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ABCD1 Gene

protein-coding   GIFtS: 70
GCID: GC0XP152990

ATP-Binding Cassette, Sub-Family D (ALD), Member 1


(Previous symbol: ALD)
  See ABCD1-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 11 2     AMN2 5
ALD1 2 3 5     ABC422
Adrenoleukodystrophy Protein2 3     ATP-Binding Cassette Sub-Family D Member 12
ALDP2 3     

External Ids:    HGNC: 611   Entrez Gene: 2152   Ensembl: ENSG000001019867   OMIM: 3003715   UniProtKB: P338973   

Export aliases for ABCD1 gene to outside databases

Previous GC identifers: GC0XP147127 GC0XP149445 GC0XP150576 GC0XP151458 GC0XP152511 GC0XP152643 GC0XP141647


(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 ABCD1 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. This peroxisomal membrane protein is likely involved
in the peroxisomal transport or catabolism of very long chain fatty acids. Defects in this gene have been
identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating
disorder of the nervous system. (provided by RefSeq, Jul 2008)

GeneCards Summary for ABCD1 Gene:
ABCD1 (ATP-binding cassette, sub-family D (ALD), member 1) is a protein-coding gene. Diseases associated with ABCD1 include adrenoleukodystrophy, and spinocerebellar degeneration. GO annotations related to this gene include enzyme binding and protein homodimerization activity. An important paralog of this gene is ABCD3.

UniProtKB/Swiss-Prot: ABCD1_HUMAN, P33897
Function: Probable transporter. The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity

Gene Wiki entry for ABCD1 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 at NCBI GenBank:
NC_000023.10  NC_018934.2  NT_011681.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the ABCD1 gene promoter:
         SRF   ISGF-3   p53   MAZR   AML1a   AP-1   SRF (504 AA)   ATF-2   NRF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidABCD1 promoter sequence
   Search Chromatin IP Primers for ABCD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ABCD1


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

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

ABCD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABCD1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP152990:  view genomic region     (about GC identifiers)

Start:
152,990,323 bp from pter      End:
153,010,216 bp from pter
Size:
19,894 bases      Orientation:
plus 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ABCD1_HUMAN, P33897 (See protein sequence)
Recommended Name: ATP-binding cassette sub-family D member 1  
Size: 745 amino acids; 82937 Da
Subunit: Can form homodimers and heterodimers with ABCD2/ALDR and ABCD3/PMP70. Dimerization is necessary to form
an active transporter. Interacts with PEX19
Secondary accessions: Q6GTZ2

Explore the universe of human proteins at neXtProt for ABCD1: NX_P33897

Explore proteomics data for ABCD1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys407, Lys708
  • Glycosylation2 at Asn214
  • Modification sites at PhosphoSitePlus

  • See ABCD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000024.2  
    ENSEMBL proteins: 
     ENSP00000218104   ENSP00000359147   ENSP00000413695  
    Reactome Protein details: P33897

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    (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

    IUPHAR Guide to PHARMACOLOGY protein family classification: ABCD1
    ABCD subfamily of peroxisomal ABC transporters

    Selected InterPro protein domains (see all 7):
     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 P33897

    ProtoNet protein and cluster: P33897

    1 Blocks protein domain: IPB010509 ABC transporter

    UniProtKB/Swiss-Prot: ABCD1_HUMAN, P33897
    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


    Find genes that share domains with ABCD1           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ABCD1_HUMAN, P33897
    Function: Probable transporter. The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity

         Genatlas biochemistry entry for ABCD1:
    ATP-binding cassette superfamily,subfamily D (ALD),member 1,peroxisomal membrane protein,enhancing the association
    of very long chain acyl-CoA synthethase with the peroxisome

         Gene Ontology (GO): Selected molecular function terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005215transporter activity NAS8441467
    GO:0005325peroxisomal fatty-acyl-CoA transporter activity TAS--
    GO:0005515protein binding IPI10551832
    GO:0005524ATP binding IDA11248239
         
