ENSMUSG00000063810


Mus musculus

Features
Gene ID: ENSMUSG00000063810
  
Biological name :Alms1
  
Synonyms : Alms1 / Alstrom syndrome / Q8K4E0
  
Possible biological names infered from orthology : ALMS1, centrosome and basal body associated protein
  
Species: Mus musculus
  
Chr. number: 6
Strand: 1
Band: C3
Gene start: 85587531
Gene end: 85702753
  
Corresponding Affymetrix probe sets: 10539617 (MoGene1.0st)   10539632 (MoGene1.0st)   10539640 (MoGene1.0st)   1456950_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000071904
Ensembl peptide - ENSMUSP00000148796
NCBI entrez gene - 236266     See in Manteia.
MGI - MGI:1934606
RefSeq - XM_006506054
RefSeq - NM_145223
RefSeq - XM_006506051
RefSeq - XM_006506052
RefSeq - XM_006506053
RefSeq - XM_006506049
RefSeq - XM_006506050
RefSeq Peptide - NP_660258
swissprot - Q8K4E0
swissprot - A0A1D5RMI8
Ensembl - ENSMUSG00000063810
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 alms1ENSDARG00000074779Danio rerio
 ENSGALG00000044620Gallus gallus
 ALMS1ENSG00000116127Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
D2J0Y4 / D7Ertd443e / DNA segment, Chr 7, ERATO Doi 443, expressed / Q96M02* / C10orf90* / chromosome 10 open reading frame 90*ENSMUSG000000309943


Protein motifs (from Interpro)
Interpro ID Name
 IPR028781  Alstrom syndrome protein 1
 IPR029299  ALMS motif


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001678 cellular glucose homeostasis ISO
 biological_processGO:0001736 establishment of planar polarity IMP
 biological_processGO:0006629 lipid metabolic process IMP
 biological_processGO:0007286 spermatid development IMP
 biological_processGO:0007605 sensory perception of sound IMP
 biological_processGO:0016197 endosomal transport IEA
 biological_processGO:0019722 calcium-mediated signaling IMP
 biological_processGO:0030728 ovulation IMP
 biological_processGO:0040015 negative regulation of multicellular organism growth IMP
 biological_processGO:0042593 glucose homeostasis IMP
 biological_processGO:0042632 cholesterol homeostasis IMP
 biological_processGO:0043066 negative regulation of apoptotic process IMP
 biological_processGO:0045444 fat cell differentiation IMP
 biological_processGO:0045598 regulation of fat cell differentiation IMP
 biological_processGO:0046548 retinal rod cell development IMP
 biological_processGO:0050673 epithelial cell proliferation IMP
 biological_processGO:0051492 regulation of stress fiber assembly IEA
 biological_processGO:0060122 inner ear receptor cell stereocilium organization IMP
 biological_processGO:0060271 cilium assembly IMP
 cellular_componentGO:0000922 spindle pole IEA
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005813 centrosome ISO
 cellular_componentGO:0005814 centriole ISO
 cellular_componentGO:0005815 microtubule organizing center IEA
 cellular_componentGO:0005829 cytosol ISO
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0042995 cell projection IEA
 molecular_functionGO:0051393 alpha-actinin binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000008 increased white fat amount "increased quantity of fat-storing cells/tissue" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Edn3tmgc48/Edn3tmgc48
Genetic Background: C57BL/6-19PWK

 MP:0000180 abnormal circulating cholesterol level "anomalous concentration in the blood of these most abundant steroids in animal tissues, and precursors to steroid hormones and bile salts; also components of plasma membranes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: ApcMin/Apc+,Tg(CAG-PGDS)S-55Hjl/0
Genetic Background: involves: C57BL/6J * FVB/N

 MP:0000599 enlarged liver "larger than average size of the liver" [J:65146]
Show

Allelic Composition: Sp4tm2Krc/Sp4tm2Krc,Tg(Pax3-cre)1Joe/0
Genetic Background: involves: C57BL/6 * SJL

 MP:0000607 abnormal hepatocyte morphology "malformation of the main structural component of the liver; these are specialized epithelial cells normally organize into interconnected plates called lobules" [J:23170, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Sp4tm2Krc/Sp4tm2Krc,Tg(Pax3-cre)1Joe/0
Genetic Background: involves: C57BL/6 * SJL

 MP:0001116 small gonad "reduced size of the testis or the ovary" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:34193]
Show

