ABCD4 - ATP binding cassette subfamily D member 4 Gene

Also Known as P70R; P79R; ABC41; MAHCJ; PMP69; PXMP1L; EST352188

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5826

About ABCD4

Cytogenetic location: 14q24.3 Genomic coordinates (GRCh38): 14:74,285,269-74,302,934 (from NCBI)

This gene has 28 transcripts (splice variants), 210 orthologues, 3 paralogues and is associated with 3 phenotypes. Ubiquitous expression in small intestine (RPKM 8.4), duodenum (RPKM 8.2) 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. The function of this peroxisomal membrane protein is unknown. However, it is speculated that it may function as a heterodimer for another peroxisomal ABC transporter and, therefore, may modify the adrenoleukodystrophy phenotype. It may also play a role in the process of peroxisome biogenesis. Alternative splicing results in several protein-coding and non-protein-coding variants. [provided by RefSeq, Jul 2017]

ABCD4 Products (23)

mRNA	Protein	Name
NM_001353591.2	NP_001340520.1	lysosomal cobalamin transporter ABCD4 isoform d
NM_001353592.2	NP_001340521.1	lysosomal cobalamin transporter ABCD4 isoform e
NM_001353593.2	NP_001340522.1	lysosomal cobalamin transporter ABCD4 isoform f
NM_001353594.2	NP_001340523.1	lysosomal cobalamin transporter ABCD4 isoform g
NM_001353595.2	NP_001340524.1	lysosomal cobalamin transporter ABCD4 isoform h
NM_001353596.2	NP_001340525.1	lysosomal cobalamin transporter ABCD4 isoform h
NM_001353597.2	NP_001340526.1	lysosomal cobalamin transporter ABCD4 isoform i
NM_001353598.2	NP_001340527.1	lysosomal cobalamin transporter ABCD4 isoform c
NM_001353599.2	NP_001340528.1	lysosomal cobalamin transporter ABCD4 isoform j
NM_001353600.2	NP_001340529.1	lysosomal cobalamin transporter ABCD4 isoform j
NM_001353601.2	NP_001340530.1	lysosomal cobalamin transporter ABCD4 isoform j
NM_001353602.2	NP_001340531.1	lysosomal cobalamin transporter ABCD4 isoform k
NM_001353603.2	NP_001340532.1	lysosomal cobalamin transporter ABCD4 isoform k
NM_001353604.2	NP_001340533.1	lysosomal cobalamin transporter ABCD4 isoform k
NM_001353605.2	NP_001340534.1	lysosomal cobalamin transporter ABCD4 isoform k
NM_001353606.2	NP_001340535.1	lysosomal cobalamin transporter ABCD4 isoform l
NM_001353607.2	NP_001340536.1	lysosomal cobalamin transporter ABCD4 isoform l
NM_001353608.2	NP_001340537.1	lysosomal cobalamin transporter ABCD4 isoform l
NM_001353609.2	NP_001340538.1	lysosomal cobalamin transporter ABCD4 isoform l
NM_001353610.2	NP_001340539.1	lysosomal cobalamin transporter ABCD4 isoform m
NM_005050.4	NP_005041.1	lysosomal cobalamin transporter ABCD4 isoform a
NM_020324.3	NP_064720.1	lysosomal cobalamin transporter ABCD4 isoform c
NM_020325.3	NP_064730.1	lysosomal cobalamin transporter ABCD4 isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ABC-type vitamin B12 transporter activity	EXP EXP: Inferred from Experiment	33845046	GOA
enables ABC-type vitamin B12 transporter activity	IDA IDA: Inferred from direct assay	33845046	GOA
enables ABC-type vitamin B12 transporter activity	IMP IMP: Inferred from mutant phenotype	33845046	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	27456980	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25535791	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cobalamin metabolic process	IDA IDA: Inferred from direct assay	33845046	GOA
involved in cobalamin metabolic process	IMP IMP: Inferred from mutant phenotype	22922874	GOA
involved in cobalamin transport	IMP IMP: Inferred from mutant phenotype	33845046	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	27456980	GOA
is active in lysosomal membrane	IDA IDA: Inferred from direct assay	33845046	GOA
located in lysosomal membrane	IDA IDA: Inferred from direct assay	27456980	GOA
NOT located in peroxisome	IDA IDA: Inferred from direct assay	19010322	GOA
located in peroxisome	IDA IDA: Inferred from direct assay	9302272	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

ABCD4 Protein Structure

ABC_membrane_2

ABC_tran

0
100
200
300
400
500
606 a.a.

