| Gene Information | |
|---|---|
| Gene Name | TBC1D4 |
| Organism | Homo sapiens (Human) |
| Gene Length | 1298 |
| Protein Names | TBC1 domain family member 4 (Akt substrate of 160 kDa) (AS160) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 645 ( ENSG00000136111 ) |
| Evolutionary Stage | Eukaryota |
| AlphaFoldDB | O60343 |
| Gene Card | TBC1D4 |
| Uniprot ID | O60343 |
| Pfam | PF11830; PF00640; PF00566 |
| In ASD | no |
| Allosteric Prediction | yes (0.162673224) |
| Ortholog in Animals | Alpaca_ TBC1D4 ( ortholog_one2one ) Dog_ TBC1D4 ( ortholog_one2one ) GuineaPig_ TBC1D4 ( ortholog_one2one ) Macaque_ TBC1D4 ( ortholog_one2one ) Mouse_ Tbc1d4 ( ortholog_one2one ) Pig_ TBC1D4 ( ortholog_one2one ) Rat_ Tbc1d4 ( ortholog_one2one ) Rabbit_ TBC1D4 ( ortholog_one2one ) |
| Ohnologs | TBC1D1 |
| Paralogs | TBC1D3C, TBC1D3D, TBC1D3, TBC1D3G, TBC1D3B, TBC1D3F, TBC1D3I, TBC1D3E, TBC1D3L, TBC1D3H, TBC1D3K, TBC1D8, TBC1D14, TBC1D10A, SGSM1, TBC1D8B, TBC1D2B, TBC1D10B, RABGAP1, TBC1D17, TBC1D9B, TBC1D25, TBC1D30, TBC1D26, TBC1D28, TBC1D22A, USP6NL, TBC1D9, RABGAP1L, TBC1D2, TBC1D13, TBC1D12, SGSM2, GRTP1, EVI5, EVI5L, TBC1D15, SGSM3, TBC1D16, TBCK, TBC1D22B, TBC1D5, TBC1D1, TBC1D10C, TBC1D21 |
| Tissue | NA |
| Tissue Specificity | Widely expressed. Isoform 2 is the highest overexpressed in most tissues. Isoform 1 is highly expressed in skeletal muscle and heart, but was not detectable in the liver nor in adipose tissue. Isoform 2 is strongly expressed in adrenal and thyroid gland, and also in lung, kidney, colon, brain and adipose tissue. Isoform 2 is moderately expressed in skeletal muscle. Expressed in pancreatic Langerhans islets, including beta cells (at protein level). Expression is decreased by twofold in pancreatic islets in type 2 diabetes patients compared to control subjects. Up-regulated in T-cells from patients with atopic dermatitis. {ECO:0000269|PubMed:15304337, ECO:0000269|PubMed:18276765, ECO:0000269|PubMed:18771725}. |
| 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 | 3QYB (X-ray 3.50A ) 7NIX (X-ray 1.90A ) |
| DBSNP | rs56223054 rs1062087 rs58232698 rs9600455 rs557337 rs11616741 |
| Subcellular location [CC] | Cytoplasm {ECO:0000269|PubMed:18771725}. Note=Isoform 2 shows a cytoplasmic perinuclear localization in a myoblastic cell line in resting and insulin-stimulated cells. |
| Mouse PG classification | NA |
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