ABCA3 - ATP binding cassette subfamily A member 3 Gene

Also Known as ABC3; ABC-C; SMDP3; LBM180; EST111653

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 21

About ABCA3

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:2,275,881-2,340,728 (from NCBI)

This gene has 6 transcripts (splice variants), 240 orthologues, 11 paralogues and is associated with 4 phenotypes. Biased expression in lung (RPKM 66.7), brain (RPKM 21.3) and 5 other tissues.

Summary

The membrane-associated 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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The full transporter encoded by this gene may be involved in development of resistance to xenobiotics and engulfment during programmed cell death. [provided by RefSeq, Jul 2008]

ABCA3 Products (1)

mRNA	Protein	Name
NM_001089.3	NP_001080.2	phospholipid-transporting ATPase ABCA3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ABC-type xenobiotic transporter activity	IMP IMP: Inferred from mutant phenotype	26903515	GOA
enables ATP hydrolysis activity	IDA IDA: Inferred from direct assay	16959783	GOA
enables phosphatidylcholine flippase activity	IMP IMP: Inferred from mutant phenotype	27177387	GOA
enables phosphatidylcholine transfer activity	IMP IMP: Inferred from mutant phenotype	28887056	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in phosphatidylcholine metabolic process	IMP IMP: Inferred from mutant phenotype	17574245	GOA
involved in phospholipid transport	IMP IMP: Inferred from mutant phenotype	28887056	GOA
involved in positive regulation of cholesterol efflux	IMP IMP: Inferred from mutant phenotype	25817392	GOA
involved in positive regulation of phospholipid efflux	IMP IMP: Inferred from mutant phenotype	31473345	GOA
involved in positive regulation of phospholipid transport	IMP IMP: Inferred from mutant phenotype	27177387	GOA
involved in positive regulation of protein homooligomerization	IDA IDA: Inferred from direct assay	27352740	GOA
involved in regulation of phosphatidylcholine metabolic process	IMP IMP: Inferred from mutant phenotype	25817392	GOA
involved in xenobiotic export from cell	IMP IMP: Inferred from mutant phenotype	26903515	GOA
involved in xenobiotic transmembrane transport	IMP IMP: Inferred from mutant phenotype	26903515	GOA
involved in xenobiotic transport	IMP IMP: Inferred from mutant phenotype	26903515	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in alveolar lamellar body	IDA IDA: Inferred from direct assay	11718719	GOA
located in alveolar lamellar body membrane	IDA IDA: Inferred from direct assay	11940594	GOA
located in cytoplasmic vesicle membrane	IDA IDA: Inferred from direct assay	16959783	GOA
located in lamellar body	IDA IDA: Inferred from direct assay	27177387	GOA
located in lamellar body membrane	IDA IDA: Inferred from direct assay	20863830	GOA
located in late endosome	IDA IDA: Inferred from direct assay	27177387	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	11718719	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

ABCA3 Protein Structure

ABC2_membrane_3

ABC_tran

ABC2_membrane_3

ABC_tran

0
300
600
900
1200
1500
1704 a.a.

Protein Preferred Names	Protein Names
phospholipid-transporting ATPase ABCA3	ABC transporter 3

