| URN | urn:agi-llid:19 |
|---|---|
| Connectivity | 383 |
| Name | Abca1 |
| Description | ATP-binding cassette, sub-family A (ABC1), member 1 |
| 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. [provided by RefSeq] |
| Pathway | retinol metabolic pathway |
|---|
| GO Molecular Function | nucleotide binding |
|---|---|
| apolipoprotein binding | |
| phospholipid binding | |
| high-density lipoprotein binding | |
| apolipoprotein A-I binding | |
| syntaxin-13 binding | |
| high-density lipoprotein receptor binding | |
| small GTPase binding | |
| apolipoprotein A-I receptor activity | |
| ATP binding | |
| cholesterol binding | |
| ATPase activity, coupled to transmembrane movement of substances | |
| nucleoside-triphosphatase activity | |
| ATPase activity | |
| phospholipid transporter activity | |
| anion transmembrane transporter activity | |
| cholesterol transporter activity |
| GO Cellular Component | membrane |
|---|---|
| plasma membrane | |
| membrane raft | |
| intracellular membrane-bounded organelle | |
| Golgi apparatus | |
| endocytic vesicle | |
| phagocytic vesicle | |
| membrane fraction | |
| caveola | |
| integral to membrane | |
| integral to plasma membrane |
| GO Biological Process | transport |
|---|---|
| negative regulation of macrophage derived foam cell differentiation | |
| endosome transport | |
| cellular response to retinoic acid | |
| Cdc42 protein signal transduction | |
| positive regulation of cAMP biosynthetic process | |
| interleukin-1 beta secretion | |
| phagocytosis, engulfment | |
| phospholipid translocation | |
| lipoprotein metabolic process | |
| lipoprotein biosynthetic process | |
| protein amino acid lipidation | |
| lysosome organization | |
| platelet dense granule organization | |
| cellular response to lipopolysaccharide | |
| response to drug | |
| response to nutrient | |
| response to high density lipoprotein stimulus | |
| negative regulation of cholesterol storage | |
| positive regulation of cholesterol efflux | |
| high-density lipoprotein particle assembly | |
| steroid metabolic process | |
| cholesterol metabolic process | |
| peptide secretion | |
| phospholipid transport | |
| cholesterol transport | |
| phospholipid efflux | |
| intracellular cholesterol transport | |
| reverse cholesterol transport | |
| cholesterol efflux | |
| G-protein coupled receptor protein signaling pathway | |
| phospholipid homeostasis | |
| cholesterol homeostasis |
| Ariadne Ontology | Cholesterol export |
|---|
| Group | Cholesterol export |
|---|---|
| transport | |
| negative regulation of macrophage derived foam cell differentiation | |
| endosome transport | |
| cellular response to retinoic acid | |
| Cdc42 protein signal transduction | |
| positive regulation of cAMP biosynthetic process | |
| interleukin-1 beta secretion | |
| phagocytosis, engulfment | |
| phospholipid translocation | |
| lipoprotein metabolic process | |
| lipoprotein biosynthetic process | |
| protein amino acid lipidation | |
| lysosome organization | |
| platelet dense granule organization | |
| cellular response to lipopolysaccharide | |
| response to drug | |
| response to nutrient | |
| response to high density lipoprotein stimulus | |
| negative regulation of cholesterol storage | |
| positive regulation of cholesterol efflux | |
| high-density lipoprotein particle assembly | |
| steroid metabolic process | |
| cholesterol metabolic process | |
| peptide secretion | |
| phospholipid transport | |
| cholesterol transport | |
| phospholipid efflux | |
| intracellular cholesterol transport | |
| reverse cholesterol transport | |
| cholesterol efflux | |
| G-protein coupled receptor protein signaling pathway | |
| phospholipid homeostasis | |
| cholesterol homeostasis | |
| nucleotide binding | |
| apolipoprotein binding | |
| phospholipid binding | |
| high-density lipoprotein binding | |
| apolipoprotein A-I binding | |
