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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ADH1C Gene

protein-coding   GIFtS: 60
GCID: GC04M100257

Alcohol Dehydrogenase 1C (Class I), Gamma Polypeptide


(Previous symbol: ADH3)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Alcohol Dehydrogenase 1C (Class I), Gamma Polypeptide1 2     Alcohol Dehydrogenase 1C2
ADH31 2 3 5     Alcohol Dehydrogenase 3 (Class I), Gamma Polypeptide2
Alcohol Dehydrogenase Subunit Gamma2 3     Aldehyde Reductase2
EC 1.1.1.13 8     EC 1.1.18
ADH, Gamma Subunit2     

External Ids:    HGNC: 2511   Entrez Gene: 1262   Ensembl: ENSG000002481447   OMIM: 1037305   UniProtKB: P003263   

Export aliases for ADH1C gene to outside databases

Previous GC identifers: GC04M100504 GC04M100386 GC04M100452 GC04M100457 GC04M100614 GC04M095995


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ADH1C Gene:
This gene encodes class I alcohol dehydrogenase, gamma 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, hydroxysteroids, and lipid peroxidation products. Class I alcohol dehydrogenase, consisting
of several homo- and heterodimers of alpha, beta, and gamma subunits, exhibits high activity for ethanol
oxidation and plays a major role in ethanol catabolism. Three genes encoding alpha, beta and gamma subunits are
tandemly organized in a genomic segment as a gene cluster. (provided by RefSeq, Jul 2008)

GeneCards Summary for ADH1C Gene: 
ADH1C (alcohol dehydrogenase 1C (class I), gamma polypeptide) is a protein-coding gene. Diseases associated with ADH1C include liver cirrhosis, and alcoholic liver cirrhosis, and among its related super-pathways are Ifosfamide Pathway, Pharmacodynamics and Metabolic pathways. GO annotations related to this gene include alcohol dehydrogenase (NAD) activity and nucleotide binding. An important paralog of this gene is ADH6.

Gene Wiki entry for ADH1C Gene

PharmGKB "VIP" summary for ADH1C


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.2  NT_016354.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ADH1C gene promoter:
         POU2F2 (Oct-2.1)   Oct-B1   oct-B3   oct-B2   CUTL1   POU2F2   FOXC1   POU2F1   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidADH1C promoter sequence
   Search SABiosciences Chromatin IP Primers for ADH1C

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ADH1C


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q23   Ensembl cytogenetic band:  4q23   HGNC cytogenetic band: 4q23

ADH1C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ADH1C gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M100257:  view genomic region     (about GC identifiers)

Start:
100,257,649 bp from pter      End:
100,274,184 bp from pter
Size:
16,536 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ADH1G_HUMAN, P00326 (See protein sequence)
Recommended Name: Alcohol dehydrogenase 1C  
Size: 375 amino acids; 39868 Da
Cofactor: Binds 2 zinc ions per subunit
Subunit: Dimer of identical or non-identical chains of three types; alpha, beta and gamma
Subcellular location: Cytoplasm
Miscellaneous: There are 7 different ADH's isozymes in human: three belongs to class-I: alpha, beta, and gamma,
one to class-II: pi, one to class-III: chi, one to class-IV: ADH7 and one to class-V: ADH6
Caution: The reference genome assembly, GRCh37, describes a non-functional copy of that gene with a stop codon at
position 78. However, this premature stop codon is not present in available mRNAs
3 PDB 3D structures from and Proteopedia for ADH1C:
1DDA (3D)        1HT0 (3D)        1U3W (3D)    
Secondary accessions: Q4PJ18 Q5WRV0 Q6LBW4 Q6NWV0 Q6NZA7

Explore the universe of human proteins at neXtProt for ADH1C: NX_P00326

Explore proteomics data for ADH1C at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P00326

  • 4/32 DME Specific Peptides for ADH1C (P00326) (see all 32)
     FSQYTVV  EVAPPKA  CLIGCGF  VPKLVAD 

    ADH1C Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ADH1C Protein Expression
    REFSEQ proteins: NP_000660.1  
    ENSEMBL proteins: 
     ENSP00000426083  
    Reactome Protein details: P00326
    Human Recombinant Protein Products for ADH1C: 
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    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    ADH1C for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ADH: Alcohol dehydrogenases

