Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
7.6.2.-
Translocases;
Catalysing the translocation of other compounds;
Linked to the hydrolysis of a nucleoside triphosphate;
7.6.2.3
Translocases;
Catalysing the translocation of other compounds;
Linked to the hydrolysis of a nucleoside triphosphate;
ABC-type glutathione-S-conjugate transporter
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0046034 | ATP metabolic process |
| Biological Process | GO:0015867 | ATP transport |
| Biological Process | GO:0055074 | calcium ion homeostasis |
| Biological Process | GO:0010467 | gene expression |
| Biological Process | GO:0140928 | inhibition of non-skeletal tissue mineralization |
| Biological Process | GO:0030505 | inorganic diphosphate transport |
| Biological Process | GO:0030643 | intracellular phosphate ion homeostasis |
| Biological Process | GO:0071716 | leukotriene transport |
| Biological Process | GO:0055062 | phosphate ion homeostasis |
| Biological Process | GO:0032026 | response to magnesium ion |
| Biological Process | GO:1904383 | response to sodium phosphate |
| Biological Process | GO:0009410 | response to xenobiotic stimulus |
| Biological Process | GO:0055085 | transmembrane transport |
| Biological Process | GO:0007601 | visual perception |
| Molecular Function | GO:0015431 | ABC-type glutathione S-conjugate transporter activity |
| Molecular Function | GO:0005524 | ATP binding |
| Molecular Function | GO:0016887 | ATP hydrolysis activity |
| Molecular Function | GO:0043225 | ATPase-coupled inorganic anion transmembrane transporter activity |
| Molecular Function | GO:0042626 | ATPase-coupled transmembrane transporter activity |
| Cellular Component | GO:0009925 | basal plasma membrane |
| Cellular Component | GO:0016323 | basolateral plasma membrane |
| Cellular Component | GO:0005789 | endoplasmic reticulum membrane |
| Cellular Component | GO:0005576 | extracellular region |
| Cellular Component | GO:0016020 | membrane |
| Cellular Component | GO:0005654 | nucleoplasm |
| Cellular Component | GO:0005886 | plasma membrane |
| InterPro
|
InterPro name |
|---|---|
| IPR003439 | ABC transporter-like, ATP-binding domain |
| IPR003593 | AAA+ ATPase domain |
| IPR005292 | Multi drug resistance-associated protein |
| IPR011527 | ABC transporter type 1, transmembrane domain |
| IPR017871 | ABC transporter-like, conserved site |
| IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
| IPR036640 | ABC transporter type 1, transmembrane domain superfamily |
| Pfam
|
Pfam name |
|---|---|
| PF00005 | ABC transporter |
| PF00664 | ABC transporter transmembrane region |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-382556 | ABC-family proteins mediated transport | Internal node | R-HSA-382551 | Transport of small molecules |
| R-HSA-5690338 | Defective ABCC6 causes PXE | Leaf | R-HSA-1643685 | Disease |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Basal cell membrane | ECO:0000269 | PubMed:35307651 |
| Basolateral cell membrane | ECO:0000269 | PubMed:12901863 |
| Basolateral cell membrane | ECO:0000269 | PubMed:23625951 |
| Endoplasmic reticulum membrane | ECO:0000269 | PubMed:23912081 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000121 | Nephrocalcinosis |
| HP:0000218 | High palate |
| HP:0000365 | Hearing impairment |
| HP:0000381 | Stapes ankylosis |
| HP:0000405 | Conductive hearing impairment |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000410 | Mixed hearing impairment |
| HP:0000474 | Thickened nuchal skin fold |
| HP:0000488 | Retinopathy |
| HP:0000505 | Visual impairment |
| HP:0000545 | Myopia |
| HP:0000573 | Retinal hemorrhage |
| HP:0000592 | Blue sclerae |
| HP:0000608 | Macular degeneration |
| HP:0000630 | Abnormal retinal artery morphology |
| HP:0000737 | Irritability |
| HP:0000765 | Abnormal thorax morphology |
| HP:0000766 | Abnormal sternum morphology |
| HP:0000821 | Hypothyroidism |
| HP:0000822 | Hypertension |
| HP:0000951 | Abnormality of the skin |
| HP:0000961 | Cyanosis |
| HP:0000969 | Edema |
| HP:0000973 | Cutis laxa |
| HP:0000974 | Hyperextensible skin |
| HP:0000978 | Bruising susceptibility |
| HP:0000988 | Skin rash |
| HP:0000989 | Pruritus |
| HP:0001012 | Multiple lipomas |
| HP:0001061 | Acne |
| HP:0001065 | Striae distensae |
| HP:0001102 | Angioid streaks of the fundus |
| HP:0001250 | Seizure |
| HP:0001297 | Stroke |
