ENSMUSG00000015134


Mus musculus

Features
Gene ID: ENSMUSG00000015134
  
Biological name :Aldh1a3
  
Synonyms : Aldehyde dehydrogenase family 1 member A3 / Aldh1a3 / Q9JHW9
  
Possible biological names infered from orthology : aldehyde dehydrogenase 1 family member A3 / P47895
  
Species: Mus musculus
  
Chr. number: 7
Strand: -1
Band: C
Gene start: 66390890
Gene end: 66427517
  
Corresponding Affymetrix probe sets: 10564417 (MoGene1.0st)   1417642_at (Mouse Genome 430 2.0 Array)   1427395_a_at (Mouse Genome 430 2.0 Array)   1448789_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000146806
Ensembl peptide - ENSMUSP00000015278
Ensembl peptide - ENSMUSP00000133370
Ensembl peptide - ENSMUSP00000146703
NCBI entrez gene - 56847     See in Manteia.
MGI - MGI:1861722
RefSeq - NM_053080
RefSeq Peptide - NP_444310
swissprot - Q9JHW9
swissprot - A0A140LIF9
swissprot - G3UWP3
swissprot - Q3UIA4
Ensembl - ENSMUSG00000015134
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 aldh1a3ENSDARG00000076933Danio rerio
 ALDH1A3ENSGALG00000033365Gallus gallus
 P47895ENSG00000184254Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q62148 / Aldh1a2 / Retinal dehydrogenase 2 / O94788* / aldehyde dehydrogenase 1 family member A2*ENSMUSG0000001358469
P24549 / Aldh1a1 / Retinal dehydrogenase 1 / P00352* / aldehyde dehydrogenase 1 family member A1*ENSMUSG0000005327966
O35945 / Aldh1a7 / Aldehyde dehydrogenase, cytosolic 1 / P00352* / ALDH1A1* / aldehyde dehydrogenase 1 family member A1*ENSMUSG0000002474766
Aldh2 / P47738 / Aldehyde dehydrogenase, mitochondrial / P05091* / AC002996.1* / aldehyde dehydrogenase 2 family (mitochondrial)*ENSMUSG0000002945565
Q9CZS1 / Aldh1b1 / Aldehyde dehydrogenase X, mitochondrial / P30837* / aldehyde dehydrogenase 1 family member B1*ENSMUSG0000003556163
Q8K009 / Aldh1l2 / Mitochondrial 10-formyltetrahydrofolate dehydrogenase / Q3SY69* / aldehyde dehydrogenase 1 family member L2*ENSMUSG0000002025649
Q8R0Y6 / Aldh1l1 / Mus musculus aldehyde dehydrogenase 1 family, member L1 (Aldh1l1), transcript variant 2, mRNA. / O75891* / aldehyde dehydrogenase 1 family member L1*ENSMUSG0000003008847
Q8BH00 / Aldh8a1 / Aldehyde dehydrogenase family 8 member A1 / Q9H2A2* / aldehyde dehydrogenase 8 family member A1*ENSMUSG0000003754236
Aldh9a1 / aldehyde dehydrogenase 9 family member A1 / P49189*ENSMUSG0000002668734
Q9DBF1 / Aldh7a1 / Alpha-aminoadipic semialdehyde dehydrogenase / P49419* / aldehyde dehydrogenase 7 family member A1*ENSMUSG0000005364427


Protein motifs (from Interpro)
Interpro ID Name
 IPR012394  Aldehyde dehydrogenase NAD(P)-dependent
 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:0002138 retinoic acid biosynthetic process IMP
 biological_processGO:0006081 cellular aldehyde metabolic process IEA
 biological_processGO:0007626 locomotory behavior IMP
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0021768 nucleus accumbens development IMP
 biological_processGO:0031076 embryonic camera-type eye development IMP
 biological_processGO:0042472 inner ear morphogenesis IMP
 biological_processGO:0042572 retinol metabolic process IEA
 biological_processGO:0042573 retinoic acid metabolic process IEA
 biological_processGO:0042574 retinal metabolic process IEA
 biological_processGO:0043065 positive regulation of apoptotic process IMP
 biological_processGO:0043584 nose development IMP
 biological_processGO:0048048 embryonic eye morphogenesis IMP
 biological_processGO:0048386 positive regulation of retinoic acid receptor signaling pathway ISO
 biological_processGO:0050885 neuromuscular process controlling balance IMP
 biological_processGO:0051289 protein homotetramerization IEA
 biological_processGO:0055114 oxidation-reduction process IEA
 biological_processGO:0060013 righting reflex IMP
 biological_processGO:0060166 olfactory pit development IMP
 biological_processGO:0060324 face development IGI
 biological_processGO:0070384 Harderian gland development IMP
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005886 plasma membrane IEA
 molecular_functionGO:0001758 retinal dehydrogenase activity IEA
 molecular_functionGO:0004028 3-chloroallyl aldehyde dehydrogenase activity TAS
 molecular_functionGO:0004029 aldehyde dehydrogenase (NAD) activity IDA
 molecular_functionGO:0004030 aldehyde dehydrogenase [NAD(P)+] 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:0042803 protein homodimerization activity IEA
 molecular_functionGO:0070324 thyroid hormone binding IPI
 molecular_functionGO:0070403 NAD+ binding IDA


