| Gene Information | |
|---|---|
| Gene Name | ABCA12 |
| Organism | Homo sapiens (Human) |
| Gene Length | 2595 |
| Protein Names | 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) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 1064 ( ENSG00000144452 ) |
| Evolutionary Stage | Eukaryota |
| AlphaFoldDB | Q86UK0 |
| Gene Card | ABCA12 |
| Uniprot ID | Q86UK0 |
| Pfam | PF00005 |
| In ASD | no |
| Allosteric Prediction | no (-0.99989446) |
| Ortholog in Animals | Alpaca_ ABCA12 ( ortholog_one2one ) Dog_ ABCA12 ( ortholog_one2one ) GuineaPig_ ABCA12 ( ortholog_one2one ) Macaque_ ABCA12 ( ortholog_one2one ) Mouse_ Abca12 ( ortholog_one2one ) Pig_ ABCA12 ( ortholog_one2one ) Rat_ Abca12 ( ortholog_one2one ) Rabbit_ ABCA12 ( ortholog_one2one ) |
| Ohnologs | ABCA13 |
| Paralogs | ABCA5, ABCA9, ABCA7, ABCA8, ABCA13, ABCA3, ABCA1, ABCA2, ABCA6, ABCA10, ABCA4 |
| Tissue | skin, lower.leg.skin, suprapubic.skin |
| Tissue Specificity | Mainly expressed in the stomach, placenta, testis and fetal brain (PubMed:12697999). Expressed in the upper epidermal layers, mainly the granular layers, of skin (PubMed:16007253, PubMed:17591952, PubMed:17927575). Expressed throughout the normal interfollicular epidermis with prominent expression in the stratum granulosum (PubMed:19179616). Expressed in alpha and beta cells of pancreatic islets (PubMed:32072744). {ECO:0000269|PubMed:12697999, ECO:0000269|PubMed:16007253, ECO:0000269|PubMed:17591952, ECO:0000269|PubMed:17927575, ECO:0000269|PubMed:19179616, ECO:0000269|PubMed:32072744}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | NA |
| DBSNP | rs16853238 rs11890512 rs11890468 rs11891778 rs1295935868 rs746315995 rs113112835 rs370640837 rs16853149 rs7560008 rs267606622 rs13414448 rs28940269 rs28940268 rs1263698595 rs28940270 rs28940271 rs13401480 rs1457513156 rs28940568 rs181314573 rs763858530 rs1213011 rs726070 |
| Subcellular location [CC] | Cytoplasmic vesicle, secretory vesicle membrane {ECO:0000269|PubMed:16007253, ECO:0000269|PubMed:17927575}; Multi-pass membrane protein {ECO:0000305}. Golgi apparatus membrane {ECO:0000269|PubMed:17927575}. Note=Localizes in the limiting membrane of the lamellar granules (LGs) (PubMed:17927575). 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 (PubMed:16007253, PubMed:17927575). Co-localizes through the Golgi apparatus to the cell periphery with glucosylceramide (PubMed:17927575). {ECO:0000269|PubMed:16007253, ECO:0000269|PubMed:17927575}. |
| Mouse PG classification | NA |
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