| Name | ABCA1 |
|---|---|
| Description | ATP-binding cassette, sub-family A (ABC1), member 1 |
| Owner | Public |
| URN | urn:agi-llid:19 |
| Connectivity | 69 |
| Notes | The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway. Mutations in this gene have been associated with Tangier's disease and familial high-density lipoprotein deficiency. |
| Hugo ID | 29 |
| Microarray ID | 1384381_at |
|---|---|
| rc_ai171534_at | |
| 1421839_at | |
| 1450392_at | |
| 97198_at | |
| x75926_s_at | |
| A_51_P214977 | |
| 81450_at | |
| 216066_at | |
| 32000_g_at | |
| 31999_at | |
| 31998_at | |
| 52656_s_at | |
| 60496_r_at | |
| 203505_at | |
| 203504_s_at | |
| 1570279_at | |
| 215869_at | |
| AA292158_s_at | |
| RC_AA521292_at | |
| 215876_at | |
| 78250_f_at | |
| 78253_r_at | |
| rc_aa434152_at | |
| 218991_at | |
| 65493_at | |
| rc_n69464_at | |
| A_23_P216649 | |
| A_14_P122518 | |
| A_14_P126650 | |
| A_14_P105534 | |
| A_14_P119201 | |
| A_24_P235429 | |
| A_14_P128797 | |
| A_24_P289265 | |
| A_23_P77959 | |
| A_23_P77965 | |
| A_14_P136792 | |
| A_14_P117591 | |
| OH0007A | |
| OH10944 | |
| MA941 |
| Chromosome position | 4 23.1 cM |
|---|---|
| 5q24 | |
| 9q31.1 |
| GO ID | 0043231 |
|---|---|
| 0045332 | |
| 0000166 | |
| 0005524 | |
| 0005624 | |
| 0005887 | |
| 0006629 | |
| 0006810 | |
| 0008202 | |
| 0008203 | |
| 0008509 | |
| 0015248 | |
| 0016887 | |
| 0015914 | |
| 0042626 | |
| 0005794 | |
| 0006911 | |
| 0016021 | |
| 0017111 | |
| 0030301 | |
| 0042158 |
| Alias | Tangier disease protein |
|---|---|
| HDLDT1s | |
| HDLDT Is | |
| ATP-binding cassette, sub-family A (ABC1), member I | |
| ATP-binding cassette transporter I | |
| ABC I | |
| Abca I | |
| high density lipoprotein deficiency, Tangier type, I | |
| Abca1 | |
| high density lipoprotein deficiency, Tangier type, 1 | |
| ATP-binding cassette transporter 1 | |
| ATP-binding cassette, sub-family A member 1 | |
| HDLDT I | |
| ATP-binding cassette, sub-family A member I | |
| ATP-binding cassette I | |
| ABC1 | |
| Cholesterol efflux regulatory protein | |
| HDLDT1 | |
| high density lipoprotein deficiency, Tangier type | |
| ATP-binding cassette 1 | |
| ATP-binding cassette, sub-family A (ABC1), member 1 | |
| CERP | |
| ATP-binding cassette 1, sub-family A, member 1 | |
| TGD | |
| Tangier disease |
| Organism | Mus musculus |
|---|---|
| Homo sapiens | |
| Rattus norvegicus |
| MedLine Reference | 10878804 |
|---|---|
| 11559713 | |
| 12466851 | |
| 12859204 | |
| 10431236 | |
| 9006906 | |
| 12746305 | |
| 12909583 | |
| 14993246 |
| LocusLink ID | 11303 |
|---|---|
| 8371 | |
| 19 | |
| 313210 | |
| 8298 |
| FunctionalClass | ATP binding |
|---|---|
| ATPase | |
| anion transporter | |
| nucleotide binding | |
| sterol transporter | |
| ATPase activity, coupled to transmembrane movement of substances | |
| nucleoside-triphosphatase |
| RGD ID | 631344 |
|---|
| Hugo Symbol | ABCA1 |
|---|
| Unigene ID | Rn.118506 |
|---|---|
| Mm.277376 | |
| Hs.429294 |
| GO Cellular Component | Golgi apparatus |
|---|---|
| integral to membrane | |
| intracellular membrane-bound organelle | |
| integral to plasma membrane | |
| membrane fraction |
| Cell Localization | Plasma membrane |
|---|---|
| Mitochondria |
| Pathway | IFNG-HLA-C |
|---|---|
| IFNG-IFNGR2 | |
| IL1B-HLA-DRB1 | |
| INS-HLA-DRB1 | |
| INS-TFRC | |
| TGFB1-ACVR1 | |
| TGFB1-ACVR1B | |
| TGFB1-ACVR2 | |
| TGFB1-ACVR2B | |
| TGFB1-ACVRL1 | |
| TGFB1-BMPR1B | |
| TGFB1-IGF2R | |
| TGFB1-IL6R | |
| TGFB1-M6PR | |
| TGFB1-SELE | |
| TGFB1-SELL | |
| TGFB1-TGFBR1 | |
| TGFB1-TGFBR2 | |
| TGFB1-TGFBR3 | |
| Full DuPont | |
| DuPont 2 | |
| DuPont 3 | |
| DuPont 4 | |
| Volcano 2 | |
| CLADiff | |
| PPAR all | |
| PPARgamma | |
| PPARalpha | |
| PPARbeta | |
| LXR | |
| NR common targets | |
| NR CYP ABCs | |
| NR target genes |
| GO Biological Process | cholesterol transport |
|---|---|
| lipoprotein biosynthesis | |
| phagocytosis, engulfment | |
| phospholipid translocation | |
| cholesterol metabolism | |
| lipid metabolism | |
| steroid metabolism | |
| transport | |
| phospholipid transport |
| Group | Kinases |
|---|---|
| Transporters | |
| Full DuPont | |
| New Group | |
| CLA Diff | |
| ABCs |
| MGI ID | 99607 |
|---|
| Swiss-Prot Accession | O95477 |
|---|
| OMIM ID | 600046 |
|---|---|
| 105150 | |
| 143890 | |
| 604091 | |
| 205400 |
| Source | Curated |
|---|