    Find genes that share ontologies with ABCD1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for ABCD1:
     Decreased Salmonella enterica   Decreased influenza A virus in 

         10 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Abcd1):
     behavior/neurological  endocrine/exocrine gland  hematopoietic system  homeostasis/metabolism  immune system 
     nervous system  normal  other  reproductive system  vision/eye 

    Find genes that share phenotypes with ABCD1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for ABCD1: Abcd1tm1Ymd Abcd1tm1Kan Abcd1tm1Kds

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ABCD1
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ABCD1

    miRNA
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    miRTarBase miRNAs that target ABCD1:
    hsa-mir-615-3p (MIRT039787), hsa-mir-23a-3p (MIRT050424), hsa-mir-26b-5p (MIRT029416)

    Block miRNA regulation of human, mouse, rat ABCD1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ABCD1 (see all 16):
    hsa-miR-3607-5p hsa-miR-323b-3p hsa-miR-1271 hsa-miR-449a hsa-miR-124 hsa-miR-9 hsa-miR-558 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmidABCD1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCD1


    (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
    ABCD1_HUMAN, P33897: Peroxisome membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    peroxisome5
    cytosol4
    mitochondrion2
    endoplasmic reticulum1
    golgi apparatus1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA17761426
    GO:0005739mitochondrion IEA--
    GO:0005777peroxisome IDA10777694
    GO:0005778peroxisomal membrane TAS--
    GO:0005779integral component of peroxisomal membrane NAS8441467

    Find genes that share ontologies with ABCD1           About GenesLikeMe


    (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 ABCD1 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1ABC-family proteins mediated transport
    ABC-family proteins mediated transport0.69
    ABCA transporters in lipid homeostasis0.00
    ABC transporters0.69
    2alpha-linolenic (omega3) and linoleic (omega6) acid metabolism
    alpha-linolenic (omega3) and linoleic (omega6) acid metabolism
    alpha-linolenic acid (ALA) metabolism0.00
    Linoleic acid (LA) metabolism0.00
    3Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    4Peroxisomal lipid metabolism
    Peroxisomal lipid metabolism
    Beta-oxidation of very long chain fatty acids0.00
    5Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47


    Find genes that share SuperPaths with ABCD1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 Reactome Pathways for ABCD1
        Linoleic acid (LA) metabolism
    ABCA transporters in lipid homeostasis
    Beta-oxidation of very long chain fatty acids
    alpha-linolenic acid (ALA) metabolism


    2 Kegg Pathways  (Kegg details for ABCD1):
        ABC transporters
    Peroxisome

        Pathway & Disease-focused RT2 Profiler PCR Array including ABCD1: 
              Drug Transporters in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ABCD1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ABCD1 (P338971, 2, 3 ENSP000002181044) via UniProtKB, MINT, STRING, and/or I2D (see all 30)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABCD3P282881, 3, ENSP000003592334EBI-81045,EBI-80992 I2D: score=5 STRING: ENSP00000359233
    PEX19P408551, 2, 3, ENSP000003570514EBI-81045,EBI-594747 MINT-7995876 MINT-7995890 MINT-7995670 I2D: score=4 STRING: ENSP00000357051
    ABCD2Q9UBJ23, ENSP000003106884I2D: score=4 STRING: ENSP00000310688
    POT1Q9NUX53, ENSP000003502494I2D: score=1 STRING: ENSP00000350249
    TERF2Q155543, ENSP000002549424I2D: score=1 STRING: ENSP00000254942
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006200ATP catabolic process IDA11248239
    GO:0006635fatty acid beta-oxidation IGI18757502
    GO:0006810transport ----
    GO:0007031peroxisome organization NAS8441467
    GO:0015910peroxisomal long-chain fatty acid import IGI18757502

