Alms1 ALMS1, centrosome and basal body associated [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Alms1provided by MGI
Official Full Name: ALMS1, centrosome and basal body associatedprovided by MGI
Primary source: MGI:MGI:1934606
See related: Ensembl:ENSMUSG00000063810 AllianceGenome:MGI:1934606
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: bbb
Summary: Enables alpha-actinin binding activity. Involved in positive regulation of cold-induced thermogenesis. Acts upstream of or within several processes, including cholesterol homeostasis; gamete generation; and neuron development. 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 2022]
Expression: Broad expression in testis adult (RPKM 5.1), cerebellum adult (RPKM 2.7) and 18 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 C3; 6 37.48 cM

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (85564482..85698973)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (85587498..85726611)

Chromosome 6 - NC_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

LHCGR and ALMS1 defects likely cooperate in the development of polycystic ovary syndrome indicated by double-mutant mice.
Title: LHCGR and ALMS1 defects likely cooperate in the development of polycystic ovary syndrome indicated by double-mutant mice.
GLUT4 defects in adipose tissue are early signs of metabolic alterations in Alms1-deficient mice, a mouse model for obesity and insulin resistance.
Title: GLUT4 defects in adipose tissue are early signs of metabolic alterations in Alms1GT/GT, a mouse model for obesity and insulin resistance.
Data conclude that deficiency of Alstrom protein impairs postnatal cardiomyocyte cell cycle arrest.
Title: Mutations in Alström protein impair terminal differentiation of cardiomyocytes.
This study demonitrated that Alms1 localizes at the base of cilia in hypothalamic neurons and Alms1 is lost from this location in foz/foz mice.
Title: A truncating mutation of Alms1 reduces the number of hypothalamic neuronal cilia in obese mice.
a role for ALMS1 variants in the recycling endosome pathway
Title: The Alström syndrome protein, ALMS1, interacts with α-actinin and components of the endosome recycling pathway.
investigated the role of ALMS1 in the cochlea and the pathogenesis of hearing loss in Alstrom Syndrome
Title: Alström Syndrome protein ALMS1 localizes to basal bodies of cochlear hair cells and regulates cilium-dependent planar cell polarity.
In this model of metabolic syndrome, transition of steatosis to steatohepatitis was associated with hypoadiponectinemia, a mediator of hepatic fatty acid disposal pathways.
Title: Adaptive failure to high-fat diet characterizes steatohepatitis in Alms1 mutant mice.
In vitro knockdown of Alms1 in mice causes stunted cilia on kidney epithelial cells and prevents these cells from increasing calcium influx in response to mechanical stimuli.
Title: A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence.
Disruption in ALMS1 manifests human Alstrom syndrome
Title: Alms1-disrupted mice recapitulate human Alström syndrome.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (9) 1 citation
Endonuclease-mediated (2)
Gene trapped (1) 1 citation
Spontaneous (1) 1 citation
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Alms1 (e-PCR), detects polymorphism
- UniSTS:472880

Alms1 (e-PCR), detects polymorphism
- UniSTS:472881

NoName (e-PCR)
- UniSTS:235480

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables alpha-actinin binding	IPI Inferred from Physical Interaction more info	PubMed
enables microtubule binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within calcium-mediated signaling	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cholesterol homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within endosomal transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of epithelial cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within epithelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within establishment of planar polarity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glucose homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inner ear receptor cell stereocilium organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within intracellular glucose homeostasis	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within lipid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of epithelial cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ovulation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cold-induced thermogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of endocytosis	ISO Inferred from Sequence Orthology more info
involved_in regulation of centriole replication	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of fat cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of stress fiber assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within retina development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retinal rod cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spermatid development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in centriole	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with centriole	ISO Inferred from Sequence Orthology more info
located_in centriole	ISO Inferred from Sequence Orthology more info
is_active_in centrosome	IBA Inferred from Biological aspect of Ancestor more info
located_in centrosome	ISO Inferred from Sequence Orthology more info
located_in ciliary basal body	ISO Inferred from Sequence Orthology more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: centrosome-associated protein ALMS1

Names: Alstrom syndrome 1 homolog; alstrom syndrome protein 1 homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_145223.2 → NP_660258.2 centrosome-associated protein ALMS1

See identical proteins and their annotated locations for NP_660258.2

Status: VALIDATED

Source sequence(s)

AC104743, AF425257, BM942574, DV650553

Consensus CDS

CCDS20298.1

UniProtKB/Swiss-Prot

E9QKT8, Q6A084, Q8C9N9, Q8K4E0

Related

ENSMUSP00000071904.6, ENSMUST00000072018.6

Conserved Domains (1) summary

pfam15309
Location:3126 → 3247

ALMS_motif; ALMS motif

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000072.7 Reference GRCm39 C57BL/6J

Range

85564482..85698973

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006506053.5 → XP_006506116.1 centrosome-associated protein ALMS1 isoform X2

Conserved Domains (2) summary

pfam15309
Location:3594 → 3673

ALMS_motif; ALMS motif

pfam18727
Location:1247 → 1293

ALMS_repeat; Alstrom syndrome repeat
XM_006506050.4 → XP_006506113.1 centrosome-associated protein ALMS1 isoform X1

UniProtKB/TrEMBL

A0A1D5RMI8

Related

ENSMUSP00000148796.2, ENSMUST00000213058.2

Conserved Domains (2) summary

pfam15309
Location:3594 → 3715

ALMS_motif; ALMS motif

pfam18727
Location:1247 → 1293

ALMS_repeat; Alstrom syndrome repeat