• Gene id: 220

Gene Summary

• Gene Symbol: ALDH1A3   Gene   UCSC   Ensembl
• Aliases: ALDH1A6, ALDH6, MCOP8, RALDH3
• Gene name: aldehyde dehydrogenase 1 family member A3
• Alternate names: aldehyde dehydrogenase family 1 member A3, acetaldehyde dehydrogenase 6, aldehyde dehydrogenase 6, retinaldehyde dehydrogenase 3,
• Gene location: 15q26.3 (100879830: 100916625)     Exons: 13     NC_000015.10
• Gene summary(Entrez): This gene encodes an aldehyde dehydrogenase enzyme that uses retinal as a substrate. Mutations in this gene have been associated with microphthalmia, isolated 8, and expression changes have also been detected in tumor cells. Alternative splicing results i
• OMIM: 600463

SNPs

rs1555633

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.31781295T>A
NC_000013.11   g.31781295T>G
NC_000013.10   g.32355432T>A
NC_000013.10   g.32355432T>G
NG_015819.1   g.46754T>A
NG_015819.1   g.46754T>G|SEQ=[T/A/G]|GENE=RXFP2

rs7325513

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.31786410A>C
NC_000013.11   g.31786410A>G
NC_000013.11   g.31786410A>T
NC_000013.10   g.32360547A>C
NC_000013.10   g.32360547A>G
NC_000013.10   g.32360547A>T
NG_015819.1   g.51869A>C
NG_015819.1   g.51869A>G
NG_015819.1   g.51869A>T
NM_130806.5   c.957A>

rs3747052

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.19131479A>G
NC_000022.11   g.19131479A>T
NC_000022.10   g.19118992A>G
NC_000022.10   g.19118992A>T
NG_008320.1   g.18199T>C
NG_008320.1   g.18199T>A
NM_022719.3   c.*2717T>C
NM_022719.3   c.*2717T>A
NM_022719.2   c.*2717T>C
NM_022719.2   c.*2717T>A
NR_1  

rs1052756

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.19132173C>T
NC_000022.10   g.19119686C>T
NG_008320.1   g.17505G>A
NM_022719.3   c.*2023G>A
NM_022719.2   c.*2023G>A
NR_134304.2   n.3542G>A
NR_134304.1   n.3568G>A
NM_053006.5   c.774C>T
NM_053006.4   c.774C>T|SEQ=[C/T]|GENE=ESS2
TSSK2   23617

rs1052763

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.19132238C>T
NC_000022.10   g.19119751C>T
NG_008320.1   g.17440G>A
NM_022719.3   c.*1958G>A
NM_022719.2   c.*1958G>A
NR_134304.2   n.3477G>A
NR_134304.1   n.3503G>A
NM_053006.5   c.839C>T
NM_053006.4   c.839C>T
NP_443732.3   p.Thr280Met|SEQ=[C/T]|GENE=ES

rs1052773

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.19132425G>A
NC_000022.10   g.19119938G>A
NG_008320.1   g.17253C>T
NM_022719.3   c.*1771C>T
NM_022719.2   c.*1771C>T
NR_134304.2   n.3290C>T
NR_134304.1   n.3316C>T
NM_053006.5   c.1026G>A
NM_053006.4   c.1026G>A|SEQ=[G/A]|GENE=ESS2
TSSK2   23617

Protein Summary

• Protein general information: P47895  
  • Name: Aldehyde dehydrogenase family 1 member A3 (EC 1.2.1.36) (Aldehyde dehydrogenase 6) (Retinaldehyde dehydrogenase 3) (RALDH 3) (RalDH3)
  • Length: 512  
  • Mass: 56108
  • Tissue specificity: Expressed at low levels in many tissues and at higher levels in salivary gland, stomach, and kidney. {ECO
• Sequence:

