Details of the Target
General Information of Target
| Target ID | LDTP08229 | |||||
|---|---|---|---|---|---|---|
| Target Name | Glucosylceramide transporter ABCA12 (ABCA12) | |||||
| Gene Name | ABCA12 | |||||
| Gene ID | 26154 | |||||
| Synonyms |
ABC12; Glucosylceramide transporter ABCA12; EC 7.6.2.1; ATP-binding cassette sub-family A member 12; ATP-binding cassette transporter 12; ATP-binding cassette 12 |
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| 3D Structure | ||||||
| Sequence |
MASLFHQLQILVWKNWLGVKRQPLWTLVLILWPVIIFIILAITRTKFPPTAKPTCYLAPR
NLPSTGFFPFLQTLLCDTDSKCKDTPYGPQDLLRRKGIDDALFKDSEILRKSSNLDKDSS LSFQSTQVPERRHASLATVFPSPSSDLEIPGTYTFNGSQVLARILGLEKLLKQNSTSEDI RRELCDSYSGYIVDDAFSWTFLGRNVFNKFCLSNMTLLESSLQELNKQFSQLSSDPNNQK IVFQEIVRMLSFFSQVQEQKAVWQLLSSFPNVFQNDTSLSNLFDVLRKANSVLLVVQKVY PRFATNEGFRTLQKSVKHLLYTLDSPAQGDSDNITHVWNEDDGQTLSPSSLAAQLLILEN FEDALLNISANSPYIPYLACVRNVTDSLARGSPENLRLLQSTIRFKKSFLRNGSYEDYFP PVPEVLKSKLSQLRNLTELLCESETFSLIEKSCQLSDMSFGSLCEESEFDLQLLEAAELG TEIAASLLYHDNVISKKVRDLLTGDPSKINLNMDQFLEQALQMNYLENITQLIPIIEAML HVNNSADASEKPGQLLEMFKNVEELKEDLRRTTGMSNRTIDKLLAIPIPDNRAEIISQVF WLHSCDTNITTPKLEDAMKEFCNLSLSERSRQSYLIGLTLLHYLNIYNFTYKVFFPRKDQ KPVEKMMELFIRLKEILNQMASGTHPLLDKMRSLKQMHLPRSVPLTQAMYRSNRMNTPQG SFSTISQALCSQGITTEYLTAMLPSSQRPKGNHTKDFLTYKLTKEQIASKYGIPINSTPF CFSLYKDIINMPAGPVIWAFLKPMLLGRILYAPYNPVTKAIMEKSNVTLRQLAELREKSQ EWMDKSPLFMNSFHLLNQAIPMLQNTLRNPFVQVFVKFSVGLDAVELLKQIDELDILRLK LENNIDIIDQLNTLSSLTVNISSCVLYDRIQAAKTIDEMEREAKRLYKSNELFGSVIFKL PSNRSWHRGYDSGNVFLPPVIKYTIRMSLKTAQTTRSLRTKIWAPGPHNSPSHNQIYGRA FIYLQDSIERAIIELQTGRNSQEIAVQVQAIPYPCFMKDNFLTSVSYSLPIVLMVAWVVF IAAFVKKLVYEKDLRLHEYMKMMGVNSCSHFFAWLIESVGFLLVTIVILIIILKFGNILP KTNGFILFLYFSDYSFSVIAMSYLISVFFNNTNIAALIGSLIYIIAFFPFIVLVTVENEL SYVLKVFMSLLSPTAFSYASQYIARYEEQGIGLQWENMYTSPVQDDTTSFGWLCCLILAD SFIYFLIAWYVRNVFPGTYGMAAPWYFPILPSYWKERFGCAEVKPEKSNGLMFTNIMMQN TNPSASPEYMFSSNIEPEPKDLTVGVALHGVTKIYGSKVAVDNLNLNFYEGHITSLLGPN GAGKTTTISMLTGLFGASAGTIFVYGKDIKTDLHTVRKNMGVCMQHDVLFSYLTTKEHLL LYGSIKVPHWTKKQLHEEVKRTLKDTGLYSHRHKRVGTLSGGMKRKLSISIALIGGSRVV ILDEPSTGVDPCSRRSIWDVISKNKTARTIILSTHHLDEAEVLSDRIAFLEQGGLRCCGS PFYLKEAFGDGYHLTLTKKKSPNLNANAVCDTMAVTAMIQSHLPEAYLKEDIGGELVYVL PPFSTKVSGAYLSLLRALDNGMGDLNIGCYGISDTTVEEVFLNLTKESQKNSAMSLEHLT QKKIGNSNANGISTPDDLSVSSSNFTDRDDKILTRGERLDGFGLLLKKIMAILIKRFHHT RRNWKGLIAQVILPIVFVTTAMGLGTLRNSSNSYPEIQISPSLYGTSEQTAFYANYHPST EALVSAMWDFPGIDNMCLNTSDLQCLNKDSLEKWNTSGEPITNFGVCSCSENVQECPKFN YSPPHRRTYSSQVIYNLTGQRVENYLISTANEFVQKRYGGWSFGLPLTKDLRFDITGVPA NRTLAKVWYDPEGYHSLPAYLNSLNNFLLRVNMSKYDAARHGIIMYSHPYPGVQDQEQAT ISSLIDILVALSILMGYSVTTASFVTYVVREHQTKAKQLQHISGIGVTCYWVTNFIYDMV FYLVPVAFSIGIIAIFKLPAFYSENNLGAVSLLLLLFGYATFSWMYLLAGLFHETGMAFI TYVCVNLFFGINSIVSLSVVYFLSKEKPNDPTLELISETLKRIFLIFPQFCFGYGLIELS QQQSVLDFLKAYGVEYPNETFEMNKLGAMFVALVSQGTMFFSLRLLINESLIKKLRLFFR KFNSSHVRETIDEDEDVRAERLRVESGAAEFDLVQLYCLTKTYQLIHKKIIAVNNISIGI PAGECFGLLGVNGAGKTTIFKMLTGDIIPSSGNILIRNKTGSLGHVDSHSSLVGYCPQED ALDDLVTVEEHLYFYARVHGIPEKDIKETVHKLLRRLHLMPFKDRATSMCSYGTKRKLST ALALIGKPSILLLDEPSSGMDPKSKRHLWKIISEEVQNKCSVILTSHSMEECEALCTRLA IMVNGKFQCIGSLQHIKSRFGRGFTVKVHLKNNKVTMETLTKFMQLHFPKTYLKDQHLSM LEYHVPVTAGGVANIFDLLETNKTALNITNFLVSQTTLEEVFINFAKDQKSYETADTSSQ GSTISVDSQDDQMES |
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| Target Bioclass |
Enzyme
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| Family |
ABC transporter superfamily, ABCA family
