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].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
ALMS1, centrosome and basal body associated proteinMIM:606844Ensembl:ENSG00000116127HGNC:HGNC:428PA247212p13.1

Gene Categories:

TUMOR SUPPRESSOR

GO terms in ALMS1


Term TypeEvidence TypeGO Term IDGO Des.
BPTASGO:0000086G2/M transition of mitotic cell cycle
BPTASGO:0010389regulation of G2/M transition of mitotic cell cycle
BPIMPGO:0016197endosomal transport
BPIMPGO:0051492regulation of stress fiber assembly
BPTASGO:0097711ciliary basal body-plasma membrane docking
CCIEAGO:0000922spindle pole
CCIDAGO:0005813centrosome
CCIBAGO:0005814centriole
CCIDAGO:0005814centriole
CCTASGO:0005829cytosol
CCIEAGO:0005929cilium
CCIBAGO:0031514motile cilium
MFNDGO:0003674molecular_function
MFIPIGO:0005515protein binding
MFIBAGO:0051393alpha-actinin binding

Gene expression in normal tissue: ALMS1

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in ALMS1


DatabasePathway IDPathway Des.
reactomeR-HSA-1640170Cell Cycle
reactomeR-HSA-1852241Organelle biogenesis and maintenance
reactomeR-HSA-2565942Regulation of PLK1 Activity at G2/M Transition
reactomeR-HSA-380259Loss of Nlp from mitotic centrosomes
reactomeR-HSA-380270Recruitment of mitotic centrosome proteins and complexes
reactomeR-HSA-380284Loss of proteins required for interphase microtubule organization from the centrosome
reactomeR-HSA-380287Centrosome maturation
reactomeR-HSA-380320Recruitment of NuMA to mitotic centrosomes
reactomeR-HSA-453274Mitotic G2-G2/M phases
reactomeR-HSA-5617833Cilium Assembly
reactomeR-HSA-5620912Anchoring of the basal body to the plasma membrane
reactomeR-HSA-68877Mitotic Prometaphase
reactomeR-HSA-68886M Phase
reactomeR-HSA-69275G2/M Transition
reactomeR-HSA-69278Cell Cycle, Mitotic
reactomeR-HSA-8854518AURKA Activation by TPX2

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD353PD03259011

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in ALMS1

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