Q8K448
PR
Gene name |
Abca5 |
Protein name |
Cholesterol transporter ABCA5 |
Names |
ATP-binding cassette sub-family A member 5 |
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:217265 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q8K448
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8K448-F1 | Predicted | AlphaFoldDB |
68 variants for Q8K448
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs3389229181 | 7 | D>VSDG* | No | EVA | |
| rs253418964 | 76 | N>D | No | EVA | |
| rs223718542 | 110 | A>T | No | EVA | |
| rs3389201341 | 137 | Y>H | No | EVA | |
| rs3402907187 | 178 | A>H | No | EVA | |
| rs266251901 | 188 | K>E | No | EVA | |
| rs3389211334 | 189 | T>A | No | EVA | |
| rs3403084127 | 207 | E>K | No | EVA | |
| rs3389225621 | 213 | I>T | No | EVA | |
| rs3389183845 | 228 | A>G | No | EVA | |
| rs3389222408 | 263 | W>L | No | EVA | |
| rs3389176194 | 398 | I>F | No | EVA | |
| rs3389217294 | 410 | Y>* | No | EVA | |
| rs3389188667 | 429 | R>G | No | EVA | |
| rs3389207427 | 452 | E>* | No | EVA | |
| rs257876817 | 486 | S>F | No | EVA | |
| rs247890896 | 535 | D>E | No | EVA | |
| rs3389176199 | 542 | G>V | No | EVA | |
| rs3389211302 | 553 | E>* | No | EVA | |
| rs3412881309 | 567 | N>Y | No | EVA | |
| rs3389217317 | 614 | K>R | No | EVA | |
| rs3402673323 | 716 | R>S | No | EVA | |
| rs3402673300 | 717 | Y>D | No | EVA | |
| rs3402787935 | 719 | A>G | No | EVA | |
| rs215325337 | 735 | A>T | No | EVA | |
| rs3389217336 | 775 | G>V | No | EVA | |
| rs3389217549 | 808 | E>K | No | EVA | |
| rs238241721 | 833 | S>L | No | EVA | |
| rs3389213775 | 835 | S>C | No | EVA | |
| rs3389222444 | 843 | Q>P | No | EVA | |
| rs3389201275 | 844 | V>M | No | EVA | |
| rs242867532 | 850 | F>L | No | EVA | |
| rs253648424 | 930 | E>D | No | EVA | |
| rs3389207441 | 957 | L>F | No | EVA | |
| rs3401538658 | 970 | A>G | No | EVA | |
| rs3402858958 | 972 | F>L | No | EVA | |
| rs3402673265 | 972 | F>V | No | EVA | |
| rs3402539226 | 972 | F>Y | No | EVA | |
| rs3389188609 | 974 | S>C | No | EVA | |
| rs3389207505 | 991 | Y>H | No | EVA | |
| rs251948956 | 1000 | A>V | No | EVA | |
| rs3389225676 | 1013 | T>I | No | EVA | |
| rs242096210 | 1019 | I>V | No | EVA | |
| rs3389214808 | 1178 | P>R | No | EVA | |
| rs3389217352 | 1200 | T>I | No | EVA | |
| rs27019251 | 1231 | I>K | No | EVA | |
| rs3389213701 | 1245 | A>V | No | EVA | |
| rs3389229157 | 1254 | K>N | No | EVA | |
| rs3389214774 | 1273 | L>V | No | EVA | |
| rs3389229159 | 1294 | N>K | No | EVA | |
| rs3389183851 | 1303 | K>Q | No | EVA | |
| rs3389225661 | 1331 | L>M | No | EVA | |
| rs3389229177 | 1340 | S>G | No | EVA | |
| rs237712782 | 1345 | T>I | No | EVA | |
| rs3389201266 | 1379 | C>S | No | EVA | |
| rs3389176165 | 1421 | D>V | No | EVA | |
| rs3402107323 | 1466 | R>S | No | EVA | |
| rs3402959297 | 1469 | Q>R | No | EVA | |
| rs3389207514 | 1496 | A>T | No | EVA | |
| rs3402959298 | 1498 | A>P | No | EVA | |
| rs3402107262 | 1499 | V>L | No | EVA | |
| rs3389222410 | 1600 | F>L | No | EVA | |
| rs3389216312 | 1601 | S>P | No | EVA | |
| rs3402539218 | 1612 | L>V | No | EVA | |
| rs3403083246 | 1616 | Q>* | No | EVA | |
| rs3402794653 | 1617 | E>K | No | EVA | |
| rs27019276 | 1626 | L>V | No | EVA | |
| rs49661564 | 1636 | Q>H | No | EVA |
No associated diseases with Q8K448
6 regional properties for Q8K448
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | ABC transporter-like, ATP-binding domain | 478 - 713 | IPR003439-1 |
| domain | ABC transporter-like, ATP-binding domain | 1290 - 1533 | IPR003439-2 |
| domain | AAA+ ATPase domain | 506 - 691 | IPR003593-1 |
| domain | AAA+ ATPase domain | 1325 - 1512 | IPR003593-2 |
| domain | ABC-2 type transporter, transmembrane domain | 33 - 416 | IPR013525 |
| conserved_site | ABC transporter-like, conserved site | 615 - 629 | IPR017871 |
Functions
