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ABCD1 ATP binding cassette subfamily D member 1 [ Homo sapiens (human) ]

Gene ID: 215, updated on 5-Aug-2022

Summary

Official Symbol
ABCD1provided by HGNC
Official Full Name
ATP binding cassette subfamily D member 1provided by HGNC
Primary source
HGNC:HGNC:61
See related
Ensembl:ENSG00000101986 MIM:300371; AllianceGenome:HGNC:61
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ALD; AMN; ALDP; ABC42
Summary
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]
Expression
Broad expression in fat (RPKM 8.1), small intestine (RPKM 7.9) and 25 other tissues See more
Orthologs
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Genomic context

See ABCD1 in Genome Data Viewer
Location:
Xq28
Exon count:
11
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (153724856..153744755)
110 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (151998519..152018419)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (152990311..153010209)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 6 member 8 Neighboring gene Sharpr-MPRA regulatory region 5891 Neighboring gene B cell receptor associated protein 31 Neighboring gene uncharacterized LOC124905226 Neighboring gene PLXNB3 antisense RNA 1 Neighboring gene plexin B3 Neighboring gene uncharacterized LOC124905227 Neighboring gene SRSF protein kinase 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Adrenoleukodystrophy
MedGen: C0162309 OMIM: 300100 GeneReviews: X-Linked Adrenoleukodystrophy
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2020-12-02)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2020-12-02)

ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ABC-type fatty-acyl-CoA transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
enables ABC-type fatty-acyl-CoA transporter activity IGI
Inferred from Genetic Interaction
more info
PubMed 
enables ADP binding IDA
Inferred from Direct Assay
more info
PubMed 
enables ATP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
enables ATP hydrolysis activity IDA
Inferred from Direct Assay
more info
PubMed 
enables ATPase-coupled transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables ATPase-coupled transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
enables ATPase-coupled transmembrane transporter activity NAS
Non-traceable Author Statement
more info
PubMed 
enables acyl-CoA hydrolase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables long-chain fatty acid transporter activity EXP
Inferred from Experiment
more info
PubMed 
enables long-chain fatty acid transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables long-chain fatty acid transporter activity IGI
Inferred from Genetic Interaction
more info
PubMed 
enables long-chain fatty acid transporter activity TAS
Traceable Author Statement
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in alpha-linolenic acid metabolic process TAS
Traceable Author Statement
more info
 
involved_in fatty acid beta-oxidation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in fatty acid beta-oxidation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in fatty acid beta-oxidation IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in fatty acid beta-oxidation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in fatty acid elongation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in fatty acid homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in fatty-acyl-CoA transport IEA
Inferred from Electronic Annotation
more info
 
involved_in linoleic acid metabolic process TAS
Traceable Author Statement
more info
 
involved_in long-chain fatty acid catabolic process IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in long-chain fatty acid catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in long-chain fatty acid import into peroxisome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in long-chain fatty acid import into peroxisome IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in myelin maintenance ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of cytokine production involved in inflammatory response ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of reactive oxygen species biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in neuron projection maintenance ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in peroxisomal membrane transport NAS
Non-traceable Author Statement
more info
PubMed 
involved_in peroxisome organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in peroxisome organization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in peroxisome organization NAS
Non-traceable Author Statement
more info
PubMed 
involved_in positive regulation of fatty acid beta-oxidation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of fatty acid beta-oxidation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of unsaturated fatty acid biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of cellular response to oxidative stress ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of fatty acid beta-oxidation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of mitochondrial depolarization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of oxidative phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in sterol homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in very long-chain fatty acid catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in very long-chain fatty acid catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in very long-chain fatty acid catabolic process IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in very long-chain fatty acid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in very long-chain fatty-acyl-CoA catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

Preferred Names
ATP-binding cassette sub-family D member 1
Names
ATP-binding cassette, sub-family D (ALD), member 1
adrenoleukodystrophy protein
NP_000024.2
XP_047297872.1
XP_047297873.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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.

Genomic

  1. NG_009022.2 RefSeqGene

    Range
    4989..24888
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1017

mRNA and Protein(s)

  1. NM_000033.4NP_000024.2  ATP-binding cassette sub-family D member 1

    See identical proteins and their annotated locations for NP_000024.2

    Status: REVIEWED

    Source sequence(s)
    BC015541, BC025358, U52111
    Consensus CDS
    CCDS14728.1
    UniProtKB/Swiss-Prot
    P33897, Q6GTZ2
    Related
    ENSP00000218104.3, ENST00000218104.6
    Conserved Domains (3) summary
    cd03223
    Location:474679
    ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D
    TIGR00954
    Location:1681
    3a01203; Peroxysomal Fatty Acyl CoA Transporter (FAT) Family protein
    pfam06472
    Location:83352
    ABC_membrane_2; ABC transporter transmembrane region 2

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    153724856..153744755
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047441916.1XP_047297872.1  ATP-binding cassette sub-family D member 1 isoform X1

  2. XM_047441917.1XP_047297873.1  ATP-binding cassette sub-family D member 1 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    151998519..152018419
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)