| syntaxin-13 binding | |
| high-density lipoprotein receptor binding | |
| small GTPase binding | |
| apolipoprotein A-I receptor activity | |
| ATP binding | |
| cholesterol binding | |
| ATPase activity, coupled to transmembrane movement of substances | |
| nucleoside-triphosphatase activity | |
| ATPase activity | |
| phospholipid transporter activity | |
| anion transmembrane transporter activity | |
| cholesterol transporter activity | |
| membrane | |
| plasma membrane | |
| membrane raft | |
| intracellular membrane-bounded organelle | |
| Golgi apparatus | |
| endocytic vesicle | |
| phagocytic vesicle | |
| membrane fraction | |
| caveola | |
| integral to membrane | |
| integral to plasma membrane |
| MedScan ID | 19 |
|---|
| Hugo ID | 29 |
|---|
| Human chromosome position | 9q31.1 |
|---|
| LocusLink ID | 19 |
|---|---|
| 11303 | |
| 313210 |
| Alias | TGD |
|---|---|
| ABC1 | |
| CERP | |
| ABC-1 | |
| HDLDT1 | |
| FLJ14958 | |
| MGC164864 | |
| MGC165011 | |
| ATP-binding cassette sub-family A member 1 | |
| membrane-bound | |
| ATP-binding cassette transporter 1 | |
| ATP-binding cassette transporter A1 | |
| cholesterol efflux regulatory protein | |
| RP23-95M14.8 | |
| OTTMUSP00000007567 | |
| ATP-binding cassette 1 | |
| ABC I | |
| Abca I | |
| Abca1 | |
| ATP-binding cassette 1, sub-family A, member 1 | |
| ATP-binding cassette I | |
| ATP-binding cassette transporter A (ABC1) 1 | |
| ATP-binding cassette transporter A (ABC1) I | |
| ATP-binding cassette transporter A 1 | |
| ATP-binding cassette transporter A I | |
| ATP-binding cassette transporter I | |
| ATP-binding cassette, sub-family A (ABC1), member 1 | |
| ATP-binding cassette, sub-family A (ABC1), member I | |
| ATP-binding cassette, sub-family A member 1 | |
| ATP-binding cassette, sub-family A member I | |
| HDLDT I | |
| high density lipoprotein deficiency, Tangier type | |
| high density lipoprotein deficiency, Tangier type, 1 | |
| high density lipoprotein deficiency, Tangier type, I | |
| OTTHUMP00000021833 | |
| Tangier disease gene | |
| Tangier disease protein |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 600046 |
|---|---|
| 143890 | |
| 604091 | |
| 205400 |
| Mouse chromosome position | 4 23.1 cM |
|---|
| GO ID | 0005524 |
|---|---|
| 0016887 | |
| 0008509 | |
| 0034186 | |
| 0034188 | |
| 0034185 | |
| 0015485 | |
| 0017127 | |
| 0000166 | |
| 0005543 | |
| 0005548 | |
| 0031267 | |
| 0030349 | |
| 0032488 | |
| 0007186 | |
| 0033344 | |
| 0042632 | |
| 0008203 | |
| 0016197 | |
| 0034380 | |
| 0050702 | |
| 0032367 | |
| 0007040 | |
| 0010887 | |
| 0010745 | |
| 0002790 | |
| 0006911 | |
| 0033700 | |
| 0055091 | |
| 0045332 | |
| 0060155 | |
| 0030819 | |
| 0010875 | |
| 0006497 | |
| 0043691 | |
| 0008202 | |
| 0006810 | |
| 0005794 | |
| 0030139 | |
| 0005887 | |
| 0005624 | |
| 0045121 | |
| 0045335 | |
| 0005886 | |
| 0042626 | |
| 0008035 | |
| 0070653 | |
| 0017111 | |
| 0071222 | |
| 0071300 | |
| 0030301 | |
| 0042158 | |
| 0042157 | |
| 0015914 | |
| 0055099 | |
| 0005901 | |
| 0016021 | |
| 0043231 | |
| 0016020 | |
| 0042493 | |
| 0007584 |
| Rat chromosome position | 5q24 |
|---|
| Swiss-Prot Accession | O95477 |
|---|---|
| Q59HC0 | |
| Q9H002 | |
| Q9NP93 | |
| Q9NS76 | |
| B1AWZ8 | |
| Q8BPY1 | |
| P41233 | |
| Q80ZB2 | |
| Q5VX33 | |
| Q96S56 | |
| Q96T85 | |
| Q9NQV4 | |
| Q9UN06 | |
| Q9UN07 | |
| Q9UN08 | |
| Q9UN09 |
| Unigene ID | Hs.429294 |
|---|---|
| Mm.277376 | |
| Rn.148916 | |
| Rn.218715 |
| KEGG ID | hsa:19 |
|---|---|
| mmu:11303 | |
| rno:313210 |
| Swiss-Prot ID | ABCA1_HUMAN |
|---|---|
| B1AWZ8_MOUSE | |
| Q8BPY1_MOUSE | |
| Q80ZB2_RAT |
| Cell Localization | Membrane |
|---|---|
| Plasma membrane |
| IPI ID | IPI00293460 |
|---|---|
| IPI00889843 | |
| IPI00949022 | |
| IPI00477917 | |
| IPI00303441 | |
| IPI00642100 | |
| IPI00112614 | |
| IPI00287199 |
| Homologene ID | 21130 |
|---|
| RGD ID | 631344 |
|---|
| MGI ID | 99607 |
|---|