• Gene id: 221

Gene Summary

• Gene Symbol: ALDH3B1   Gene   UCSC   Ensembl
• Aliases: ALDH4, ALDH7
• Gene name: aldehyde dehydrogenase 3 family member B1
• Alternate names: aldehyde dehydrogenase family 3 member B1, aldehyde dehydrogenase 3B1, aldehyde dehydrogenase 7,
• Gene location: 11q13.2 (68008546: 68029275)     Exons: 11     NC_000011.10
• Gene summary(Entrez): This gene encodes a member of the aldehyde dehydrogenase protein family. Aldehyde dehydrogenases are a family of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The encoded pro
• OMIM: 601281

SNPs

rs397515340

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000006.12   g.43670919_43670921GAA[1]
NC_000006.12   g.43670919_43670921GAA[3]
NC_000006.11   g.43638656_43638658GAA[1]
NC_000006.11   g.43638656_43638658GAA[3]
NG_023436.1   g.30890_30892GAA[1]
NG_023436.1   g.30890_30892GAA[3]
NM_152732.5   c.801_803GAA[1]
NM  

rs7910927

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

NC_000010.11   g.63379150T>A
NC_000010.11   g.63379150T>G
NC_000010.10   g.65138910T>A
NC_000010.10   g.65138910T>G
NG_053187.1   g.147926A>T
NG_053187.1   g.147926A>C|SEQ=[T/A/G]|GENE=JMJD1C

rs10822184

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

NC_000010.11   g.63577393T>C
NC_000010.11   g.63577393T>G
NC_000010.10   g.65337153T>C
NC_000010.10   g.65337153T>G|SEQ=[T/C/G]|GENE=REEP3

Protein Summary

• Protein general information: P43353  
  • Name: Aldehyde dehydrogenase family 3 member B1 (EC 1.2.1.28) (EC 1.2.1.5) (EC 1.2.1.7) (Aldehyde dehydrogenase 7)
  • Length: 468  
  • Mass: 51840
  • Tissue specificity: Highest expression in kidney and lung.
• Sequence:

  MDPLGDTLRRLREAFHAGRTRPAEFRAAQLQGLGRFLQENKQLLHDALAQDLHKSAFESEVSEVAISQGEVTLAL
  RNLRAWMKDERVPKNLATQLDSAFIRKEPFGLVLIIAPWNYPLNLTLVPLVGALAAGNCVVLKPSEISKNVEKIL
  AEVLPQYVDQSCFAVVLGGPQETGQLLEHRFDYIFFTGSPRVGKIVMTAAAKHLTPVTLELGGKNPCYVDDNCDP
  QTVANRVAWFRYFNAGQTCVAPDYVLCSPEMQERLLPALQSTITRFYGDDPQSSPNLGRIINQKQFQRLRALLGC
  GRVAIGGQSDESDRYIAPTVLVDVQEMEPVMQEEIFGPILPIVNVQSLDEAIEFINRREKPLALYAFSNSSQVVK
  RVLTQTSSGGFCGNDGFMHMTLASLPFGGVGASGMGRYHGKFSFDTFSHHRACLLRSPGMEKLNALRYPPQSPRR
  LRMLLVAMEAQGCSCTLL

• Structural information:
  • Interpro: IPR016161  IPR016163  IPR016160  IPR029510  IPR016162   IPR015590  IPR012394  
  • Prosite: PS00070 PS00687
  • STRING: ENSP00000473990
• Other Databases: GeneCards:  ALDH3B1  Malacards:  ALDH3B1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004028	3-chloroallyl aldehyde dehydrogenase activity	IBA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0006081	cellular aldehyde metabolic 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:0016491	oxidoreductase activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0004028	3-chloroallyl aldehyde dehydrogenase activity	TAS	molecular function
GO:0006629	lipid metabolic process	TAS	biological process
GO:0006066	alcohol metabolic process	TAS	biological process
GO:0018477	benzaldehyde dehydrogenase (NADP+) activity	IEA	molecular function
GO:0004030	aldehyde dehydrogenase [NAD(P)+] activity	IEA	molecular function
GO:0018479	benzaldehyde dehydrogenase (NAD+) activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0034599	cellular response to oxidative stress	IDA	biological process
GO:0046185	aldehyde catabolic process	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0004030	aldehyde dehydrogenase [NAD(P)+] activity	IDA	molecular function
GO:0004030	aldehyde dehydrogenase [NAD(P)+] activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0030148	sphingolipid biosynthetic process	TAS	biological process
GO:0030667	secretory granule membrane	TAS	cellular component
GO:0035579	specific granule membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0004029	aldehyde dehydrogenase (NAD+) activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0006068	ethanol catabolic process	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0031982	vesicle	HDA	cellular component

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
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq