ALMS1

Gene Name		Alstrom syndrome 1
Image		No pdb structure
Gene Ontology Annotations	Cellular Component	Spindle Pole Nucleus Nucleoplasm Cytoplasm Centrosome Centriole Cytosol Cilium
	Molecular Function	Molecular_function Protein Binding
	Biological Process	G2/M Transition Of Mitotic Cell Cycle Mitotic Cell Cycle Organelle Organization Endosomal Transport Regulation Of Stress Fiber Assembly
Pathways		Organelle biogenesis and maintenance Loss of proteins required for interphase microtubule organizationÂ from the centrosome Loss of Nlp from mitotic centrosomes G2/M Transition Assembly of the primary cilium Centrosome maturation Regulation of PLK1 Activity at G2/M Transition Mitotic G2-G2/M phases Anchoring of the basal body to the plasma membrane Recruitment of mitotic centrosome proteins and complexes Cell Cycle, Mitotic
Drugs
Diseases
GWAS		Chronic kidney disease ( 20383146) Creatinine levels ( 20383145) Metabolite levels ( 21931564)
Protein-protein Interactions		2 interactors: LIG4 MEGF10
Entrez ID		7840
HPRD ID		06023
Ensembl ID		ENSG00000116127
Uniprot IDs		Q8TCU4
PDB IDs
Enriched GO Terms of Interacting Partners?		Skeletal Muscle Satellite Cell Proliferation DNA Ligation Involved In DNA Recombination Skeletal Muscle Satellite Cell Activation Skeletal Muscle Cell Proliferation Homotypic Cell-cell Adhesion Lagging Strand Elongation Pro-B Cell Differentiation Single Organismal Cell-cell Adhesion Skeletal Muscle Satellite Cell Differentiation Recognition Of Apoptotic Cell Establishment Of Integrated Proviral Latency Establishment Of Viral Latency Immunoglobulin V(D)J Recombination DNA Ligation Involved In DNA Repair T Cell Receptor V(D)J Recombination Cell Activation Cell Proliferation Lymphoid Progenitor Cell Differentiation DNA Ligation Nucleotide-excision Repair, DNA Gap Filling Phagocytosis, Recognition Cellular Response To Lithium Ion Single Strand Break Repair Double-strand Break Repair Via Nonhomologous End Joining Isotype Switching V(D)J Recombination DNA Strand Elongation Involved In DNA Replication Response To Lithium Ion DNA Strand Elongation Cell Adhesion Response To X-ray Apoptotic Cell Clearance Somatic Recombination Of Immunoglobulin Gene Segments Somatic Diversification Of Immunoglobulins Immunoglobulin Production Involved In Immunoglobulin Mediated Immune Response B Cell Activation Involved In Immune Response Response To Gamma Radiation Regulation Of Cell Differentiation Neuron Apoptotic Process Skeletal Muscle Cell Differentiation Immunoglobulin Production Positive Regulation Of Fibroblast Proliferation Neuron Death T Cell Differentiation In Thymus Regulation Of Skeletal Muscle Tissue Development Somatic Stem Cell Maintenance Cell Development Nucleotide-excision Repair Regulation Of Fibroblast Proliferation DNA-dependent DNA Replication
Tagcloud ?		adipocytes adipogenic adipose alstrom c57bl6 ciliopathy compensatory depots dysregulation ei enlarged expand explanation glut4 hyperinsulinemia hypertrophic interesting intolerance lipogenesis lipogenic littermates metabolic recessive reside sign slc4a2 trafficking transporter wildtype