• Gene id: 124

Gene Summary

• Gene Symbol: ADH1A   Gene   UCSC   Ensembl
• Aliases: ADH1
• Gene name: alcohol dehydrogenase 1A (class I), alpha polypeptide
• Alternate names: alcohol dehydrogenase 1A, ADH, alpha subunit, alcohol dehydrogenase 1 (class I), alpha polypeptide, alcohol dehydrogenase subunit alpha, aldehyde reductase,
• Gene location: 4q23 (99290984: 99276368)     Exons: 9     NC_000004.12
• Gene summary(Entrez): This gene encodes a member of the alcohol dehydrogenase family. The encoded protein is the alpha subunit of class I alcohol dehydrogenase, which consists of several homo- and heterodimers of alpha, beta and gamma subunits. Alcohol dehydrogenases catalyze
• OMIM: 103700

SNPs

rs371195126

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

NC_000016.10   g.4783690C>G
NC_000016.10   g.4783690C>T
NC_000016.9   g.4833691C>G
NC_000016.9   g.4833691C>T
NG_030315.1   g.9832G>C
NG_030315.1   g.9832G>A
NM_144605.5   c.589G>C
NM_144605.5   c.589G>A
NM_144605.4   c.589G>C
NM_144605.4   c.589G>A
NM_001154458.3   c.451

rs199696526

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

NC_000016.10   g.4786006G>A
NC_000016.9   g.4836007G>A
NG_030315.1   g.7516C>T
NM_144605.5   c.266C>T
NM_144605.4   c.266C>T
NM_001154458.3   c.266C>T
NM_001154458.2   c.266C>T
XM_011522379.3   c.74C>T
XM_006720846.2   c.266C>T
XM_024450155.1   c.266C>T
XM_017022938.1   c

rs759992

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

NC_000016.10   g.4788494A>C
NC_000016.10   g.4788494A>G
NC_000016.9   g.4838495A>C
NC_000016.9   g.4838495A>G
NG_030315.1   g.5028T>G
NG_030315.1   g.5028T>C
NM_144605.4   c.-237T>G
NM_144605.4   c.-237T>C
NM_001154458.2   c.-237T>G
NM_001154458.2   c.-237T>C
XM_0115225  

rs3827527

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

NC_000016.10   g.4788322G>A
NC_000016.9   g.4838323G>A
NG_030315.1   g.5200C>T
NM_144605.5   c.-65C>T
NM_144605.4   c.-65C>T
NM_001154458.3   c.-65C>T
NM_001154458.2   c.-65C>T
XM_011522379.3   c.-268C>T|SEQ=[G/A]|GENE=SEPTIN12
SMIM22   440335

rs1800629

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

NC_000006.12   g.31575254G>A
NC_000006.11   g.31543031G>A
NG_007462.1   g.4682G>A
NG_012010.1   g.8156G>A
NT_113891.3   g.3052541A>G
NT_113891.2   g.3052647A>G
NT_167246.2   g.2880295G>A
NT_167246.1   g.2885915G>A
NT_167249.2   g.2874534G>A
NT_167249.1   g.2873832G>A
NT  

rs1799964

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

NC_000006.12   g.31574531T>C
NC_000006.11   g.31542308T>C
NG_007462.1   g.3959T>C
NG_012010.1   g.7433T>C
NT_113891.3   g.3051818T>C
NT_113891.2   g.3051924T>C
NT_167246.2   g.2879572T>C
NT_167246.1   g.2885192T>C
NT_167249.2   g.2873811T>C
NT_167249.1   g.2873109T>C
NT  

rs1799724

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

NC_000006.12   g.31574705C>T
NC_000006.11   g.31542482C>T
NG_007462.1   g.4133C>T
NG_012010.1   g.7607C>T
NT_113891.3   g.3051992C>T
NT_113891.2   g.3052098C>T
NT_167246.2   g.2879746C>T
NT_167246.1   g.2885366C>T
NT_167249.2   g.2873985C>T
NT_167249.1   g.2873283C>T
NT  

rs1800750

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

NC_000006.12   g.31575186G>A
NC_000006.11   g.31542963G>A
NG_007462.1   g.4614G>A
NG_012010.1   g.8088G>A
NT_113891.3   g.3052473G>A
NT_113891.2   g.3052579G>A
NT_167246.2   g.2880227G>A
NT_167246.1   g.2885847G>A
NT_167249.2   g.2874466G>A
NT_167249.1   g.2873764G>A
NT  

