• Gene id: 127

Gene Summary

• Gene Symbol: ADH4   Gene   UCSC   Ensembl
• Aliases: ADH-2, HEL-S-4
• Gene name: alcohol dehydrogenase 4 (class II), pi polypeptide
• Alternate names: all-trans-retinol dehydrogenase [NAD(+)] ADH4, alcohol dehydrogenase class II pi chain, aldehyde reductase, epididymis secretory protein Li 4,
• Gene location: 4q23 (30284596: 30367688)     Exons: 6     NC_000007.14
• Gene summary(Entrez): This gene encodes class II alcohol dehydrogenase 4 pi subunit, which 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, hydroxystero
• OMIM: 103740

SNPs

rs17840762

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

NC_000009.12   g.125241708G>A
NC_000009.11   g.128003987G>A
NG_027761.1   g.4680C>T
NG_063123.1   g.439G>A
XR_001746927.1   n.46G>A|SEQ=[G/A]|GENE=HSPA5
LOC107987127   107987127

rs17840761

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

NC_000009.12   g.125241700G>A
NC_000009.11   g.128003979G>A
NG_027761.1   g.4688C>T
NG_063123.1   g.431G>A
XR_001746927.1   n.38G>A|SEQ=[G/A]|GENE=HSPA5
LOC107987127   107987127

rs3216733

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

NC_000009.12   g.125241516_125241517del
NC_000009.12   g.125241517del
NC_000009.12   g.125241517dup
NC_000009.12   g.125241516_125241517dup
NC_000009.11   g.128003795_128003796del
NC_000009.11   g.128003796del
NC_000009.11   g.128003796dup
NC_000009.11   g.128003795

rs5764698

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

NC_000022.11   g.45354103G>C
NC_000022.11   g.45354103G>T
NC_000022.10   g.45749983G>C
NC_000022.10   g.45749983G>T
NM_148674.5   c.3148C>G
NM_148674.5   c.3148C>A
NM_148674.4   c.3148C>G
NM_148674.4   c.3148C>A
NM_148674.3   c.3148C>G
NM_148674.3   c.3148C>A
XR_244368.  

Protein Summary

• Protein general information: P08319  
  • Name: All trans retinol dehydrogenase [NAD(+)] ADH4 (EC 1.1.1.105) (Alcohol dehydrogenase 4) (Alcohol dehydrogenase class II pi chain)
  • Length: 380  
  • Mass: 40222
• Sequence:

  MGTKGKVIKCKAAIAWEAGKPLCIEEVEVAPPKAHEVRIQIIATSLCHTDATVIDSKFEGLAFPVIVGHEAAGIV
  ESIGPGVTNVKPGDKVIPLYAPLCRKCKFCLSPLTNLCGKISNLKSPASDQQLMEDKTSRFTCKGKPVYHFFGTS
  TFSQYTVVSDINLAKIDDDANLERVCLLGCGFSTGYGAAINNAKVTPGSTCAVFGLGGVGLSAVMGCKAAGASRI
  IGIDINSEKFVKAKALGATDCLNPRDLHKPIQEVIIELTKGGVDFALDCAGGSETMKAALDCTTAGWGSCTFIGV
  AAGSKGLTIFPEELIIGRTINGTFFGGWKSVDSIPKLVTDYKNKKFNLDALVTHTLPFDKISEAFDLMNQGKSVR
  TILIF

• Structural information:
  • Interpro: IPR013149  IPR013154  IPR002328  IPR011032  IPR036291   IPR020843  IPR028632  
  • Prosite: PS00059
  • PDB: 3COS
  • PDBsum: 3COS
  • STRING: ENSP00000265512
• Other Databases: GeneCards:  ADH4  Malacards:  ADH4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051903	S-(hydroxymethyl)glutathione dehydrogenase activity	IBA	molecular function
GO:0046294	formaldehyde catabolic process	IBA	biological process
GO:0008270	zinc ion binding	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0004024	alcohol dehydrogenase activity, zinc-dependent	IBA	molecular function
GO:0042572	retinol metabolic process	IDA	biological process
GO:0004745	retinol dehydrogenase activity	IDA	molecular function
GO:0010430	fatty acid omega-oxidation	IDA	biological process
GO:0004745	retinol dehydrogenase activity	IDA	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0035276	ethanol binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0004024	alcohol dehydrogenase activity, zinc-dependent	IEA	molecular function
GO:0006069	ethanol oxidation	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:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0003960	NADPH:quinone reductase activity	IEA	molecular function
GO:0004022	alcohol dehydrogenase (NAD+) activity	IEA	molecular function
GO:0010430	fatty acid omega-oxidation	IEA	biological process
GO:0046164	alcohol catabolic process	IEA	biological process
GO:1901661	quinone metabolic process	IEA	biological process
GO:0004024	alcohol dehydrogenase activity, zinc-dependent	IEA	molecular function
GO:0004032	alditol:NADP+ 1-oxidoreductase activity	IEA	molecular function
GO:0006067	ethanol metabolic process	IEA	biological process
GO:0006081	cellular aldehyde metabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0008270	zinc ion binding	IDA	molecular function
GO:0006066	alcohol metabolic process	IDA	biological process
GO:0005503	all-trans retinal binding	IDA	molecular function
GO:0004745	retinol dehydrogenase activity	IDA	molecular function
GO:0004745	retinol dehydrogenase activity	IDA	molecular function
GO:0004022	alcohol dehydrogenase (NAD+) activity	IDA	molecular function
GO:0004022	alcohol dehydrogenase (NAD+) activity	IDA	molecular function
GO:0042572	retinol metabolic process	IDA	biological process
GO:0051287	NAD binding	IDA	molecular function
GO:0016620	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	IDA	molecular function
GO:0006081	cellular aldehyde metabolic process	IDA	biological process
GO:0019841	retinol binding	IDA	molecular function
GO:0019115	benzaldehyde dehydrogenase [NAD(P)+] activity	IDA	molecular function
GO:0006069	ethanol oxidation	IDA	biological process
GO:0004024	alcohol dehydrogenase activity, zinc-dependent	IDA	molecular function
GO:0001523	retinoid metabolic process	IDA	biological process
GO:0003960	NADPH:quinone reductase activity	ISS	molecular function
GO:1901661	quinone metabolic process	ISS	biological process
GO:0046164	alcohol catabolic process	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
hsa00830	Retinol metabolism
hsa00010	Glycolysis / Gluconeogenesis
hsa00071	Fatty acid degradation
hsa00350	Tyrosine metabolism

Diseases

Associated diseases	References
Oligozoospermia	MIK: 21989496
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21989496	Oligozoospermia			11 (8 infertile and 3 fertile men)	Male infertility	Microarray