(uc001xpr.2 uc001xps.2 uc010tur.2 uc001xpu.2 uc001xpv.2)
    ENST00000481348 ENST00000481935 ENST00000555904 ENST00000553486 ENST00000556517
    ENST00000465085 ENST00000553745 ENST00000474270 ENST00000484380 ENST00000496015
    ENST00000466822 ENST00000557554 ENST00000469672 ENST00000556119 ENST00000460308
    ENST00000553998 ENST00000555617
    miRNA
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    4 qRT-PCR Assays for microRNAs that regulate ABCD4:
    hsa-miR-600 hsa-miR-522 hsa-miR-548c-3p hsa-miR-224*
    SwitchGear 3'UTR luciferase reporter plasmidABCD4 3' UTR sequence
    Inhib. RNA
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    Clone
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    GenScript: all cDNA clones in your preferred vector: ABCD4 (NM_005050)
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    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for ABCD4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ABCD4
      QuantiTect SYBR Green Assays in human, mouse, rat ABCD4
      QuantiFast Probe-based Assays in human, mouse, rat ABCD4

    Additional mRNA sequence: 

    AF009746.1 AK125109.1 AK291332.1 AK297934.1 AK308382.1 BC012815.2 BT007412.1 BX248053.1 
    CR457104.1 NR_003256.2 U66690.1 

    Selected DOTS entries (see all 27):

    DT.92431120  DT.115745  DT.95302301  DT.97780583  DT.95289825  DT.449343  DT.95289835  DT.97782716 
    DT.97795470  DT.97845420  DT.100773444  DT.100811176  DT.115748  DT.120749249  DT.120749279  DT.120749280 
    DT.100695826  DT.120749248  DT.91653617  DT.100811180  DT.120749237  DT.120749247  DT.92431125  DT.92437655 

    Selected AceView cDNA sequences (see all 231):

    AI141839 AI884321 BX416997 AI357397 CR593192 AI564438 BM702194 AI559801 
    AW339051 T31528 BQ899300 BQ183989 C01003 AA939119 NM_020326 BX248053 
    BX361764 AA907773 CB215970 AI243986 BQ893869 BI906927 BI715158 AL596885 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ABCD4 (see all 20)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d · 4e ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^
    SP1:                                                        -     -                 -     -     -                       -           -                           
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 11 ^ 12a · 12b ^ 13a · 13b · 13c · 13d · 13e ^ 14a · 14b ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b ^ 18 ^ 19 ^ 20a · 20b · 20c · 20d · 20e · 20f
    SP1:                                                                    -           -     -                       -                                 
    SP2:                                            -                       -           -     -                       -                                 
    SP3:                                                                    -                 -                                                         
    SP4:                    -                             -     -           -           -     -                                                         
    SP5:                                                                    -           -     -                                                         


    ECgene alternative splicing isoforms for ABCD4

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    ABCD4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTGCTAAAG
    ABCD4 Expression
    About this image


    ABCD4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Adipose (Muscoskeletal System)
             Interscapular Brown Adipose Depot
    ABCD4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ABCD4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.94395

    UniProtKB/Swiss-Prot: ABCD4_HUMAN, O14678
    Tissue specificity: Ubiquitous

        Pathway & Disease-focused RT2 Profiler PCR Array including ABCD4: 
              Drug Transporters in human mouse rat

    Primer
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCD4

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ABCD4 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Abcd41 , 5 ATP-binding cassette, sub-family D (ALD), member 41, 5 88.17(n)1
    89.6(a)1
      12 (39.30 cM)5
    193001  NM_008992.21  NP_033018.21 
     846025315 
    chicken
    (Gallus gallus)
    Aves ABCD41 ATP-binding cassette, sub-family D (ALD), member 4 74.75(n)
    77.1(a)
      423349  XM_421264.4  XP_421264.4 
    lizard
    (Anolis carolinensis)
    Reptilia ABCD46
    ATP-binding cassette, sub-family D (ALD), member 4...
    74(a)
    1 ↔ 1
    1(23514098-23534419)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia abcd41 ATP-binding cassette, sub-family D (ALD), member 4 62.89(n)
    62.44(a)
      100493343  XM_004917049.1  XP_004917106.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.186952 Transcribed sequence with moderate similarity to protein more 77.13(n)    BI984210.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C54G10.33
    pmp-31
    peroxisomal membrane protein (PMP70)3
    pmp-31
    41(a)3
    47.27(n)1
    41.99(a)1
      V(14649823-14655488)3
    1799681  NM_001269678.11  NP_001256607.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PXA16
    Subunit of a heterodimeric peroxisomal ATP-binding...
    17(a)
    1 → many
    XVI(273255-275867) YPL147W


    ENSEMBL Gene Tree for ABCD4 (if available)
    TreeFam Gene Tree for ABCD4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ABCD4 gene
    ABCD32  ABCD12  ABCD22  
    2 SIMAP similar genes for ABCD4 using alignment to 11 protein entries:     ABCD4_HUMAN (see all proteins):
    ABCD1    ABCD3

