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

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: mouse all
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Genomic context

Location:: Xq28

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (153724856..153744755)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (151998519..152018419)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (152990311..153010209)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Structural insights into substrate recognition and translocation of human peroxisomal ABC transporter ALDP.
Title: Structural insights into substrate recognition and translocation of human peroxisomal ABC transporter ALDP.
Structural and functional insights of the human peroxisomal ABC transporter ALDP.
Title: Structural and functional insights of the human peroxisomal ABC transporter ALDP.
Structural basis of substrate recognition and translocation by human very long-chain fatty acid transporter ABCD1.
Title: Structural basis of substrate recognition and translocation by human very long-chain fatty acid transporter ABCD1.
Structural basis of acyl-CoA transport across the peroxisomal membrane by human ABCD1.
Title: Structural basis of acyl-CoA transport across the peroxisomal membrane by human ABCD1.
Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy.
Title: Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy.
Structures of the human peroxisomal fatty acid transporter ABCD1 in a lipid environment.
Title: Structures of the human peroxisomal fatty acid transporter ABCD1 in a lipid environment.
Drug discovery for X-linked adrenoleukodystrophy: An unbiased screen for compounds that lower very long-chain fatty acids.
Title: Drug discovery for X-linked adrenoleukodystrophy: An unbiased screen for compounds that lower very long-chain fatty acids.
Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene.
Title: Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene.
Investigating ABCD1 mutations in a Taiwanese cohort with hereditary spastic paraplegia phenotype.
Title: Investigating ABCD1 mutations in a Taiwanese cohort with hereditary spastic paraplegia phenotype.
Molecular Biomarkers for Adrenoleukodystrophy: An Unmet Need.
Title: Molecular Biomarkers for Adrenoleukodystrophy: An Unmet Need.

Submit: New GeneRIF Correction See all GeneRIFs (83)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G67205 (e-PCR)
- UniSTS:186376

G67214 (e-PCR)
- UniSTS:186377

GDB:511618 (e-PCR)
- UniSTS:157515

GDB:572900 (e-PCR)
- UniSTS:157780

GDB:523970 (e-PCR)
- UniSTS:157541

GDB:524010 (e-PCR)
- UniSTS:157542

GDB:524013 (e-PCR)
- UniSTS:157543

GDB:524016 (e-PCR)
- UniSTS:157544

GDB:524019 (e-PCR)
- UniSTS:157545

GDB:524020 (e-PCR)
- UniSTS:157546

GDB:524023 (e-PCR)
- UniSTS:157547

NoName (e-PCR)
- UniSTS:99200

GDB:376627 (e-PCR)
- UniSTS:157057

GDB:376680 (e-PCR)
- UniSTS:157058

GDB:376683 (e-PCR)
- UniSTS:157059

G65802 (e-PCR)
- UniSTS:166816

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
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
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 enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables fatty acyl-CoA hydrolase activity	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables long-chain fatty acid transmembrane transporter activity	EXP Inferred from Experiment more info	PubMed
enables long-chain fatty acid transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables long-chain fatty acid transmembrane transporter activity	IGI Inferred from Genetic Interaction more info	PubMed
enables long-chain fatty acid transmembrane 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
enables very long-chain fatty acyl-CoA hydrolase activity	IEA Inferred from Electronic Annotation more info

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
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
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
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
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

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	PubMed
located_in mitochondrial membrane	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in peroxisomal membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in peroxisomal membrane	IDA Inferred from Direct Assay more info	PubMed
located_in peroxisomal membrane	NAS Non-traceable Author Statement more info	PubMed
located_in peroxisomal membrane	TAS Traceable Author Statement more info
located_in peroxisome	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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

EC 7.6.2.4

XP_047297872.1

EC 7.6.2.4

XP_047297873.1

EC 7.6.2.4

XP_054182655.1

EC 7.6.2.4

XP_054182656.1

EC 7.6.2.4

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.

Genomic

NG_009022.2 RefSeqGene

Range

4989..24888

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1017

mRNA and Protein(s)

NM_000033.4 → NP_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:474 → 679

ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D

TIGR00954
Location:1 → 681

3a01203; Peroxysomal Fatty Acyl CoA Transporter (FAT) Family protein

pfam06472
Location:83 → 352

ABC_membrane_2; ABC transporter transmembrane region 2

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

153724856..153744755

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047441916.1 → XP_047297872.1 ATP-binding cassette sub-family D member 1 isoform X1
XM_047441917.1 → XP_047297873.1 ATP-binding cassette sub-family D member 1 isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060947.1 Alternate T2T-CHM13v2.0

Range

151998519..152018419

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054326680.1 → XP_054182655.1 ATP-binding cassette sub-family D member 1 isoform X1
XM_054326681.1 → XP_054182656.1 ATP-binding cassette sub-family D member 1 isoform X2