Abca12
entrez
74591
canonical
uniprot
E9Q876
canonical
ensembl
ENSMUSG00000050296
resolver
ensp
ENSMUSP00000084523
resolver
enst
ENSMUST00000087268
resolver
genesymbol
Abca12
resolver
uniprot_entry
ABCAC_MOUSE
resolver
amino_acid_sequence
MASQFHQLRILVWKNWLGVKRQPLWTLVLILWPVIIFIILAITRTKFPPTAKPTCYLAPRNLPSAGFFPFLQTLLCDTDSKCKDTPYGPRDLLRRKGIDGPLFKESEILKKPSNPKRDSNLSLRSTQVPERSHTSLATVPPRPSYDLEGTGTENFNGSQLLTRILGLEKLLKQNSTPEDIRRELCESYPGYTADYAFSWVTLGKNVFNKFCLSNMTLLESSLQELKYQVSQMSSDPDNQKRVFRGLVQVLSFFSQVQQQREVWQLLSSLPDVFQNGTSLSSLFGVLQKANRVLLVVQKVYPRVQTDEGFSTLQKSVKHLLNTLDSPMQGDNSTHAWSDDDEQTLSPSSLAAQLLILENFEDAILNISSNSPYSPYLACVRNMTDNLAKGSPDNLKLLQSTIHFRKSFLQNGSSEDSFPPFLEILKSKLSQLRNLTELLCESETFSSIKKSCQFSNMSFERLCEDHAFHVQLIEAAELGTDLTTGLLYHDNIISAKLRGLLTGDPSKINLNVDWLLEQALQMNYLENITRLIPTVEAMLHVNTSADASEKPGQLREMFKNIDLLKEDLRAIGMSNTSIDKLLAIPIPDNRAEIISRVFWLHSCDTNVTNPKLEDAMKEFCKLPLPERSHQSYLIGLTLLHYLDIYNFTYKVFFPRKDQKPMERMMELFIKLREILNQLASGTHPLLDKMRSLRQMHLPRSVPLTQAMYRNTRMNSPAGSFSTISQALCSQGITTEYLTAMLPSSQKPKGNHTKDFLTYKLTKEEIASKYGIPLNATPFCFSLYKDIINMPAGPVIWAFLKPMLLGKILYSPYNPTTKAIMEKSNVTLRQLAELREKSQEWMDKSPIFMNSFHLLNQTIPMLQNTLRNPFVQVFVKFSVGLDAVELLKQIDDLDVLRLKLVNNIDIIDQLNTLSSLTVNISSCVLYDRIQASDTVEEMETVAEQLYKSNELFGSVIFKLPSNGSLHRGFDPEKVSLPPIVRYTIRMSLKTAQTTRSIRTKIWAPGPHNSPSHNQIYGRAFIYLQDSIERAIIELQTGRNSQEVAVQVQAVPYPCFMKDNFLTSVSYSLPIVLMVAWVVFIAAFVKKLVYEKDLRLHEYMKMMGVNSCSHFFAWLIESIGFLLVTIAILIVILKFGNILPKTNGFILFLYFSDYSFSVIAMSYLISVFFNNTNIAALIGSLIYVIAFFPFIVLVTVEDELSYVIKVFMSLLSPTAFSYASQYIARYEEQGVGLQWENMYKSPVQDDTTSFGWLCCLILADSFIYFFIAWYVRNVFPGTYGMAAPWYFPILPSYWKERFGCAEVKHEKSNGLMFTNIMMQNTNPSASKTSPDCAFPSNIEPEPKDLQVGVALHGVTKIYGSKTAVENLNLNFYEGHITSLLGPNGAGKTTTISMLTGLFGATAGTIFVYGKDIKTDLNTVRKNMGVCMQHDVLFSYLTTKEHLLLYGSIKVPHWTKTQLHEEVKRTLKDTGLYSHRHKRVGTLSGGMKRKLSISIALIGGSRVVILDEPSTGVDPCSRRSIWDVISKNKTARTIILSTHHLDEAEVLSDRIAFLEQGGLRCCGSPFYLKEAFGDGYHLTLTKKKSPNLDTNAICDTVAVTAMIQSHLPEAYLKEDIGGELVYVLPPFSTKVSGAYLSLLRALDKGMGKLNIGCYGISDTTVEEVFLNLTKDSQKSSNMSLEHLTQRKVGNPSANGTSTPDDLSVSSSNFTDRDDKVLTRSEKLEGFGLLLKKIMAILIKRFHHTRRNWKGLIAQVILPIVFVATAMGLGTLRDSSNSYPEIMISPSIYGTSEQTAFYANFDPSTSGLVSALWNFPGIDNVCLNTSDLQCLKKDDLGKWNTSGEAIDNFGVCSCSDNVQECPKFNYHPPHRRTYSSQVIYNLTGKHMENYLITTANHFVQKRYGGWSFGMKLTNDLRFDVTAVPDNRTLAKVWYDPEGYHSLPAYLNSLNNFLLRVNMSEYDAARHGIIMYSHPYPGVQDQEQATISSLIDILVALSILMGYSVTTASFVTYIVREHQTKAKQLQHISGIGVTCYWVTNFIYDMVFYLVPVAFSIGVIAIFKLPAFYSGNNLGAVSLLLLLFGYATFSWMYLLAGLFHETGMAFITYVCVNLFFGINSIVSLSVVYFLSKEKPNDPTLELISETLKRIFLIFPQFCFGYGLIELSQQQAVLDFLKAYGVEYPSETFEMDKLGAMFVALVSQGTMFFLLRLLINEWLIKKLRLFFRKFTSSPIMETVDEDEDVRAERFRVESGAAEFDLVQLHRLTKTYQLIHKKIIAVNNISLGIPAGECFGLLGVNGAGKTTIFKMLTGDIIPSSGNILIRNKSGSLGHVDSHSSLVGYCPQEDALDDLVTVEEHLYFYARVHGIPEKDIKDTVHKLLRRLHLMAYKDRSTSMCSYGTKRKLSTALALIGKPSILLLDEPSSGMDPKSKRHLWRIISEEVQNKCSVILTSHSMEECEALCTRLAIMVNGRFQCIGSLQHIKSRFGRGFTVKVHLKNNKVSMETLTKFMQLHFPKTYLKDQHLSMLEYHVPVTAGGVANIFDLLETNKTALNITNFLVSQTTLEEVFINFAKDQKSYENVDTSSQGSTISVDSQEDQLDS
uniprot
proteins
ec_number
7.6.2.1
uniprot
proteins
function
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 (PubMed:18802465, PubMed:18957418, PubMed:20489143, PubMed:24293640, PubMed:27551807). In the meantime, participates in the transport of the lamellar granules-associated proteolytic enzymes, in turn regulates desquamation and keratinocyte differentiation (PubMed:20489143, PubMed:27551807). Furthermore, is essential for the regulation of cellular cholesterol homeostasis by regulating ABCA1-dependent cholesterol efflux from macrophages through interaction with NR1H2 and ABCA1 (PubMed:18802465, PubMed:23931754). 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 (PubMed:32072744). Also involved in lung surfactant biogenesis (PubMed:18632686). {ECO:0000269|PubMed:18632686, ECO:0000269|PubMed:18802465, ECO:0000269|PubMed:18957418, ECO:0000269|PubMed:20489143, ECO:0000269|PubMed:23931754, ECO:0000269|PubMed:24293640, ECO:0000269|PubMed:27551807, ECO:0000269|PubMed:32072744}.
