ALDH3A2 (aldehyde dehydrogenase 3 family member A2)

Gene

• Entrez ID: 224
• Gene name: Aldehyde dehydrogenase 3 family member A2
• Gene symbol: ALDH3A2
• Synonyms: ALDH10, FALDH, SLS
• Chromosome: 17
• Chromosome location: 17p11.2
• Summary: Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This gene product catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acid. Mutations in the gene cause Sjogren-Larsson syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs72547556	T>A	Pathogenic	5 prime UTR variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant, missense variant
rs72547561	C>G,T	Pathogenic	Stop gained, 5 prime UTR variant, missense variant, coding sequence variant
rs72547562	C>T	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs72547568	G>A	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs72547569	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs72547570	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs72547571	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs72547575	A>G	Pathogenic	Missense variant, coding sequence variant
rs148944691	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs387906256	GA>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs387906257	->ACAAA	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs767751416	CGACAGGCGTTCCTGTCCGGCCGGTC>-	Pathogenic	5 prime UTR variant, frameshift variant, genic upstream transcript variant, coding sequence variant
rs772967175	->A	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs786205501	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs866392702	G>A	Pathogenic	Missense variant, coding sequence variant
rs886039304	CCATC>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs886039305	A>G,T	Pathogenic	Splice acceptor variant
rs1010078101	G>A	Pathogenic	Missense variant, coding sequence variant
rs1057517352	GTTTGT>-	Pathogenic	Intron variant, splice donor variant
rs1400349287	T>A,C,G	Likely-pathogenic	Intron variant
rs1555533541	T>G	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1555534430	->TAAAAGTA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555534434	C>TGTTGGGG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555534472	A>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1567607328	A>T	Pathogenic	Intron variant, stop gained, coding sequence variant
rs1597556369	TTGCAGGTGAGTCTGGCTCTCTGATTTTCTGAGGTTTTCCCAGCACAATGGAGACTTTTCCTGACAATGTTACTCTTTGTACTTGAACCCCATACCTTATGGCTCCAAGATACATTATTAAGCTTTGGTGGTTGATGTCCTCAAGAGTAACAGGAGTCTTTCACTGTCTCTTGGCGCCACTGTCAAAAATGGTGAGCTGTAAGTCCTGACATCATGTGGTTGTCCTTAGGAATTTTAAAAAAGTTATATCTGTTC	Likely-pathogenic	Coding sequence variant, intron variant, splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020947	hsa-miR-155-5p	Proteomics	18668040
MIRT025933	hsa-miR-7-5p	Microarray	19073608
MIRT041373	hsa-miR-193b-3p	CLASH	23622248

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001561	Process	Fatty acid alpha-oxidation	TAS
GO:0004028	Function	3-chloroallyl aldehyde dehydrogenase activity	IBA	21873635
GO:0004029	Function	Aldehyde dehydrogenase (NAD+) activity	IDA	9133646
GO:0004029	Function	Aldehyde dehydrogenase (NAD+) activity	IMP	8528251, 15110319
GO:0005515	Function	Protein binding	IPI	25047030
GO:0005778	Component	Peroxisomal membrane	TAS
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006081	Process	Cellular aldehyde metabolic process	IDA	9133646
GO:0006081	Process	Cellular aldehyde metabolic process	NAS	8528251
GO:0007417	Process	Central nervous system development	IMP	8528251
GO:0007422	Process	Peripheral nervous system development	IMP	8528251
GO:0008544	Process	Epidermis development	IMP	8528251
GO:0016021	Component	Integral component of membrane	IEA
GO:0030148	Process	Sphingolipid biosynthetic process	TAS
GO:0033306	Process	Phytol metabolic process	IMP	15110319
GO:0042803	Function	Protein homodimerization activity	IPI	25047030
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA	9133646
GO:0043878	Function	Glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity	IEA
GO:0046458	Process	Hexadecanal metabolic process	IDA	25047030
GO:0046577	Function	Long-chain-alcohol oxidase activity	IDA	18035827
GO:0050061	Function	Long-chain-aldehyde dehydrogenase activity	IDA	25047030
GO:0052814	Function	Medium-chain-aldehyde dehydrogenase activity	IDA	25047030

Other IDs

• MIM: 609523
• HGNC: 403
• e!Ensembl: ENSG00000072210

Protein

• UniProt ID: P51648
• Protein name: Aldehyde dehydrogenase family 3 member A2 (EC 1.2.1.3) (EC 1.2.1.94) (Aldehyde dehydrogenase 10) (Fatty aldehyde dehydrogenase) (Microsomal aldehyde dehydrogenase)
• Protein function: Catalyzes the oxidation of medium and long chain aliphatic aldehydes to fatty acids. Active on a variety of saturated and unsaturated aliphatic aldehydes between 6 and 24 carbons in length (PubMed:9133646, PubMed:22633490, PubMed:25047030, PubMed:18035827, PubMed:9662422, PubMed:18182499). Responsible for conversion of the sphingosine 1-phosphate (S1P) degradation product hexadecenal to hexadecenoic acid (PubMed:22633490).
• PDB: 4QGK
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00171	Aldedh	2 → 424	Aldehyde dehydrogenase family	Family

• Sequence:

  MELEVRRVRQAFLSGRSRPLRFRLQQLEALRRMVQEREKDILTAIAADLCKSEFNVYSQE
  VITVLGEIDFMLENLPEWVTAKPVKKNVLTMLDEAYIQPQPLGVVLIIGAWNYPFVLTIQ
  PLIGAIAAGNAVIIKPSELSENTAKILAKLLPQYLDQDLYIVINGGVEETTELLKQRFDH
  IFYTGNTAVGKIVMEAAAKHLTPVTLELGGKSPCYIDKDCDLDIVCRRITWGKYMNCGQT
  CIAPDYILCEASLQNQIVWKIKETVKEFYGENIKESPDYERIINLRHFKRILSLLEGQKI
  AFGGETDEATRYIAPTVLTDVDPKTKVMQEEIFGPILPIVPVKNVDEAINFINEREKPLA
  LYVFSHNHKLIKRMIDETSSGGVTGNDVIMHFTLNSFPFGGVGSSGMGAYHGKHSFDTFS
  HQRPCLLKSLKREGANKLRYPPNSQSKVDWGKFFLLKRFNKEKLGLLLLTFLGIVAAVLV
  KAEYY

• Sequence length: 485