Related Diseases

Diseases	Alias
Surfactant Metabolism Dysfunction, Pulmonary, 3	Interstitial Lung Disease Due To Abca3 Deficiency SMDP3 Pulmonary Alveolar Proteinosis, Congenital, 3 Interstitial Lung Disease Due To Atp-Binding Cassette Subfamily A Member 3 Deficiency Pulmonary Surfactant Metabolism Dysfunction 3 Congenital Pulmonary Alveolar Proteinosis 3 Pap Surfactant Metabolism Dysfunction, Pulmonary, Type 3
Primary Interstitial Lung Disease Specific To Childhood Due To Pulmonary Surfactant Protein Anomalies	Primary Ild Specific To Childhood Due To Pulmonary Surfactant Protein Anomalies
Newborn Respiratory Distress Syndrome	Hyaline Membrane Disease Respiratory Distress Syndrome Of Newborn Neonatal Respiratory Distress Hmd - Hyaline Membrane Disease Neonatal Respiratory Distress Syndrome Pulmonary Hyaline Membrane Disease Pulmonary Hypoperfusion Syndrome Of Newborn Respiratory Distress Syndrome, Newborn Respiratory Distress Syndrome Cardiorespiratory Distress Syndrome Of Newborn Distress Respiratory Syndrome Newborn Idiopathic Respiratory Distress Syndrome Idiopathic Respiratory Distress Syndrome Of Newborn Newborn Idiopathic Respiratory Distress Syndrome Respiratory Distress Syndrome In Newborn Rds - [Respiratory Distress Syndrome] Of Newborn Newborn Cardiorespiratory Distress Syndrome
Interstitial Lung Disease 2	Idiopathic Pulmonary Fibrosis Ipf Fibrocystic Pulmonary Dysplasia Pulmonary Fibrosis, Idiopathic Pulmonary Fibrosis, Idiopathic, Susceptibility To Cryptogenic Fibrosing Alveolitis ILD2 Idiopathic Pulmonary Fibrosis, Familial Fibrosing Alveolitis, Cryptogenic Uip Fibrosing Alveolitis Interstitial Pneumonitis, Usual Familial Idiopathic Pulmonary Fibrosis Idiopathic Fibrosing Alveolitis, Chronic Form Usual Interstitial Pneumonia Fibrosing Alveolitis Cryptogenic Hamman-Rich Disease Idiopathic Pulmonary Fibrosis Familial Interstitial Pneumonitis Usual Fibrosis Idiopathic Pulmonary Fibrosis, Pulmonary, Idiopathic Hamman-Rich Syndrome Chronic Idiopathic Pulmonary Fibrosis Acute Interstitial Pneumonia Interstitial Pulmonary Fibrosis Ipf - [Idiopathic Pulmonary Fibrosis] Idiopathic Lung Fibrosis Fibrosing Lung Disease Pulmonary Fibrosis Nos Fibrosing Pneumonitis
Respiratory Distress Syndrome In Premature Infants	Hyaline Membrane Disease Infant Respiratory Distress Syndrome Rds Of Prematurity Hyaline Membrane Disease, Formerly Infant Acute Respiratory Distress Syndrome Infant Ards Neonatal Respiratory Distress Syndrome Respiratory Distress Syndrome, Infant RDS Rds In Prematurity Respiratory Distress Syndrome, Newborn Rds - Infants
Respiratory Failure	Acute Respiratory Failure Chronic Respiratory Failure Respiratory Insufficiency Acute-On-Chronic Respiratory Failure Respiratory Disease Acute And Chronic Respiratory Failure Respiratory Insufficiency/Failure Chronic Respiratory Disease Pulmonary Valve Insufficiency Chronic Disease Of Respiratory System Respiration Disorders Respiratory Tract Diseases Lung Failure Nos Pulmonary Failure Arf - [Acute Respiratory Failure] Acute Respiratory Insufficiency Acute Pulmonary Insufficiency Acute Respiration Failure Chronic Respiration Failure
Neonatal Respiratory Failure	Respiratory Failure Of Newborn Inadequate Pulmonary Ventilation Of Newborn Newborn Lung Insufficiency Newborn Pulmonary Function Inadequate Newborn Pulmonary Insufficiency Newborn Respiration Failure Newborn Respiratory Insufficiency Respiratory Insufficiency Syndrome Of Newborn