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| Subcellular location |
Cytoplasmic vesicle, secretory vesicle membrane
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| Function |
Transports lipids such as glucosylceramides from the outer to the inner leaflet of lamellar granules (LGs) membrane, whereby the lipids are finally transported to the keratinocyte periphery via the trans-Golgi network and LGs and released to the apical surface of the granular keratinocytes to form lipid lamellae in the stratum corneum of the epidermis, which is essential for skin barrier function. In the meantime, participates in the transport of the lamellar granules-associated proteolytic enzymes, in turn regulates desquamation and keratinocyte differentiation. Furthermore, is essential for the regulation of cellular cholesterol homeostasis by regulating ABCA1-dependent cholesterol efflux from macrophages through interaction with NR1H2 and ABCA1. Plays pleiotropic roles in regulating glucose stimulated insulin secretion from beta cells, regulating the morphology and fusion of insulin granules, lipid raft abundance and the actin cytoskeleton. Also involved in lung surfactant biogenesis.
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| Uniprot ID | ||||||
| Ensemble ID | ||||||
| HGNC ID | ||||||
Target Site Mutations in Different Cell Lines
| Cell line | Mutation details | Probe for labeling this protein in this cell | |||
|---|---|---|---|---|---|
| 22RV1 | SNV: p.P23L | . | |||
| AGS | SNV: p.Q1244R | . | |||
| AU565 | SNV: p.T913I | DBIA Probe Info | |||
| CAL33 | SNV: p.Q2555K | . | |||
| CAMA1 | SNV: p.L2075V | . | |||
| CCK81 | SNV: p.A1224V | . | |||
| CCLP1 | SNV: p.S576Y | . | |||
| CHL1 | SNV: p.P86L | . | |||
| COLO792 | SNV: p.E1227K | . | |||
| DANG | SNV: p.V817A | . | |||
| GB2 | SNV: p.L293M | . | |||
| HCT15 | SNV: p.T2511P | . | |||
| HEC1 | SNV: p.S106I; p.Q707R | . | |||
| HELA | SNV: p.A1282T | . | |||
| HT | SNV: p.T935P | . | |||
| HT115 | SNV: p.R434Q; p.A859V; p.Y2062C | . | |||
| HUH7 | SNV: p.E1658V | . | |||
| IM95 | Deletion: p.N1671IfsTer4 SNV: p.Y1572F |
. | |||
| IPC298 | SNV: p.R711K; p.F2551L | . | |||
| Ishikawa (Heraklio) 02 ER | SNV: p.Y2512H | . | |||
| KYSE30 | SNV: p.G2293A | . | |||
| KYSE410 | SNV: p.D937H | . | |||
| LS123 | SNV: p.L1364I | . | |||
| LS513 | SNV: p.Y643Ter | . | |||
| MCAS | SNV: p.Q732R | . | |||
| MCC13 | SNV: p.M1995I | . | |||
| MEWO | SNV: p.L977F | . | |||
| MFE319 | Insertion: p.G2110WfsTer3 SNV: p.S1431R |
. | |||
| NCIH1944 | SNV: p.L1747H | . | |||
| NCIH1993 | SNV: p.G151R | . | |||
| NCIH358 | SNV: p.P1327T | . | |||
| NOMO1 | SNV: p.Y377H | . | |||
| OVK18 | SNV: p.M791I | . | |||
| SNGM | Deletion: p.V498Ter | . | |||
| SNU423 | SNV: p.A1540T | . | |||
| SW620 | SNV: p.E219D | . | |||
| TE4 | SNV: p.L1164I | . | |||
| TF1 | SNV: p.D470V | . | |||
| WM115 | SNV: p.E1034K | . | |||
| WM2664 | SNV: p.E1034K | . | |||
| WM793 | SNV: p.S106N; p.S627L; p.E2453K | . | |||
| YSCCC | SNV: p.L165F | . | |||
Probe(s) Labeling This Target
ABPP Probe
| Probe name | Structure | Binding Site(Ratio) | Interaction ID | Ref | |
|---|---|---|---|---|---|
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DBIA Probe Info |
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C2390(1.31) | LDD3325 | [1] | |
Competitor(s) Related to This Target