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

Gene ID: 236266, updated on 21-May-2024

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
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Genomic context

See Alms1 in Genome Data Viewer
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_000072.7Genomic Context describing neighboring genes Neighboring gene F-box protein 41 Neighboring gene early growth response 4 Neighboring gene STARR-seq mESC enhancer starr_16505 Neighboring gene STARR-seq mESC enhancer starr_16506 Neighboring gene N-acetyltransferase 8 (GCN5-related) family member 7 Neighboring gene ALMS1, centrosome and basal body associated, pseudogene 1 Neighboring gene STARR-seq mESC enhancer starr_16507 Neighboring gene N-acetyltransferase 8 (GCN5-related) family member 3 Neighboring gene microRNA 6375

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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)

  1. NM_145223.2NP_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:31263247
    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

  1. NC_000072.7 Reference GRCm39 C57BL/6J

    Range
    85564482..85698973
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (2) summary
    pfam15309
    Location:35943673
    ALMS_motif; ALMS motif
    pfam18727
    Location:12471293
    ALMS_repeat; Alstrom syndrome repeat
  2. XM_006506050.4XP_006506113.1  centrosome-associated protein ALMS1 isoform X1

    UniProtKB/TrEMBL
    A0A1D5RMI8
    Related
    ENSMUSP00000148796.2, ENSMUST00000213058.2
    Conserved Domains (2) summary
    pfam15309
    Location:35943715
    ALMS_motif; ALMS motif
    pfam18727
    Location:12471293
    ALMS_repeat; Alstrom syndrome repeat

RNA

  1. XR_001785126.3 RNA Sequence

  2. XR_377445.5 RNA Sequence