ENSMUSG00000053279


Mus musculus

Features
Gene ID: ENSMUSG00000053279
  
Biological name :Aldh1a1
  
Synonyms : Aldh1a1 / P24549 / Retinal dehydrogenase 1
  
Possible biological names infered from orthology : aldehyde dehydrogenase 1 family member A1 / P00352
  
Species: Mus musculus
  
Chr. number: 19
Strand: 1
Band: B
Gene start: 20492715
Gene end: 20643462
  
Corresponding Affymetrix probe sets: 10461979 (MoGene1.0st)   1416468_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000084918
Ensembl peptide - ENSMUSP00000153410
Ensembl peptide - ENSMUSP00000153011
NCBI entrez gene - 11668     See in Manteia.
MGI - MGI:1353450
RefSeq - NM_013467
RefSeq Peptide - NP_038495
swissprot - A0A286YDG6
swissprot - A0A286YCZ0
swissprot - P24549
Ensembl - ENSMUSG00000053279
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ALDH1A1ENSGALG00000015147Gallus gallus
 P00352ENSG00000165092Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
O35945 / Aldh1a7 / Aldehyde dehydrogenase, cytosolic 1 / P00352* / ALDH1A1* / aldehyde dehydrogenase 1 family member A1*ENSMUSG0000002474791
Q62148 / Aldh1a2 / Retinal dehydrogenase 2 / O94788* / aldehyde dehydrogenase 1 family member A2*ENSMUSG0000001358472
Q9JHW9 / Aldh1a3 / Aldehyde dehydrogenase family 1 member A3 / P47895* / aldehyde dehydrogenase 1 family member A3*ENSMUSG0000001513467
Aldh2 / P47738 / Aldehyde dehydrogenase, mitochondrial / P05091* / AC002996.1* / aldehyde dehydrogenase 2 family (mitochondrial)*ENSMUSG0000002945566
Q9CZS1 / Aldh1b1 / Aldehyde dehydrogenase X, mitochondrial / P30837* / aldehyde dehydrogenase 1 family member B1*ENSMUSG0000003556165
Q8R0Y6 / Aldh1l1 / Mus musculus aldehyde dehydrogenase 1 family, member L1 (Aldh1l1), transcript variant 2, mRNA. / O75891* / aldehyde dehydrogenase 1 family member L1*ENSMUSG0000003008848
Q8K009 / Aldh1l2 / Mitochondrial 10-formyltetrahydrofolate dehydrogenase / Q3SY69* / aldehyde dehydrogenase 1 family member L2*ENSMUSG0000002025647
Aldh9a1 / aldehyde dehydrogenase 9 family member A1 / P49189*ENSMUSG0000002668737
Q8BH00 / Aldh8a1 / Aldehyde dehydrogenase family 8 member A1 / Q9H2A2* / aldehyde dehydrogenase 8 family member A1*ENSMUSG0000003754236
Q9DBF1 / Aldh7a1 / Alpha-aminoadipic semialdehyde dehydrogenase / P49419* / aldehyde dehydrogenase 7 family member A1*ENSMUSG0000005364428


Protein motifs (from Interpro)
Interpro ID Name
 IPR015590  Aldehyde dehydrogenase domain
 IPR016160  Aldehyde dehydrogenase, cysteine active site
 IPR016161  Aldehyde/histidinol dehydrogenase
 IPR016162  Aldehyde dehydrogenase, N-terminal
 IPR029510  Aldehyde dehydrogenase, glutamic acid active site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002072 optic cup morphogenesis involved in camera-type eye development IGI
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0042493 response to drug IDA
 biological_processGO:0042572 retinol metabolic process IEA
 biological_processGO:0042573 retinoic acid metabolic process IMP
 biological_processGO:0042904 9-cis-retinoic acid biosynthetic process IDA
 biological_processGO:0043065 positive regulation of apoptotic process IGI
 biological_processGO:0048048 embryonic eye morphogenesis IGI
 biological_processGO:0055114 oxidation-reduction process ISO
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol ISS
 molecular_functionGO:0001758 retinal dehydrogenase activity ISS
 molecular_functionGO:0004028 3-chloroallyl aldehyde dehydrogenase activity IDA
 molecular_functionGO:0004029 aldehyde dehydrogenase (NAD) activity ISO
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0016620 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor IEA
 molecular_functionGO:0018479 benzaldehyde dehydrogenase (NAD+) activity IBA
 molecular_functionGO:0051287 NAD binding ISS


