Alms1 Gene Summary [Mouse]
Enables alpha-actinin binding activity. Involved in positive regulation of cold-induced thermogenesis. Acts upstream of or within several processes, including cholesterol homeostasis; neuron development; and ovulation. Predicted to be located in ciliary basal body. Predicted to be active in centriole; centrosome; and cytosol. Is expressed in several structures, including aorta; central nervous system; genitourinary system; gut; and sensory organ. Used to study Alstrom syndrome and obesity. Human ortholog(s) of this gene implicated in Alstrom syndrome. Orthologous to human ALMS1 (ALMS1 centrosome and basal body associated protein). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Alms1 |
| Official Name | ALMS1, centrosome and basal body associated [Source:MGI Symbol;Acc:MGI:1934606] |
| Ensembl ID | ENSMUSG00000063810 |
| Bio databases IDs | |
| Aliases | ALMS1, centrosome and basal body associated |
| Synonyms | ALMS1, centrosome and basal body associated, ALMS1 centrosome and basal body associated protein, ALMS1, centrosome and basal body associated protein, ALSS, Alstrom syndrome protein 1, bbb |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Alms1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Alstrom syndrome repeat
- actinin binding
- ALMS motif
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
regulates
- D-glucose
- Ca2+
- lipid
- cholesterol
- PTEN
disease
- non-insulin-dependent diabetes mellitus
- schizophrenia
- epithelial cancer
- Alström syndrome
- retinal dystrophy
- retinitis pigmentosa
- Leber congenital amaurosis type 1
- mental retardation
- cervical carcinoma
- epithelial uterine cancer
phenotypes
- abnormal locomotor behavior
- decreased eosinophil cell number
- abnormal circulating cholesterol level
- abnormal eye electrophysiology
- abnormal eye physiology
- abnormal hepatocyte morphology
- abnormal proximal convoluted tubule morphology
- abnormal renal tubule epithelial cell primary cilium morphology
- abnormal retinal outer nuclear layer morphology
- abnormal seminiferous tubule morphology
- abnormal spermatogenesis
- albuminuria
- crystalluria
- degranulated pancreatic beta cells
- dilated proximal convoluted tubules
- dilated renal tubules
- enlarged kidney
- enlarged liver
- hepatic steatosis
- hyperglycemia
- impaired glucose tolerance
- impaired hearing
- increased body size
- increased body weight
- increased circulating HDL cholesterol level
- increased circulating cholesterol level
- increased circulating insulin level
- increased circulating leptin level
- increased circulating triglyceride level
- increased fasting circulating glucose level
- increased fat cell size
- increased food intake
- increased kidney apoptosis
- increased kidney cell proliferation
- increased kidney weight
- increased liver weight
- increased or absent threshold for auditory brainstem response
- increased susceptibility to weight gain
- increased total body fat amount
- increased urine protein level
- increased white adipose tissue amount
- insulin resistance
- liver fibrosis
- macrovesicular hepatic steatosis
- microvesicular hepatic steatosis
- obese
- pancreatic islet hyperplasia
- retinal degeneration
- retinal outer nuclear layer degeneration
- retinal photoreceptor degeneration
- retinal pigment epithelium atrophy
- seminiferous tubule degeneration
- small gonad
- tubulointerstitial nephritis
role in cell
- differentiation
- expression in
- proliferation
- apoptosis
- formation
- morphology
- endocytosis by
- assembly
- development
- organization
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- microtubule cytoskeleton
- basal bodies
- centrosome
- centriole
- Mitochondria
- cytosol
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Alms1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- endosomal transport
- regulation of stress fiber assembly
- regulation of centriole replication
Cellular Component
Where in the cell the gene product is active
- centrosome
- centriole
- cilium
- spindle pole
- cytosol
Molecular Function
What the gene product does at the molecular level
- microtubule binding