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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. This encoded protein, consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, exhibits high activi... See more...
Aliases for ADH1B Gene
Aliases for ADH1B Gene
External Ids for ADH1B Gene
- HGNC: 250
- NCBI Entrez Gene: 125
- Ensembl: ENSG00000196616
- OMIM®: 103720
- UniProtKB/Swiss-Prot: P00325
Previous HGNC Symbols for ADH1B Gene
- ADH2
Previous GeneCards Identifiers for ADH1B Gene
- GC04M100473
- GC04M100451
- GC04M100456
- GC04M100577
- GC04M100226
- GC04M095965
Summaries for ADH1B Gene
-
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. This encoded protein, 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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
GeneCards Summary for ADH1B Gene
ADH1B (Alcohol Dehydrogenase 1B (Class I), Beta Polypeptide) is a Protein Coding gene. Diseases associated with ADH1B include Alcohol Dependence and Fetal Alcohol Syndrome. Among its related pathways are Drug metabolism - cytochrome P450 and Cyclophosphamide Pathway, Pharmacodynamics. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and alcohol dehydrogenase activity, zinc-dependent. An important paralog of this gene is ADH1C.
UniProtKB/Swiss-Prot Summary for ADH1B Gene
-
Catalyzes the NAD-dependent oxidation of all-trans-retinol and its derivatives such as all-trans-4-hydroxyretinol and may participate in retinoid metabolism (PubMed:15369820, PubMed:16787387). In vitro can also catalyzes the NADH-dependent reduction of all-trans-retinal and its derivatives such as all-trans-4-oxoretinal (PubMed:15369820, PubMed:16787387). Catalyzes in the oxidative direction with higher efficiency (PubMed:16787387). Has the same affinity for all-trans-4-hydroxyretinol and all-trans-4-oxoretinal (PubMed:15369820).
Additional gene information for ADH1B Gene
- HGNC (250)
- NCBI Entrez Gene (125)
- Ensembl (ENSG00000196616)
- OMIM® (103720)
- UniProtKB/Swiss-Prot (P00325)
- Open Targets Platform(ENSG00000196616)
- Monarch Initiative
- Search for ADH1B at DataMed
- Search for ADH1B at HumanCyc
No data available for CIViC Summary , Tocris Summary , Rfam classification and piRNA Summary for ADH1B Gene
Genomics for ADH1B Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ADH1B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ADH1B on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ADH1B
- Top Transcription factor binding sites by QIAGEN in the ADH1B gene promoter:
-
- AREB6
- CP2
- GR
- GR-alpha
- Lhx3a
- LHX3b
- p53
Genomic Locations for ADH1B Gene
Latest Assembly
- chr4:99,304,971-99,352,760
- (GRCh38/hg38)
- Size:
- 47,790 bases
- Orientation:
- Minus strand
Previous Assembly
- chr4:100,226,128-100,242,558
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 16,431 bases
- Orientation:
- Minus strand
- chr4:100,226,121-100,242,558
- (GRCh37/hg19 by Ensembl)
- Size:
- 16,438 bases
- Orientation:
- Minus strand
Genomic View for ADH1B Gene
Genes around ADH1B on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 4q23 by HGNC
- 4q23 by Entrez Gene
- 4q23 by Ensembl
ADH1B Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ADH1B Gene
Proteins for ADH1B Gene
-
Protein details for ADH1B Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P00325-ADH1B_HUMAN
- Recommended name:
- All-trans-retinol dehydrogenase [NAD(+)] ADH1B
- Protein Accession:
- P00325
- A8MYN5
- B4DRS9
- B4DVC3
- Q13711
- Q4ZGI9
- Q96KI7
Protein attributes for ADH1B Gene
- Size:
- 375 amino acids
- Molecular mass:
- 39855 Da
- Cofactor:
- Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
- Quaternary structure:
-
- Dimer of identical or non-identical chains of three types; alpha, beta and gamma.