Protein Preferred Names	Protein Names
lysosomal cobalamin transporter ABCD4	69 kDa peroxisomal ABC-transporter

ABCD4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ABCD4	O14678	LMBRD1	Homo sapiens	Q9NUN5	Confocal	28572511
Intra	ABCD4	O14678	LMBRD1	Homo sapiens	Q9NUN5	Confocal	27456980
Intra	ABCD4	O14678	LMBRD1	Homo sapiens	Q9NUN5	Anti Bait CoIP	27456980
Intra	ABCD4	O14678	LMBRD1	Homo sapiens	Q9NUN5	Anti Tag CoIP	27456980
Intra	ABCD4	O14678	FAM234B	Homo sapiens	A2RU67	Anti Tag CoIP	33961781
Intra	ABCD4	O14678	ATP5F1B	Homo sapiens	P06576	Crosslink	30021884
Intra	ABCD4	O14678	ABCD4	Homo sapiens	O14678	Anti Tag CoIP	27456980
Intra	ABCD4	O14678	FCGRT	Homo sapiens	P55899	Anti Tag CoIP	33961781
Intra	ABCD4	O14678	PEA15	Homo sapiens	Q15121	Y2H Pooling	16169070
Intra	ABCD4	O14678	ABCD4	Homo sapiens	O14678	Crosslink	27456980
Intra	ABCD4	O14678	XRCC6	Homo sapiens	P12956	Y2H Pooling	16169070
Intra	ABCD4	O14678	PUS1	Homo sapiens	Q9Y606	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic Acidemia With Homocystinuria, Type Cblj MAHCJ Cblj Defects Cobalamin J Defect Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblj Methylmalonic Aciduria With Homocystinuria, Type Cblj Methylmalonic Aciduria And Homocystinuria Type Cblj Aciduria, Methylmalonic, And Homocystinuria, Cblj Type
Methylmalonic Aciduria And Homocystinuria, Cblc Type	MAHCC Vitamin B12 Metabolic Defect With Combined Deficiency Of Methylmalonyl-Coa Mutase And Homocysteine:Methyltetrahydrofolate Methyltransferase Methylmalonic Aciduria And Homocystinuria, Cblc Type, Digenic Methylmalonic Aciduria And Homocystinuria Type Cblc Cobalamin C Disease Methylmalonic Acidemia With Homocystinuria Cblc Methylmalonic Acidemia And Homocystinuria, Cblc Type Methylmalonic Aciduria And Homocystinuria, Vitamin B12-Responsive Cobalamin C Deficiency Methylmalonic Acidemia With Homocystinuria, Type Cblc Cblc Defect Cobalamin C Defect Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblc Methylmalonic Aciduria With Homocystinuria, Type Cblc Methylmalonic Acidemia And Homocystinuria Cblc Type Methylmalonic Aciduria And Homocystinuria Vitamin B12-Responsive Aciduria, Methylmalonic, And Homocystinuria, Cblc Type Methylmalonic Acidemia With Homocystinuria
Disorders Of Intracellular Cobalamin Metabolism
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
Bile Acid Synthesis Defect, Congenital, 5	Congenital Bile Acid Synthesis Defect 5 CBAS5 Bile Acid Synthesis Defect, Congenital, Type 5
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic Aciduria And Homocystinuria Type Cblf MAHCF Methylmalonic Aciduria Due To Vitamin B12-Release Defect Vitamin B12 Lysosomal Release Defect Cobalamin F Disease Cblf Methylmalonic Acidemia And Homocystinuria, Cblf Type Cobalamin, Defect In Lysosomal Release Of Vitamin B12 Storage Disease Cobalamin F Deficiency Methylmalonic Acidemia With Homocystinuria Type Cblf Cblf Defect Cobalamin F Defect Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblf Lysosomal Membrane Cobalamin Transporter Deficiency Methylmalonic Aciduria With Homocystinuria, Type Cblf Methylcobalamin Deficiency Tape F Methylmalonic Acidemia And Homocystinuria Cblf Type Vitamin B12 Storage Defect Aciduria, Methylmalonic, And Homocystinuria, Cblf Type
Homocystinuria	Cystathionine Beta Synthase Deficiency Homocysteinemia Cbs Deficiency Cystathionine Synthase Deficiency Cystathionine Beta-Synthase Deficiency Disease