| HP:0001342 | Cerebral hemorrhage |
| HP:0001384 | Abnormal hip joint morphology |
| HP:0001482 | Subcutaneous nodule |
| HP:0001531 | Failure to thrive in infancy |
| HP:0001541 | Ascites |
| HP:0001561 | Polyhydramnios |
| HP:0001634 | Mitral valve prolapse |
| HP:0001635 | Congestive heart failure |
| HP:0001640 | Cardiomegaly |
| HP:0001645 | Sudden cardiac death |
| HP:0001653 | Mitral regurgitation |
| HP:0001658 | Myocardial infarction |
| HP:0001677 | Coronary artery atherosclerosis |
| HP:0001681 | Angina pectoris |
| HP:0001698 | Pericardial effusion |
| HP:0001714 | Ventricular hypertrophy |
| HP:0001717 | Coronary artery calcification |
| HP:0001718 | Mitral stenosis |
| HP:0001723 | Restrictive cardiomyopathy |
| HP:0001789 | Hydrops fetalis |
| HP:0001872 | Abnormality of thrombocytes |
| HP:0001945 | Fever |
| HP:0002013 | Vomiting |
| HP:0002092 | Pulmonary arterial hypertension |
| HP:0002098 | Respiratory distress |
| HP:0002172 | Postural instability |
| HP:0002239 | Gastrointestinal hemorrhage |
| HP:0002326 | Transient ischemic attack |
| HP:0002514 | Cerebral calcification |
| HP:0002617 | Vascular dilatation |
| HP:0002621 | Atherosclerosis |
| HP:0002634 | Arteriosclerosis |
| HP:0002647 | Aortic dissection |
| HP:0002650 | Scoliosis |
| HP:0002705 | High, narrow palate |
| HP:0002749 | Osteomalacia |
| HP:0002808 | Kyphosis |
| HP:0002815 | Abnormality of the knee |
| HP:0002829 | Arthralgia |
| HP:0002949 | Fused cervical vertebrae |
| HP:0003109 | Hyperphosphaturia |
| HP:0003207 | Arterial calcification |
| HP:0003593 | Infantile onset |
| HP:0003836 | Stippled calcification of the shoulder |
| HP:0003941 | Stippled calcification of the elbow |
| HP:0004306 | Abnormal endocardium morphology |
| HP:0004374 | Hemiplegia/hemiparesis |
| HP:0004417 | Intermittent claudication |
| HP:0004912 | Hypophosphatemic rickets |
| HP:0004943 | Accelerated atherosclerosis |
| HP:0004963 | Calcification of the aorta |
| HP:0004966 | Medial calcification of large arteries |
| HP:0005103 | Calcification of the auricular cartilage |
| HP:0005180 | Tricuspid regurgitation |
| HP:0005213 | Pancreatic calcification |
| HP:0005297 | Premature occlusive vascular stenosis |
| HP:0005462 | Calcification of falx cerebri |
| HP:0005692 | Joint hyperflexibility |
| HP:0006559 | Hepatic calcification |
| HP:0006690 | Myocardial calcification |
| HP:0007392 | Excessive wrinkled skin |
| HP:0007663 | Reduced visual acuity |
| HP:0009164 | Abnormal calcification of the carpal bones |
| HP:0010512 | Adrenal calcification |
| HP:0010639 | Elevated alkaline phosphatase of bone origin |
| HP:0010766 | Ectopic calcification |
| HP:0011344 | Severe global developmental delay |
| HP:0011506 | Choroidal neovascularization |
| HP:0011703 | Sinus tachycardia |
| HP:0011968 | Feeding difficulties |
| HP:0012408 | Medullary nephrocalcinosis |
| HP:0012409 | Cortical nephrocalcinosis |
| HP:0012426 | Optic disc drusen |
| HP:0012457 | Medial calcification of medium-sized arteries |
| HP:0012508 | Metamorphopsia |
| HP:0012664 | Reduced left ventricular ejection fraction |
| HP:0025115 | Civatte bodies |
| HP:0025116 | Fetal distress |
| HP:0025169 | Left ventricular systolic dysfunction |
| HP:0025477 | Periarticular calcification |
| HP:0025507 | Yellow papule |
| HP:0025533 | Peau d'orange |
| HP:0030149 | Cardiogenic shock |
| HP:0030680 | Abnormality of cardiovascular system morphology |
| HP:0030718 | Right atrial enlargement |
| HP:0032553 | Weak pulse |
| HP:0033026 | White oral mucosal macule |
| HP:0033027 | Retinal peau d'orange |
| HP:0040197 | Encephalomalacia |
| HP:0045051 | Decreased DLCO |
| HP:0100545 | Arterial stenosis |
| HP:0100585 | Telangiectasia of the skin |
| HP:0100659 | Abnormal cerebral vascular morphology |
| HP:0100679 | Lack of skin elasticity |
| HP:0100758 | Gangrene |
| HP:0100817 | Renovascular hypertension |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| pseudoxanthoma elasticum- forme fruste | MONDO:0008333 | Q82 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:177850 | |
| autosomal recessive inherited pseudoxanthoma elasticum | MONDO:0009925 | Q82 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:264800 | Orphanet:758 |
| arterial calcification, generalized, of infancy, 2 | MONDO:0013768 | Q28 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:614473 |