Allelic Composition: Edn3tmgc48/Edn3tmgc48
Genetic Background: C57BL/6-19PWK

Allelic Composition: Alms1bbb/Alms1bbb
Genetic Background: C57BL/6JSfdAnu-Alms1bbb/Anu

 MP:0001154 seminiferous tubule degeneration "a retrogressive impairment of function or destruction of the tubules in the testes where spermatogenesis occurs" [J:50844]
Show

Allelic Composition: Alms1L2131X/Alms1L2131X
Genetic Background: involves: C57BL/6 * NOD

 MP:0001156 abnormal spermatogenesis "incomplete maturation or aberrant formation of the male gametes" [J:58959]
Show

Allelic Composition: ApcMin/Apc+,Tg(CAG-PGDS)S-55Hjl/0
Genetic Background: involves: C57BL/6J * FVB/N

 MP:0001260 increased body weight "greater than normal average weight " [J:33400]
Show

Allelic Composition: Edn3tmgc48/Edn3tmgc48
Genetic Background: C57BL/6-19PWK

Allelic Composition: Alms1m1Btlr/Alms1m1Btlr
Genetic Background: C57BL/6J-Alms1m1Btlr

 MP:0001261 obese "excessively fat; an increase in fat in the subcutaneous connective tissue" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
Show

Allelic Composition: Edn3tmgc48/Edn3tmgc48
Genetic Background: C57BL/6-19PWK

Allelic Composition: Alms1bbb/Alms1bbb
Genetic Background: C57BL/6JSfdAnu-Alms1bbb/Anu

Allelic Composition: Alms1tvrm102/Alms1tvrm102
Genetic Background: C57BL/6J-Alms1tvrm102/Pjn

Allelic Composition: Alms1tvrm102/Alms1Gt(XH152)Byg
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0001326 retinal degeneration "pathological change in the thin layer of neural tissue lining the back of the eyeball, which contains visual receptors and can result in the impairment or cessation of retinal neural function" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, NMF:Stephanie Pretel, Neuroscience Mutagenesis Facility Curator]
Show

Allelic Composition: Alms1tvrm102/Alms1tvrm102
Genetic Background: C57BL/6J-Alms1tvrm102/Pjn

 MP:0001552 increased circulating triglyceride level "higher than normal concentration of triacylglycerols in the blood" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:65416]
Show

Allelic Composition: Alms1L2131X/Alms1L2131X
Genetic Background: involves: C57BL/6 * NOD

 MP:0001556 increased circulating HDL cholesterol level "higher than average level of high density lipoprotein in the blood; this molecule transports cholesterol to the liver for excretion in bile" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:47439]
Show

Allelic Composition: Alms1L2131X/Alms1L2131X
Genetic Background: involves: C57BL/6 * NOD

 MP:0001559 hyperglycemia "abnormally high concentration of glucose in the blood; generally refers to a pathological state" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Edn3tmgc48/Edn3tmgc48
Genetic Background: C57BL/6-19PWK

Allelic Composition: Alms1bbb/Alms1bbb
Genetic Background: C57BL/6JSfdAnu-Alms1bbb/Anu

Allelic Composition: Alms1foz/Alms1foz
Genetic Background: involves: NOD

 MP:0002079 increased circulating insulin level "greater than normal levels of insulin in blood" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Edn3tmgc48/Edn3tmgc48
Genetic Background: C57BL/6-19PWK

Allelic Composition: Alms1bbb/Alms1bbb
Genetic Background: C57BL/6JSfdAnu-Alms1bbb/Anu

Allelic Composition: Alms1foz/Alms1foz
Genetic Background: involves: NOD

Allelic Composition: Alms1L2131X/Alms1L2131X
Genetic Background: involves: C57BL/6 * NOD

 MP:0002216 abnormal seminiferous tubule morphology "malformation of the tubules in the testes where spermatogenesis occurs" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Edn3tmgc48/Edn3tmgc48
Genetic Background: C57BL/6-19PWK

 MP:0002628 fatty liver "an accumulation of fat deposits in the liver " [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Edn3tmgc48/Edn3tmgc48
Genetic Background: C57BL/6-19PWK

Allelic Composition: Alms1foz/Alms1foz
Genetic Background: involves: NOD

Allelic Composition: Alms1L2131X/Alms1L2131X
Genetic Background: involves: C57BL/6 * NOD