Pulmonary Hypertension, Primary, 1	Pulmonary Arterial Hypertension Pah Idiopathic Pulmonary Arterial Hypertension Idiopathic Pulmonary Hypertension Primary Pulmonary Hypertension PPH1 Pulmonary Hypertension, Primary, Fenfluramine Or Dexfenfluramine-Associated Pulmonary Hypertension, Familial Primary, 1, With Or Without Hht Pph Familial Primary Pulmonary Hypertension Sporadic Primary Pulmonary Hypertension Pht Fpah Familial Pulmonary Arterial Hypertension Hereditary Pulmonary Arterial Hypertension Heritable Pulmonary Arterial Hypertension Ayerza Syndrome Fpph Ppht Ipah Primary Pulmonary Arterial Hypertension Pulmonary Hypertension, Familial Primary Hypertension, Pulmonary, Primary, Type 1 Ayerza'S Syndrome Pah - [Pulmonary Arterial Hypertension] Arrillaga Ayerza Syndrome
Lung Disease	Lung Diseases Disorder Of Lung Abnormality Of The Lung
Interstitial Pneumonitis, Desquamative, Familial	Desquamative Interstitial Pneumonia DIP Pneumonitis, Desquamative Interstitial, Familial Pneumonia, Desquamative Interstitial, Familial Interstitial Lung Disease, Desquamative Ild, Desquamative Familial Desquamative Interstitial Pneumonitis Rbild Respiratory Bronchiolitis-Associated Interstitial Lung Disease Respiratory Bronchiolitis Associated Interstitial Lung Disease
Interstitial Lung Disease	Ild Lung Diseases, Interstitial Lung Diseases Interstitial Interstitial Lung Diseases
Osteogenesis Imperfecta, Type X	Osteogenesis Imperfecta Type 10 OI10 Osteogenesis Imperfecta Type X Oi, Type X Osteogenesis Imperfecta 10 Oi Type X Oi-X
Pulmonary Hemosiderosis	Idiopathic Pulmonary Hemosiderosis Alveolar Hypoventilation Syndrome Brown Induration Brown Lung Siderosis Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin Byssinosis
Pseudoxanthoma Elasticum	PXE Gronblad-Strandberg Syndrome Pseudoxanthoma Elasticum, Modifier Of Severity Of Gronblad-Strandberg-Touraine Syndrome Gronblad Strandberg Syndrome Groenblad-Strandberg Syndrome Nevus Elasticus Pxe - [Pseudoxanthoma Elasticum]
Diffuse Pulmonary Fibrosis
Pulmonary Alveolar Microlithiasis	PULAM Pam
Nonspecific Interstitial Pneumonia	Nsip Non-Specific Interstitial Pneumonia Non-Specific Idiopathic Interstitial Pneumonia Non-Specific Interstitial Pneumonia Nos
Pulmonary Interstitial Emphysema
Pulmonary Immaturity	Primary Atelectasis Of Newborn Primary Atelectasis, In Perinatal Period Primary Failure To Expand Terminal Respiratory Units Immature Lungs Primary Atelectasis Pulmonary Immaturity Nos Lung Lobe Hypoplasia, Associated With Short Gestation Lung Nonexpansion Premature Lungs Pulmonary Hypoplasia Associated With Short Gestation Failure Of Expansion Of Terminal Respiratory Units Primary Atelectasis Of Fetus Or Newborn Primary Atelectasis In Perinatal Period
Chronic Congestive Splenomegaly
Idiopathic Interstitial Pneumonia	Hamman-Rich Syndrome Diffuse Idiopathic Pulmonary Fibrosis Idiopathic Fibrosing Alveolitis Ipf Idiopathic Interstitial Pneumonias Idiopathic Interstitial Pneumonia, Not Otherwise Specified Pulmonary Fibrosis
Lipid Pneumonia	Exogenous Lipoid Pneumonia Lipoid Pneumonitis Pneumonia, Lipid Pneumonia Lipid Lipoid Pneumonia
Lysinuric Protein Intolerance	LPI Dibasic Amino Aciduria Ii Hyperdibasic Aminoaciduria Dibasic Aminoaciduria 2 Dibasicamino Aciduria Ii Congenital Lysinuria Lpi - Lysinuric Protein Intolerance
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Child Syndrome Ichthyosiform Erythroderma, Unilateral, With Ipsilateral Malformations, Especially Absence Deformity Of Limbs Child Nevus Congenital Hemidysplasia With Ichthyosiform Nevus And Limbs Defects Congenital Hemidysplasia With Ichthyosiform Nevus And Limb Defects Ichthyosis, Child Syndrome Child Syndrome Ichthyosis CHILD
