ABCA3 - ENSG00000167972

Details for: ABCA3

Gene ID: 21

Symbol: ABCA3

Ensembl ID: ENSG00000167972

Description: ATP binding cassette subfamily A member 3

Associated with

Abc-family proteins mediated transport (R-HSA-382556)
Abc transporter disorders (R-HSA-5619084)
Abc transporters in lipid homeostasis (R-HSA-1369062)
Defective abca3 causes smdp3 (R-HSA-5688399)
Disease (R-HSA-1643685)
Diseases associated with surfactant metabolism (R-HSA-5687613)
Diseases of metabolism (R-HSA-5668914)
Disorders of transmembrane transporters (R-HSA-5619115)
Metabolism of proteins (R-HSA-392499)
Surfactant metabolism (R-HSA-5683826)
Transport of small molecules (R-HSA-382551)
Abc-type xenobiotic transporter activity (GO:0008559)
Alveolar lamellar body (GO:0097208)
Alveolar lamellar body membrane (GO:0097233)
Atpase-coupled transmembrane transporter activity (GO:0042626)
Atp binding (GO:0005524)
Atp hydrolysis activity (GO:0016887)
Cytoplasmic vesicle membrane (GO:0030659)
Extracellular space (GO:0005615)
Intermembrane lipid transfer (GO:0120009)
Intracellular membrane-bounded organelle (GO:0043231)
Lamellar body (GO:0042599)
Lamellar body membrane (GO:0097232)
Late endosome (GO:0005770)
Lipid translocation (GO:0034204)
Lipid transport (GO:0006869)
Lipid transporter activity (GO:0005319)
Lung development (GO:0030324)
Lysosomal membrane (GO:0005765)
Multivesicular body membrane (GO:0032585)
Organelle assembly (GO:0070925)
Phosphatidylcholine flippase activity (GO:0140345)
Phosphatidylcholine metabolic process (GO:0046470)
Phosphatidylcholine transfer activity (GO:0120019)
Phosphatidylglycerol metabolic process (GO:0046471)
Phospholipid homeostasis (GO:0055091)
Phospholipid transport (GO:0015914)
Plasma membrane (GO:0005886)
Positive regulation of cholesterol efflux (GO:0010875)
Positive regulation of phospholipid efflux (GO:1902995)
Positive regulation of phospholipid transport (GO:2001140)
Positive regulation of protein homooligomerization (GO:0032464)
Protein metabolic process (GO:0019538)
Regulation of lipid biosynthetic process (GO:0046890)
Regulation of phosphatidylcholine metabolic process (GO:0150172)
Response to glucocorticoid (GO:0051384)
Response to xenobiotic stimulus (GO:0009410)
Surfactant homeostasis (GO:0043129)
Xenobiotic export from cell (GO:0046618)
Xenobiotic transmembrane transport (GO:0006855)
Xenobiotic transport (GO:0042908)

Cells (max top 100)

