• Gene id: 128

Gene Summary

• Gene Symbol: ADH5   Gene   UCSC   Ensembl
• Aliases: ADH-3, ADHX, FALDH, FDH, GSH-FDH, GSNOR, HEL-S-60p
• Gene name: alcohol dehydrogenase 5 (class III), chi polypeptide
• Alternate names: alcohol dehydrogenase class-3, S-(hydroxymethyl)glutathione dehydrogenase, S-nitrosoglutathione reductase, alcohol dehydrogenase (class III), chi polypeptide, alcohol dehydrogenase class chi chain, alcohol dehydrogenase class-III, epididymis secretory sperm bin,
• Gene location: 4q23 (10503355: 10486124)     Exons: 9     NC_000019.10
• Gene summary(Entrez): This gene encodes a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. The encoded protein for
• OMIM: 103710

SNPs

rs587777160

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

NC_000020.11   g.440344C>T
NC_000020.10   g.420988C>T
NG_034082.1   g.27210G>A
NM_144628.3   c.672G>A
NM_144628.4   c.672G>A
NM_144628.2   c.672G>A
NR_111901.1   n.820G>A
XM_006723540.3   c.486G>A
XM_005260661.1   c.672G>A
XM_017027645.1   c.486G>A
NP_653229.1   p.Trp224T

rs587777159

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

NC_000020.11   g.442029_442030del
NC_000020.10   g.422673_422674del
NG_034082.1   g.25525_25526del
NM_144628.3   c.352_353del
NM_144628.4   c.352_353del
NM_144628.2   c.352_353del
NR_111901.1   n.500_501del
XM_006723540.3   c.166_167del
XM_005260661.1   c.352_353del
X  

rs587777158

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

NC_000020.11   g.445095G>A
NC_000020.10   g.425739G>A
NG_034082.1   g.22459C>T
NM_144628.3   c.292C>T
NM_144628.4   c.292C>T
NM_144628.2   c.292C>T
NR_111901.1   n.440C>T
XM_006723540.3   c.106C>T
XM_005260661.1   c.292C>T
XM_017027645.1   c.106C>T
NP_653229.1   p.Gln98Te

rs587777157

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

NC_000020.11   g.447946G>A
NC_000020.10   g.428590G>A
NG_034082.1   g.19608C>T
NM_144628.3   c.199C>T
NM_144628.4   c.199C>T
NM_144628.2   c.199C>T
NR_111901.1   n.347C>T
XM_005260661.1   c.199C>T
NP_653229.1   p.Arg67Ter
XP_005260718.1   p.Arg67Ter|SEQ=[G/A]|GENE=TBC1D

rs2656927

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

NC_000019.10   g.4908263C>T
NC_000019.9   g.4908275C>T
NG_033256.2   g.10184C>T|SEQ=[C/T]|GENE=UHRF1
ARRDC5   645432

rs8103849

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

NC_000019.10   g.4909617C>G
NC_000019.9   g.4909629C>G
NG_033256.2   g.11538C>G
NM_001048201.3   c.-49C>G
NM_001048201.2   c.-49C>G
NM_001048201.1   c.-49C>G
XM_011527942.2   c.-49C>G|SEQ=[C/G]|GENE=UHRF1
ARRDC5   645432

rs3788862

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

NC_000023.11   g.43658116A>C
NC_000023.11   g.43658116A>G
NC_000023.10   g.43517364A>C
NC_000023.10   g.43517364A>G
NG_008957.2   g.6956A>C
NG_008957.2   g.6956A>G|SEQ=[A/C/G]|GENE=MAOA

Protein Summary

• Protein general information: P11766  
  • Name: Alcohol dehydrogenase class 3 (EC 1.1.1.1) (Alcohol dehydrogenase 5) (Alcohol dehydrogenase class chi chain) (Alcohol dehydrogenase class III) (Glutathione dependent formaldehyde dehydrogenase) (FALDH) (FDH) (GSH FDH) (EC 1.1.1. ) (S (hydroxymethyl)glutat
  • Length: 374  
  • Mass: 39724
• Sequence:

  MANEVIKCKAAVAWEAGKPLSIEEIEVAPPKAHEVRIKIIATAVCHTDAYTLSGADPEGCFPVILGHEGAGIVES
  VGEGVTKLKAGDTVIPLYIPQCGECKFCLNPKTNLCQKIRVTQGKGLMPDGTSRFTCKGKTILHYMGTSTFSEYT
  VVADISVAKIDPLAPLDKVCLLGCGISTGYGAAVNTAKLEPGSVCAVFGLGGVGLAVIMGCKVAGASRIIGVDIN
  KDKFARAKEFGATECINPQDFSKPIQEVLIEMTDGGVDYSFECIGNVKVMRAALEACHKGWGVSVVVGVAASGEE
  IATRPFQLVTGRTWKGTAFGGWKSVESVPKLVSEYMSKKIKVDEFVTHNLSFDEINKAFELMHSGKSIRTVVKI

• Structural information:
  • Interpro: IPR014183  IPR013149  IPR013154  IPR002328  IPR011032   IPR036291  
  • Prosite: PS00059
  • CDD: cd08300
  • PDB: 1M6H 1M6W 1MA0 1MC5 1MP0 1TEH 2FZE 2FZW 3QJ5
  • PDBsum: 1M6H 1M6W 1MA0 1MC5 1MP0 1TEH 2FZE 2FZW 3QJ5
  • STRING: ENSP00000296412
• Other Databases: GeneCards:  ADH5  Malacards:  ADH5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004024	alcohol dehydrogenase activity, zinc-dependent	IBA	molecular function
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:0010430	fatty acid omega-oxidation	IDA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0051903	S-(hydroxymethyl)glutathione dehydrogenase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
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:0005737	cytoplasm	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0004022	alcohol dehydrogenase (NAD+) activity	IEA	molecular function
GO:0051903	S-(hydroxymethyl)glutathione dehydrogenase activity	IEA	molecular function
GO:0006069	ethanol oxidation	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0051903	S-(hydroxymethyl)glutathione dehydrogenase activity	IEA	molecular function
GO:0051409	response to nitrosative stress	IEA	biological process
GO:0046294	formaldehyde catabolic process	IEA	biological process
GO:0045777	positive regulation of blood pressure	IEA	biological process
GO:0004022	alcohol dehydrogenase (NAD+) activity	IEA	molecular function
GO:0003016	respiratory system process	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0018119	peptidyl-cysteine S-nitrosylation	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0001523	retinoid metabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0022900	electron transport chain	IEA	biological process
GO:0018467	formaldehyde dehydrogenase activity	IDA	molecular function
GO:0008270	zinc ion binding	IDA	molecular function
GO:0005504	fatty acid binding	IDA	molecular function
GO:0051775	response to redox state	IDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0009055	electron transfer activity	TAS	molecular function
GO:0051903	S-(hydroxymethyl)glutathione dehydrogenase activity	TAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01200	Carbon metabolism
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
Asthma	PMID:19395503
Asthma	PMID:19514054
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)