| Gene Information | |
|---|---|
| Gene Name | GANAB |
| Organism | Homo sapiens (Human) |
| Gene Length | 944 |
| Protein Names | Neutral alpha-glucosidase AB (EC 3.2.1.207) (Alpha-glucosidase 2) (Glucosidase II subunit alpha) |
| Target Name | neutral alpha-glucosidase ab |
| Target Type | NA |
| Gene Age | 680 ( ENSG00000089597 ) |
| Evolutionary Stage | Eukaryota |
| AlphaFoldDB | Q14697 |
| Gene Card | GANAB |
| Uniprot ID | Q14697 |
| Pfam | PF13802; PF01055 |
| In ASD | yes |
| Allosteric Prediction | yes (0.487703802) |
| Ortholog in Animals | Alpaca_ GANAB ( ortholog_one2many ) Dog_ GANAB ( ortholog_one2one ) GuineaPig_ GANAB ( ortholog_one2one ) Macaque_ GANAB ( ortholog_one2one ) Mouse_ Ganab ( ortholog_one2one ) Pig_ GANAB ( ortholog_one2one ) Rat_ Ganab ( ortholog_one2one ) |
| Ohnologs | GANC |
| Paralogs | MYORG, GANC, MGAM2, GAA, MGAM, SI |
| Tissue | NA |
| Tissue Specificity | Detected in placenta (PubMed:3881423). Isoform 1 and isoform 2 are expressed in the kidney and liver (PubMed:27259053). {ECO:0000269|PubMed:27259053, ECO:0000269|PubMed:3881423}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.002990(Rat);0.022222(Rabbit) |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs750723025 rs1392032530 rs2276296 rs2276295 rs1063445 rs879255642 rs770519542 rs1465649718 rs753910059 rs879255643 rs114915323 rs1210158408 |
| Subcellular location [CC] | Endoplasmic reticulum {ECO:0000269|PubMed:33097077, ECO:0000305|PubMed:10929008}. Golgi apparatus {ECO:0000250|UniProtKB:P79403}. Melanosome {ECO:0000269|PubMed:17081065}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. {ECO:0000269|PubMed:17081065}. |
| Mouse PG classification | NA |
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