    ABCD4 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ABCD4 (see all 669)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2017770561,2,,4
    CMethylmalonic aciduria and homocystinuria type cblJ (MAHCJ)4 pathogenic155751078(+) TGAGGT/CAGATG 3 /Y /C nc-transcript-variantmis11Minor allele frequency- C:0.00EU 1321
    rs360888011,2
    C--54934830(+) AAATC-/TTTTTTT 2 -- int10--------
    rs678227761,2
    C--54937515(+) ACAGA-/TTTTTT 2 -- us2k11Minor allele frequency- T:0.00NA 2
    rs65741711,2
    C,H--55743327(+) ACTGGG/AAACCA 2 -- ds500117Minor allele frequency- A:0.01NA WA CSA EA 519
    rs1385678451,2
    C--55743351(+) GAAGCA/GGCAAA 2 -- ds50010--------
    rs1921392741,2
    --55743379(+) AGGAAC/TGAATT 2 -- ds50010--------
    rs1845748871,2
    --55743441(+) CAGCTA/GCTTGA 2 -- ds50010--------
    rs761358671,2
    C,F--55743507(+) TGATTG/ATGCCA 2 -- ds50011Minor allele frequency- A:0.05EA 120
    rs339448681,2
    C--55743569(+) AAATA-/A/    
       AAGTA
    ATAAA
    2 -- ds50010--------
    rs560530791,2
    C--55743570(+) AATAA-/G/    
       GTAAA
    TAAAA
    2 -- ds50011NA 2

    HapMap Linkage Disequilibrium report for ABCD4 (74751980 - 74769767 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ABCD4:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv902096CNV Gain21882294
    nsv902097CNV Gain21882294

    Human Gene Mutation Database (HGMD): ABCD4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ABCD4
    DNA2.0 Custom Variant and Variant Library Synthesis for ABCD4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603214   
    OMIM disorders: 614857  
    UniProtKB/Swiss-Prot: ABCD4_HUMAN, O14678
  • Methylmalonic aciduria and homocystinuria type cblJ (MAHCJ) [MIM:614857]: A disorder of cobalamin
    metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin
    (MeCbl). Clinical features include feeding difficulties, poor growth, hypotonia, lethargy, anemia, and
    developmental delay. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 13 diseases for ABCD4:    
    About MalaCards
    cbij    methylmalonic aciduria and homocystinuria, cblj type    disorders of intracellular cobalamin metabolism    peroxisomal disease
    homocystinuria    adrenoleukodystrophy    intrahepatic cholestasis    cholestasis
    hypotonia    ataxia    tuberculosis    multiple myeloma
    myeloma

    1 disease from the University of Copenhagen DISEASES database for ABCD4:
    Adrenoleukodystrophy

    ABCD4 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for ABCD4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adrenoleukodystrophy 90 4 14533738 (2), 16223892 (1), 15800013 (1)

    Genetic Association Database (GAD): ABCD4
    Human Genome Epidemiology (HuGE) Navigator: ABCD4 (2 documents)

    Export disorders for ABCD4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ABCD4 gene, integrated from 10 sources (see all 26):
    (articles sorted by number of sources associating them with ABCD4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Primary structure of human PMP69, a putative peroxisomal ABC- transporter. (PubMed id 9266848)1, 2, 3, 9 Holzinger A.... Roscher A.A. (Biochem. Biophys. Res. Commun. 1997)
    2. Identification of a fourth half ABC transporter in the human peroxisomal membrane. (PubMed id 9302272)1, 2, 3 Shani N.... Valle D. (Hum. Mol. Genet. 1997)
    3. Genomic organization and chromosomal localization of the human peroxisomal membrane protein-1-like protein (PXMP1-L) gene encoding a peroxisomal ABC transporter. (PubMed id 9599016)1, 2, 9 Holzinger A.... Kammerer S. (FEBS Lett. 1998)
    4. Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. (PubMed id 22922874)1, 2 Coelho D....Baumgartner M.R. (Nat. Genet. 2012)
    5. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PubMed id 19343046)1, 4 Saito A....Kamatani N. (J. Hum. Genet. 2009)
    6. Catalog of 605 single-nucleotide polymorphisms (SNPs) among 13 genes encoding human ATP-binding cassette transporters: ABCA4, ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5, and ABCG8. (PubMed id 12111378)1, 2 Iida A.... Nakamura Y. (J. Hum. Genet. 2002)
    7. Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy. (PubMed id 15800013)1, 9 Asheuer M....Aubourg P. (Hum. Mol. Genet. 2005)
    8. Targeting of the human adrenoleukodystrophy protein to the peroxisomal membrane by an internal region containing a highly conserved motif. (PubMed id 14533738)1, 9 Landgraf P....Holzinger A. (Eur. J. Cell Biol. 2003)
    9. Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes. (PubMed id 20661612)1 Matsukawa T....Tsuji S. (Neurogenetics 2011)
    10. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5826 HGNC: 68 AceView: ABCD4 Ensembl:ENSG00000119688 euGenes: HUgn5826
    ECgene: ABCD4 Kegg: 5826 H-InvDB: ABCD4

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ABCD4 Pharmacogenomics, SNPs, Pathways
    ABCMdbhttp://abcmutations.hegelab.org/proteinDetails?uniprot_id=O14678

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ABCD4 gene:
    Search GeneIP for patents involving ABCD4

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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