    5/6 InterPro protein domains (see all 6):
     IPR013149 ADH_C
     IPR011032 GroES-like
     IPR016040 NAD(P)-bd_dom
     IPR002328 ADH_Zn_CS
     IPR013154 ADH_GroES-like

    Graphical View of Domain Structure for InterPro Entry P00326

    ProtoNet protein and cluster: P00326

    2 Blocks protein domains:
    IPB002328 Zinc-containing alcohol dehydrogenase
    IPB013154 Alcohol dehydrogenase GroES-like


    UniProtKB/Swiss-Prot: ADH1G_HUMAN, P00326
    Similarity: Belongs to the zinc-containing alcohol dehydrogenase family


    ADH1C for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ADH1G_HUMAN, P00326
    Catalytic activity: An alcohol + NAD(+) = an aldehyde or ketone + NADH

         Enzyme Numbers (IUBMB): EC 1.1.1.11 2 EC 1.1.12

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004022alcohol dehydrogenase (NAD) activity IDA6391957
    GO:0008270zinc ion binding IEA--
         
    ADH1C for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ADH1C:
     Decreased viability with carbo 

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Adh1):
     growth/size  homeostasis/metabolism  mortality/aging 

    ADH1C for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ADH1C: Adh1tm1Gdu Adh1tm2Gdu

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ADH1C 
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    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ADH1C About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Ifosfamide Pathway, Pharmacodynamics
    Ifosfamide Pathway, Pharmacodynamics0.72
    Ethanol oxidation0.50
    Cyclophosphamide Pathway, Pharmacodynamics0.72
    Fatty Acid Omega Oxidation0.47
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Drug metabolism - cytochrome P450
    Metabolism of xenobiotics by cytochrome P4500.77
    Drug metabolism - cytochrome P4500.73
    Chemical carcinogenesis0.77
    Retinol metabolism0.39
    4Cytochrome P450 - arranged by substrate type
    Phase 1 - Functionalization of compounds0.74
    5Biological oxidations
    Biological oxidations0.55

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for ADH1C
        Fatty Acid Omega Oxidation


    4        Reactome Pathways for ADH1C
        Ethanol oxidation
    Metabolism
    Biological oxidations
    Phase 1 - Functionalization of compounds

    3 PharmGKB Pathways for ADH1C
        Abacavir Pathway, Pharmacokinetics/Pharmacodynamics
    Cyclophosphamide Pathway, Pharmacodynamics
    Ifosfamide Pathway, Pharmacodynamics

    5/8         Kegg Pathways  (Kegg details for ADH1C) (see all 8):
        Glycolysis / Gluconeogenesis
    Fatty acid degradation
    Tyrosine metabolism
    Retinol metabolism
    Metabolism of xenobiotics by cytochrome P450


    ADH1C for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ADH1C

    1 Interacting protein for ADH1C (P003263) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAEP622583I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006069ethanol oxidation TAS--
    GO:0006805xenobiotic metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    ADH1C for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ADH1C for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ADH1C (ADH1G)

    10/17 HMDB Compounds for ADH1C (see all 17)    About this table
    CompoundSynonyms CAS #PubMed Ids
    3,4-Dihydroxymandelaldehyde3,4-Dihydroxyphenylglycolaldehyde (see all 4)13023-73-9--
    3,4-Dihydroxyphenylglycol(3,4-Dihydroxyphenyl)ethylene glycol (see all 9)28822-73-3--
    3a,7a-Dihydroxy-5b-cholestan-26-al3a,7a-Dihydroxy-5b-cholestan-26-al;3alpha,7alpha-dihydroxy-5beta-cholestan-27-al;5beta-cholestane-3alpha,7alpha-diol-27-al;5beta-cholestan-27-al-3alpha,7alpha-diol ----
    9-cis-Retinal9-cis-Retinal (see all 5)514-85-2--
    Acetaldehydeacetaldehyde (see all 5)75-07-0--
    Betaine aldehyde(Formylmethyl)trimethylammonium (see all 8)7418-61-3--
    Choline(2-Hydroxyethyl)trimethyl ammonium (see all 19)62-49-7--
    Ethanol1-Hydroxyethane (see all 57)64-17-5--
    Glycerol1,2,3-Trihydroxypropane (see all 22)56-81-5--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--

