Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
7.6.2.1
Translocases;
Catalysing the translocation of other compounds;
Linked to the hydrolysis of a nucleoside triphosphate;
P-type phospholipid transporter
7.6.2.2
Translocases;
Catalysing the translocation of other compounds;
Linked to the hydrolysis of a nucleoside triphosphate;
ABC-type xenobiotic transporter
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0006869 | lipid transport |
| Biological Process | GO:0030324 | lung development |
| Biological Process | GO:0070925 | organelle assembly |
| Biological Process | GO:0046470 | phosphatidylcholine metabolic process |
| Biological Process | GO:0046471 | phosphatidylglycerol metabolic process |
| Biological Process | GO:0055091 | phospholipid homeostasis |
| Biological Process | GO:0015914 | phospholipid transport |
| Biological Process | GO:0010875 | positive regulation of cholesterol efflux |
| Biological Process | GO:1902995 | positive regulation of phospholipid efflux |
| Biological Process | GO:2001140 | positive regulation of phospholipid transport |
| Biological Process | GO:0032464 | positive regulation of protein homooligomerization |
| Biological Process | GO:0019538 | protein metabolic process |
| Biological Process | GO:0046890 | regulation of lipid biosynthetic process |
| Biological Process | GO:0150172 | regulation of phosphatidylcholine metabolic process |
| Biological Process | GO:0051384 | response to glucocorticoid |
| Biological Process | GO:0009410 | response to xenobiotic stimulus |
| Biological Process | GO:0043129 | surfactant homeostasis |
| Biological Process | GO:0046618 | xenobiotic export from cell |
| Biological Process | GO:0006855 | xenobiotic transmembrane transport |
| Biological Process | GO:0042908 | xenobiotic transport |
| Molecular Function | GO:0008559 | ABC-type xenobiotic transporter activity |
| Molecular Function | GO:0005524 | ATP binding |
| Molecular Function | GO:0016887 | ATP hydrolysis activity |
| Molecular Function | GO:0042626 | ATPase-coupled transmembrane transporter activity |
| Molecular Function | GO:0005319 | lipid transporter activity |
| Molecular Function | GO:0140345 | phosphatidylcholine flippase activity |
| Molecular Function | GO:0120019 | phosphatidylcholine transfer activity |
| Cellular Component | GO:0097208 | alveolar lamellar body |
| Cellular Component | GO:0097233 | alveolar lamellar body membrane |
| Cellular Component | GO:0030659 | cytoplasmic vesicle membrane |
| Cellular Component | GO:0005615 | extracellular space |
| Cellular Component | GO:0043231 | intracellular membrane-bounded organelle |
| Cellular Component | GO:0042599 | lamellar body |
| Cellular Component | GO:0097232 | lamellar body membrane |
| Cellular Component | GO:0005770 | late endosome |
| Cellular Component | GO:0005765 | lysosomal membrane |
| Cellular Component | GO:0032585 | multivesicular body membrane |
| Cellular Component | GO:0005886 | plasma membrane |
| InterPro
|
InterPro name |
|---|---|
| IPR003439 | ABC transporter-like, ATP-binding domain |
| IPR003593 | AAA+ ATPase domain |
| IPR017871 | ABC transporter-like, conserved site |
| IPR026082 | ABC transporter A |
| IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
| Pfam
|
Pfam name |
|---|---|
| PF00005 | ABC transporter |
| PF12698 | ABC-2 family transporter protein |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-1369062 | ABC transporters in lipid homeostasis | Leaf | R-HSA-382551 | Transport of small molecules |
| R-HSA-5683678 | Defective ABCA3 causes SMDP3 | Leaf | R-HSA-1643685 | Disease |
| R-HSA-5683826 | Surfactant metabolism | Leaf | R-HSA-392499 | Metabolism of proteins |