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Homocystinuria, Cbld Type, Variant 1 Methylmalonic Aciduria And Homocystinuria Type Cbld Vitamin B12-Responsive Methylmalonic Acidemia, Type Cbldv2 MAHCD Methylmalonic Acidemia And Homocystinuria, Cbld Type Methylmalonic Aciduria, Cblh Type, Formerly Methylmalonic Acidemia, Cblh Type, Formerly Methylmalonic Aciduria, Cbld Type, Variant 2 Cobalamin D Deficiency Methylcobalamin Deficiency Type Cbldv1 Functional Methionine Synthase Deficiency Type Cbldv1 Vitamin B12-Responsive Methylmalonic Aciduria, Type Cbldv2 Methylmalonic Acidemia With Homocystinuria, Type Cbld Cbld Defect Cobalamin D Defect Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cbld Methylmalonic Aciduria With Homocystinuria, Type Cbld Homocystinuria Cbld Variant 1 Methylmalonic Acidemia And Homocystinuria Cbld Type Methylmalonic Aciduria And Homocystinuria Cbld-Combined Methylmalonic Aciduria And Homocystinuria Cbld Original Methylmalonic Aciduria Cbld Variant 2 Aciduria, Methylmalonic, And Homocystinuria, Cbld Type
Gallbladder Papillomatosis
Congenital Bile Acid Synthesis Defect	3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency Cba Cholestasis With Delta(4)-3-Oxosteroid-5-Beta-Reductase Deficiency Basd Bile Acid Synthesis Defect, Congenital, 1
Gaucher Disease, Type Iii	Gaucher Disease, Subacute Neuronopathic Type Gd Iii Gaucher Disease, Chronic Neuronopathic Type Gaucher Disease, Juvenile And Adult, Cerebral Gaucher Disease Type 3 GD3 Gaucher'S Disease Type Iii Gaucher Disease Type Iii Gd 3 Cerebral Juvenile And Adult Form Of Gaucher Disease Chronic Neuronopathic Gaucher Disease Gaucher Disease 3 Cerebral, Juvenile And Adult, Gaucher Disease Gaucher Disease Chronic Neuronopathic Type Gaucher Disease Type Ii Subacute Neuronopathic Gaucher Disease Type 3 Gaucher Disease Gaucher Disease, Type 3 Gaucher Disease, Type 2
Methylmalonic Acidemia	Methylmalonic Aciduria Mma Acidemia, Methylmalonic Isolated Methylmalonic Acidemia
Vitamin B12 Deficiency	Cobalamin Deficiency Hypocobalaminemia Vitamin B 12 Deficiency Cyanocobalamin Deficiency Deficiency Of Vitamin B12
Vitamin Metabolic Disorder
Organic Acidemia	Organic Aciduria Disorder Of Organic Acid Metabolism Organic Acid Metabolism Disorder Organic Acidemias Inherited Organic Acidemia Organic Acidurias Aciduria Organic
Megaloblastic Anemia	Imerslund-Grasbeck Syndrome Igs Defect Of Enterocyte Intrinsic Factor Receptor Enterocyte Cobalamin Malabsorption Familial Megaloblastic Anemia Megaloblastic Anemia 1 Selective Cobalamin Malabsorption With Proteinuria Imerslund-Gräsbeck Syndrome Anemia, Megaloblastic Grasbeck-Imerslund Syndrome Megaloblastic Anaemia Mga1 Norwegian Type Recessive Hereditary Megaloblastic Anaemia 1 Recessive Hereditary Megaloblastic Anemia 1 Rh-Mga1 Gräsbeck-Imerslund Disease Pernicious Anemia, Juvenile, Due To Selective Intestinal Malabsorption Of Vitamin B12, With Proteinuria Juvenile Pernicious Anemia With Proteinuria Due To Selective Intestinal Malabsorption Of Vitamin B12 Anemia Megaloblastic Megaloblastic Anemia Due To Inborn Errors Of Metabolism 3-@Methylglutaconic Aciduria, Type I
Cerebral Degeneration	Brain Degeneration Degenerative Brain Disorder
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
Zellweger Syndrome	Cerebrohepatorenal Syndrome Zellweger Leukodystrophy Zs Congenital Iron Overload Chr Zws Severe Pbd-Zsd Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Leukodystrophy	Leukodystrophies
Benign Epilepsy With Centrotemporal Spikes	Rolandic Epilepsy Benign Rolandic Epilepsy Epilepsy, Rolandic Bcects Benign Childhood Epilepsy With Centrotemporal Spike Sylvan Seizures Becrs Bects Bre Benign Epilepsy Of Childhood With Centrotemporal Spikes Benign Familial Epilepsy Of Childhood With Rolandic Spikes Centrotemporal Epilepsy

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00071	ABCD4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22366	Abcd4 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28890	Abcd4 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	ABCD4	VGNC	VGNC:68137
Canis familiaris	ABCD4	VGNC	VGNC:37448
Bos taurus	ABCD4	VGNC	VGNC:55099
Mus musculus	ABCD4	MGD	MGI:1349217
Rattus norvegicus	ABCD4	RGD	RGD:1307273
Macaca mulatta	ABCD4	VGNC	VGNC:69580
Others	ABCD4	NCBI