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]
Show

 HP:0000541 Detached retina 
Show

 HP:0000568 Microphthalmos "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators]
Show

 HP:0000589 Coloboma "A developmental defect characterized by a cleft of some portion of the `eye` (FMA:54448`) or ocular adnexa." [HPO:probinson]
Show

 HP:0000609 Optic nerve hypoplasia 
Show

 HP:0000621 Entropion "An abnormal turning inward of the upper and/or lower eyelid." [HPO:sdoelken]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000184254 P47895 / ALDH1A3 / aldehyde dehydrogenase 1 family member A3  / complex






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2025
contact: otassy@igbmc.fr