| Gene Information | |
|---|---|
| Gene Name | ALMS1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 4168 |
| Protein Names | Centrosome-associated protein ALMS1 (Alstrom syndrome protein 1) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 987 ( ENSG00000116127 ) |
| Evolutionary Stage | Eumetazoa |
| AlphaFoldDB | NA |
| Gene Card | ALMS1 |
| Uniprot ID | Q8TCU4 |
| Pfam | PF15309; PF18727 |
| In ASD | no |
| Allosteric Prediction | yes (0.231221374) |
| Ortholog in Animals | Alpaca_ ALMS1 ( ortholog_one2one ) GuineaPig_ ALMS1 ( ortholog_one2one ) Macaque_ ALMS1 ( ortholog_one2one ) Mouse_ Alms1 ( ortholog_one2one ) Pig_ ALMS1 ( ortholog_one2one ) Rat_ Alms1 ( ortholog_one2one ) Rabbit_ ALMS1 ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | C10orf90, CEP295, CEP295NL |
| Tissue | testis |
| Tissue Specificity | Expressed in all tissues tested including adipose and pancreas. Expressed by beta-cells of the islets in the pancreas (at protein level). {ECO:0000269|PubMed:11941369, ECO:0000269|PubMed:11941370}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs72540761 rs2037814 rs886038612 rs6546838 rs6724782 rs6546839 rs3820700 rs2017116 rs10193972 rs34071195 |
| Subcellular location [CC] | Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843}. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, spindle pole. Note=Associated with centrosomes and basal bodies at the base of primary cilia. Specifically locates to the proximal ends of centrioles and basal bodies. Colocalizes partially with NCAPD2 at these sites. During mitosis localizes to both spindle poles. |
| Mouse PG classification | NA |
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