    10/20 DrugBank Compounds for ADH1C (see all 20)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    EthanolAbsolute Alcohol (see all 34)64-17-5targetagonist18688716 21329681 21166830 19618839
    Fomepizole4-methylpyrazole (see all 4)7554-65-6targetinhibitor16946442 16871118 19458366 11391066
    (R)-N-(1-Methyl-Hexyl)-Formamide-- --target--17139284 17016423 10592235
    2,3,4,5,6-Pentafluorobenzyl Alcohol-- 440-60-8target--17139284 17016423 10592235
    2,3-Difluorobenzyl Alcohol-- --target--17139284 17016423 10592235
    2,4-Difluorobenzyl Alcohol 2,4-Difluoro-1-(Hydroxymethyl)Benzene-- --target--17139284 17016423 10592235
    2-Ethoxyethanol-- 110-80-5target--17139284 17016423 10592235
    4-Iodopyrazole-- 3469-69-0target--17139284 17016423 10592235
    5-Beta-D-Ribofuranosylnicotinamide Adenine Dinucleotide-- --target--17139284 17016423 10592235
    Cpad-- --target--17139284 17016423 10592235

    7 Novoseek inferred chemical compound relationships for ADH1C gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acetaldehyde 80.9 11 11700261 (2), 19120062 (1), 16930209 (1), 7943668 (1) (see all 8)
    rsai 72.3 3 10925369 (1), 15318112 (1), 9731720 (1)
    ethanol 62.5 18 15602753 (2), 20101753 (2), 11700261 (2), 19120062 (1) (see all 12)
    formaldehyde 49.7 28 19460944 (3), 19963048 (2), 19011746 (2), 11387027 (1) (see all 8)
    p002 21 1 11207350 (1)
    vitamin a 9.75 1 15602753 (1)
    oligonucleotide 0 1 9063814 (1)

    Search CenterWatch for drugs/clinical trials and news about ADH1C / ADH1G

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ADH1C gene: 
    NM_000669.3  

    Unigene Cluster for ADH1C:

    Alcohol dehydrogenase 1C (class I), gamma polypeptide
    Hs.654537  [show with all ESTs]
    Unigene Representative Sequence: NM_000669
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000515683(uc021xqi.1) ENST00000510055 ENST00000511397 ENST00000505942


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    Additional mRNA sequence: 

    BC062476.1 BC066227.1 BC066228.1 BC067419.1 BC067420.1 BC067421.1 BC067422.1 BC074771.2 
    BC074786.2 M12272.1 X04299.1 X04350.1 

    13 DOTS entries:

    DT.100030344  DT.95158774  DT.101985268  DT.415876  DT.100798841  DT.101985267  DT.121224284  DT.100798849 
    DT.91692319  DT.121224280  DT.100798839  DT.121224262  DT.95158779 

    24/475 AceView cDNA sequences (see all 475):

    AV681652 AI612740 BX472538 CB138273 CB132385 BM856511 CD014078 BX119792 
    AI275907 CB141250 BU687891 D00137 AV709059 CD519469 CB139103 CB137629 
    CA427955 CB148959 AU122403 CD518523 CB154296 AI796953 CB135731 CD172162 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ADH1C expression in normal human tissues (normalized intensities)      ADH1C embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATCTGGAGCA
    ADH1C Expression
    About this image


    ADH1C expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/16 selected tissues (see all 16) fully expand
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Testicular Interstitial Cells Testis Interstitium
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 2 entries
             visceral organ   
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Renal Collecting Duct System
     
