ENSG00000184254


Homo sapiens

Features
Gene ID: ENSG00000184254
  
Biological name :ALDH1A3
  
Synonyms : aldehyde dehydrogenase 1 family member A3 / ALDH1A3 / P47895
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 15
Strand: 1
Band: q26.3
Gene start: 100877714
Gene end: 100916626
  
Corresponding Affymetrix probe sets: 203180_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000452789
Ensembl peptide - ENSP00000453328
Ensembl peptide - ENSP00000454107
Ensembl peptide - ENSP00000332256
Ensembl peptide - ENSP00000343294
NCBI entrez gene - 220     See in Manteia.
OMIM - 600463
RefSeq - NM_000693
RefSeq - NM_001293815
RefSeq Peptide - NP_000684
RefSeq Peptide - NP_001280744
swissprot - P47895
swissprot - A0A024RC95
swissprot - H0Y2X5
swissprot - H0YKF9
swissprot - H0YLT1
swissprot - H0YNQ3
Ensembl - ENSG00000184254
  
Related genetic diseases (OMIM): 615113 - Microphthalmia, isolated 8, 615113
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 aldh1a3ENSDARG00000076933Danio rerio
 ALDH1A3ENSGALG00000033365Gallus gallus
 Q9JHW9ENSMUSG00000015134Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
O94788 / ALDH1A2 / aldehyde dehydrogenase 1 family member A2ENSG0000012891870
P00352 / ALDH1A1 / aldehyde dehydrogenase 1 family member A1ENSG0000016509269
ALDH2 / P05091 / aldehyde dehydrogenase 2 family (mitochondrial)ENSG0000011127564
P30837 / ALDH1B1 / aldehyde dehydrogenase 1 family member B1ENSG0000013712462
Q3SY69 / ALDH1L2 / aldehyde dehydrogenase 1 family member L2ENSG0000013601048
O75891 / ALDH1L1 / aldehyde dehydrogenase 1 family member L1ENSG0000014490848
Q9H2A2 / ALDH8A1 / aldehyde dehydrogenase 8 family member A1ENSG0000011851436
P49189 / ALDH9A1 / aldehyde dehydrogenase 9 family member A1ENSG0000014314934
AC002996.1ENSG0000025776730
P49419 / ALDH7A1 / aldehyde dehydrogenase 7 family member A1ENSG0000016490429


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 IEA
 biological_processGO:0002138 retinoic acid biosynthetic process IDA
 biological_processGO:0007626 locomotory behavior IEA
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0021768 nucleus accumbens development IEA
 biological_processGO:0031076 embryonic camera-type eye development ISS
 biological_processGO:0042472 inner ear morphogenesis IEA
 biological_processGO:0042572 retinol metabolic process IEA
 biological_processGO:0042573 retinoic acid metabolic process IDA
 biological_processGO:0042574 retinal metabolic process IDA
 biological_processGO:0043065 positive regulation of apoptotic process IEA
 biological_processGO:0043584 nose development IEA
 biological_processGO:0048048 embryonic eye morphogenesis ISS
 biological_processGO:0050885 neuromuscular process controlling balance IEA
 biological_processGO:0051289 protein homotetramerization IDA
 biological_processGO:0055114 oxidation-reduction process IEA
 biological_processGO:0060013 righting reflex IEA
 biological_processGO:0060166 olfactory pit development IEA
 biological_processGO:0060324 face development IEA
 biological_processGO:0070384 Harderian gland development IEA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0001758 retinal dehydrogenase activity TAS
 molecular_functionGO:0004029 aldehyde dehydrogenase (NAD) activity IBA
 molecular_functionGO:0004030 aldehyde dehydrogenase [NAD(P)+] activity IDA
 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 IDA
 molecular_functionGO:0070324 thyroid hormone binding IEA
 molecular_functionGO:0070403 NAD+ binding IEA


Pathways (from Reactome)
Pathway description
RA biosynthesis pathway


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000541 Detached retina 
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 HP:0000568 Microphthalmos "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators]
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 HP:0000589 Coloboma "A developmental defect characterized by a cleft of some portion of the `eye` (FMA:54448`) or ocular adnexa." [HPO:probinson]
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 HP:0000609 Optic nerve hypoplasia 
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 HP:0000621 Entropion "An abnormal turning inward of the upper and/or lower eyelid." [HPO:sdoelken]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000184254 P47895 / ALDH1A3 / aldehyde dehydrogenase 1 family member A3  / complex






 

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