- 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.
Three dimensional structures from OCA and Proteopedia for ADH1B Gene
Protein Expression for ADH1B Gene
Selected DME Specific Peptides for ADH1B Gene
- P00325:
-
- CLIGCGF
- EVAPPKA
- FSQYTVV
- GKPIHHFLG
- KINEGFDLL
- ESVGEGVT
- ILGHEAAG
- PQCGKCR
- SVIVGVPP
- EVRIKMV
- GRTWKGA
- GICRTDDH
- GHEAAGIVES
- NKDKFAKAK
- CAVFGLGGVGLS
- CINPQDY
- GKVIKCKAA
- DFMAKKF
- PVILGHE
- LITHVLPFEKIN
- GCGFSTGYG
- AKVTPGS
- CKNPESN
- KPIQEVL
- EMTDGGV
- VMGCKAAGA
- PGDKVIPLF
- DINKDKF
- GATECINP
- TAGKVIKC
- PLEKVCL
- GIVESVG
Post-translational modifications for ADH1B Gene
Other Protein References for ADH1B Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- Novus Biologicals Antibodies for ADH1B
-
Abcam antibodies for ADH1B
- Invitrogen Antibodies for ADH1B (AFLGC-ADH1B)
-
Biorbyt antibodies for ADH1B
-
Boster Bio Antibodies for ADH1B
-
Santa Cruz Biotechnology (SCBT) Antibodies for ADH1B
Protein products for research
-
OriGene Purified Proteins for ADH1B
- Search Origene for MassSpec and Protein Over-expression Lysates for ADH1B
- Origene Custom Protein Services for ADH1B
- antibodies-online: Show 7 available ADH1B Proteins ranked by validation data
- Compare Top ADH1B Proteins
-
Quality Products:
-
Abcam proteins for ADH1B
Assay products for research
-
Abcam assays for ADH1B
Domains & Families for ADH1B Gene
Gene Families for ADH1B Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Enzymes
- FDA approved drug targets
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for ADH1B Gene
- InterPro:
- Blocks:
-
- Alcohol dehydrogenase GroES-like
- Zinc-containing alcohol dehydrogenase
- ProtoNet:
Suggested Antigen Peptide Sequences for ADH1B Gene
- GenScript: Design optimal peptide antigens:
-
- Alcohol dehydrogenase subunit beta (ADH1B_HUMAN)
- cDNA, FLJ79400, highly similar to Alcohol dehydrogenase 1B (EC 1.1.1.1) (B7ZB36_HUMAN)
- cDNA FLJ51682, highly similar to Alcohol dehydrogenase 1B (EC 1.1.1.1) (F5HB16_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P00325- Family:
-
- Belongs to the zinc-containing alcohol dehydrogenase family.
Function for ADH1B Gene
Molecular function for ADH1B Gene
- UniProtKB/Swiss-Prot Function:
- Catalyzes the NAD-dependent oxidation of all-trans-retinol and its derivatives such as all-trans-4-hydroxyretinol and may participate in retinoid metabolism (PubMed:15369820, PubMed:16787387). In vitro can also catalyzes the NADH-dependent reduction of all-trans-retinal and its derivatives such as all-trans-4-oxoretinal (PubMed:15369820, PubMed:16787387). Catalyzes in the oxidative direction with higher efficiency (PubMed:16787387). Has the same affinity for all-trans-4-hydroxyretinol and all-trans-4-oxoretinal (PubMed:15369820).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=all-trans-retinol + NAD(+) = all-trans-retinal + H(+) + NADH; Xref=Rhea:RHEA:21284, ChEBI:CHEBI:15378, ChEBI:CHEBI:17336, ChEBI:CHEBI:17898, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.105; Evidence={ECO:0000269|PubMed:16787387};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=all-trans-4-hydroxyretinol + NAD(+) = all-trans-4-hydroxyretinal + H(+) + NADH; Xref=Rhea:RHEA:55936, ChEBI:CHEBI:15378, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:132259, ChEBI:CHEBI:139346; Evidence={ECO:0000269|PubMed:15369820};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=all-trans-4-oxoretinol + NAD(+) = all-trans-4-oxoretinal + H(+) + NADH; Xref=Rhea:RHEA:60632, ChEBI:CHEBI:15378, ChEBI:CHEBI:44597, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:139347; Evidence={ECO:0000269|PubMed:15369820};.
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=4 uM for all-trans-4-hydroxyretinol (in allele ADH1B*1) {ECO:0000269|PubMed:15369820}; KM=25 uM for all-trans-4-oxoretinal (in allele ADH1B*1) {ECO:0000269|PubMed:15369820}; KM=11 uM for all-trans-4-hydroxyretinol (in allele ADH1B*2) {ECO:0000269|PubMed:15369820}; KM=27 uM for all-trans-4-oxoretinal (in allele ADH1B*2) {ECO:0000269|PubMed:15369820}; KM=24 uM for all-trans-3,4-didehydroretinol(in allele ADH1B*2) {ECO:0000269|PubMed:15369820}; KM=25 uM for all-trans-3,4-didehydroretinal(in allele ADH1B*2) {ECO:0000269|PubMed:15369820}; KM=0.4 uM for all-trans-retinaldehyde (in allele ADH1B*2) {ECO:0000269|PubMed:16787387}; KM=0.3 uM for all-trans-retinol (in allele ADH1B*2) {ECO:0000269|PubMed:16787387};
Enzyme Numbers (IUBMB) for ADH1B Gene
Phenotypes From GWAS Catalog for ADH1B Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004024 | alcohol dehydrogenase activity, zinc-dependent | IDA | 9982 |
| GO:0004745 | retinol dehydrogenase activity | IEA,IDA | 15369820 |
| GO:0008270 | zinc ion binding | IEA,IDA | 9982 |
| GO:0016491 | oxidoreductase activity | IEA | -- |
| GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for ADH1B Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for ADH1B - Starting at $85 >
- * ADH1B CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for ADH1B
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ADH1B
-
Santa Cruz Biotechnology (SCBT) CRISPR for ADH1B
miRNA for ADH1B Gene
- miRTarBase miRNAs that target ADH1B
-
- hsa-miR-1277-5p (MIRT504583)
- hsa-miR-190a-3p (MIRT504584)
- hsa-miR-4758-3p (MIRT504585)
- hsa-miR-3189-5p (MIRT504586)
- hsa-miR-5699-5p (MIRT504587)
- hsa-miR-5011-5p (MIRT504588)
- hsa-miR-4280 (MIRT504589)
- hsa-miR-98-3p (MIRT518099)
- hsa-let-7f-1-3p (MIRT518100)
- hsa-let-7b-3p (MIRT518101)
- hsa-let-7a-3p (MIRT518102)
- hsa-miR-4705 (MIRT518103)
- hsa-miR-4666a-3p (MIRT518104)
- hsa-miR-5580-3p (MIRT518105)
- hsa-miR-34b-3p (MIRT518106)
- hsa-miR-381-3p (MIRT518107)
- hsa-miR-300 (MIRT518108)
- hsa-miR-3149 (MIRT551501)
- hsa-miR-297 (MIRT551502)
- hsa-miR-568 (MIRT551503)
- hsa-miR-3924 (MIRT551504)
- hsa-miR-223-5p (MIRT551505)
- hsa-miR-567 (MIRT551506)
- hsa-miR-511-3p (MIRT551507)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ADH1B
- Browse OriGene Inhibitory RNA Products For ADH1B
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADH1B
Clone products for research
- Applied Biological Materials (abm): Clones for ADH1B - Starting at $45 >
- * ADH1B as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ADH1B
Cell Lines for research
-
Horizon Cell Lines for ADH1B
No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for ADH1B Gene
Localization for ADH1B Gene
Subcellular locations from UniProtKB/Swiss-Prot for ADH1B Gene
- Cytoplasm.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| plasma membrane | 4 |
| nucleus | 4 |
| extracellular | 2 |
| mitochondrion | 2 |
| peroxisome | 2 |
| cytoskeleton | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Cytosol (2)
- Plasma membrane (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | IDA,TAS | -- |
| GO:0005886 | plasma membrane | IDA | -- |
Pathways & Interactions for ADH1B Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Drug metabolism - cytochrome P450 | ||