uniprot
proteins
mass_dalton
292592
uniprot
proteins
mutagenesis
MUTAGEN 1388..1461; /note="ISMLTGLFGATAGTIFVYGKDIKTDLNTVRKNMGVCMQHDVLFSYLTTKEHLLLYGSIKVPHWTKTQLHEEVKR->M: In a mouse model for harlequin ichthyosis (HI), smooth skin (smsk) mutant mice show a pronounced perinatal lethal skin phenotype in 25% of the offspring and newborn mutant pups die within a few hours after birth, and appear severely dehydrated with dry cracking skin. Smsk homozygous mutants embryos show a normal appearance at 14.5 dpc, but at 16.5 dpc develop a partial absence of normal skin folds around the trunk and limbs, and by 18.5 dpc develop a taut, thick skin and limb contractures."; /evidence="ECO:0000269|PubMed:27551807"; MUTAGEN 1996; /note="G->D: In a mouse model for harlequin ichthyosis (HI), homozygous mice are embryonic lethal but occasionally pups are found in the first few hours after birth but die and are severely dehydrated and fail to suckle normally. Homozygous pups show hallmarks of HI desease including hyperkeratosis, abnormal extracellular lipid lamellae and defects in cornified envelope processing. At 14.5 dpc and 15.5 dpc homozygous embryos appear normal; however from 16.5 dpc onwards they are characterized by an absence of normal skin folds around the trunk and limbs. As development progressed, embryos develop a taut, thick epidermis and multiple contractures affecting the limbs. Late stage embryos are smaller."; /evidence="ECO:0000269|PubMed:18802465
uniprot
proteins
protein_family
ABC transporter superfamily
uniprot
proteins
protein_family
ABCA family
uniprot
proteins
pubmed
18632686
uniprot
proteins
pubmed
18802465
uniprot
proteins
pubmed
18957418
uniprot
proteins
pubmed
19468303
uniprot
proteins
pubmed
20489143
uniprot
proteins
pubmed
23931754
uniprot
proteins
pubmed
24293640
uniprot
proteins
pubmed
27551807
uniprot
proteins
pubmed
32072744
uniprot
proteins
pubmed
32873425
uniprot
proteins
sequence_length
2595
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle membrane {ECO:0000250|UniProtKB:Q86UK0}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q86UK0}. Golgi apparatus membrane {ECO:0000250|UniProtKB:Q86UK0}. Note=Localizes in the limiting membrane of the lamellar granules (LGs). Trafficks from the Golgi apparatus to the lamellar granules (LGs) at the cell periphery in the uppermost granular layer keratinocytes where ABCA12-positive LGs fuse with the keratinocyte-cell membrane to secrete their lipid content to the extracellular space of the stratum corneum. Co-localizes through the Golgi apparatus to the cell periphery with glucosylceramide. {ECO:0000250|UniProtKB:Q86UK0}.
uniprot
proteins
transmembrane_region
TRANSMEM 23..43; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1062..1082; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1109..1129; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1142..1162; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1171..1191; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1197..1217; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1247..1267; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1747..1767; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1979..1999; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 2035..2055; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 2072..2092; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 2103..2123; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 2143..2163; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 2187..2207; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 2270..2290; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins