| Gene Information | |
|---|---|
| Gene Name | SKI1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 493 |
| Protein Names | Protein-cysteine N-palmitoyltransferase HHAT (EC 2.3.1.-) (Hedgehog acyltransferase) (Melanoma antigen recognized by T-cells 2) (MART-2) (Skinny hedgehog protein 1) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q5VTY9 |
| Gene Card | HHAT |
| Uniprot ID | Q5VTY9 |
| Pfam | PF03062 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Widely expressed. Expressed in fetal ovary and testis, with high levels of expression observed in Sertoli cells (PubMed:24784881). {ECO:0000269|PubMed:11160356, ECO:0000269|PubMed:24784881}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 6P64 (X-ray 3.05A ) 6UJO (X-ray 2.25A ) 6UJQ (X-ray 2.55A ) 6UK2 (X-ray 3.14A ) 6UK4 (X-ray 2.70A ) 7MHY (EM 2.70A ) 7MHZ (EM 3.20A ) 7Q1U (EM 2.70A ) 7Q6Z (EM 3.59A ) 7URF (EM 2.80A ) |
| DBSNP | rs2228898 rs2294851 rs34228541 rs757163023 rs147954610 |
| Subcellular location [CC] | Endoplasmic reticulum membrane {ECO:0000269|PubMed:25488661, ECO:0000269|PubMed:25505265, ECO:0000305|PubMed:18534984}; Multi-pass membrane protein {ECO:0000269|PubMed:25488661, ECO:0000269|PubMed:25505265}. Golgi apparatus membrane {ECO:0000305|PubMed:18534984}; Multi-pass membrane protein {ECO:0000255}. Note=Co-localizes with SHH in the ER and Golgi membrane. {ECO:0000305|PubMed:18534984}. |
| Mouse PG classification | NA |
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