ABCD1 - ATP binding cassette subfamily D member 1 Gene

Homo sapiens

Also known as ALD; AMN; ALDP; ABC42

Gene ID: 215 | Gene type: protein coding

About ABCD1

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:153,724,856-153,744,755 (from NCBI)

This gene has 3 transcripts (splice variants), 181 orthologues, 3 paralogues and is associated with 6 phenotypes. Broad expression in fat (RPKM 8.1), small intestine (RPKM 7.9) and 25 other tissues.

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]

ABCD1 Products(1)

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables ABC-type fatty-acyl-CoA transporter activity	IDA IDA: Inferred from direct assay	15682271	GOA
enables ABC-type fatty-acyl-CoA transporter activity	IGI IGI: Inferred from genetic interaction	18757502	GOA
enables ADP binding	IDA IDA: Inferred from direct assay	16946495	GOA
enables ATP binding	IDA IDA: Inferred from direct assay	11248239	GOA
enables ATP hydrolysis activity	IDA IDA: Inferred from direct assay	11248239	GOA
enables ATPase-coupled transmembrane transporter activity	IDA IDA: Inferred from direct assay	29397936	GOA
enables enzyme binding	IPI IPI: Inferred from physical interaction	16781659	GOA
enables fatty acyl-CoA hydrolase activity	IDA IDA: Inferred from direct assay	29397936	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	10551832	GOA
enables long-chain fatty acid transmembrane transporter activity	EXP EXP: Inferred from Experiment	11500517	GOA
enables long-chain fatty acid transmembrane transporter activity	IGI IGI: Inferred from genetic interaction	18757502	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10551832	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	17609205	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in fatty acid beta-oxidation	IDA IDA: Inferred from direct assay	9425230	GOA
involved in fatty acid beta-oxidation	IGI IGI: Inferred from genetic interaction	18757502	GOA
involved in fatty acid beta-oxidation	IMP IMP: Inferred from mutant phenotype	23671276	GOA
involved in long-chain fatty acid catabolic process	IGI IGI: Inferred from genetic interaction	18757502	GOA
involved in long-chain fatty acid catabolic process	IMP IMP: Inferred from mutant phenotype	23671276	GOA
involved in long-chain fatty acid import into peroxisome	IGI IGI: Inferred from genetic interaction	18757502	GOA
involved in peroxisome organization	IDA IDA: Inferred from direct assay	9425230	GOA
involved in positive regulation of fatty acid beta-oxidation	IMP IMP: Inferred from mutant phenotype	23123468	GOA
involved in very long-chain fatty acid catabolic process	IDA IDA: Inferred from direct assay	9425230	GOA
involved in very long-chain fatty acid catabolic process	IGI IGI: Inferred from genetic interaction	18757502	GOA
involved in very long-chain fatty acid metabolic process	IDA IDA: Inferred from direct assay	29397936	GOA
involved in very long-chain fatty-acyl-CoA catabolic process	IMP IMP: Inferred from mutant phenotype	23671276	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	17761426	GOA
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	16946495	GOA
located in lysosomal membrane	IDA IDA: Inferred from direct assay	16946495	GOA
located in mitochondrial membrane	IDA IDA: Inferred from direct assay	16946495	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	17761426	GOA
located in peroxisomal membrane	IDA IDA: Inferred from direct assay	10640429	GOA
located in peroxisome	IDA IDA: Inferred from direct assay	9425230	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ABCD1 Protein Structure

ABC_membrane_2

ABC_tran

0
200
400
600
745 a.a.

Protein Preferred Names

Protein Names

ATP-binding cassette sub-family D member 1

ATP-binding cassette, sub-family D (ALD), member 1

ABCD1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	ABCD1	P33897	ABCD3	Homo sapiens	P28288	Y2H	10551832
Intra	ABCD1	P33897	HNRNPAB	Homo sapiens	Q99729	Crosslink	30021884
Intra	ABCD1	P33897	Abcd2	Mus musculus	Q61285	Y2H	10551832
Intra	ABCD1	P33897	ABCD2	Homo sapiens	Q9UBJ2	Ub Reconstruction	24658140
Intra	ABCD1	P33897	ABCD1	Homo sapiens	P33897	CoIP	10551832
Intra	ABCD1	P33897	Abcd3	Mus musculus	P55096	CoIP	10551832
Intra	ABCD1	P33897	ABCD1	Homo sapiens	P33897	Y2H	10551832
Cross	ABCD1	P33897	Abcd1	Mus musculus	P48410	CoIP	10551832