     Colon (Gastrointestinal Tract)
             rectum   

    See ADH1C Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ADH1C

    SOURCE GeneReport for Unigene cluster: Hs.654537
        SABiosciences Expression via Pathway-Focused PCR Arrays including ADH1C: 
              Drug Metabolism: Phase I Enzymes in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Drug Metabolism in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ADH1C gene from 3/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Adh11 , 5 alcohol dehydrogenase 1 (class I)1, 5 82.22(n)1
    85.07(a)1
      3 (64.16 cM)5
    115221  NM_007409.21  NP_031435.11 
     1382609915 
    chicken
    (Gallus gallus)
    Aves ADH1C1 alcohol dehydrogenase 1C (class I), gamma polypeptide 70.6(n)
    74.53(a)
      771920  XM_001234262.2  XP_001234263.2 
    rice
    (Oryza sativa)
    Liliopsida Os.125912 O. sativa mRNA for alcohol dehydrogenase 1 74.27(n)    AK073964.1 


    ENSEMBL Gene Tree for ADH1C (if available)
    TreeFam Gene Tree for ADH1C (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ADH1C gene
    ADH62  ADH42  ADH1A2  ADH1B2  ADH52  ADH72  
    6 SIMAP similar genes for ADH1C using alignment to 1 protein entry:     ADH1G_HUMAN:
    ADH1B    ADH1A    ADH7    ADH5    ADH4    ADH6

    ADH1C for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: ADH1G_HUMAN, P00326
    Polymorphism: Two main alleles are known, ADH3*1 or gamma-1 has Arg-272/Ile-350 while ADH3*2 or gamma-2 has
    Gln-272/Val-350. ADH3*1 is associated with a fast rate of ethanol oxidation and ADH3*2 with a slow rate


    10/509 SNPs in ADH1C are shown (see all 509)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs6981,2,4
    C,F,Hother1100062596(-) CAAATA/G/TTTTTA 2 I V mis128MN NS EA NA WA 3440
    rs16934821,2,4
    C,F,Hother1100065771(+) CAAGCC/TGACCG 2 Q R mis119Minor allele frequency- T:0.22MN NS EA NA 1426
    rs2834131,2
    C,F,Hother1100069996(-) GTGTTG/TGAGAA 2 G * stg135Minor allele frequency- T:0.02NS EA NA MN WA CSA EU 3968
    VAR_0239934
    ----see VAR_0239932 P S mis40--------
    rs665024321,2
    C--95998419(+) GACAA-/CGCC  
            
    CCCCC
    1 -- int10--------
    rs170288601,2
    C,F,H--100059020(+) GAACCT/AAAGTT 1 -- ds500118Minor allele frequency- A:0.04NA NS EA WA 2144
    rs1483273201,2
    --100059027(+) AGTTTA/GTCACA 1 -- ds50010--------
    rs16620321,2
    H--100059084(+) ACTGTA/GAACAA 1 -- ds50014Minor allele frequency- G:0.00NS EA 418
    rs1121068091,2
    F--100059197(+) TCTTCA/CCTTAT 1 -- ds50012Minor allele frequency- C:0.06CSA WA 120
    rs31140461,2
    C,F,O,A,H--100059242(+) TTACCC/TTAGGG 1 -- ds500132Minor allele frequency- T:0.06NA NS EA WA CSA 2354

    HapMap Linkage Disequilibrium report for ADH1C (100257649 - 100274184 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for ADH1C:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2659036CNV Deletion23128226
    nsv528518CNV Loss19592680
    nsv293592CNV Loss16902084
    nsv879656CNV Gain21882294
    nsv879659CNV Gain21882294


    Human Gene Mutation Database (HGMD): ADH1C
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing ADH1C
    DNA2.0 Custom Variant and Variant Library Synthesis for ADH1C

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 103730   
    OMIM disorders: 103780  168600  
    20/41 diseases for ADH1C (see all 41):    About MalaCards
    liver cirrhosis    alcoholic liver cirrhosis    alcohol dependence, protection against    alcoholism
    alcohol dependence    lrrk2-related parkinson disease    pharyngitis    alcohol abuse
    oral cancer    squamous cell carcinoma of the head and neck    drug dependence    coronary heart disease
    acute pancreatitis    liver disease    stomach cancer    laryngitis
    gastric adenocarcinoma    esophageal cancer    oral squamous cell carcinoma    parkinson's disease