Cell Name: type II pneumocyte (CL0002063)
Fold Change: 3.18
Marker Score: 20698
Cell Name: pneumocyte (CL0000322)
Fold Change: 2.86
Marker Score: 4599
Cell Name: lactocyte (CL0002325)
Fold Change: 2.58
Marker Score: 41348
Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
Fold Change: 1.91
Marker Score: 17937
Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
Fold Change: 1.87
Marker Score: 69036
Cell Name: neuron (CL0000540)
Fold Change: 1.84
Marker Score: 7492.5
Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 1.79
Marker Score: 109781
Cell Name: inhibitory interneuron (CL0000498)
Fold Change: 1.78
Marker Score: 8213
Cell Name: dopaminergic neuron (CL0000700)
Fold Change: 1.77
Marker Score: 18328
Cell Name: sst GABAergic cortical interneuron (CL4023017)
Fold Change: 1.75
Marker Score: 34847.5
Cell Name: Purkinje cell (CL0000121)
Fold Change: 1.74
Marker Score: 58854.5
Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: 1.72
Marker Score: 16377
Cell Name: vip GABAergic cortical interneuron (CL4023016)
Fold Change: 1.72
Marker Score: 65455
Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
Fold Change: 1.72
Marker Score: 25756
Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
Fold Change: 1.69
Marker Score: 6993.5
Cell Name: sncg GABAergic cortical interneuron (CL4023015)
Fold Change: 1.68
Marker Score: 12875
Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: 1.65
Marker Score: 14205
Cell Name: OFF retinal ganglion cell (CL4023033)
Fold Change: 1.64
Marker Score: 685
Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 1.63
Marker Score: 6319
Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: 1.49
Marker Score: 2297
Cell Name: mural cell (CL0008034)
Fold Change: 1.47
Marker Score: 169018
Cell Name: pyramidal neuron (CL0000598)
Fold Change: 1.45
Marker Score: 2431
Cell Name: astrocyte of the cerebral cortex (CL0002605)
Fold Change: 1.31
Marker Score: 27986
Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
Fold Change: 1.26
Marker Score: 6586
Cell Name: ON retinal ganglion cell (CL4023032)
Fold Change: 1.25
Marker Score: 342
Cell Name: chromaffin cell (CL0000166)
Fold Change: 1.25
Marker Score: 1761
Cell Name: colon goblet cell (CL0009039)
Fold Change: 1.24
Marker Score: 898.5
Cell Name: stellate neuron (CL0000122)
Fold Change: 1.23
Marker Score: 6591
Cell Name: epithelial cell of alveolus of lung (CL0010003)
Fold Change: 1.18
Marker Score: 528
Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 1.14
Marker Score: 4800
Cell Name: cerebral cortex neuron (CL0010012)
Fold Change: 1.11
Marker Score: 3158
Cell Name: granule cell (CL0000120)
Fold Change: 1.1
Marker Score: 8325
Cell Name: granulocyte monocyte progenitor cell (CL0000557)
Fold Change: 1.07
Marker Score: 681
Cell Name: immature innate lymphoid cell (CL0001082)
Fold Change: 1.06
Marker Score: 2161
Cell Name: macroglial cell (CL0000126)
Fold Change: 1.03
Marker Score: 2357
Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
Fold Change: 1
Marker Score: 71807
Cell Name: forebrain radial glial cell (CL0013000)
Fold Change: 1
Marker Score: 48032
Cell Name: mature astrocyte (CL0002627)
Fold Change: 1
Marker Score: 655
Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: 0.98
Marker Score: 666
Cell Name: absorptive cell (CL0000212)
Fold Change: 0.98
Marker Score: 30406
Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.97
Marker Score: 502
Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
Fold Change: 0.97
Marker Score: 456
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.95
Marker Score: 2412
Cell Name: epithelial cell of lung (CL0000082)
Fold Change: 0.94
Marker Score: 4915
Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 0.92
Marker Score: 14431
Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.92
Marker Score: 368
Cell Name: transit amplifying cell (CL0009010)
Fold Change: 0.91
Marker Score: 5211
Cell Name: abnormal cell (CL0001061)
Fold Change: 0.91
Marker Score: 2735
Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.89
Marker Score: 320
Cell Name: neuronal brush cell (CL0000555)
Fold Change: 0.88
Marker Score: 2954
Cell Name: type I pneumocyte (CL0002062)
Fold Change: 0.88
Marker Score: 1060
Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.87
Marker Score: 5282
Cell Name: secondary lens fiber (CL0002225)
Fold Change: 0.87
Marker Score: 506
Cell Name: corneal endothelial cell (CL0000132)
Fold Change: 0.85
Marker Score: 493
Cell Name: epithelial cell of lower respiratory tract (CL0002632)
Fold Change: 0.84
Marker Score: 3515.5
Cell Name: A2 amacrine cell (CL0004219)
Fold Change: 0.82
Marker Score: 261
Cell Name: oligodendrocyte (CL0000128)
Fold Change: 0.81
Marker Score: 1948
Cell Name: early T lineage precursor (CL0002425)
Fold Change: 0.8
Marker Score: 608.5