rs361525

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

NC_000006.12   g.31575324G>A
NC_000006.11   g.31543101G>A
NG_007462.1   g.4752G>A
NG_012010.1   g.8226G>A
NT_113891.3   g.3052611G>A
NT_113891.2   g.3052717G>A
NT_167246.2   g.2880365G>A
NT_167246.1   g.2885985G>A
NT_167249.2   g.2874604G>A
NT_167249.1   g.2873902G>A
NT  

rs1164594027

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

NC_000016.10   g.4787507C>T
NC_000016.9   g.4837508C>T
NG_030315.1   g.6015G>A
NM_144605.5   c.139G>A
NM_144605.4   c.139G>A
NM_001154458.3   c.139G>A
NM_001154458.2   c.139G>A
XM_011522379.3   c.-65G>A
XM_006720846.2   c.139G>A
XM_024450155.1   c.139G>A
NP_653206.2   p.G

rs1384271239

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

NC_000016.10   g.4787501C>G
NC_000016.9   g.4837502C>G
NG_030315.1   g.6021G>C
NM_144605.5   c.145G>C
NM_144605.4   c.145G>C
NM_001154458.3   c.145G>C
NM_001154458.2   c.145G>C
XM_011522379.3   c.-59G>C
XM_006720846.2   c.145G>C
XM_024450155.1   c.145G>C
NP_653206.2   p.G

rs1452958171

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

NC_000016.10   g.4786019G>A
NC_000016.9   g.4836020G>A
NG_030315.1   g.7503C>T
NM_144605.5   c.253C>T
NM_144605.4   c.253C>T
NM_001154458.3   c.253C>T
NM_001154458.2   c.253C>T
XM_011522379.3   c.61C>T
XM_006720846.2   c.253C>T
XM_024450155.1   c.253C>T
XM_017022938.1   c

rs6500633

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

NC_000016.10   g.4783550T>C
NC_000016.9   g.4833551T>C
NG_030315.1   g.9972A>G
NM_144605.5   c.638A>G
NM_144605.4   c.638A>G
NM_001154458.3   c.500A>G
NM_001154458.2   c.500A>G
XM_011522379.3   c.446A>G
XM_006720846.2   c.638A>G
XM_024450155.1   c.638A>G
XM_017022938.1  

Protein Summary

• Protein general information: P07327  
  • Name: Alcohol dehydrogenase 1A (EC 1.1.1.1) (Alcohol dehydrogenase subunit alpha)
  • Length: 375  
  • Mass: 39859
• Sequence:

  MSTAGKVIKCKAAVLWELKKPFSIEEVEVAPPKAHEVRIKMVAVGICGTDDHVVSGTMVTPLPVILGHEAAGIVE
  SVGEGVTTVKPGDKVIPLAIPQCGKCRICKNPESNYCLKNDVSNPQGTLQDGTSRFTCRRKPIHHFLGISTFSQY
  TVVDENAVAKIDAASPLEKVCLIGCGFSTGYGSAVNVAKVTPGSTCAVFGLGGVGLSAIMGCKAAGAARIIAVDI
  NKDKFAKAKELGATECINPQDYKKPIQEVLKEMTDGGVDFSFEVIGRLDTMMASLLCCHEACGTSVIVGVPPDSQ
  NLSMNPMLLLTGRTWKGAILGGFKSKECVPKLVADFMAKKFSLDALITHVLPFEKINEGFDLLHSGKSIRTILMF

• Structural information:
  • Interpro: IPR013149  IPR013154  IPR002328  IPR011032  IPR036291   IPR020843  
  • Prosite: PS00059
  • PDB: 1HSO 1U3T
  • PDBsum: 1HSO 1U3T
  • STRING: ENSP00000209668
• Other Databases: GeneCards:  ADH1A  Malacards:  ADH1A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006069	ethanol oxidation	IBA	biological process
GO:0004024	alcohol dehydrogenase activity, zinc-dependent	IBA	molecular function
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: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:0004022	alcohol dehydrogenase (NAD+) activity	IEA	molecular function
GO:0006069	ethanol oxidation	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0017144	drug metabolic process	TAS	biological process
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:0004024	alcohol dehydrogenase activity, zinc-dependent	IDA	molecular function
GO:0006066	alcohol metabolic process	NAS	biological process
GO:0005515	protein binding	IPI	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
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)