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
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:85587531-85702753 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 37.48 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    326 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 Chr6:85587499-85726611 (.)
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
    7
  • Human Ortholog
    ALMS1, ALMS1, centrosome and basal body associated protein
    Orthology source: HGNC, HomoloGene
  • 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 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
    51 phenotypes from 8 alleles in 8 genetic backgrounds
    3 images
    25 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
less
  • 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 population 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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    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
    Molecular
    Reagents
    less
    • All nucleic 9
      cDNA 5
      Primer pair 4

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:3584376
    References
    more
    • Summaries
      All 48
      Developmental Gene Expression 5
      Diseases 7
      Gene Ontology 10
      Phenotypes 25
    • 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:257881 Sahoo SS, et al., Adipose-Derived VEGF-mTOR Signaling Promotes Endometrial Hyperplasia and Cancer: Implications for Obese Women. Mol Cancer Res. 2018 Feb;16(2):309-321

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.
    last database update
    12/04/2018
    MGI 6.13
    The Jackson Laboratory