ENSMUSG00000040554


Mus musculus

Features
Gene ID: ENSMUSG00000040554
  
Biological name :Aipl1
  
Synonyms : Aipl1 / Aryl-hydrocarbon-interacting protein-like 1 / Q924K1
  
Possible biological names infered from orthology : aryl hydrocarbon receptor interacting protein like 1 / Q9NZN9
  
Species: Mus musculus
  
Chr. number: 11
Strand: -1
Band: B4
Gene start: 72027963
Gene end: 72037509
  
Corresponding Affymetrix probe sets: 10388098 (MoGene1.0st)   1425590_s_at (Mouse Genome 430 2.0 Array)   1427952_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000036279
Ensembl peptide - ENSMUSP00000061957
NCBI entrez gene - 114230     See in Manteia.
MGI - MGI:2148800
RefSeq - XM_006531999
RefSeq - NM_053245
RefSeq - XM_006531997
RefSeq Peptide - NP_444475
swissprot - Q924K1
swissprot - I6L993
Ensembl - ENSMUSG00000040554
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 aipl1ENSDARG00000075067Danio rerio
 AIPL1ENSGALG00000005014Gallus gallus
 AIPL1ENSG00000129221Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Aip / O08915 / AH receptor-interacting protein / O00170* / aryl hydrocarbon receptor interacting protein*ENSMUSG0000002484748


Protein motifs (from Interpro)
Interpro ID Name
 IPR001179  FKBP-type peptidyl-prolyl cis-trans isomerase domain
 IPR011990  Tetratricopeptide-like helical domain superfamily
 IPR013026  Tetratricopeptide repeat-containing domain
 IPR019734  Tetratricopeptide repeat
 IPR031209  Aryl-hydrocarbon-interacting protein-like 1


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001895 retina homeostasis IMP
 biological_processGO:0007601 visual perception IEA
 biological_processGO:0007603 phototransduction, visible light IMP
 biological_processGO:0018343 protein farnesylation IEA
 biological_processGO:0030823 obsolete regulation of cGMP metabolic process IMP
 biological_processGO:0043066 negative regulation of apoptotic process IMP
 cellular_componentGO:0001917 photoreceptor inner segment IDA
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005654 nucleoplasm IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IEA
 molecular_functionGO:0001918 farnesylated protein binding IEA
 molecular_functionGO:0005515 protein binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001004 abnormal photoreceptor morphology "structural or developmental anomaly of the receptors sensitive to light " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Npas1tm1Slm/Npas1+,Npas3tm1Slm/Npas3tm1Slm
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0001006 abnormal cone morphology "structural or developmental anomaly of the retinal receptors that give rise to color vision" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Cblbtm1Hua/Cblbtm1Hua
Genetic Background: B6.129P2-Cblbtm1Hua

 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: Npas1tm1Slm/Npas1+,Npas3tm1Slm/Npas3tm1Slm
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Aipl1tm1Visu/Aipl1tm1Visu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0001327 reduced retinal photoreceptor cell number "fewer than the expected number of rods and/or cones" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Cblbtm1Hua/Cblbtm1Hua
Genetic Background: B6.129P2-Cblbtm1Hua

Allelic Composition: Aipl1tm1Mad/Aipl1+
Genetic Background: involves: 129S7/SvEvBrd

 MP:0003729 abnormal photoreceptor outer segments "malformation/anomalous structure of the photoreceptor layer which contains stacks of membranous discs that are rich in the visual pigment rhodopsin " [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Aipl1tm1Visu/Aipl1tm1Visu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0003730 abnormal photoreceptor inner segments "malformation/anomalous structure of the photoreceptor layer which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc)" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Aipl1tm1Visu/Aipl1tm1Visu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0003732 abnormal outer plexiform layer morphology "malformation/anomalous structure of the retinal layer that is the site of synapses between the rods and cones (axons) and the horizontal and bipolar cells (dendrites)" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Cblbtm1Hua/Cblbtm1Hua
Genetic Background: B6.129P2-Cblbtm1Hua

 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]
Show

Allelic Composition: Cblbtm1Hua/Cblbtm1Hua
Genetic Background: B6.129P2-Cblbtm1Hua

Allelic Composition: Aipl1tm1Visu/Aipl1tm1Visu,Tg(Crx-AIPL1*P351)#Visu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 MP:0004022 abnormal cone electrophysiology "anomaly in the function of light adapted vision mediated by the cones" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Col17a1tm1Tiin/Col17a1tm1Tiin
Genetic Background: involves: C57BL/6JOlaHsd

