| Gene Information | |
|---|---|
| Gene Name | BAH |
| Organism | Homo sapiens (Human) |
| Gene Length | 758 |
| Protein Names | Aspartyl/asparaginyl beta-hydroxylase (EC 1.14.11.16) (Aspartate beta-hydroxylase) (ASP beta-hydroxylase) (Peptide-aspartate beta-dioxygenase) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q12797 |
| Gene Card | ASPH |
| Uniprot ID | Q12797 |
| Pfam | PF05279; PF05118 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Isoform 1 is detected in all tissues tested. Isoform 8 is mainly expressed in pancreas, heart, brain, kidney and liver. Isoform 8 is expressed in kidney (at protein level). {ECO:0000269|PubMed:11007777}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 5APA (X-ray 2.05A ) 5JQY (X-ray 1.99A ) 5JTC (X-ray 2.24A ) 5JZ6 (X-ray 2.35A ) 5JZ8 (X-ray 2.10A ) 5JZA (X-ray 2.14A ) 5JZU (X-ray 2.50A ) 6Q9F (X-ray 1.63A ) 6Q9I (X-ray 1.85A ) 6QA5 (X-ray 2.65A ) 6RK9 (X-ray 2.29A ) 6YYU (X-ray 2.11A ) 6YYV (X-ray 1.77A ) 6YYW (X-ray 2.27A ) 6YYX (X-ray 1.53A ) 6YYY (X-ray 2.29A ) 6Z6Q (X-ray 1.81A ) 6Z6R (X-ray 2.13A ) 7BMI (X-ray 1.66A ) 7BMJ (X-ray 1.75A ) 7E6J (X-ray 1.90A ) |
| DBSNP | rs6995412 rs374385878 |
| Subcellular location [CC] | [Isoform 1]: Endoplasmic reticulum membrane; Single-pass type II membrane protein {ECO:0000250|UniProtKB:Q28056}.; [Isoform 4]: Sarcoplasmic reticulum membrane; Single-pass type II membrane protein {ECO:0000305|PubMed:15485681}.; [Isoform 8]: Endoplasmic reticulum membrane; Single-pass type II membrane protein {ECO:0000269|PubMed:22586105}. |
| Mouse PG classification | NA |
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