• Gene id: 125

Gene Summary

• Gene Symbol: ADH1B   Gene   UCSC   Ensembl
• Aliases: ADH2, HEL-S-117
• Gene name: alcohol dehydrogenase 1B (class I), beta polypeptide
• Alternate names: all-trans-retinol dehydrogenase [NAD(+)] ADH1B, ADH, beta subunit, alcohol dehydrogenase 2 (class I), beta polypeptide, alcohol dehydrogenase subunit beta, aldehyde reductase, epididymis secretory protein Li 117,
• Gene location: 4q23 (99321400: 99304970)     Exons: 18     NC_000004.12
• Gene summary(Entrez): The protein encoded by this gene is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products
• OMIM: 103720

SNPs

rs11144790

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

NC_000009.12   g.76197556G>A
NC_000009.11   g.78812472G>A
NG_029445.1   g.311913G>A|SEQ=[G/A]|GENE=PCSK5

Protein Summary

• Protein general information: P00325  
  • Name: All trans retinol dehydrogenase [NAD(+)] ADH1B (EC 1.1.1.105) (Alcohol dehydrogenase 1B) (Alcohol dehydrogenase subunit beta)
  • Length: 375  
  • Mass: 39855
• Sequence:

  MSTAGKVIKCKAAVLWEVKKPFSIEDVEVAPPKAYEVRIKMVAVGICRTDDHVVSGNLVTPLPVILGHEAAGIVE
  SVGEGVTTVKPGDKVIPLFTPQCGKCRVCKNPESNYCLKNDLGNPRGTLQDGTRRFTCRGKPIHHFLGTSTFSQY
  TVVDENAVAKIDAASPLEKVCLIGCGFSTGYGSAVNVAKVTPGSTCAVFGLGGVGLSAVMGCKAAGAARIIAVDI
  NKDKFAKAKELGATECINPQDYKKPIQEVLKEMTDGGVDFSFEVIGRLDTMMASLLCCHEACGTSVIVGVPPASQ
  NLSINPMLLLTGRTWKGAVYGGFKSKEGIPKLVADFMAKKFSLDALITHVLPFEKINEGFDLLHSGKSIRTVLTF

• Structural information:
  • Interpro: IPR013149  IPR013154  IPR002328  IPR011032  IPR036291   IPR020843  
  • Prosite: PS00059
  • PDB: 1DEH 1HDX 1HDY 1HDZ 1HSZ 1HTB 1U3U 1U3V 3HUD
  • PDBsum: 1DEH 1HDX 1HDY 1HDZ 1HSZ 1HTB 1U3U 1U3V 3HUD
  • STRING: ENSP00000306606
• Other Databases: GeneCards:  ADH1B  Malacards:  ADH1B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042573	retinoic acid metabolic process	IBA	biological process
GO:0042572	retinol metabolic process	IBA	biological process
GO:0008270	zinc ion binding	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0004745	retinol dehydrogenase activity	IBA	molecular function
GO:0006069	ethanol oxidation	IBA	biological process
GO:0004024	alcohol dehydrogenase activity, zinc-dependent	IBA	molecular function
GO:0004745	retinol dehydrogenase activity	IDA	molecular function
GO:0001523	retinoid metabolic process	IDA	biological process
GO:0001523	retinoid metabolic process	IDA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0004745	retinol dehydrogenase activity	IEA	molecular function
GO:0006069	ethanol oxidation	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0008270	zinc ion binding	IDA	molecular function
GO:0006069	ethanol oxidation	IDA	biological process
GO:0004024	alcohol dehydrogenase activity, zinc-dependent	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05204	Chemical carcinogenesis
hsa00980	Metabolism of xenobiotics by cytochrome P450
hsa00982	Drug metabolism - cytochrome P450
hsa00830	Retinol metabolism
hsa00010	Glycolysis / Gluconeogenesis
hsa00071	Fatty acid degradation
hsa00350	Tyrosine metabolism

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
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)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R