| R-HSA-5688399 | Defective ABCA3 causes SMDP3 | Leaf | R-HSA-1643685 | Disease |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Cytoplasmic vesicle membrane | ECO:0000269 | PubMed:16959783 |
| Cytoplasmic vesicle membrane | ECO:0000269 | PubMed:17574245 |
| Cytoplasmic vesicle membrane | ECO:0000269 | PubMed:20863830 |
| Cytoplasmic vesicle membrane | ECO:0000269 | PubMed:22673903 |
| Cytoplasmic vesicle membrane | ECO:0000269 | PubMed:27177387 |
| Cytoplasmic vesicle membrane | ECO:0000269 | PubMed:31473345 |
| Endosome, multivesicular body membrane | ECO:0000269 | PubMed:16959783 |
| Endosome, multivesicular body membrane | ECO:0000269 | PubMed:20863830 |
| Endosome, multivesicular body membrane | ECO:0000269 | PubMed:27177387 |
| Late endosome membrane | ECO:0000269 | PubMed:27177387 |
| Lysosome membrane | ECO:0000269 | PubMed:16959783 |
| Lysosome membrane | ECO:0000269 | PubMed:17574245 |
| Lysosome membrane | ECO:0000269 | PubMed:20863830 |
| Lysosome membrane | ECO:0000269 | PubMed:24142515 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000765 | Abnormal thorax morphology |
| HP:0000961 | Cyanosis |
| HP:0001217 | Clubbing |
| HP:0001508 | Failure to thrive |
| HP:0001522 | Death in infancy |
| HP:0001622 | Premature birth |
| HP:0001649 | Tachycardia |
| HP:0001662 | Bradycardia |
| HP:0001695 | Cardiac arrest |
| HP:0002020 | Gastroesophageal reflux |
| HP:0002090 | Pneumonia |
| HP:0002094 | Dyspnea |
| HP:0002098 | Respiratory distress |
| HP:0002104 | Apnea |
| HP:0002110 | Bronchiectasis |
| HP:0002206 | Pulmonary fibrosis |
| HP:0002615 | Hypotension |
| HP:0002643 | Neonatal respiratory distress |
| HP:0002789 | Tachypnea |
| HP:0002875 | Exertional dyspnea |
| HP:0002878 | Respiratory failure |
| HP:0003577 | Congenital onset |
| HP:0003811 | Neonatal death |
| HP:0005942 | Desquamative interstitial pneumonitis |
| HP:0006517 | Intraalveolar phospholipid accumulation |
| HP:0006530 | Abnormal pulmonary interstitial morphology |
| HP:0010444 | Pulmonary insufficiency |
| HP:0011947 | Respiratory tract infection |
| HP:0012418 | Hypoxemia |
| HP:0012735 | Cough |
| HP:0025175 | Honeycomb lung |
| HP:0025179 | Ground-glass opacification |
| HP:0025390 | Reticular pattern on pulmonary HRCT |
| HP:0025391 | Crazy paving pattern |
| HP:0025392 | Nodular pattern on pulmonary HRCT |
| HP:0025394 | Cystic pattern on pulmonary HRCT |
| HP:0030830 | Crackles |
| HP:0030863 | Nasal flaring |
| HP:0031950 | Usual interstitial pneumonia |
| HP:0032980 | Absent bronchoalveolar surfactant-protein C |
| HP:0033542 | Bronchial wall thickening |
| HP:0033584 | Nonspecific interstitial pneumonia |
| HP:0033649 | Paraseptal emphysema |
| HP:0100598 | Pulmonary edema |
| HP:0100750 | Atelectasis |
| HP:0100759 | Clubbing of fingers |
| HP:0100806 | Sepsis |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adipose tissue | adipocytes | Medium | Enhanced |
| adrenal gland | glandular cells | High | Enhanced |
| appendix | glandular cells | Medium | Enhanced |
| appendix | lymphoid tissue | Medium | Enhanced |
| bone marrow | hematopoietic cells | Medium | Enhanced |
| breast | glandular cells | Medium | Enhanced |
| breast | myoepithelial cells | Low | Enhanced |
| bronchus | basal cells | Low | Enhanced |
| bronchus | ciliated cells (cell body) | Medium | Enhanced |
| caudate | glial cells | Low | Enhanced |
| caudate | neuronal cells | Medium | Enhanced |
| cerebellum | Purkinje cells | High | Enhanced |
| cerebellum | cells in granular layer | Low | Enhanced |
| cerebellum | cells in molecular layer | High | Enhanced |
| cerebral cortex | endothelial cells | Low | Enhanced |
| cerebral cortex | neuronal cells | High | Enhanced |