Cell Name: brainstem motor neuron (CL2000047)
Fold Change: 0.79
Marker Score: 457
Cell Name: leptomeningeal cell (CL0000708)
Fold Change: 0.78
Marker Score: 387
Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.77
Marker Score: 1257
Cell Name: brush cell (CL0002204)
Fold Change: 0.77
Marker Score: 702.5
Cell Name: cerebral cortex endothelial cell (CL1001602)
Fold Change: 0.77
Marker Score: 459
Cell Name: Cajal-Retzius cell (CL0000695)
Fold Change: 0.76
Marker Score: 391
Cell Name: GABAergic interneuron (CL0011005)
Fold Change: 0.75
Marker Score: 289
Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: 0.74
Marker Score: 215
Cell Name: endocrine cell (CL0000163)
Fold Change: 0.72
Marker Score: 374
Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
Fold Change: 0.71
Marker Score: 428
Cell Name: vascular leptomeningeal cell (CL4023051)
Fold Change: 0.69
Marker Score: 794
Cell Name: fibroblast of cardiac tissue (CL0002548)
Fold Change: 0.69
Marker Score: 4144
Cell Name: germ cell (CL0000586)
Fold Change: 0.69
Marker Score: 1203
Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: 0.68
Marker Score: 175
Cell Name: cerebellar granule cell precursor (CL0002362)
Fold Change: 0.68
Marker Score: 380
Cell Name: peripheral nervous system neuron (CL2000032)
Fold Change: 0.65
Marker Score: 735
Cell Name: kidney capillary endothelial cell (CL1000892)
Fold Change: 0.64
Marker Score: 200
Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
Fold Change: 0.64
Marker Score: 645
Cell Name: precursor B cell (CL0000817)
Fold Change: 0.63
Marker Score: 415
Cell Name: oligodendrocyte precursor cell (CL0002453)
Fold Change: 0.62
Marker Score: 772
Cell Name: retinal ganglion cell (CL0000740)
Fold Change: 0.61
Marker Score: 763.5
Cell Name: male germ cell (CL0000015)
Fold Change: 0.6
Marker Score: 172
Cell Name: smooth muscle myoblast (CL0000514)
Fold Change: 0.59
Marker Score: 283
Cell Name: mononuclear cell (CL0000842)
Fold Change: 0.59
Marker Score: 191
Cell Name: gut absorptive cell (CL0000677)
Fold Change: 0.58
Marker Score: 368
Cell Name: astrocyte (CL0000127)
Fold Change: 0.57
Marker Score: 494
Cell Name: lens epithelial cell (CL0002224)
Fold Change: 0.57
Marker Score: 684
Cell Name: intestinal enteroendocrine cell (CL1001516)
Fold Change: 0.55
Marker Score: 441
Cell Name: bronchial epithelial cell (CL0002328)
Fold Change: 0.55
Marker Score: 146
Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
Fold Change: 0.55
Marker Score: 184
Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
Fold Change: 0.54
Marker Score: 1267
Cell Name: GABAergic neuron (CL0000617)
Fold Change: 0.54
Marker Score: 2242
Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: 0.54
Marker Score: 2250
Cell Name: choroid plexus epithelial cell (CL0000706)
Fold Change: 0.54
Marker Score: 492.5
Cell Name: sympathetic neuron (CL0011103)
Fold Change: 0.51
Marker Score: 169
Cell Name: ganglion interneuron (CL0000397)
Fold Change: 0.49
Marker Score: 148
Cell Name: lymphocyte (CL0000542)
Fold Change: 0.46
Marker Score: 234.5
Cell Name: neuronal receptor cell (CL0000006)
Fold Change: 0.46
Marker Score: 205
Cell Name: ciliary muscle cell (CL1000443)
Fold Change: 0.46
Marker Score: 1013
Cell Name: medullary thymic epithelial cell (CL0002365)
Fold Change: 0.45
Marker Score: 735
Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: 0.44
Marker Score: 931
Cell Name: anterior lens cell (CL0002223)
Fold Change: 0.44
Marker Score: 589

**Key characteristics:** - The ABCA3 protein is a type II transmembrane protein that is expressed in a variety of cell types. - It is a highly conserved protein, with a sequence similar to ABCA1 and ABCA4. - ABCA3 is a multi-pass membrane protein that is composed of eight transmembrane domains. - It is a member of the ATP-binding cassette family of proteins, which are involved in the transport of molecules between the cell and the extracellular environment. **Pathways and functions:** - ABCA3 is involved in a variety of cellular processes, including: - Abc-family proteins mediated transport - Abc-type xenobiotic transporter activity - Abc transporters in lipid homeostasis - Atpase-coupled transmembrane transporter activity - Atp binding - Atp hydrolysis activity - It is also involved in the metabolism of proteins, phosphatidylcholine flippase activity, and phospholipid transfer activity. **Clinical significance:** - Mutations in the ABCA3 gene have been linked to several human diseases, including: - Smdp3 disease - Diseases associated with surfactant metabolism - Diseases of metabolism - Disorders of transmembrane transporters - Lipid transporter activity - Metabolism of proteins

Database document:

Only first 5 entries are kept for 'singleCellExpressions', 'mRNAExpressions' and other large data arrays.