Pathways (from Reactome)
Pathway description
RA biosynthesis pathway


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001575 cyanosis "a dark bluish or purple skin discoloration resulting from deficient oxygenation of the blood" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60159]
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Allelic Composition: Msh2tm1Mak/Msh2+,Mutyhtm1Jhmi/Mutyhtm1Jhmi,Ogg1tm1Tld/Ogg1tm1Tld
Genetic Background: involves: 129 * C57BL/6J

 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: Msh2tm1Mak/Msh2+,Mutyhtm1Jhmi/Mutyhtm1Jhmi,Ogg1tm1Tld/Ogg1tm1Tld
Genetic Background: involves: 129 * C57BL/6J

Allelic Composition: Aldh1a1tm1.1Ngb/Aldh1a1tm1.1Ngb,Aldh1a3tm1.1Pcn/Aldh1a3tm1.1Pcn
Genetic Background: involves: 129/Sv * C57BL/6 * SJL

 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: Msh2tm1Mak/Msh2+,Mutyhtm1Jhmi/Mutyhtm1Jhmi,Ogg1tm1Tld/Ogg1tm1Tld
Genetic Background: involves: 129 * C57BL/6J

 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:0002237 abnormal nasal cavity morphology "any structural anomaly of the portion of the respiratory tract that extends from the nares to the pharynx; the nasal cavity is lined with ciliated mucosa" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Msh2tm1Mak/Msh2+,Mutyhtm1Jhmi/Mutyhtm1Jhmi,Ogg1tm1Tld/Ogg1tm1Tld
Genetic Background: involves: 129 * C57BL/6J

 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: Mx1r/Mx1r
Genetic Background: A2G

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:0003446 renal hypoplasia "decreased cell number in the kidney leading to reduced size" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
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Allelic Composition: Aldh1a2tm1Gdu/Aldh1a2tm1Gdu,Aldh1a3tm1Gdu/Aldh1a3tm1Gdu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * Swiss Webster

 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: Msh2tm1Mak/Msh2+,Mutyhtm1Jhmi/Mutyhtm1Jhmi,Ogg1tm1Tld/Ogg1tm1Tld
Genetic Background: involves: 129 * C57BL/6J

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

Allelic Composition: Aldh1a2tm1Gdu/Aldh1a2tm1Gdu,Aldh1a3tm1Gdu/Aldh1a3tm1Gdu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0004936 abnormal ureteric bud branching morphogenesis "partial or complete failure of the ureteric bud to repeatedly divide into lobules during development of the kidney" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Aldh1a2tm1Gdu/Aldh1a2tm1Gdu,Aldh1a3tm1Gdu/Aldh1a3tm1Gdu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * Swiss Webster

 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: Msh2tm1Mak/Msh2+,Mutyhtm1Jhmi/Mutyhtm1Jhmi,Ogg1tm1Tld/Ogg1tm1Tld
Genetic Background: involves: 129 * C57BL/6J

Allelic Composition: Aldh1a1tm1.1Ngb/Aldh1a1tm1.1Ngb,Aldh1a3tm1.1Pcn/Aldh1a3tm1.1Pcn
Genetic Background: involves: 129/Sv * C57BL/6 * SJL

 MP:0008970 choanal atresia "blockage of the back of the nasal passageby abnormal bony or soft tissue, usually due to failure of the bucconasal membrane to involute during development" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Msh2tm1Mak/Msh2+,Mutyhtm1Jhmi/Mutyhtm1Jhmi,Ogg1tm1Tld/Ogg1tm1Tld
Genetic Background: involves: 129 * C57BL/6J

