1. Gene
  2. ABCA3 - ATP binding cassette subfamily A member 3 Gene

ABCA3 - ATP binding cassette subfamily A member 3 Gene

中文名称:ATP 结合盒亚家族 A 成员 3

种属: Homo sapiens

同用名: ABC3; ABC-C; SMDP3; LBM180; EST111653

基因 ID: 21 | 基因类型: protein coding

关于 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.

功能概要

由该基因编码的膜相关蛋白是 ATP 结合盒 (ABC) 转运蛋白超家族的成员。 ABC 蛋白可跨细胞外膜和细胞内膜转运各种分子。 ABC 基因分为七个不同的亚家族 (ABC1、MDR/TAP、MRP、ALD、OABP、GCN20、White) 。这种蛋白质是 ABC1 亚家族的成员。 ABC1 亚科的成员包括仅在多细胞真核生物中发现的唯一主要 ABC 亚科。由该基因编码的完整转运蛋白可能参与程序性细胞死亡过程中对异生素的抗性和吞噬的发展。[RefSeq 提供,2008 年 7 月]

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 基因产物(1)

mRNA Protein Name
NM_001089.3 NP_001080.2 phospholipid-transporting ATPase ABCA3
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables ABC-type xenobiotic transporter activity IMP
IMP: 通过突变表型推断
26903515 GOA
enables ATP hydrolysis activity IDA
IDA: 通过直接分析推断
16959783 GOA
enables phosphatidylcholine flippase activity IMP
IMP: 通过突变表型推断
27177387 GOA
enables phosphatidylcholine transfer activity IMP
IMP: 通过突变表型推断
28887056 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in phosphatidylcholine metabolic process IMP
IMP: 通过突变表型推断
17574245 GOA
involved in phospholipid transport IMP
IMP: 通过突变表型推断
28887056 GOA
involved in positive regulation of cholesterol efflux IMP
IMP: 通过突变表型推断
25817392 GOA
involved in positive regulation of phospholipid efflux IMP
IMP: 通过突变表型推断
31473345 GOA
involved in positive regulation of phospholipid transport IMP
IMP: 通过突变表型推断
27177387 GOA
involved in positive regulation of protein homooligomerization IDA
IDA: 通过直接分析推断
27352740 GOA
involved in regulation of phosphatidylcholine metabolic process IMP
IMP: 通过突变表型推断
25817392 GOA
involved in xenobiotic export from cell IMP
IMP: 通过突变表型推断
26903515 GOA
involved in xenobiotic transmembrane transport IMP
IMP: 通过突变表型推断
26903515 GOA
involved in xenobiotic transport IMP
IMP: 通过突变表型推断
26903515 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in alveolar lamellar body IDA
IDA: 通过直接分析推断
11718719 GOA
located in alveolar lamellar body membrane IDA
IDA: 通过直接分析推断
11940594 GOA
located in cytoplasmic vesicle membrane IDA
IDA: 通过直接分析推断
16959783 GOA
located in lamellar body IDA
IDA: 通过直接分析推断
27177387 GOA
located in lamellar body membrane IDA
IDA: 通过直接分析推断
20863830 GOA
located in late endosome IDA
IDA: 通过直接分析推断
27177387 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
11718719 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

ABCA3 蛋白结构

ABC2_membrane_3

ABC2_membrane_3: ABC-2 family transporter protein (233 - 469)

ABC_tran

ABC_tran: ABC transporter (550 - 693)

ABC2_membrane_3

ABC2_membrane_3: ABC-2 family transporter protein (924 - 1322)

ABC_tran

ABC_tran: ABC transporter (1400 - 1542)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1704 a.a.
蛋白主名 其他名称

phospholipid-transporting ATPase ABCA3

ABC transporter 3

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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