ENSMUSG00000019986


Mus musculus

Features
Gene ID: ENSMUSG00000019986
  
Biological name :Ahi1
  
Synonyms : Abelson helper integration site 1 / Ahi1
  
Possible biological names infered from orthology : Q8N157
  
Species: Mus musculus
  
Chr. number: 10
Strand: 1
Band: A3
Gene start: 20952547
Gene end: 21080429
  
Corresponding Affymetrix probe sets: 10362005 (MoGene1.0st)   1439083_at (Mouse Genome 430 2.0 Array)   1455177_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000101164
Ensembl peptide - ENSMUSP00000149010
Ensembl peptide - ENSMUSP00000127043
NCBI entrez gene - 52906     See in Manteia.
MGI - MGI:87971
RefSeq - XM_006512798
RefSeq - NM_001177776
RefSeq - NM_026203
RefSeq Peptide - NP_080479
RefSeq Peptide - NP_001171247
swissprot - E9QP54
swissprot - A0A1L1SQE2
swissprot - E9Q552
Ensembl - ENSMUSG00000019986
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ahi1ENSDARG00000044056Danio rerio
 AHI1ENSGALG00000013951Gallus gallus
 AHI1ENSG00000135541Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Wdr44 / Q6NVE8 / WD repeat domain 44 / Q5JSH3*ENSMUSG0000003676914


Protein motifs (from Interpro)
Interpro ID Name
 IPR001452  SH3 domain
 IPR001680  WD40 repeat
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR017986  WD40-repeat-containing domain
 IPR035832  Jouberin, SH3 domain
 IPR036028  SH3-like domain superfamily
 IPR036322  WD40-repeat-containing domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 cellular_componentGO:0005813 centrosome IEA
 cellular_componentGO:0005911 cell-cell junction IEA
 cellular_componentGO:0005912 adherens junction IEA
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0036064 ciliary basal body IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0042802 identical protein binding IEA


Pathways (from Reactome)
Pathway description
Anchoring of the basal body to the plasma membrane


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000358 abnormal cell content/ morphology "structural anomalies of the minute protoplasmic masses that make up organized tissues and which are the fundamental structural and functional units of living organisms" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Apctm2Rfo/Apc+,Smad4E6sad/Smad4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0000774 reduced brain size "smaller appearance of the brain" [J:35802]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000851 cerebellum hypoplasia "reduced cell number in the cerebellum" [MGI:CLS, J:45302]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000864 abnormal vermis "malformation in the narrow middle zone between the two hemispheres of the cerebellum" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61509]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000886 abnormal cerebellar granule layer "any malformation or absence of the innermost cortical layer of the cerebellum; contains densly packed small neurons, mostly granule cells with some Golgi cells are found at the outer border" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg
Genetic Background: involves: 129 * C57BL/6 * FVB/N

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
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Allelic Composition: Kdrtm1.1Jamb/Kdrtm1.1Jamb,Tg(KRT14-cre)1Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * ICR

Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg
Genetic Background: involves: 129 * C57BL/6 * FVB/N

Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001392 abnormal locomotor activity "altered ability or inability to move from place to place" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Gt(ROSA)26Sortm1Jus/Gt(ROSA)26Sor+,Tg(MMTV-cre)4Mam/0
Genetic Background: involves: C57BL/6J * C57BL/6N * FVB/N

 MP:0001859 kidney inflammation "local accumulation of fluid, plasma proteins, and leukocytes in the kidney" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]
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Allelic Composition: Kdrtm1.1Jamb/Kdrtm1.1Jamb,Tg(KRT14-cre)1Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * ICR

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Kdrtm1.1Jamb/Kdrtm1.1Jamb,Tg(KRT14-cre)1Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * ICR

 MP:0002135 abnormal kidney morphology "abnormal development of the kidney resulting in structural abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Kdrtm1.1Jamb/Kdrtm1.1Jamb,Tg(KRT14-cre)1Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * ICR

 MP:0002136 abnormal kidney physiology "altered ability or inability to excrete urine, not due to anatomical defect" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Kdrtm1.1Jamb/Kdrtm1.1Jamb,Tg(KRT14-cre)1Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * ICR

 MP:0002573 behavioral despair "depression assayed by reduced escape attempts and/or immobility when placed in a stressful situation such as a forced swim test or a suspension test; or failure to seek pleasurable stimuli" [J:80395]
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Allelic Composition: Gjb6tm1Kwi/Gjb6tm1Kwi
Genetic Background: involves: 129P2/OlaHsd

 MP:0002703 abnormal renal tubules "anomalous structure or development of the loops of Henle and collecting ducts in the kidney" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Kdrtm1.1Jamb/Kdrtm1.1Jamb,Tg(KRT14-cre)1Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * ICR

 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]
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Allelic Composition: Kdrtm1.1Jamb/Kdrtm1.1Jamb,Tg(KRT14-cre)1Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * ICR

Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0002989 small kidney "reduced physical bulk one or both of the organs responsible for urine secretion" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Kdrtm1.1Jamb/Kdrtm1.1Jamb,Tg(KRT14-cre)1Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * ICR

Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0003313 abnormal locomotor activation "altered ability or desire of an animal to initiate locomotor activity" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Gt(ROSA)26Sortm1Jus/Gt(ROSA)26Sor+,Tg(MMTV-cre)4Mam/0
Genetic Background: involves: C57BL/6J * C57BL/6N * FVB/N

 MP:0003675 kidney cysts "abnormal membranous sacs in any portion of the pair of organs responsible for urine secretion" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Kdrtm1.1Jamb/Kdrtm1.1Jamb,Tg(KRT14-cre)1Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * ICR

Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0003985 renal fibrosis "formation of fibrous tissue in the kidney as a result of repair or a reactive process" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0004021 abnormal rod electrophysiology "anomaly in the function of dark adapted vision mediated by the rods" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Meox2tm1(cre)Sor/Meox2+,Smad1tm2Rob/Smad1tm2Sor
Genetic Background: involves: 129S/SvEv * 129S4/SvJaeSor * C57BL/6

 MP:0004272 abnormal basement membrane morphology "anomaly in the structure, organization and/or placement of the extracellular supportive tissue adjacent to the basal surface of the epithelia, including the epithelium of muscle cells, fat cells and Schwann cells; it is comprised of type IV collagen, laminin, and sulfated proteoglycans and other components and consists of two layers, the basal lamina and the lamina reticularis" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MESH:A10.272.220]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0005164 abnormal response to injury "anomaly in the body s reaction to trauma, especially that by physical means" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0005419 hypoalbuminemia "blood albumin concentration below the normal range" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0005553 increased circulating creatinine level "greater than the normal blood concentration of this product of creatine catabolism; abnormal levels indicative of renal dysfunction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]
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Allelic Composition: Kdrtm1.1Jamb/Kdrtm1.1Jamb,Tg(KRT14-cre)1Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * ICR

Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0006072 abnormal retinal apoptosis "increase or decrease in the number of cells in the retina undergoing programmed cell death" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:92622:]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg
Genetic Background: involves: 129 * C57BL/6 * FVB/N

 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"]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg
Genetic Background: involves: 129 * C57BL/6 * FVB/N

Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Rhotm1Jlem/Rho+
Genetic Background: involves: 129 * C57BL/6 * FVB/N

 MP:0008489 postnatal slow weight gain "the weight gain over a span of postnatal developmental time is slower than controls, with or without ever attaining a similar weight to controls as adults" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Gt(ROSA)26Sortm1Jus/Gt(ROSA)26Sor+,Tg(MMTV-cre)4Mam/0
Genetic Background: involves: C57BL/6J * C57BL/6N * FVB/N

 MP:0008515 thin retinal outer nuclear layer "reduced thickness of the retinal layer that contains the nuclei and cell bodies of rods and cones" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Meox2tm1(cre)Sor/Meox2+,Smad1tm2Rob/Smad1tm2Sor
Genetic Background: involves: 129S/SvEv * 129S4/SvJaeSor * C57BL/6

Allelic Composition: Ahi1tm1Jgg/Ahi1tm2.1Jgg,Nphp1tm1Jgg/Nphp1+,Tg(Pax6-cre,GFP)2Pgr/0
Genetic Background: involves: 129 * C57BL/6 * FVB/N * NMRI

Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg
Genetic Background: involves: 129 * C57BL/6 * FVB/N

Allelic Composition: Ahi1tm1Jgg/Ahi1+,Nphp1tm1Jgg/Nphp1tm1Jgg
Genetic Background: involves: 129 * C57BL/6 * FVB/N * NMRI

 MP:0008585 absent photoreceptor outer segment "absence of the photoreceptor region that is rich in the visual pigment rhodopsin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg
Genetic Background: involves: 129 * C57BL/6 * FVB/N

Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Rhotm1Jlem/Rho+
Genetic Background: involves: 129 * C57BL/6 * FVB/N

 MP:0009719 reduced cerebellar foliation "the cerebellar lobules are reduced in size or number" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0009959 abnormal cerebellar hemisphere morphology "any structural anomaly of the paired regions of the cerebellum that lie outside and lateral to the central vermis" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0011085 complete postnatal lethality "premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg
Genetic Background: involves: 129 * C57BL/6 * FVB/N

 MP:0011086 partial postnatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0013305 isosthenuria "inability of the kidneys to produce either a concentrated or a dilute urine; refers to a state in chronic renal disease in which the kidney cannot form urine with a higher or a lower specific gravity (concentration) than that of protein-free plasma; the specific gravity of the urine becomes fixed, irrespective of the fluid intake" [MGI:Anna]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

  


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






 

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