ALMS1
Summary: This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formation and maintanance of cilia. Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of chromosome 2. Alternative splice variants have been described but their full length nature has not been determined. [provided by RefSeq, Apr 2014].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| ALMS1, centrosome and basal body associated protein | MIM:606844 | Ensembl:ENSG00000116127 | HGNC:HGNC:428 | PA24721 | 2p13.1 |
Gene Categories:
TUMOR SUPPRESSORGO terms in ALMS1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | TAS | GO:0000086 | G2/M transition of mitotic cell cycle |
| BP | TAS | GO:0010389 | regulation of G2/M transition of mitotic cell cycle |
| BP | IMP | GO:0016197 | endosomal transport |
| BP | IMP | GO:0051492 | regulation of stress fiber assembly |
| BP | TAS | GO:0097711 | ciliary basal body-plasma membrane docking |
| CC | IEA | GO:0000922 | spindle pole |
| CC | IDA | GO:0005813 | centrosome |
| CC | IBA | GO:0005814 | centriole |
| CC | IDA | GO:0005814 | centriole |
| CC | TAS | GO:0005829 | cytosol |
| CC | IEA | GO:0005929 | cilium |
| CC | IBA | GO:0031514 | motile cilium |
| MF | ND | GO:0003674 | molecular_function |
| MF | IPI | GO:0005515 | protein binding |
| MF | IBA | GO:0051393 | alpha-actinin binding |
Gene expression in normal tissue: ALMS1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ALMS1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1640170 | Cell Cycle |
| reactome | R-HSA-1852241 | Organelle biogenesis and maintenance |
| reactome | R-HSA-2565942 | Regulation of PLK1 Activity at G2/M Transition |
| reactome | R-HSA-380259 | Loss of Nlp from mitotic centrosomes |
| reactome | R-HSA-380270 | Recruitment of mitotic centrosome proteins and complexes |
| reactome | R-HSA-380284 | Loss of proteins required for interphase microtubule organization from the centrosome |
| reactome | R-HSA-380287 | Centrosome maturation |
| reactome | R-HSA-380320 | Recruitment of NuMA to mitotic centrosomes |
| reactome | R-HSA-453274 | Mitotic G2-G2/M phases |
| reactome | R-HSA-5617833 | Cilium Assembly |
| reactome | R-HSA-5620912 | Anchoring of the basal body to the plasma membrane |
| reactome | R-HSA-68877 | Mitotic Prometaphase |
| reactome | R-HSA-68886 | M Phase |
| reactome | R-HSA-69275 | G2/M Transition |
| reactome | R-HSA-69278 | Cell Cycle, Mitotic |
| reactome | R-HSA-8854518 | AURKA Activation by TPX2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ALMS1
CLASSFICATION
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