Meconium Aspiration Syndrome	Neonatal Aspiration Of Meconium Meconium Aspiration Mas Meconium Aspiration Syndrome Of Newborn Meconium Inhalation Mas - [Meconium Aspiration Syndrome] Meconium Aspiration Nos Meconium Aspiration Syndrome Nos Meconium Pneumonitis Meconium Stained Liqueur Aspiration
Ichthyosis, Congenital, Autosomal Recessive 4b	Harlequin Ichthyosis Autosomal Recessive Congenital Ichthyosis 4b Hi Harlequin Fetus ARCI4B Ichthyosis Congenita, Harlequin Fetus Type Harlequin Type Ichthyosis 'Harlequin Fetus' Harlequin Type Ichthyosis Congenita Harlequin Type Ichthyosis Fetalis Harlequin Baby Syndrome Ichthyosis Congenita, Harlequin Type Ichthyosis Fetalis, Harlequin Type Ichthyosis Congenita Harlequin Fetus Type Ichthyosis, Harlequin Ichthyosis, Congenital, Autosomal Recessive, Type 4b
Ichthyosis	Ichthyoses Non-Syndromic Ichthyosis Congenital Ichthyosis
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
Autosomal Recessive Congenital Ichthyosis	Lamellar Ichthyosis Congenital Ichthyosiform Erythroderma Li Congenital Nonbullous Ichthyosiform Erythroderma Arci Congenital Lamellar Ichthyosis Nonbullous Congenital Ichthyosiform Erythroderma Cie Congenital Non-Bullous Ichthyosiform Erythroderma Erythrodermic Ichthyosis Nbcie Ncie Non-Bullous Congenital Ichthyosiform Erythroderma Collodion Baby Ichthyosis, Lamellar Non Bullous Congenital Ichthyosiform Erythroderma Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form Ichthyosiform Erythroderma, Congenital, Nonbullous, 1 Collodion Baby Syndrome Ichthyoses, Lamellar Nbie Nonbullous Ichthyosiform Erythroderma Classic Lamellar Ichthyosis Ichthyosiform Erythroderma Nonbullous Congenital Ichthyosiform Erythroderma Congenital Ichthyosis, Congenital, Autosomal Recessive Ichthyosiform Erythroderma, Congenital Collodion Fetus Non-Bullous Ichthyosiform Erythroderma
Hermansky-Pudlak Syndrome	Hps Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells Hermanski-Pudlak Syndrome Hermansky Pudlak Syndrome Platelet Storage Pool Deficiency
Diaphragmatic Hernia, Congenital	Congenital Diaphragmatic Hernia Diaphragmatic Hernia Cdh Congenital Diaphragmatic Defect Hernia, Diaphragmatic Dih Hernia, Congenital Diaphragmatic Hcd Diaphragmatic Defect, Congenital Diaphragm, Unilateral Agenesis Of Hemidiaphragm, Agenesis Of Diaphragmatic Hernia 1 Agenesis Of Hemidiaphragm Unilateral Agenesis Of Diaphragm Hernia Diaphragmatic Hernia Diaphragmatic Congenital Hernia, Diaphragmatic, Type 1 Hiatus Hernia Oesophageal Hiatus Hernia Paraoesophageal Hernia Sliding Hiatus Hernia Congenital Diaphragm Hernia Congenital Diaphragm Defect With Hernia Gross Congenital Diaphragm Defect
Primary Ciliary Dyskinesia	Immotile Cilia Syndrome Kartagener Syndrome Dextrocardia Bronchiectasis And Sinusitis Pcd Ciliary Motility Disorders Ciliary Motility Disorder Immotile Ciliary Syndrome Ciliary Dyskinesia Primary Ics Polynesian Bronchiectasis Dextrocardia-Bronchiectasis-Sinusitis Syndrome Immotile Cilia Syndrome, Kartagener Type Primary Ciliary Dyskinesia And Situs Inversus Primary Ciliary Dyskinesia, Kartagener Type Siewert Syndrome Dyskinesia, Ciliary, Primary

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-RS00041	ABCA3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20843	Abca3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27357	Abca3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	ABCA3	VGNC	VGNC:59464
Mus musculus	ABCA3	MGD	MGI:1351617
Canis familiaris	ABCA3	VGNC	VGNC:37426
Macaca mulatta	ABCA3	VGNC	VGNC:69559
Rattus norvegicus	ABCA3	RGD	RGD:1307174
Bos taurus	ABCA3	VGNC	VGNC:50168
Others	ABCA3	NCBI