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MGI:Alms1

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Contents

Species (Taxon ID) Mus musculus (house mouse) (taxon:10090)
Gene Name(s) Alms1
Protein Name(s) Alstrom syndrome 1 homolog (human),
External Links
MGI MGI:1934606

Annotations

Qualifier GO ID GO term name Reference Evidence Code with/from Aspect Notes Status
GO:0001678

cellular glucose homeostasis

MGI:MGI:2183185
PMID:11941369[1]

ISO: Inferred from Sequence Orthology

EMBL:AJ417593

P

From MGI

GO:0001736

establishment of planar polarity

MGI:MGI:4867594
PMID:21071598[2]

IMP: Inferred from Mutant Phenotype

MGI:MGI:3576051

P

From MGI

GO:0003674

molecular function

MGI:MGI:2156816

ND: No biological Data available

F

From MGI

GO:0005622

intracellular

MGI:MGI:3698928
PMID:17206865[3]

IMP: Inferred from Mutant Phenotype

C

From MGI

GO:0005737

cytoplasm

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:B8ZZJ3

C

From MGI

GO:0005813

centrosome

MGI:MGI:2154458

ISO: Inferred from Sequence Orthology

UniProtKB:Q8TCU4

C

From MGI

GO:0005856

cytoskeleton

MGI:MGI:1354194

IEA: Inferred from Electronic Annotation

UniProtKB-KW:KW-0206

C

From MGI

GO:0005929

cilium

MGI:MGI:1354194

IEA: Inferred from Electronic Annotation

UniProtKB-KW:KW-0969

C

From MGI

GO:0006629

lipid metabolic process

MGI:MGI:3588454
PMID:16000322[4]

IMP: Inferred from Mutant Phenotype

MGI:MGI:3576051

P

From MGI

GO:0006641

triglyceride metabolic process

MGI:MGI:3698928
PMID:17206865[3]

IMP: Inferred from Mutant Phenotype

MGI:MGI:3699224

P

From MGI

GO:0006915

apoptotic process

MGI:MGI:3698928
PMID:17206865[3]

IMP: Inferred from Mutant Phenotype

MGI:MGI:3699224

P

From MGI

GO:0007286

spermatid development

MGI:MGI:3639060
PMID:16513793[5]

IMP: Inferred from Mutant Phenotype

MGI:MGI:3621984

P

From MGI

GO:0007286

spermatid development

MGI:MGI:3698928
PMID:17206865[3]

IMP: Inferred from Mutant Phenotype

MGI:MGI:3699224

P

From MGI

GO:0007605

sensory perception of sound

MGI:MGI:3588454
PMID:16000322[4]

IMP: Inferred from Mutant Phenotype

MGI:MGI:3576051

P

From MGI

GO:0007605

sensory perception of sound

MGI:MGI:3639060
PMID:16513793[5]

IMP: Inferred from Mutant Phenotype

MGI:MGI:3621984

P

From MGI

GO:0007605

sensory perception of sound

MGI:MGI:4867594
PMID:21071598[2]

IMP: Inferred from Mutant Phenotype

MGI:MGI:3576051

P

From MGI

GO:0019722

calcium-mediated signaling

MGI:MGI:3698928
PMID:17206865[3]

IMP: Inferred from Mutant Phenotype

P

From MGI

GO:0030728

ovulation

MGI:MGI:3639060
PMID:16513793[5]

IMP: Inferred from Mutant Phenotype

MGI:MGI:3621984

P

From MGI

GO:0036064

cilium basal body

MGI:MGI:2154458

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:D4AAN1

C

From MGI

GO:0040015

negative regulation of multicellular organism growth

MGI:MGI:3639060
PMID:16513793[5]

IMP: Inferred from Mutant Phenotype

MGI:MGI:3621984

P

From MGI

GO:0042384

cilium assembly

MGI:MGI:3698928
PMID:17206865[3]

IMP: Inferred from Mutant Phenotype

P

From MGI

GO:0042384

cilium assembly

MGI:MGI:3698928
PMID:17206865[3]

IMP: Inferred from Mutant Phenotype

MGI:MGI:3699224

P

From MGI

GO:0042593

glucose homeostasis

MGI:MGI:3588454
PMID:16000322[4]

IMP: Inferred from Mutant Phenotype

MGI:MGI:3576051

P

From MGI

GO:0042593

glucose homeostasis

MGI:MGI:3639060
PMID:16513793[5]

IMP: Inferred from Mutant Phenotype

MGI:MGI:3621984

P

From MGI

GO:0042632

cholesterol homeostasis

MGI:MGI:3698928
PMID:17206865[3]

IMP: Inferred from Mutant Phenotype

MGI:MGI:3699224

P

From MGI

GO:0042995

cell projection

MGI:MGI:1354194

IEA: Inferred from Electronic Annotation

UniProtKB-KW:KW-0966

C

From MGI

GO:0045444

fat cell differentiation

MGI:MGI:3698928
PMID:17206865[3]

IMP: Inferred from Mutant Phenotype

MGI:MGI:3699224

P

From MGI

GO:0045598

regulation of fat cell differentiation

MGI:MGI:3588454
PMID:16000322[4]

IMP: Inferred from Mutant Phenotype

MGI:MGI:3576051

P

From MGI

GO:0046548

retinal rod cell development

MGI:MGI:3588454
PMID:16000322[4]

IMP: Inferred from Mutant Phenotype

MGI:MGI:3576051

P

From MGI

GO:0048589

developmental growth

MGI:MGI:3698928
PMID:17206865[3]

IMP: Inferred from Mutant Phenotype

MGI:MGI:3699224

P

From MGI

GO:0050673

epithelial cell proliferation

MGI:MGI:3698928
PMID:17206865[3]

IMP: Inferred from Mutant Phenotype

MGI:MGI:3699224

P

From MGI

GO:0060122

inner ear receptor stereocilium organization

MGI:MGI:4867594
PMID:21071598[2]

IMP: Inferred from Mutant Phenotype

MGI:MGI:3576051

P

From MGI


Notes

References

See Help:References for how to manage references in GONUTS.
  1. Collin GB et al. (2002) Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome. Nat Genet 31: 74-8 PubMed GONUTS page
  2. 2.0 2.1 2.2 Jagger D et al. (2011) Alström Syndrome protein ALMS1 localizes to basal bodies of cochlear hair cells and regulates cilium-dependent planar cell polarity. Hum Mol Genet 20: 466-81 PubMed GONUTS page
  3. 3.00 3.01 3.02 3.03 3.04 3.05 3.06 3.07 3.08 3.09 3.10 Li G et al. (2007) A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence. PLoS Genet 3: e8 PubMed GONUTS page
  4. 4.0 4.1 4.2 4.3 4.4 Collin GB et al. (2005) Alms1-disrupted mice recapitulate human Alström syndrome. Hum Mol Genet 14: 2323-33 PubMed GONUTS page
  5. 5.0 5.1 5.2 5.3 5.4 Arsov T et al. (2006) Fat aussie--a new Alström syndrome mouse showing a critical role for ALMS1 in obesity, diabetes, and spermatogenesis. Mol Endocrinol 20: 1610-22 PubMed GONUTS page
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