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Alms1 Gene Detail
Summary
  • Symbol
    Alms1
  • Name
    ALMS1, centrosome and basal body associated
  • Synonyms
    Alstrom syndrome 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1934606
    NCBI Gene: 236266
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr6:85587531-85702753 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      115223 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 37.48 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    ALMS1, ALMS1, centrosome and basal body associated protein
  • Vertebrate Orthologs
    7
  • Human Ortholog
    ALMS1, ALMS1, centrosome and basal body associated protein
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ALSS
  • Links
    NCBI Gene ID: 7840
    neXtProt AC: NX_Q8TCU4
    UniProt: Q8TCU4

  • Chr Location
    2p13.1; chr2:73385758-73609919 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with Alms1 mouse models; 1 with human ALMS1 associations

Human Disease Mouse Models
      
IDs
View 4 models
      
IDs
View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    48 phenotypes from 6 alleles in 6 genetic backgrounds
    3 images
    22 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygous null mice display obesity starting after puberty, hypogonadism, hyperinsulinemia, male-specific hyperglycemia, retinal dysfunction, and late-onset hearing loss.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000024144 VEGA Gene Model | MGI Sequence Detail 115223 C57BL/6J ±  kb
    transcript OTTMUST00000151456 VEGA | MGI Sequence Detail 11163 Not Applicable  
    polypeptide OTTMUSP00000078543 VEGA | MGI Sequence Detail 3720 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      326 from dbSNP Build 142
    Molecular
    Reagents
    less
    • All nucleic 9
      cDNA 5
      Primer pair 4

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:3584376
    References
    more
    • Summaries
      All 45
      Developmental Gene Expression 5
      Diseases 5
      Gene Ontology 9
      Phenotypes 22
    • Earliest
      J:78051 Collin GB, et al., Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome. Nat Genet. 2002 May;31(1):74-8
    • Latest
      J:250512 Li J, et al., CITGeneDB: a comprehensive database of human and mouse genes enhancing or suppressing cold-induced thermogenesis validated by perturbation experiments in mice. Database (Oxford). 2017;

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    07/31/2018
    MGI 6.12
    The Jackson Laboratory