    Find genes that share ontologies with ABCD1           About GenesLikeMe



    (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 ABCD1

    Selected Novoseek inferred chemical compound relationships for ABCD1 gene (see all 13)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lignoceric acid 74.3 4 9007322 (2), 9799802 (1)
    fatty acid 64.2 21 2015112 (2), 18491823 (1), 9051655 (1), 16223892 (1) (see all 14)
    acyl-coa 56.9 3 9173925 (2), 10068511 (1)
    lovastatin 54.8 1 9600263 (1)
    manganese superoxide 22.3 1 16319717 (1)
    atp 17.9 18 16946495 (3), 12530690 (2), 11248239 (2), 9425230 (1) (see all 10)
    lipid 10.7 4 17973979 (1), 2015112 (1), 17881773 (1), 17532287 (1)
    palmitate 8.22 2 2015112 (2)
    cholesterol 0 2 16213491 (1), 17881773 (1)
    forskolin 0 1 9610777 (1)



    Find genes that share compounds with ABCD1           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ABCD1 gene: 
    NM_000033.3  

    Unigene Cluster for ABCD1:

    ATP-binding cassette, sub-family D (ALD), member 1
    Hs.159546  [show with all ESTs]
    Unigene Representative Sequence: NM_000033
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000218104(uc004fif.2) ENST00000370129 ENST00000443684
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ABCD1 (see all 16):
    hsa-miR-3607-5p hsa-miR-323b-3p hsa-miR-1271 hsa-miR-449a hsa-miR-124 hsa-miR-9 hsa-miR-558 hsa-miR-506
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      QuantiFast Probe-based Assays in human, mouse, rat ABCD1

    Additional mRNA sequence: 

    AY421736.1 AY421737.1 AY421738.1 BC015541.1 BC025358.1 Z21876.1 

    9 DOTS entries:

    DT.100775286  DT.438401  DT.91751960  DT.97780533  DT.99946409  DT.100698232  DT.121309356  DT.121309416 
    DT.95174234 

    Selected AceView cDNA sequences (see all 167):

    AA617973 BQ233874 BC015541 NM_000033 BM743389 BM744752 BX281679 D31532 
    BU188300 CR590818 BQ945290 BF111256 BQ051707 BE280899 CR599919 BQ002137 
    BX379103 BX382184 BE546548 CA395588 BC025358 BM459113 BQ952022 BQ689178 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ABCD1    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b
    SP1:                                -     -                 -                                                   
    SP2:                                                                                                            
    SP3:                                                        -                                                   
    SP4:                                      -                 -                                                   
    SP5:                                                                                                            


    ECgene alternative splicing isoforms for ABCD1

    (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)
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    ABCD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCCCAGCTC
    ABCD1 Expression
    About this image


    ABCD1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Blood (Hematopoietic System)
             ABCD-1-transduced peripheral blood-derived hematopoietic stem cells
     
     Bone (Muscoskeletal System)
             Membranous Facial Bones
     
     Pancreas (Endocrine System)
    ABCD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ABCD1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.159546
        Pathway & Disease-focused RT2 Profiler PCR Array including ABCD1: 
              Drug Transporters in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCD1

    (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)
    About This Section

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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ABCD1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Abcd11 , 5 ATP-binding cassette, sub-family D (ALD), member 11, 5 86.61(n)1
    92.08(a)1
      X (37.39 cM)5
    116661  NM_007435.11  NP_031461.11 
     737165975 
    lizard
    (Anolis carolinensis)
    Reptilia ABCD16
    ATP-binding cassette, sub-family D (ALD), member 1...
    72(a)
    1 ↔ 1
    2(86748836-86765502)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia abcd11 ATP-binding cassette, sub-family D (ALD), member 1 70.39(n)
    77.23(a)
      100493545  XM_002935513.2  XP_002935559.1 
    zebrafish
    (Danio rerio)
    Actinopterygii abcd11 ATP-binding cassette, sub-family D (ALD), member 1 67.36(n)
    68.81(a)
      566367  NM_001111186.1  NP_001104656.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG23163 ATP-binding cassette (ABC) transporter 53(a)   102B1   --
    worm
    (Caenorhabditis elegans)
    Secernentea T02D1.53 ABC transporters 56(a)   IV(17402732-17405778)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PXA16
    Subunit of a heterodimeric peroxisomal ATP-binding...
    26(a)
    1 → many
    XVI(273255-275867) YPL147W
    corn
    (Zea mays)
    Liliopsida AY107367.12   -- 71.06(n)    AY107367.1 