| 2 | Cytochrome P450 - arranged by substrate type | ||
| 3 | Metabolism |
.40
|
|
| 4 | Phenylalanine metabolism |
Tyrosine metabolism p.1 (dopamine)
.32
|
|
| 5 | Cyclophosphamide Pathway, Pharmacodynamics | ||
Pathways by source for ADH1B Gene
6 BioSystems pathways for ADH1B Gene
4 Reactome pathways for ADH1B Gene
8 KEGG pathways for ADH1B Gene
1 GeneGo (Thomson Reuters) pathway for ADH1B Gene
- Tyrosine metabolism p.1 (dopamine)
1 Cell Signaling Technology pathway for ADH1B Gene
Interacting Proteins for ADH1B Gene
GPS-Prot Interaction Network for ADH1B
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001523 | retinoid metabolic process | IDA | 15369820 |
| GO:0006069 | ethanol oxidation | TAS | -- |
| GO:0042572 | retinol metabolic process | IBA | 21873635 |
| GO:0042573 | retinoic acid metabolic process | IBA | 21873635 |
| GO:0055114 | oxidation-reduction process | IEA | -- |
No data available for SIGNOR curated interactions for ADH1B Gene
Drugs & Compounds for ADH1B Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Ethanol | Approved | Pharma | Enzyme, substrate | 3481 | ||
| Fomepizole | Approved, Vet_approved | Pharma | Target, inhibitor | 5 | ||
| Glycerol | Approved, Investigational | Pharma | Target | 205 | ||
| NADH | Approved | Nutra | Target, Enzyme, substrate | 0 | ||
| Vitamin A | Approved, Vet_approved | Nutra | 732 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 1-Hexanol |
|
111-27-3 |
|
|||
| 1-Pentanol |
|
71-41-0 |
|
|||
| 2,2,2-Trichloroethanol |
|
115-20-8 |
|
|||
| 2-Phenyl-1,3-propanediol monocarbamate |
|
|
||||
| 3,4-Dihydroxymandelaldehyde |
|
13023-73-9 |
|
Transcripts for ADH1B Gene
mRNA/cDNA for ADH1B Gene
- 2 REFSEQ mRNAs :
- 19 NCBI additional mRNA sequence :
- 7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000305046 4067 nts (view in UCSC)
- ENST00000504498 694 nts (view in UCSC)
- ENST00000506651 1667 nts (view in UCSC)
- ENST00000515694 3820 nts (view in UCSC)
- ENST00000625860 4059 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for ADH1B - Starting at $85 >
- * ADH1B CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for ADH1B
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ADH1B
-
Santa Cruz Biotechnology (SCBT) CRISPR for ADH1B
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ADH1B
- Browse OriGene Inhibitory RNA Products For ADH1B
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADH1B
Clone products for research
- Applied Biological Materials (abm): Clones for ADH1B - Starting at $45 >
- * ADH1B as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ADH1B
Relevant External Links for ADH1B Gene
- GeneLoc Exon Structure for
- ADH1B
Expression for ADH1B Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Epidermis (Integumentary System)
- Basal Keratinocytes Embryonic Epidermis
-
Epithelial Cells
- Basal Keratinocytes Embryonic Epidermis
-
Hair
- Basal Keratinocytes Embryonic Epidermis
- Adipose (Muscoskeletal System)
- Lung (Respiratory System)
-
Liver (Hepatobiliary System)
-
Ovary (Reproductive System)
mRNA differential expression in normal tissues according to GTEx for ADH1B Gene
This gene is overexpressed in Liver (x7.6), Adipose - Subcutaneous (x7.1), Adipose - Visceral (Omentum) (x6.3), and Breast - Mammary Tissue (x4.2).