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| late endosome | A prelysosomal endocytic organelle differentiated from early endosomes by lower lumenal pH and different protein composition. Late endosomes are more spherical than early endosomes and are mostly juxtanuclear, being concentrated near the microtubule organizing center. |
| late endosome membrane | The lipid bilayer surrounding a late endosome. |
| lysosomal membrane | The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm. |
| lysosome | A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| ABC-type transporter activity | Primary active transporter characterized by two nucleotide-binding domains and two transmembrane domains. Uses the energy generated from ATP hydrolysis to drive the transport of a substance across a membrane. |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATPase-coupled transmembrane transporter activity | Primary active transporter of a solute across a membrane, via the reaction: ATP + H2O = ADP + phosphate, to directly drive the transport of a substance across a membrane. The transport protein may be transiently phosphorylated (P-type transporters), or not (ABC-type transporters and other families of transporters). Primary active transport occurs up the solute's concentration gradient and is driven by a primary energy source. |
| lipid transporter activity | Enables the directed movement of lipids into, out of or within a cell, or between cells. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| cholesterol efflux | The directed movement of cholesterol, cholest-5-en-3-beta-ol, out of a cell or organelle. |
| cholesterol homeostasis | Any process involved in the maintenance of an internal steady state of cholesterol within an organism or cell. |
| cholesterol metabolic process | The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues. |
| high-density lipoprotein particle remodeling | The acquisition, loss or modification of a protein or lipid within a high-density lipoprotein particle, including the hydrolysis of triglyceride by hepatic lipase, with the subsequent loss of free fatty acid, and the transfer of cholesterol esters from LDL to a triglyceride-rich lipoprotein particle by cholesteryl ester transfer protein (CETP), with the simultaneous transfer of triglyceride to LDL. |
| lipid transport | The directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. |
| negative regulation of macrophage derived foam cell differentiation | Any process that decreases the rate, frequency or extent of macrophage derived foam cell differentiation. Macrophage derived foam cell differentiation is the process in which a macrophage acquires the specialized features of a foam cell. A foam cell is a type of cell containing lipids in small vacuoles and typically seen in atherosclerotic lesions, as well as other conditions. |
| positive regulation of reverse cholesterol transport | Any process that activates or increases the frequency, rate or extent of reverse cholesterol transport. |
| regulation of cholesterol efflux | Any process that modulates the frequency, rate or extent of cholesterol efflux. Cholesterol efflux is the directed movement of cholesterol, cholest-5-en-3-beta-ol, out of a cell or organelle. |
| reverse cholesterol transport | The directed movement of peripheral cell cholesterol, cholest-5-en-3-beta-ol, towards the liver for catabolism. |
12 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q86UK0 | ABCA12 | Glucosylceramide transporter ABCA12 | Homo sapiens (Human) | PR |
| P78363 | ABCA4 | Retinal-specific phospholipid-transporting ATPase ABCA4 | Homo sapiens (Human) | PR |
| Q8IUA7 | ABCA9 | ATP-binding cassette sub-family A member 9 | Homo sapiens (Human) | PR |
| Q8N139 | ABCA6 | ATP-binding cassette sub-family A member 6 | Homo sapiens (Human) | PR |
| Q8WWZ4 | ABCA10 | ATP-binding cassette sub-family A member 10 | Homo sapiens (Human) | PR |
| Q8WWZ7 | ABCA5 | Cholesterol transporter ABCA5 | Homo sapiens (Human) | PR |
| Q8K442 | Abca8a | ABC-type organic anion transporter ABCA8A | Mus musculus (Mouse) | PR |