 MP:0002705 dilated renal tubules "enlarged lumens of the loops of Henle and/or collecting ducts of the kidney" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Alms1L2131X/Alms1L2131X
Genetic Background: involves: C57BL/6 * NOD

 MP:0002871 albuminuria "presence of excess albumin in the urine" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Edn3tmgc48/Edn3tmgc48
Genetic Background: C57BL/6-19PWK

 MP:0002962 increased protein excretion "greater than the normal amount of serum proteins voided by the kidneys" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Alms1L2131X/Alms1L2131X
Genetic Background: involves: C57BL/6 * NOD

 MP:0002981 increased liver weight "a greater than average weight of the bile-secreting exocrine gland" [il:Ira Lu , Mouse Genome Informatics Curator]
Show

Allelic Composition: Edn3tmgc48/Edn3tmgc48
Genetic Background: C57BL/6-19PWK

Allelic Composition: Alms1foz/Alms1foz
Genetic Background: involves: NOD

 MP:0003068 enlarged kidney "larger than average size of the kidney" [J:86005, pvb:Pierre Vanden Borre, Mouse Genome Informatics Curator]
Show

Allelic Composition: Edn3tmgc48/Edn3tmgc48
Genetic Background: C57BL/6-19PWK

 MP:0003333 liver fibrosis "invasion of fibrous connective tissue into the liver, often resulting from inflammation or injury " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, ncbi:Matthew Mailman, NCBI request]
Show

Allelic Composition: Alms1foz/Alms1foz
Genetic Background: involves: NOD

 MP:0003731 abnormal outer nuclear layer morphology "malformation/anomalous structure of the retinal layer that contains the nuclei and cell bodies of rods and cones" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Edn3tmgc48/Edn3tmgc48
Genetic Background: C57BL/6-19PWK

 MP:0003917 increased kidney weight "greater heft of the organs responsible for urine secretion" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Edn3tmgc48/Edn3tmgc48
Genetic Background: C57BL/6-19PWK

 MP:0004756 abnormal proximal convoluted tubule morphology "any structural anomaly of the convoluted portion of the duct system of the nephron that extends from the renal glomeurlar capsule in the kidney cortex into the kidney medulla where it joins the loop of Henle; fluid entering the proximal convoluted tubule is reabsorbed into the peritubular capillaries, including approximately two-thirds of the filtered salt and water and all filtered organic solutes" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Alms1L2131X/Alms1L2131X
Genetic Background: involves: C57BL/6 * NOD

 MP:0005178 increased total circulating cholesterol level "greater than the normal concentration in the blood of these most abundant steroids in animal tissues, and precursors to steroid hormones and bile salts; also components of plasma membranes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Edn3tmgc48/Edn3tmgc48
Genetic Background: C57BL/6-19PWK

 MP:0005253 abnormal eye physiology "anomalous function and/or activity of the ocular system or any of its parts" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Alms1bbb/Alms1bbb
Genetic Background: C57BL/6JSfdAnu-Alms1bbb/Anu

Allelic Composition: Alms1L2131X/Alms1L2131X
Genetic Background: involves: C57BL/6 * NOD

 MP:0005331 insulin resistance "diminished effectiveness of insulin in lowering plasma glucose levels" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:84260, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Alms1foz/Alms1foz
Genetic Background: involves: NOD

 MP:0005455 increased weight gain "greater increase in body weight over existing weight when compared to the average increase in weight on the same diet, with equal energy (calorie) intake " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:42702]
Show

Allelic Composition: Alms1L2131X/Alms1L2131X
Genetic Background: involves: C57BL/6 * NOD

 MP:0005491 islet cell hyperplasia "increased numbers cells within the structures that are scattered throughout the pancreas and comprise its endocrine portion" [J:48446, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Edn3tmgc48/Edn3tmgc48
Genetic Background: C57BL/6-19PWK

 MP:0005548 retinal pigment epithelium atrophy "wasting or decreased size of the epithelial layer of the retina composed of cells containing pigment granules " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Alms1tvrm102/Alms1tvrm102
Genetic Background: C57BL/6J-Alms1tvrm102/Pjn

 MP:0005551 abnormal eye electrophysiology "abnormal function of the eye as determined through electrophysiological recordings from single cells or summary recordings from multiple cells (e.g. electroretinogram)" [NMF:Stephanie Pretel, Neuroscience Mutagenesis Facility Curator]
Show