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Adrenoleukodystrophy

X-Linked Adrenoleukodystrophy	ALD
Siemerling-Creutzfeldt Disease	X-Ald
X-Linked Cerebral Adrenoleukodystrophy	Bronze Schilder Disease
Melanodermic Leukodystrophy	Addison Disease And Cerebral Sclerosis
Adrenomyeloneuropathy, Adult	Diffuse Sclerosis
X-Cald	Adrenomyeloneuropathy
Encephalitis Periaxialis Concentrica	Encephalitis Periaxialis, Schilder'S
Sudanophilic Cerebral Sclerosis	Ald Childhood Cerebral Form
Adrenoleukodystrophy X-Linked Cerebral Form	Adrenoleukodystrophy Childhood Cerebral Form
Childhood Cerebral Ald	Schilder Disease
X-Linked Ald	Adrenoleukodystrophy, X-Linked
Amn	Diffuse Cerebral Sclerosis Of Schilder
Systemic Scleroderma	Balo'S Concentric Sclerosis
Ald - [Adrenoleukodystrophy]	Addison-Schilder

Hypoadrenocorticism, Familial

Addison Disease	Primary Adrenocortical Insufficiency
Addison'S Disease	Adrenal Gland Hypofunction
Adrenal Hypoplasia	Adrenal Aplasia
Addison Disease, Chronic Adrenal Insufficiency	Primary Hypoadrenalism
Hypoadrenocorticism Familial	Autoimmune Addison Disease
Autoimmune Adrenalitis	Classic Addison Disease
Primary Addison Disease	Addisons Disease
Addison Disease, Susceptibility To	Autoimmune Primary Adrenal Insufficiency
Addison'S Disease Due To Autoimmunity

Chronic Primary Adrenal Insufficiency

Cpai	Chronic Adrenocorticoid Insufficiency

Adrenomyeloneuropathy

Amn	Adrenoleukodystrophy

Spondyloepimetaphyseal Dysplasia, X-Linked

X-Linked Spondyloepimetaphyseal Dysplasia	SEMDX
Semd, X-Linked	Semd X-Linked
Spondyloepimetaphyseal Dysplasia X-Linked	Spondylo-Epimetaphyseal Dysplasia

Hirschsprung Disease 1

Hirschsprung Disease	Aganglionic Megacolon
Hscr	Hirschsprung'S Disease
Congenital Megacolon	Congenital Intestinal Aganglionosis
Colonic Aganglionosis	Hirschsprung Disease, Susceptibility To, 1
Hirschsprung Disease, Protection Against	HSCR1
Mgc	Pelvirectal Achalasia
Total Intestinal Aganglionosis	Megacolon, Aganglionic
Macrocolon	Hscr 1
Hirschsprung Disease Type 1	Hirschsprung Disease, Type 1
Congenital Dilatation Of Colon	Aganglionosis
Congenital Aganglionic Megacolon	Aganglionosis Of Colon
Bowel Aganglionosis	Colon Aganglionosis
Hirschsprung Megacolon

Deafness, Dystonia, And Cerebral Hypomyelination

Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome	DDCH
Cadds	Severe Motor And Intellectual Disabilities-Sensorineural Hearing Loss-Dystonia Syndrome
Contiguous Abcd1 Dxs1357e Deletion Syndrome	Zellweger-Like Contiguous Gene Deletion Syndrome
Contiguous Abcd1/Dxs1375e Deletion Syndrome	Deafness, Dystonia, Cerebral Hypomyelination
Contiguous Abcd1-Dxs1375e Deletion Syndrome

Peroxisomal Disease

Peroxisomal Disorder	Peroxisomal Disorders
Peroxisomal Defects

Myocarditis

Myocardial Inflammation

Inflammatory Cardiomyopathy

Encephalitis

Mumps Encephalitis	Mumps Meningoencephalitis
Herpes Simplex Neuroinvasion	Herpetic Encephalitis
Herpetic Encephalopathy	Herpes Simplex Encephalitis, Myelitis Or Encephalomyelitis
Encephalitis Due To Herpesviridae	Encephalitis Due To Herpesvirus
Herpes Encephalitis	Herpesviral Encephalitis
Herpes Simplex Encephalitis	Hsv - [Herpes Simplex Virus] Encephalitis
Herpes Virus Encephalitis	Simian B Disease
Simian B Disorder	Encephalitis Nec
Idiopathic Encephalitis