    ENSEMBL Gene Tree for ABCD1 (if available)
    TreeFam Gene Tree for ABCD1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ABCD1 gene
    ABCD32  ABCD42  ABCD22  
    5 SIMAP similar genes for ABCD1 using alignment to 5 protein entries:     ABCD1_HUMAN (see all proteins):
    ALD    ABCD2    ABCB4    ABCD4    ABCD3

    Find genes that share paralogs with ABCD1           About GenesLikeMe


    4 Pseudogenes.org Pseudogenes for ABCD1
    PGOHUM00000238740 PGOHUM00000259051 PGOHUM00000246377 PGOHUM00000240771


    (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 ABCD1 (see all 532)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0673284
    Adrenoleukodystrophy (ALD)4--see VAR_0673282 L P mis40--------
    VAR_0230044
    Adrenoleukodystrophy (ALD)4--see VAR_0230042 C W mis40--------
    VAR_0000354
    Adrenoleukodystrophy (ALD)4--see VAR_0000352 S N mis40--------
    VAR_0672424
    Adrenoleukodystrophy (ALD)4--see VAR_0672422 L F mis40--------
    VAR_0672404
    Adrenoleukodystrophy (ALD)4--see VAR_0672402 T R mis40--------
    VAR_0133494
    Adrenoleukodystrophy (ALD)4--see VAR_0133492 W R mis40--------
    VAR_0093864
    Adrenoleukodystrophy (ALD)4--see VAR_0093862 S R mis40--------
    VAR_0000334
    Adrenoleukodystrophy (ALD)4--see VAR_0000332 A T mis40--------
    VAR_0093514
    Adrenoleukodystrophy (ALD)4--see VAR_0093512 T P mis40--------
    VAR_0093924
    Adrenoleukodystrophy (ALD)4--see VAR_0093922 T I mis40--------

    HapMap Linkage Disequilibrium report for ABCD1 (152990323 - 153010216 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ABCD1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv33199CNV Gain+Loss17666407
    esv21656CNV Gain+Loss19812545

    Human Gene Mutation Database (HGMD): ABCD1
    Locus Specific Mutation Databases (LSDB): ABCD1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ABCD1
    DNA2.0 Custom Variant and Variant Library Synthesis for ABCD1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300371   
    OMIM disorders: 300100  
    UniProtKB/Swiss-Prot: ABCD1_HUMAN, P33897
  • Adrenoleukodystrophy (ALD) [MIM:300100]: A peroxisomal metabolic disorder characterized by progressive
    multifocal demyelination of the central nervous system and by peripheral adrenal insufficiency (Addison disease).
    It results in mental deterioration, corticospinal tract dysfunction, and cortical blindness. Different clinical
    manifestations exist like: cerebral childhood ALD (CALD), adult cerebral ALD (ACALD), adrenomyeloneuropathy (AMN)
    and 'Addison disease only' (ADO) phenotype. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Note=The promoter region of ABCD1 is deleted in the chromosome Xq28 deletion syndrome which involves
    ABCD1 and the neighboring gene BCAP31

  • 6 diseases for ABCD1:    
    About MalaCards
    adrenoleukodystrophy    spinocerebellar degeneration    adrenomyeloneuropathy    peroxisomal disease
    deafness, dystonia, and cerebral hypomyelination    adrenomyeloneuropathy, adult

