| Gene Information | |
|---|---|
| Gene Name | ABCA7 |
| Organism | Homo sapiens (Human) |
| Gene Length | 2146 |
| Protein Names | Phospholipid-transporting ATPase ABCA7 (EC 7.6.2.1) (ABCA-SSN) (ATP-binding cassette sub-family A member 7) (Autoantigen SS-N) (Macrophage ABC transporter) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 332 ( ENSG00000064687 ) |
| Evolutionary Stage | Mammalia |
| AlphaFoldDB | Q8IZY2 |
| Gene Card | ABCA7 |
| Uniprot ID | Q8IZY2 |
| Pfam | PF00005 |
| In ASD | no |
| Allosteric Prediction | no (-0.12076238) |
| Ortholog in Animals | Alpaca_ ABCA7 ( ortholog_one2one ) Dog_ ABCA7 ( ortholog_one2one ) GuineaPig_ ABCA7 ( ortholog_one2one ) Macaque_ ABCA7 ( ortholog_one2one ) Mouse_ Abca7 ( ortholog_one2one ) Pig_ ABCA7 ( ortholog_one2one ) Rat_ Abca7 ( ortholog_one2one ) |
| Ohnologs | ABCA1, ABCA4 |
| Paralogs | ABCA5, ABCA9, ABCA12, ABCA8, ABCA13, ABCA3, ABCA1, ABCA2, ABCA6, ABCA10, ABCA4 |
| Tissue | spleen |
| Tissue Specificity | Expressed in leukocytes (at protein level) (PubMed:10873640). Widely expressed (PubMed:10873640). Highly expressed in myelo-lymphatic tissues including peripheral leukocytes, thymus, spleen and bone marrow (PubMed:10873640, PubMed:11435699). Expressed in the hippocampus and the cerebellum (PubMed:27472885). Isoform 2: Abundant in lymph node, spleen, thymus and trachea (PubMed:14592415). Isoform 1: Strongly expressed in brain and bone marrow (PubMed:14592415). {ECO:0000269|PubMed:10873640, ECO:0000269|PubMed:11435699, ECO:0000269|PubMed:14592415, ECO:0000269|PubMed:27472885}. |
| 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 | rs3764645 rs3752232 rs3764647 rs3752233 rs59851484 rs3752239 rs143718918 rs3745842 rs3752246 rs4147918 rs4147934 |
| Subcellular location [CC] | Cell membrane {ECO:0000269|PubMed:12917409, ECO:0000269|PubMed:14592415}; Multi-pass membrane protein {ECO:0000255}. Golgi apparatus membrane {ECO:0000250|UniProtKB:Q91V24}; Multi-pass membrane protein {ECO:0000255}. Early endosome membrane {ECO:0000250|UniProtKB:Q91V24}; Multi-pass membrane protein {ECO:0000255}. Cytoplasm {ECO:0000250|UniProtKB:Q91V24}. Cell projection, ruffle membrane {ECO:0000250|UniProtKB:Q91V24}. Cell projection, phagocytic cup {ECO:0000250|UniProtKB:Q91V24}. Note=Localizes to cell membrane ruffles and phagocytic cups of macrophages stimulated with C1q or apoptotic cells. Localizes to the cytoplasm of resting macrophages, probably in Golgi and endosomes. Localizes to the apical brush border of cells in the proximal tubules of kidney (By similarity). {ECO:0000250|UniProtKB:Q91V24}.; [Isoform 2]: Cytoplasm {ECO:0000269|PubMed:14592415}. Endoplasmic reticulum {ECO:0000269|PubMed:14592415}. Note=May localize to the endoplasmic reticulum. {ECO:0000269|PubMed:14592415}. |
| Mouse PG classification | NA |
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