Format

Send to:

Choose Destination

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

Gene ID: 215, updated on 21-Apr-2019

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
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

Genomic context

See ABCD1 in Genome Data Viewer
Location:
Xq28
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (153724851..153744762)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (152990323..153010216)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 6 member 8 Neighboring gene B cell receptor associated protein 31 Neighboring gene uncharacterized LOC102723591 Neighboring gene plexin B3 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 FunctionsWhat'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 (2012-04-26)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-04-26)

ClinGen Genome Curation Page

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • ABC transporters, organism-specific biosystem (from KEGG)
    ABC transporters, organism-specific biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
  • ABC transporters, conserved biosystem (from KEGG)
    ABC transporters, conserved biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
  • ABC transporters in lipid homeostasis, organism-specific biosystem (from REACTOME)
    ABC transporters in lipid homeostasis, organism-specific biosystemA defined subset of the ABC transporter superfamily, the ABCA transporters, are highly expressed in monocytes and macrophages and are regulated by cholesterol flux which may indicate their role in in...
  • ABC-family proteins mediated transport, organism-specific biosystem (from REACTOME)
    ABC-family proteins mediated transport, organism-specific biosystemThe ATP-binding cassette (ABC) superfamily of active transporters involves a large number of functionally diverse transmembrane proteins. They transport a variety of compounds through membranes agai...
  • Beta-oxidation of very long chain fatty acids, organism-specific biosystem (from REACTOME)
    Beta-oxidation of very long chain fatty acids, organism-specific biosystemLinear fatty acids containing more than 18 carbons are broken down by beta-oxidation in peroxisomes to yield acetyl-CoA and medium chain-length fatty acyl CoA's such as octanoyl-CoA (Wanders and Wate...
  • Linoleic acid (LA) metabolism, organism-specific biosystem (from REACTOME)
    Linoleic acid (LA) metabolism, organism-specific biosystemLinoleic acid (LA, 18:2(n-6)) is an omega-6 fatty acid obtained through diet, mainly from vegetable oils. Omega-6 fatty acids helps stimulate skin and hair growth, maintain bone health, regulate meta...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Peroxisomal lipid metabolism, organism-specific biosystem (from REACTOME)
    Peroxisomal lipid metabolism, organism-specific biosystemIn humans, the catabolism of phytanate, pristanate, and very long chain fatty acids as well as the first four steps of the biosynthesis of plasmalogens are catalyzed by peroxisomal enzymes. Defects i...
  • Peroxisome, organism-specific biosystem (from KEGG)
    Peroxisome, organism-specific biosystemPeroxisomes are essential organelles that play a key role in redox signalling and lipid homeostasis. They contribute to many crucial metabolic processes such as fatty acid oxidation, biosynthesis of ...
  • Peroxisome, conserved biosystem (from KEGG)
    Peroxisome, conserved biosystemPeroxisomes are essential organelles that play a key role in redox signalling and lipid homeostasis. They contribute to many crucial metabolic processes such as fatty acid oxidation, biosynthesis of ...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules
  • alpha-linolenic (omega3) and linoleic (omega6) acid metabolism, organism-specific biosystem (from REACTOME)
    alpha-linolenic (omega3) and linoleic (omega6) acid metabolism, organism-specific biosystemThere are two major classes of polyunsaturated fatty acids (PUFAs): the omega-3 (n-3) and the omega-6 (n-6) fatty acids, where the number corresponds to the position of the first double bond proximat...
  • alpha-linolenic acid (ALA) metabolism, organism-specific biosystem (from REACTOME)
    alpha-linolenic acid (ALA) metabolism, organism-specific biosystemAlpha-linolenic acid (ALA, 18:3(n-3)) is an omega-3 fatty acid, supplied through diet as it cannot be synthesized by humans. ALA has an important role in human health. It is converted to long chain m...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ADP binding IDA
Inferred from Direct Assay
more info
PubMed 
ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
ATPase activity, coupled to transmembrane movement of substances NAS
Non-traceable Author Statement
more info
PubMed 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
fatty-acyl-CoA transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
fatty-acyl-CoA transmembrane transporter activity IGI
Inferred from Genetic Interaction
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
long-chain fatty acid transporter activity EXP
Inferred from Experiment
more info
PubMed 
long-chain fatty acid transporter activity IGI
Inferred from Genetic Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
alpha-linolenic acid metabolic process TAS
Traceable Author Statement
more info
 
fatty acid beta-oxidation IDA
Inferred from Direct Assay
more info
PubMed 
fatty acid beta-oxidation IGI
Inferred from Genetic Interaction
more info
PubMed 
fatty acid beta-oxidation IMP
Inferred from Mutant Phenotype
more info
PubMed 
fatty acid beta-oxidation using acyl-CoA oxidase TAS
Traceable Author Statement
more info
 
fatty acid elongation ISS
Inferred from Sequence or Structural Similarity
more info
 
fatty acid homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
fatty-acyl-CoA transport IEA
Inferred from Electronic Annotation
more info
 
linoleic acid metabolic process TAS
Traceable Author Statement
more info
 
long-chain fatty acid catabolic process IGI
Inferred from Genetic Interaction
more info
PubMed 
long-chain fatty acid catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
myelin maintenance ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of cytokine production involved in inflammatory response ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of reactive oxygen species biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron projection maintenance ISS
Inferred from Sequence or Structural Similarity
more info
 
peroxisomal long-chain fatty acid import IGI
Inferred from Genetic Interaction
more info
PubMed 
peroxisomal membrane transport NAS
Non-traceable Author Statement
more info
PubMed 
peroxisome organization IDA
Inferred from Direct Assay
more info
PubMed 
peroxisome organization NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of fatty acid beta-oxidation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of fatty acid beta-oxidation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of unsaturated fatty acid biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cellular response to oxidative stress ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of fatty acid beta-oxidation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of mitochondrial depolarization ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of oxidative phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
sterol homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
transmembrane transport TAS
Traceable Author Statement
more info
 
very long-chain fatty acid catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
very long-chain fatty acid catabolic process IGI
Inferred from Genetic Interaction
more info
PubMed 
very long-chain fatty-acyl-CoA catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of peroxisomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of peroxisomal membrane NAS
Non-traceable Author Statement
more info
PubMed 
lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
membrane HDA PubMed 
mitochondrial membrane IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
peroxisomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
peroxisomal membrane TAS
Traceable Author Statement
more info
 
peroxisome IDA
Inferred from Direct Assay
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

NCBI Reference Sequences (RefSeq)

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
    5001..24895
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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
    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 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

    Range
    153724851..153744762
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_938507.2 RNA Sequence

Support Center