About   Help   FAQ
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
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:85564513-85679735 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 37.48 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    1671 from dbSNP Build 142
  • Strain Annotations
    12
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1934606
 protein coding gene Chr6:85564482-85698973 (+)
129S1/SvImJ no annotation
A/J no annotation
AKR/J MGP_AKRJ_G0030855
 protein coding gene Chr6:85885127-86106291 (+)
BALB/cJ no annotation
C3H/HeJ MGP_C3HHeJ_G0030771
 protein coding gene Chr6:98341768-98567248 (-)
C57BL/6NJ MGP_C57BL6NJ_G0031397
 protein coding gene Chr6:89147916-89399638 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0028582
 protein coding gene Chr6:81734738-81804925 (+)
CAST/EiJ MGP_CASTEiJ_G0030046
 protein coding gene Chr6:85895193-86132613 (+)
CBA/J MGP_CBAJ_G0030624
 protein coding gene Chr6:92640207-92847653 (+)
DBA/2J no annotation
FVB/NJ no annotation
LP/J MGP_LPJ_G0030856
 protein coding gene Chr6:86754292-86992966 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0030766
 protein coding gene Chr6:96850208-96955349 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0031421
 protein coding gene Chr6:85688484-85813536 (+)
PWK/PhJ no annotation
SPRET/EiJ MGP_SPRETEiJ_G0029589
 protein coding gene Chr6:84538052-84782876 (+)
WSB/EiJ MGP_WSBEiJ_G0030127
 protein coding gene Chr6:86132657-86377728 (+)



Homology
more
  • Human Ortholog
    ALMS1, ALMS1 centrosome and basal body associated protein
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ALMS1, ALMS1 centrosome and basal body associated protein
  • Synonyms
    ALSS
  • Links
    NCBI Gene ID: 7840
    neXtProt AC: NX_Q8TCU4
    UniProt: Q8TCU4

  • Chr Location
    2p13.1; chr2:73385758-73625166 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Alms1 mouse models; 1 with human ALMS1 associations

Human Disease Mouse Models
      
IDs
 View 6 models
      
IDs
 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    7 with disease annotations
  • References
    7 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    55 phenotypes from 12 alleles in 12 genetic backgrounds
    3 images
    49 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
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
less
  • All GO Annotations
    46
  • GO References
    14
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    808
  • Tissues
    55
  • cDNA Data
    5
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000063810 Ensembl Gene Model | MGI Sequence Detail 115223 C57BL/6J ±  kb
    transcript ENSMUST00000213058 Ensembl | MGI Sequence Detail 11163 Not Applicable  
    polypeptide ENSMUSP00000148796 Ensembl | MGI Sequence Detail 3720 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 9
      cDNA 5
      Primer pair 4

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:3584376
    References
    more
    • Summaries
      All 77
      Developmental Gene Expression 6
      Diseases 7
      Gene Ontology 14
      Phenotypes 49
    • 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:353923 Ganguly S, et al., Lipid-associated macrophages' promotion of fibrosis resolution during MASH regression requires TREM2. Proc Natl Acad Sci U S A. 2024 Aug 27;121(35):e2405746121
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory