| Gene Information | |
|---|---|
| Gene Name | ML4 |
| Organism | Homo sapiens (Human) |
| Gene Length | 580 |
| Protein Names | Mucolipin-1 (ML1) (MG-2) (Mucolipidin) (Transient receptor potential channel mucolipin 1) (TRPML1) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q9GZU1 |
| Gene Card | MCOLN1 |
| Uniprot ID | Q9GZU1 |
| Pfam | PF08016 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Widely expressed in adult and fetal tissues. {ECO:0000269|PubMed:10973263, ECO:0000269|PubMed:11013137, ECO:0000269|PubMed:11030752}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 5TJA (X-ray 2.30A ) 5TJB (X-ray 2.40A ) 5TJC (X-ray 2.40A ) 5WJ5 (EM 3.70A ) 5WJ9 (EM 3.49A ) 6E7P (EM 3.50A ) 6E7Y (EM 3.57A ) 6E7Z (EM 3.73A ) 7MGL (EM 2.90A ) |
| DBSNP | rs797044825 rs767122713 rs121908372 rs121908374 rs797044817 rs754097561 rs797044827 rs797044828 |
| Subcellular location [CC] | Late endosome membrane {ECO:0000269|PubMed:15178326, ECO:0000269|PubMed:21224396}; Multi-pass membrane protein {ECO:0000269|PubMed:29019983}. Lysosome membrane {ECO:0000269|PubMed:12459486, ECO:0000269|PubMed:21224396, ECO:0000305|PubMed:16497227, ECO:0000305|PubMed:16978393}; Multi-pass membrane protein {ECO:0000269|PubMed:29019983}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:12459486}; Multi-pass membrane protein {ECO:0000269|PubMed:29019983}. Cell projection, phagocytic cup {ECO:0000250|UniProtKB:Q99J21}. Cytoplasmic vesicle, phagosome membrane {ECO:0000250|UniProtKB:Q99J21}; Multi-pass membrane protein {ECO:0000269|PubMed:29019983}. Cell membrane {ECO:0000305|PubMed:29019983}; Multi-pass membrane protein {ECO:0000269|PubMed:29019983}. Note=Delivery from the trans-Golgi to lysosomes seems to occur mainly in a direct intracellular manner without intermediate delivery to the plasma membrane (PubMed:16497227). Under normal conditions, restricted to intracellular compartments so that only a very minor proportion is present at the cell membrane (PubMed:12459486, PubMed:18794901, PubMed:28112729, PubMed:29019983). {ECO:0000269|PubMed:12459486, ECO:0000269|PubMed:18794901, ECO:0000269|PubMed:28112729, ECO:0000269|PubMed:29019983, ECO:0000305|PubMed:16497227}. |
| Mouse PG classification | NA |
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