| Q8K449 | Abca9 | ATP-binding cassette sub-family A member 9 | Mus musculus (Mouse) | PR |
| P34358 | ced-7 | ABC transporter ced-7 | Caenorhabditis elegans | PR |
| Q84K47 | ABCA2 | ABC transporter A family member 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FKF2 | ABCA11 | ABC transporter A family member 11 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FLT5 | ABCA9 | ABC transporter A family member 9 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MATAIRDVGV | WRQTRTLLLK | NYLIKCRTKK | SSVQEILFPL | FFLFWLILVS | MMHPNKKYEE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VSDIELSPMD | KFSLSNVILG | YTPVTNITSS | IMQRVSTDHL | PKVIVTEEYA | NEKELVAASL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SKSSNFVGVV | FKDTMSYELR | FFPEMIPVSS | IYMNSREGCS | KTCDAAQYWS | LGFTVLQASI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DAAIIQLKTN | VSVWSELEST | KAVIMGEAAV | VEIDTFPRGV | ILIYLVIAFS | PFGYFLAIHI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VAEKEKKLKE | FLKIMGLHDT | AFWLSWVLLY | ASLIFLMSLL | MAVIATASSL | FPQSSSIVIF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LLFFLYGLSS | VFFALMLTPL | FKKSKHVGVV | EFFVTVVFGF | VGLLIVLIES | FPRSLVWLFS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PLCQCAFLIG | IAQVMHLEDF | NEGALFSNLT | EGPYPLIITI | IMLALDSVFY | VLLAVYLDQV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| IPGEFGLRRS | SLYFLKPSYW | SKNKRNYKEL | SEGNINGNIS | LNEIVEPVSS | EFIGKEAIRI |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SGIQKSYRKK | TENVEALRNL | SFDIYEGQIT | ALLGHSGTGK | STLMNILCGL | CPPSDGFASI |
| 550 | 560 | 570 | 580 | 590 | 600 |
| YGHRVSEIDE | MFEARKMIGI | CPQSDINFDV | LTVEENLSIL | ASIKGIPANN | IIQEVQKVLL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| DLDMQAIKDN | QAKKLSGGQK | RKLSVGIAVL | GNPKILLLDE | PTAGMDPCSR | HIVWNLLKYR |
| 670 | 680 | 690 | 700 | 710 | 720 |
| KANRVTVFST | HFMDEADILA | DRKAVISQGM | LKCVGSSIFL | KSKWGIGYRL | SMYIDRYCAT |
| 730 | 740 | 750 | 760 | 770 | 780 |
| ESLSSLVRQH | IPAAALLQQN | DQQLVYSLPF | KDMDKFSGLF | SALDIHSNLG | VISYGVSMTT |
| 790 | 800 | 810 | 820 | 830 | 840 |
| LEDVFLKLEV | EAEIDQADYS | VFTQQPREEE | TDSKSFDEME | QSLLILSETK | ASSVSTMSLW |
| 850 | 860 | 870 | 880 | 890 | 900 |
| KQQVSTIAKF | HFLSLKRESK | SVRAVLLLLL | IFFAVQIFMF | FLHHSFKNAV | VPIKLVPDLY |
| 910 | 920 | 930 | 940 | 950 | 960 |
| FLKPGDKPHK | YKTSLLLQNS | TDSDINGLIE | FFAHQNIMVA | MFNDSDYVSA | APHSAALNVV |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| RSEKDYVFSA | VFNSTMVYCL | PVMMNIISNY | YLYHLNVTEA | IQTWSTPFIQ | EITDIVFKIE |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| LYFQAALLGI | IVTAMPPYFA | MENAENHKIK | AYTQLKLSGL | LPSAYWVGQA | VVDIPLFFVV |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| LILMLGSLFA | FHHGLYFYPA | KFLAVVFCLI | AYVPSVILFT | YIASFTFKKI | LNTKEFWSFI |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| YSVTALACVA | ITETTFFLQY | AVTAVFHYTF | CIAIPIYPLL | GCLISFIKGS | WKNMPKNENT |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| YNPWDRLLVA | VIMPYLQCIL | WIFLLQHYEK | IHGGRSIRKD | PFFRALSQKA | KNKKFPEPPI |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| NEDEDEDVKA | ERLKVKELMG | CQCCEEKPAI | MVCNLHKEYD | DKKDFLHSRK | TTKVATKYIS |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| FCVKKGEILG | LLGPNGAGKS | TVINTLVGDV | EPTSGKIFLG | DYGSHSSEDD | ESIKCMGYCP |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| QTNPLWPDLT | LQEHFEIYGA | VKGMSPGDMK | EVISRITKAL | DLKEHLQKTV | KKLPAGIKRK |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| LCFALSMLGN | PQVTLLDEPS | TGMDPRAKQH | MWRAIRTAFK | NKKRAALLTT | HYMEEAEAVC |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| DRVAIMVSGQ | LRCIGTVQHL | KSKFGKGYFL | EIKLKDWIEN | LEIDRLQREI | QYIFPNASRQ |
| 1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
| ESFSSILAFK | IPKEDVQSLS | QSFAKLEEAK | RTFAIEEYSF | SQATLEQVFV | ELTKEQEEED |
| 1630 | 1640 | ||||
| NSCGTLASTL | WWERTQEDRV | VF |