| cervix | glandular cells | Medium | Enhanced |
| cervix | squamous epithelial cells | Low | Enhanced |
| colon | endothelial cells | Medium | Enhanced |
| colon | glandular cells | Medium | Enhanced |
| duodenum | glandular cells | Low | Enhanced |
| endometrium 1 | cells in endometrial stroma | Medium | Enhanced |
| endometrium 1 | glandular cells | Medium | Enhanced |
| endometrium 2 | cells in endometrial stroma | Medium | Enhanced |
| endometrium 2 | glandular cells | Medium | Enhanced |
| epididymis | glandular cells | High | Enhanced |
| esophagus | squamous epithelial cells | Medium | Enhanced |
| fallopian tube | ciliated cells (cell body) | High | Enhanced |
| fallopian tube | ciliated cells (ciliary rootlets) | Low | Enhanced |
| fallopian tube | non-ciliated cells | High | Enhanced |
| gallbladder | glandular cells | Medium | Enhanced |
| heart muscle | cardiomyocytes | Medium | Enhanced |
| hippocampus | glial cells | Low | Enhanced |
| hippocampus | neuronal cells | Medium | Enhanced |
| kidney | bowman's capsule | Medium | Enhanced |
| kidney | cells in glomeruli | Low | Enhanced |
| kidney | distal tubules | Medium | Enhanced |
| kidney | proximal tubules (cell body) | Medium | Enhanced |
| liver | cholangiocytes | Low | Enhanced |
| liver | hepatocytes | Medium | Enhanced |
| lung | alveolar cells | High | Enhanced |
| lung | macrophages | Medium | Enhanced |
| lymph node | germinal center cells | Medium | Enhanced |
| lymph node | non-germinal center cells | Medium | Enhanced |
| nasopharynx | ciliated cells (cell body) | High | Enhanced |
| nasopharynx | goblet cells | High | Enhanced |
| oral mucosa | squamous epithelial cells | Low | Enhanced |
| pancreas | exocrine glandular cells | Medium | Enhanced |
| parathyroid gland | glandular cells | Low | Enhanced |
| placenta | decidual cells | Medium | Enhanced |
| placenta | trophoblastic cells | Medium | Enhanced |
| prostate | glandular cells | High | Enhanced |
| rectum | glandular cells | Medium | Enhanced |
| salivary gland | glandular cells | Medium | Enhanced |
| seminal vesicle | glandular cells | High | Enhanced |
| skeletal muscle | myocytes | Medium | Enhanced |
| skin 1 | Langerhans | Low | Enhanced |
| skin 1 | fibroblasts | Medium | Enhanced |
| skin 1 | keratinocytes | Low | Enhanced |
| skin 1 | melanocytes | Low | Enhanced |
| skin 2 | epidermal cells | Low | Enhanced |
| small intestine | glandular cells | Low | Enhanced |
| soft tissue 1 | chondrocytes | Medium | Enhanced |
| soft tissue 1 | fibroblasts | Low | Enhanced |
| soft tissue 1 | peripheral nerve | Medium | Enhanced |
| soft tissue 2 | peripheral nerve | Medium | Enhanced |
| spleen | cells in red pulp | Medium | Enhanced |
| spleen | cells in white pulp | High | Enhanced |
| stomach 1 | glandular cells | Low | Enhanced |
| stomach 2 | glandular cells | Low | Enhanced |
| testis | preleptotene spermatocytes | Low | Enhanced |
| testis | round or early spermatids | Low | Enhanced |
| thyroid gland | glandular cells | High | Enhanced |
| tonsil | germinal center cells | Medium | Enhanced |
| tonsil | non-germinal center cells | Medium | Enhanced |
| tonsil | squamous epithelial cells | Medium | Enhanced |
| urinary bladder | urothelial cells | Medium | Enhanced |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| interstitial lung disease due to abca3 deficiency | MONDO:0012582 | J84 | chapter10, Diseases of the respiratory system | OMIM:610921 | Orphanet:440402 |
| obsolete primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies | MONDO:0015052 | - | - | Orphanet:100049 | |
| pulmonary arterial hypertension | MONDO:0015924 | I27 | chapter9, Diseases of the circulatory system | Orphanet:182090 |