Pathways (from Reactome)
Pathway description
RA biosynthesis pathway
Fructose catabolism
Ethanol oxidation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001954 respiratory distress "physical difficulty or inability to breathe" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54931]
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Allelic Composition: Ntf3tm1Par/Ntf3+
Genetic Background: involves: 129S1/Sv

 MP:0002139 abnormal liver/biliary system physiology "altered function of the liver not due to anatomical defect" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Nkx2-1tm1Shk/Nkx2-1tm1Shk
Genetic Background: involves: 129S4/SvJae

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ntf3tm1Par/Ntf3+
Genetic Background: involves: 129S1/Sv

Allelic Composition: Aldh1a1tm1Nbg/Aldh1a1tm1Nbg
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0002233 abnormal nose morphology "any structural anomaly of the organ that is specialized for smell and is part of the respiratory system " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Ntf3tm1Par/Ntf3+
Genetic Background: involves: 129S1/Sv

 MP:0002699 abnormal vitreous body "anomalies of the transparent, semigelatinous substance that fills the cavity behind the crystalline lens of the eye and in front of the retina" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Aldh1a1tm1Gdu/Aldh1a1tm1Gdu,Aldh1a3tm1Gdu/Aldh1a3tm1Gdu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0003095 abnormal corneal stroma development "anomalous differentiaton of the lamellated connective tissue layer of the cornea" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator, J:81616]
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Allelic Composition: Aldh1a1tm1.1Ngb/Aldh1a1tm1.1Ngb,Aldh1a3tm1.1Pcn/Aldh1a3tm1.1Pcn
Genetic Background: involves: 129/Sv * C57BL/6 * SJL

 MP:0004054 abnormal periocular mesenchyme morphology "malformation in the mesenchymal cells that give rise to the corneal endothelium, corneal stroma, sclera, iris stroma, ciliary muscle, ciliary stroma, and trabecular meshwork of the eye" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:102847]
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Allelic Composition: Aldh1a1tm1Gdu/Aldh1a1tm1Gdu,Aldh1a3tm1Gdu/Aldh1a3tm1Gdu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0004269 abnormal optic cup morphology "any structural anomaly of double walled stuctured formed by expansion and invagination of the distal end of the optic vesicle that develops into the pigmented and sensory layers of the retina while the mouth of the optic cup eventually forms the pupil of the eye" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Aldh1a1tm1Gdu/Aldh1a1tm1Gdu,Aldh1a3tm1Gdu/Aldh1a3tm1Gdu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0005195 abnormal posterior eye segment morphology "anomalous structure of any of the parts of the eye that lie in back of, or dorsal to, the lens (but not inclusive) " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Aldh1a1tm1Gdu/Aldh1a1tm1Gdu,Aldh1a3tm1Gdu/Aldh1a3tm1Gdu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0006162 thick eyelids "increased width of the eyelid" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Aldh1a1tm1Gdu/Aldh1a1tm1Gdu,Aldh1a3tm1Gdu/Aldh1a3tm1Gdu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0008881 absent Harderian gland "absence of the sebaceous gland located behind the eyeball in the orbit that excretes fluid that facilitates movement of the third eyelid" [MESH:A13.445]
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Allelic Composition: Aldh1a1tm1.1Ngb/Aldh1a1tm1.1Ngb,Aldh1a3tm1.1Pcn/Aldh1a3tm1.1Pcn
Genetic Background: involves: 129/Sv * C57BL/6 * SJL

 MP:0009651 abnormal eyelid development "aberrant formation of the skin folds covering the front of the eyeball" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Aldh1a1tm1.1Ngb/Aldh1a1tm1.1Ngb,Aldh1a3tm1.1Pcn/Aldh1a3tm1.1Pcn
Genetic Background: involves: 129/Sv * C57BL/6 * SJL

 MP:0009742 increased corneal stroma thickness "increased width of the lamellated connective tissue layer of the cornea" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Aldh1a1tm1Gdu/Aldh1a1tm1Gdu,Aldh1a3tm1Gdu/Aldh1a3tm1Gdu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0010706 ventral rotation of lens "a circular shift toward the ventral pole in the position of the equator of the lens relative to the optic nerve exit point" [PMID:7923367]
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Allelic Composition: Aldh1a1tm1.1Ngb/Aldh1a1tm1.1Ngb,Aldh1a3tm1.1Pcn/Aldh1a3tm1.1Pcn
Genetic Background: involves: 129/Sv * C57BL/6 * SJL