Allelic Composition: Edn3tmgc48/Edn3tmgc48
Genetic Background: C57BL/6-19PWK

 MP:0005669 increased circulating leptin level "greater than the normal blood concentration of the peptide hormone secreted by white adipocytes and believed to regulate food intake and energy balance" [MeSH:National Library of Medicine - Medical Subject Headings, 2003, J:34751]
Show

Allelic Composition: Alms1L2131X/Alms1L2131X
Genetic Background: involves: C57BL/6 * NOD

 MP:0006094 adipocyte hypertrophy "increase in the size of fat cells" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:90802]
Show

Allelic Composition: Alms1L2131X/Alms1L2131X
Genetic Background: involves: C57BL/6 * NOD

 MP:0006325 impaired hearing "reduced ability to percieve auditory stimuli" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Alms1bbb/Alms1bbb
Genetic Background: C57BL/6JSfdAnu-Alms1bbb/Anu

 MP:0008450 retinal photoreceptor degeneration "a retrogressive impairment of function or destruction of a cell specialized to detect and transduce light, including rods and cones of the retina" [MESH:A08.663.650.650, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Alms1tvrm102/Alms1tvrm102
Genetic Background: C57BL/6J-Alms1tvrm102/Pjn

Allelic Composition: Alms1tvrm102/Alms1Gt(XH152)Byg
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0008518 retinal outer nuclear layer degeneration "a retrogressive impairment or destruction of the retinal layer that contains the nuclei and cell bodies of rods and cones" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Alms1tvrm102/Alms1tvrm102
Genetic Background: C57BL/6J-Alms1tvrm102/Pjn

 MP:0009050 dilated proximal convoluted tubules "stretched or widened aperture of the luminal space of the convoluted portion of the duct system of the nephron that extends from the renal glomerular capsule in the kidney cortex into the kidney medulla where it joins the loop of Henle" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Edn3tmgc48/Edn3tmgc48
Genetic Background: C57BL/6-19PWK

 MP:0009255 degranulated pancreatic beta cells "insulin-secreting cells of the pancreas do not contain vesicles containing insulin" [MGI:acv "Alicia Valenzuela, Genetic Resources Curator"]
Show

Allelic Composition: Edn3tmgc48/Edn3tmgc48
Genetic Background: C57BL/6-19PWK

 MP:0009645 crystalluria "excretion of crystalline material in the urine" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Edn3tmgc48/Edn3tmgc48
Genetic Background: C57BL/6-19PWK

 MP:0010024 increased total body fat amount "greater than the normal total amount of connective tissue composed of fat cells within the entire body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Alms1L2131X/Alms1L2131X
Genetic Background: involves: C57BL/6 * NOD

 MP:0011066 abnormal renal tubule epithelial cell primary cilium morphology "any structural anomaly of the single non-motile cilium of a renal tubule epithelial cell that projects into the luminal space of the tubules where it is thought to act as a flow sensor" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", PMID:17995581]
Show

Allelic Composition: Alms1L2131X/Alms1L2131X
Genetic Background: involves: C57BL/6 * NOD

 MP:0011368 increased kidney apoptosis "increase in the number of cells of the kidney undergoing programmed cell death" [MGI:anna]
Show

Allelic Composition: Alms1L2131X/Alms1L2131X
Genetic Background: involves: C57BL/6 * NOD

 MP:0011405 tubulointerstitial nephritis "diffuse or local inflammation and edema of the interstitial tissue of the kidney, including the renal tubules; usually secondary to drug sensitization, systemic infection, graft rejection, or autoimmune disease" [MGI:anna]
Show

Allelic Composition: Edn3tmgc48/Edn3tmgc48
Genetic Background: C57BL/6-19PWK

 MP:0011440 increased kidney cell proliferation "increase in the expansion rate of any kidney cell population by cell division" [MGI:anna]
Show

Allelic Composition: Alms1L2131X/Alms1L2131X
Genetic Background: involves: C57BL/6 * NOD

 MP:0011939 increased food intake "increase in the total number of calories/food amount taken in over time when compared to the normal state" [MGI:csmith]
Show

Allelic Composition: Alms1foz/Alms1foz
Genetic Background: involves: NOD

 MP:0011967 increased or absent threshold for auditory brainstem response "increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency or broadband click" [MGI:csmith]
Show

Allelic Composition: Edn3tmgc48/Edn3tmgc48
Genetic Background: C57BL/6-19PWK

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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