 MP:0005547 abnormal Muller cell morphology "anomalous structure of the elongated neuroglial cells that traverse all the layers of the retina and that act as supporting elements" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Cblbtm1Hua/Cblbtm1Hua
Genetic Background: B6.129P2-Cblbtm1Hua

 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: Npas1tm1Slm/Npas1+,Npas3tm1Slm/Npas3tm1Slm
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Aipl1tm1Visu/Aipl1tm1Visu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0006069 abnormal retinal neuronal layer morphology "malformation in any of the neuronal layers that make up the retina, including the ganglion cell, inner plexiform, inner nuclear, outer plexiform, outer nuclear layers, the inner and outer segments" [smb:Susan M Bello, Mouse Genome Informatics Curator, Gray s Anatomy:ISBN 0-914294-08-3]
Show

Allelic Composition: Cblbtm1Hua/Cblbtm1Hua
Genetic Background: B6.129P2-Cblbtm1Hua

 MP:0006073 abnormal retinal bipolar cell morphology "anomalous structure of the cells that transmit signals from the photoreceptors to retinal amacrine and ganglion cells" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:92623:]
Show

Allelic Composition: Cblbtm1Hua/Cblbtm1Hua
Genetic Background: B6.129P2-Cblbtm1Hua

 MP:0006149 blurred vision "loss of visiual acuity or ability to distinguish small details" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Col17a1tm1Tiin/Col17a1tm1Tiin
Genetic Background: involves: C57BL/6JOlaHsd

 MP:0008444 retinal cone cell degeneration "a retrogressive impairment of function or destruction of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment" [MESH:A08.663.650.650.670.100, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Aipl1tm1Visu/Aipl1tm1Visu,Tg(Crx-AIPL1*P351)#Visu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 MP:0008446 decreased retinal cone cell number "reduced number of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment" [MESH:A08.663.650.650.670.100, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cblbtm1Hua/Cblbtm1Hua
Genetic Background: B6.129P2-Cblbtm1Hua

 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: Cblbtm1Hua/Cblbtm1Hua
Genetic Background: B6.129P2-Cblbtm1Hua

Allelic Composition: Aipl1tm1Visu/Aipl1tm1Visu,Tg(Crx-AIPL1*P351)#Visu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

Allelic Composition: Aipl1tvrm119/Aipl1tvrm119
Genetic Background: C57BL/6J-Aipl1tvrm119/Pjn

Allelic Composition: Aipl1tvrm127/Aipl1tvrm127
Genetic Background: C57BL/6J-Aipl1tvrm127/Pjn

Allelic Composition: Aipl1tvrm119/Aipl1tvrm127
Genetic Background: C57BL/6J-Aipl1tvrm119/Aipl1tvrm127

 MP:0008451 retinal rod cell degeneration "a retrogressive impairment of function or destruction of one of the photoreceptor cell types of the vertebrate retina, in which the photopigment is in stacks of membranous disks separate from the outer cell membrane" [MESH:A08.663.650.650.670.650]
Show

Allelic Composition: Cblbtm1Hua/Cblbtm1Hua
Genetic Background: B6.129P2-Cblbtm1Hua

 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"]
Show

Allelic Composition: Cblbtm1Hua/Cblbtm1Hua
Genetic Background: B6.129P2-Cblbtm1Hua

Allelic Composition: Aipl1tm1Visu/Aipl1tm1Visu,Tg(Crx-AIPL1*P351)#Visu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 MP:0010748 abnormal visual evoked potential "anomaly in the electroencephalographic pattern recorded from the occipital area generated in response to retinal stimulation such as flashing lights or inverting a contrasting image; may be used to evaluate optic nerve damage or visual perception" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Aipl1tvrm119/Aipl1tvrm119
Genetic Background: C57BL/6J-Aipl1tvrm119/Pjn

Allelic Composition: Aipl1tvrm127/Aipl1tvrm127
Genetic Background: C57BL/6J-Aipl1tvrm127/Pjn

 MP:0010749 absent visual evoked potential "absence of a characteristic electroencephalographic pattern recorded from the occipital area generated in response to retinal stimulation such as flashing lights or inverting a contrasting image; absence may indicate blindness" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Aipl1tvrm127/Aipl1tvrm127
Genetic Background: C57BL/6J-Aipl1tvrm127/Pjn

 MP:0012029 abnormal electroretinogram waveform feature "any anomaly in the pattern of the graphic record of the integrated ensemble response from many vision related neuronal and glial populations as a consequence of the serial processing within the retina, represented as changes in voltage over time after visual photonic stimulation" [MGI:csmith]
Show

Allelic Composition: Aipl1tvrm119/Aipl1tvrm119
Genetic Background: C57BL/6J-Aipl1tvrm119/Pjn

  


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






 

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