 MP:0010707 decreased ventral retina size "decreasd size of the ventral portion of the retina" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", PMID:7923367]
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Allelic Composition: Aldh1a1tm1.1Ngb/Aldh1a1tm1.1Ngb,Aldh1a3tm1.1Pcn/Aldh1a3tm1.1Pcn
Genetic Background: involves: 129/Sv * C57BL/6 * SJL

 MP:0010708 absent iris stroma "absence of the lamellated vascular connective tissue of the iris" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Aldh1a1tm1.1Ngb/Aldh1a1tm1.1Ngb,Aldh1a3tm1.1Pcn/Aldh1a3tm1.1Pcn
Genetic Background: involves: 129/Sv * C57BL/6 * SJL

 MP:0010710 absent sclera "absence of the fibrous, outer envelope of the eyeball, covering it entirely excepting the segment covered anteriorly by the cornea" [MESH:A09.371.784]
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Allelic Composition: Aldh1a1tm1.1Ngb/Aldh1a1tm1.1Ngb,Aldh1a3tm1.1Pcn/Aldh1a3tm1.1Pcn
Genetic Background: involves: 129/Sv * C57BL/6 * SJL

 MP:0010711 persistent hyperplastic primary vitreous "persistence of the embryonic fibrovascular mesodermal tissue located between the optic cup and lens vesicle that normally regresses during the development of the vitreous body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Aldh1a1tm1.1Ngb/Aldh1a1tm1.1Ngb,Aldh1a3tm1.1Pcn/Aldh1a3tm1.1Pcn
Genetic Background: involves: 129/Sv * C57BL/6 * SJL

Allelic Composition: Aldh1a1tm1Gdu/Aldh1a1tm1Gdu,Aldh1a3tm1Gdu/Aldh1a3tm1Gdu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0011087 complete neonatal lethality "death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]
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Allelic Composition: Aldh1a1tm1.1Ngb/Aldh1a1tm1.1Ngb,Aldh1a3tm1.1Pcn/Aldh1a3tm1.1Pcn
Genetic Background: involves: 129/Sv * C57BL/6 * SJL

 MP:0011964 increased total retina thickness "increased width of the retina through the center plane" [MGI:csmith]
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Allelic Composition: Aldh1a1tm1Gdu/Aldh1a1tm1Gdu,Aldh1a3tm1Gdu/Aldh1a3tm1Gdu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0013744 abnormal conjunctival sac morphology "any structural anomaly of the space bound by the conjunctival membrane between the palpebral and bulbar conjunctiva, into which the lacrimal fluid is secreted; it is a closed space when eye is closed; when eye is open, the sac is open anteriorly through the palpebral fissure (between the eyelids)" [http://www.medilexicon.com/medicaldictionary.php?t=79277, MGI:Anna]
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Allelic Composition: Aldh1a1tm1.1Ngb/Aldh1a1tm1.1Ngb,Aldh1a3tm1.1Pcn/Aldh1a3tm1.1Pcn
Genetic Background: involves: 129/Sv * C57BL/6 * SJL

 MP:0030326 decreased periocular mesenchyme apoptosis "reduction in the number of cells of the periocular mesenchyme undergoing programmed cell death" [MGI:anna]
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Allelic Composition: Aldh1a1tm1.1Ngb/Aldh1a1tm1.1Ngb,Aldh1a3tm1.1Pcn/Aldh1a3tm1.1Pcn
Genetic Background: involves: 129/Sv * C57BL/6 * SJL

Allelic Composition: Aldh1a1tm1Gdu/Aldh1a1tm1Gdu,Aldh1a3tm1Gdu/Aldh1a3tm1Gdu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000024747 O35945 / Aldh1a7 / Aldehyde dehydrogenase, cytosolic 1 / P00352* / ALDH1A1* / aldehyde dehydrogenase 1 family member A1*  / complex
 ENSMUSG00000053279 P24549 / Aldh1a1 / Retinal dehydrogenase 1 / P00352* / aldehyde dehydrogenase 1 family member A1*  / complex






 

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