Cortical Blindness

Blindness, Cortical

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Cerebral Degeneration

Brain Degeneration

Degenerative Brain Disorder

Demyelinating Disease

Demyelinating Diseases

Demyelinating Disorder

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Zellweger Syndrome

Cerebrohepatorenal Syndrome	Zellweger Leukodystrophy
Zs	Congenital Iron Overload
Chr	Zws
Severe Pbd-Zsd	Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Bile Acid Synthesis Defect, Congenital, 5

Congenital Bile Acid Synthesis Defect 5	CBAS5
Bile Acid Synthesis Defect, Congenital, Type 5

Adrenal Cortical Hypofunction

Adrenal Cortical Insufficiency

Corticoadrenal Insufficiency

Retinal Dystrophy With Leukodystrophy

RDLKD	Acbd5 Deficiency
Dystrophy, Retinal, With Leukodystrophy

Peroxisomal Biogenesis Disorder

Zellweger Spectrum Disorders	Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum
Disorders Of Peroxisome Biogenesis	Zellweger Spectrum
Zellweger Syndrome Spectrum	Peroxisomal Biogenesis Disorders
Pbd, Zss	Pbd-Zsd
Pbd-Zss	Pbd-Zellweger Spectrum Disorder
Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum	Peroxisome Biogenesis Disorder
Peroxisome Biogenesis Disorder Spectrum	Peroxisome Biogenesis Disorders
Zellweger Spectrum Disorder	Hyperpipecolic Acidaemia

Exhibitionism

Tangier Disease

Analphalipoproteinemia	High Density Lipoprotein Deficiency, Tangier Type
TGD	High Density Lipoprotein Deficiency, Type 1
Hdldt1	Familial High Density Lipoprotein Deficiency
A-Alphalipoprotein Neuropathy	Alpha High Density Lipoprotein Deficiency Disease
Cholesterol Thesaurismosis	Familial High Density Lipoprotein Deficiency Disease
Hdl Lipoprotein Deficiency Disease	Tangier Disease Neuropathy
Familial Alpha-Lipoprotein Deficiency	Familial High-Density Lipoprotein Deficiency 1
Primary Hypoalphalipoproteinemia 1	Analphalipo-Proteinemia
Familial Hypoalphalipo-Proteinemia	Familial Hypoalphalipoproteinemia
Lipoprotein Deficiency Disease, Hdl, Familial	Tangier Hereditary Neuropathy
Atp-Binding Cassette Transporter A1 Deficiency	Hdld1
High Density Lipoprotein Deficiency 1	Tangier Disease, Variant
Hypoalphalipoproteinemia, Familial	Familial Hdl Deficiency

D-Bifunctional Protein Deficiency

Bifunctional Peroxisomal Enzyme Deficiency	17-Beta-Hydroxysteroid Dehydrogenase Iv Deficiency
Dbp Deficiency	Peroxisomal Bifunctional Enzyme Deficiency
Pbfe Deficiency	Bifunctional Enzyme Deficiency
Pseudo-Zellweger Syndrome	Zellweger-Like Syndrome
DBPD	Protein Deficiency, D-Bifunctional

Adrenal Cortex Disease

Adrenal Cortex Diseases

Leukodystrophy

Leukodystrophies

Peroxisome Biogenesis Disorder 1b

Peroxisome Biogenesis Disorder	Infantile Refsum Disease
Infantile Phytanic Acid Storage Disease	PBD1B
Refsum Disease, Infantile	Adrenoleukodystrophy, Autosomal Neonatal
Ird	Mild Pbd-Zsd
Mild Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder	Pbd-Zsd
Peroxisome Biogenesis Disorder Spectrum	Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Autosomal Neonatal Adrenoleukodystrophy	Refsum Disease Infantile
Peroxisome Biogenesis Disorders	Peroxisome Biogenesis Disorder, Type 1b

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-145272	ELOVL1-IN-3		99.81%	Unkown
HY-RS00068	ABCD1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	ABCD1	VGNC	VGNC:37445
Mus musculus	ABCD1	MGD	MGI:1349215
Macaca mulatta	ABCD1	VGNC	VGNC:69577
Rattus norvegicus	ABCD1	RGD	RGD:1562128
Bos taurus	ABCD1	VGNC	VGNC:25477
Felis catus	ABCD1	VGNC	VGNC:67813
Others	ABCD1	NCBI

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