    2 diseases from the University of Copenhagen DISEASES database for ABCD1:
    Adrenoleukodystrophy     Peroxisomal disease

    Find genes that share disorders with ABCD1           About GenesLikeMe

    9 Novoseek inferred disease relationships for ABCD1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adrenoleukodystrophy 98.7 199 16087056 (3), 17662307 (3), 17609205 (3), 8892025 (2) (see all 99)
    peroxisomal disorders 91.4 9 15643618 (1), 18491823 (1), 9195223 (1), 19406244 (1) (see all 8)
    demyelination 72.4 7 9173925 (2), 9195223 (1), 10319888 (1), 17532287 (1) (see all 6)
    demyelinating diseases 68.2 15 9607414 (1), 8577752 (1), 11706205 (1), 9266848 (1) (see all 10)
    adrenal dysfunction 60.4 1 17202797 (1)
    addisons disease 59.8 3 17532287 (2), 7717396 (1)
    neurodegenerative diseases 58.1 17 17686565 (1), 18973459 (1), 11422379 (1), 11063720 (1) (see all 11)
    metabolic disorder 19.6 4 18723473 (2)
    multiple sclerosis 0 1 11688182 (1)

    GeneTests: ABCD1
    GeneReviews: ABCD1
    Genetic Association Database (GAD): ABCD1
    Human Genome Epidemiology (HuGE) Navigator: ABCD1 (4 documents)

    Export disorders for ABCD1 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 ABCD1 gene, integrated from 10 sources (see all 210):
    (articles sorted by number of sources associating them with ABCD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. (PubMed id 8441467)1, 2, 3 Mosser J.... Aubourg P. (Nature 1993)
    2. Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy. (PubMed id 8651290)1, 2, 9 Feigenbaum V.... Aubourg P. (Am. J. Hum. Genet. 1996)
    3. Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. (PubMed id 11992258)1, 2, 9 Corzo D.... Steinberg S.J. (Am. J. Hum. Genet. 2002)
    4. Characterisation of two mutations in the ABCD1 gene leading to low levels of normal ALDP. (PubMed id 11810273)1, 2, 9 Guimaraes C.P....Azevedo J.E. (Hum. Genet. 2001)
    5. Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: the first polymorphism causing an amino acid exchange. (PubMed id 11438993)1, 2, 9 Dvorakova L.... Berger J. (Hum. Mutat. 2001)
    6. Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters. (PubMed id 11248239)1, 2, 9 Roerig P.... Gaertner J. (FEBS Lett. 2001)
    7. Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy. (PubMed id 15643618)1, 2, 9 Montagna G.... Santorelli F.M. (Hum. Mutat. 2005)
    8. ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations. (PubMed id 11748843)1, 2, 9 Kemp S.... Moser H.W. (Hum. Mutat. 2001)
    9. Detection of mutations in the ALD gene (ABCD1) in seven Italian families: description of four novel mutations. (PubMed id 10980539)1, 2, 9 Lira M.G.... Salviati A. (Hum. Mutat. 2000)
    10. Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p. (PubMed id 10777694)1, 2, 9 Gloeckner C.J.... Roscher A.A. (Biochem. Biophys. Res. Commun. 2000)

    (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: 215 HGNC: 61 AceView: ABCD1 Ensembl:ENSG00000101986 euGenes: HUgn215
    ECgene: ABCD1 Kegg: 215 H-InvDB: ABCD1

    (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 ABCD1 Pharmacogenomics, SNPs, Pathways
    X-ALD gene mutation databasehttp://www.x-ald.nl/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ABCD1[genesymbol]
    ABCMdbhttp://abcmutations.hegelab.org/proteinDetails?uniprot_id=P33897

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ABCD1 gene:
    Search GeneIP for patents involving ABCD1

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



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