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

    Gene ID: 236266, updated on 19-Mar-2019

    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
    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
    Expression
    Broad expression in testis adult (RPKM 5.1), cerebellum adult (RPKM 2.7) and 18 other tissues See more
    Orthologs

    Genomic context

    See Alms1 in Genome Data Viewer
    Location:
    6; 6 C3
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 6 NC_000072.6 (85587499..85726611)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 6 NC_000072.5 (85537525..85652745)

    Chromosome 6 - NC_000072.6Genomic Context describing neighboring genes Neighboring gene F-box protein 41 Neighboring gene early growth response 4 Neighboring gene N-acetyltransferase 8 (GCN5-related) family member 7 Neighboring gene ALMS1, centrosome and basal body associated, pseudogene 1 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 FunctionsWhat's a GeneRIF?

    Variation

    Alleles

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

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    alpha-actinin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    alpha-actinin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    calcium-mediated signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular glucose homeostasis ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    cholesterol homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    endosomal transport ISO
    Inferred from Sequence Orthology
    more info
     
    epithelial cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    establishment of planar polarity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    glucose homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    inner ear receptor cell stereocilium organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    lipid metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of multicellular organism growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ovulation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of centriole replication IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of fat cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of stress fiber assembly ISO
    Inferred from Sequence Orthology
    more info
     
    retinal rod cell development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    spermatid development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    centriole IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    centriole ISO
    Inferred from Sequence Orthology
    more info
     
    colocalizes_with centriole ISO
    Inferred from Sequence Orthology
    more info
     
    centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    centrosome ISO
    Inferred from Sequence Orthology
    more info
     
    ciliary basal body ISO
    Inferred from Sequence Orthology
    more info
     
    cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytosol ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    Alstrom syndrome protein 1 homolog
    Names
    Alstrom syndrome 1 homolog

    NCBI Reference Sequences (RefSeq)

    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  Alstrom syndrome protein 1 homolog

      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
      Q8K4E0
      Related
      ENSMUSP00000071904.5, ENSMUST00000072018.5
      Conserved Domains (1) summary
      pfam15309
      Location:31263247
      ALMS_motif; ALMS motif

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000072.6 Reference GRCm38.p4 C57BL/6J

      Range
      85587499..85726611
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006506052.3XP_006506115.1  Alstrom syndrome protein 1 homolog isoform X4

      Conserved Domains (1) summary
      pfam15309
      Location:35433654
      ALMS_motif; ALMS motif
    2. XM_006506049.3XP_006506112.1  Alstrom syndrome protein 1 homolog isoform X1

      Conserved Domains (1) summary
      pfam15309
      Location:35953706
      ALMS_motif; ALMS motif
    3. XM_006506051.3XP_006506114.1  Alstrom syndrome protein 1 homolog isoform X3

      Conserved Domains (1) summary
      pfam15309
      Location:35623673
      ALMS_motif; ALMS motif
    4. XM_006506053.3XP_006506116.1  Alstrom syndrome protein 1 homolog isoform X5

      Conserved Domains (1) summary
      pfam15309
      Location:35953673
      ALMS_motif; ALMS motif
    5. XM_006506050.3XP_006506113.1  Alstrom syndrome protein 1 homolog isoform X2

      UniProtKB/TrEMBL
      A0A1D5RMI8
      Related
      ENSMUSP00000148796.1, ENSMUST00000213058.1
      Conserved Domains (1) summary
      pfam15309
      Location:35953716
      ALMS_motif; ALMS motif
    6. XM_006506054.3XP_006506117.1  Alstrom syndrome protein 1 homolog isoform X6

      Conserved Domains (1) summary
      pfam15309
      Location:31263237
      ALMS_motif; ALMS motif

    RNA

    1. XR_001785126.1 RNA Sequence

    2. XR_377445.3 RNA Sequence

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