 MP:0008972 ethmoturbinate hypoplasia "underdevelopment or reduced size, usually due to a reduced number of cells, of the conchae of the ethmoid bone which occupy the caudal part of the nasal fossae and form the lateral and superior portions of the turbinate bones in mammals" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Msh2tm1Mak/Msh2+,Mutyhtm1Jhmi/Mutyhtm1Jhmi,Ogg1tm1Tld/Ogg1tm1Tld
Genetic Background: involves: 129 * C57BL/6J

 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: Msh2tm1Mak/Msh2+,Mutyhtm1Jhmi/Mutyhtm1Jhmi,Ogg1tm1Tld/Ogg1tm1Tld
Genetic Background: involves: 129 * C57BL/6J

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: Msh2tm1Mak/Msh2+,Mutyhtm1Jhmi/Mutyhtm1Jhmi,Ogg1tm1Tld/Ogg1tm1Tld
Genetic Background: involves: 129 * C57BL/6J

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: Msh2tm1Mak/Msh2+,Mutyhtm1Jhmi/Mutyhtm1Jhmi,Ogg1tm1Tld/Ogg1tm1Tld
Genetic Background: involves: 129 * C57BL/6J

Allelic Composition: Aldh1a1tm1.1Ngb/Aldh1a1tm1.1Ngb,Aldh1a3tm1.1Pcn/Aldh1a3tm1.1Pcn
Genetic Background: involves: 129/Sv * C57BL/6 * SJL

Allelic Composition: Aldh1a3tm1Gdu/Aldh1a3tm1Gdu
Genetic Background: involves: C57BL/6

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

 MP:0010712 absent nasolacrimal duct "absence of the paired channels leading from the lacrimal sacs to the inferior meatus of the nose, through which tears are conducted through the nasal cavity" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Msh2tm1Mak/Msh2+,Mutyhtm1Jhmi/Mutyhtm1Jhmi,Ogg1tm1Tld/Ogg1tm1Tld
Genetic Background: involves: 129 * C57BL/6J

 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: Msh2tm1Mak/Msh2+,Mutyhtm1Jhmi/Mutyhtm1Jhmi,Ogg1tm1Tld/Ogg1tm1Tld
Genetic Background: involves: 129 * C57BL/6J

Allelic Composition: Aldh1a1tm1.1Ngb/Aldh1a1tm1.1Ngb,Aldh1a3tm1.1Pcn/Aldh1a3tm1.1Pcn
Genetic Background: involves: 129/Sv * C57BL/6 * SJL

Allelic Composition: Aldh1a3tm1Gdu/Aldh1a3tm1Gdu
Genetic Background: involves: C57BL/6

 MP:0011964 increased total retina thickness "increased width of the retina through the center plane" [MGI:csmith]
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Allelic Composition: Aldh1a3tm1Gdu/Aldh1a3tm1Gdu
Genetic Background: involves: C57BL/6

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:0030093 absent maxillary sinus "absence of the largest of the paranasal sinuses, a paired pyramid-shaped air sinus located within the maxillary bone which drains via the maxillary ostium into the infundibulum, then through the hiatus semilunaris into the middle meatus of the nose" []
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Allelic Composition: Msh2tm1Mak/Msh2+,Mutyhtm1Jhmi/Mutyhtm1Jhmi,Ogg1tm1Tld/Ogg1tm1Tld
Genetic Background: involves: 129 * C57BL/6J

 MP:0030181 persistent nasal fins "failure of the nasal fins to rupture during development leading to choanal obstruction/atresia" [PMID:14623956]
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Allelic Composition: Msh2tm1Mak/Msh2+,Mutyhtm1Jhmi/Mutyhtm1Jhmi,Ogg1tm1Tld/Ogg1tm1Tld
Genetic Background: involves: 129 * C57BL/6J

 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: Msh2tm1Mak/Msh2+,Mutyhtm1Jhmi/Mutyhtm1Jhmi,Ogg1tm1Tld/Ogg1tm1Tld
Genetic Background: involves: 129 * C57BL/6J

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
 ENSMUSG00000015134 Q9JHW9 / Aldh1a3 / Aldehyde dehydrogenase family 1 member A3 / P47895* / aldehyde dehydrogenase 1 family member A3*  / complex






 

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