  MATANGAVENGQPDRKPPALPRPIRNLEVKFTKIFINNEWHESKSGKKFATCNPSTREQICEVEEGDKPDVDKAV
  EAAQVAFQRGSPWRRLDALSRGRLLHQLADLVERDRATLAALETMDTGKPFLHAFFIDLEGCIRTLRYFAGWADK
  IQGKTIPTDDNVVCFTRHEPIGVCGAITPWNFPLLMLVWKLAPALCCGNTMVLKPAEQTPLTALYLGSLIKEAGF
  PPGVVNIVPGFGPTVGAAISSHPQINKIAFTGSTEVGKLVKEAASRSNLKRVTLELGGKNPCIVCADADLDLAVE
  CAHQGVFFNQGQCCTAASRVFVEEQVYSEFVRRSVEYAKKRPVGDPFDVKTEQGPQIDQKQFDKILELIESGKKE
  GAKLECGGSAMEDKGLFIKPTVFSEVTDNMRIAKEEIFGPVQPILKFKSIEEVIKRANSTDYGLTAAVFTKNLDK
  ALKLASALESGTVWINCYNALYAQAPFGGFKMSGNGRELGEYALAEYTEVKTVTIKLGDKNP

• Structural information:
  • Interpro: IPR016161  IPR016163  IPR016160  IPR029510  IPR016162   IPR015590  
  • Prosite: PS00070 PS00687
  • PDB: 5FHZ
  • PDBsum: 5FHZ
  • STRING: ENSP00000332256
• Other Databases: GeneCards:  ALDH1A3  Malacards:  ALDH1A3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004029	aldehyde dehydrogenase (NAD+) activity	IBA	molecular function
GO:0051289	protein homotetramerization	IDA	biological process
GO:0002138	retinoic acid biosynthetic process	IDA	biological process
GO:0001758	retinal dehydrogenase activity	IDA	molecular function
GO:0031076	embryonic camera-type eye development	ISS	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016620	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0001758	retinal dehydrogenase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0070384	Harderian gland development	IEA	biological process
GO:0060324	face development	IEA	biological process
GO:0060013	righting reflex	IEA	biological process
GO:0050885	neuromuscular process controlling balance	IEA	biological process
GO:0043584	nose development	IEA	biological process
GO:0042573	retinoic acid metabolic process	IEA	biological process
GO:0042472	inner ear morphogenesis	IEA	biological process
GO:0007626	locomotory behavior	IEA	biological process
GO:0004029	aldehyde dehydrogenase (NAD+) activity	IEA	molecular function
GO:0002072	optic cup morphogenesis involved in camera-type eye development	IEA	biological process
GO:0070403	NAD+ binding	IEA	molecular function
GO:0070324	thyroid hormone binding	IEA	molecular function
GO:0060166	olfactory pit development	IEA	biological process
GO:0048048	embryonic eye morphogenesis	IEA	biological process
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0031076	embryonic camera-type eye development	IEA	biological process
GO:0021768	nucleus accumbens development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0004030	aldehyde dehydrogenase [NAD(P)+] activity	IEA	molecular function
GO:0002138	retinoic acid biosynthetic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0042572	retinol metabolic process	IEA	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0042573	retinoic acid metabolic process	IDA	biological process
GO:0042574	retinal metabolic process	IDA	biological process
GO:0004030	aldehyde dehydrogenase [NAD(P)+] activity	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0048048	embryonic eye morphogenesis	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05204	Chemical carcinogenesis
hsa00980	Metabolism of xenobiotics by cytochrome P450
hsa00982	Drug metabolism - cytochrome P450
hsa00010	Glycolysis / Gluconeogenesis
hsa00350	Tyrosine metabolism
hsa00410	beta-Alanine metabolism
hsa00340	Histidine metabolism
hsa00360	Phenylalanine metabolism

Diseases

Associated diseases	References
Microphthalmia	KEGG:H01027
Microphthalmia	KEGG:H01027
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881