    ADH1C for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/28 Novoseek inferred disease relationships for ADH1C gene (see all 28)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alcoholism 77.2 31 15519646 (3), 8773821 (3), 12710951 (2), 15902904 (2) (see all 20)
    pharyngeal cancer 69.1 3 9637146 (1), 10925369 (1), 9390539 (1)
    pancreatitis alcoholic 63 3 8985275 (1), 15220553 (1), 8986224 (1)
    alcoholic cirrhosis 58.5 5 1592339 (2), 15220553 (1), 11748356 (1), 11966948 (1)
    liver diseases alcoholic 57.5 5 15519646 (3), 9731720 (2)
    chronic pancreatitis 48.5 5 16239350 (1), 17454860 (1), 18773092 (1), 11966948 (1) (see all 5)
    pancreatitis 43.1 1 8985275 (1)
    oral cancer 41.7 2 11802217 (1)
    oropharyngeal cancer 41 1 9050916 (1)
    cirrhosis 40.7 7 8985275 (1), 17454860 (1), 1592339 (1), 15519646 (1) (see all 5)

    Genetic Association Database (GAD): ADH1C
    Human Genome Epidemiology (HuGE) Navigator: ADH1C (148 documents)

    Export disorders for ADH1C gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ADH1C gene, integrated from 9 sources (see all 286):
    (articles sorted by number of sources associating them with ADH1C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Effects of polymorphisms in untranslated regions of t he class I alcohol dehydrogenase (ADH) genes on alcohol metabolism in Japanese subjects and transcriptional activity in HepG2 cells. (PubMed id 19618839)1, 4, 7 Nishimura F.T....Saijoh K. (2009)
    2. A prospective study of the effect of alcohol consumption and ADH3 genotype on plasma steroid hormone levels and breast cancer risk. (PubMed id 11045794)1, 4, 9 Hines L.M....Hunter D.J. (2000)
    3. Alcohol dehydrogenase type 3 (ADH3) and the risk of bladder cancer. (PubMed id 11752857)1, 4, 9 van Dijk B....Kiemeney L.A. (2001)
    4. Genetic variation in alcohol dehydrogenase and the beneficial effect of moderate alcohol consumption on myocardial infarction. (PubMed id 11207350)1, 4, 9 Hines L.M....Hunter D.J. (2001)
    5. Oral squamous cell cancer risk in relation to alcohol consumption and alcohol dehydrogenase-3 genotypes. (PubMed id 11700261)1, 4, 9 Schwartz S.M....Chen C. (2001)
    6. Impact of the alcohol-dehydrogenase (ADH) 1C and ADH1B polymorphisms on drinking behavior in nonalcoholic Japanese. (PubMed id 17285601)1, 4, 9 Matsuo K....Tajima K. (2007)
    7. Genetic variation in alcohol dehydrogenase 1C and the beneficial effect of alcohol intake on coronary heart disease risk in the Second Northwick Park Heart Study. (PubMed id 15910847)1, 4, 9 Younis J....Talmud P.J. (2005)
    8. Alcohol consumption and high-density lipoprotein levels: the effect of ADH1C genotype, gender and menopausal status. (PubMed id 16051248)1, 4, 9 Hines L.M....Rimm E.B. (2005)
    9. Alcohol dehydrogenase 3 genotype as a risk factor for upper aerodigestive tract cancers. (PubMed id 14732773)1, 4, 9 Nishimoto I.N....Kowalski L.P. (2004)
    10. Genetic polymorphisms of ADH2, ADH3, CYP4502E1 Dra-I and Pst-I, and ALDH2 in Spanish men: lack of association with alcoholism and alcoholic liver disease. (PubMed id 15519646)1, 4, 9 Vidal F....Richart C. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 126 HGNC: 251 AceView: ADH1AandADH1BandADH1C Ensembl:ENSG00000248144 euGenes: HUgn126
    ECgene: ADH1C Kegg: 126 H-InvDB: ADH1C

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ADH1C Pharmacogenomics, SNPs, Pathways
    NIEHS-SNPshttp://egp.gs.washington.edu/data/adh1c/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ADH1C gene:
    Search GeneIP for patents involving ADH1C

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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