ABCD1 - ATP binding cassette subfamily D member 1 Gene

Also Known as ALD; AMN; ALDP; ABC42

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 215

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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

ABCD1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P86759	ABCD1/ALD Antibody (YA6452)	WB, ICC/IF	Human, Mouse, Rat

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

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-160004	PXL770	Activator	99.56%	Phase 2

Pre-clinical Phase

Bioactive Molecules (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-145272	ELOVL1-IN-3		99.93%	Unkown
HY-RS00068	ABCD1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS02092	CCL22 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS16703	Ccl22 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17901	Abcd1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24370	Abcd1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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