This gene is overexpressed in Nasopharynx (18.6), Liver (10.7), Liver, secretome (9.8), and Gallbladder (6.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ADH1B Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ADH1B
SOURCE GeneReport for Unigene cluster for ADH1B Gene:
Hs.4Evidence on tissue expression from TISSUES for ADH1B Gene
- Liver(5)
- Intestine(4.8)
- Heart(3.8)
- Lung(3.6)
- Nervous system(2.8)
- Stomach(2.7)
- Skin(2.7)
- Muscle(2.7)
- Kidney(2.6)
- Adrenal gland(2.6)
- Gall bladder(2.4)
- Spleen(2.1)
- Blood(2)
Primer products for research
-
OriGene qPCR primer pairs for ADH1B
-
OriGene qPCR primer pairs and template standards for ADH1B
Gene Expression Assays for research
No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ADH1B Gene
Orthologs for ADH1B Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ADH1B 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToMany | |
| Mouse (Mus musculus) |
Mammalia | Adh1 31 |
|
OneToMany | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| Cow (Bos Taurus) |
Mammalia | -- 31 |
|
OneToMany | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| Chicken (Gallus gallus) |
Aves | -- 31 |
|
OneToMany | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
| -- 31 |
|
ManyToMany | |||
| -- 31 |
|
ManyToMany | |||
| -- 31 |
|
ManyToMany | |||
| -- 31 |
|
ManyToMany | |||
| -- 31 |
|
ManyToMany | |||
| -- 31 |
|
ManyToMany | |||
| -- 31 |
|
ManyToMany | |||
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | adh6 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC68507 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | zgc:63568 31 |
|
ManyToMany | |
| zgc:77938 31 |
|
ManyToMany | |||
| adh8a 31 |
|
ManyToMany | |||
| adh8b 31 |
|
ManyToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Fdh 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | H24K24.3 31 |
|
ManyToMany | |
| Y50D4C.2 31 |
|
ManyToMany | |||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SFA1 31 |
|
OneToMany | |
| ADH1 33 |
|
|
|||
| Wheat (Triticum aestivum) |
Liliopsida | Ta.10015 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.1497 31 |
|
OneToMany |
- Species where no ortholog for ADH1B was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rat (Rattus norvegicus)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
Evolution for ADH1B Gene
- ENSEMBL:
- Gene Tree for ADH1B (if available)
- TreeFam:
- Gene Tree for ADH1B (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ADH1B: view image
Paralogs for ADH1B Gene
Paralogs for ADH1B Gene
(7) SIMAP similar genes for ADH1B Gene using alignment to 3 proteins:
- ADH1B_HUMAN
- A8MYN5_HUMAN
- D6RHZ6_HUMAN
Variants for ADH1B Gene
Polymorphic Variants from UniProtKB/Swiss-Prot for ADH1B Gene
- ADH1B_HUMAN-P00325
- Three alleles are known: ADH1B*1 (ADH2*1) corresponding to variant beta-1, ADH1B*2 (ADH2*2) corresponding to variant beta-2, ADH1B*3 (ADH2*3) corresponding to variant beta-3. The sequence shown is that of allele ADH1B*1. The ADH1B*2 allele frequency in orientals is approximately 75%, whereas it is less than 5% in most Caucasian populations. ADH1B variations have been associated with protection against alcohol dependence and alcohol-related aerodigestive tract cancer [MIM:103720].
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ADH1B Gene
| SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs113075608 | Benign: not provided | 99,318,859(-) |
A/G NM_000668.6(ADH1B):c.46T>C (p.Trp16Arg) |
MISSENSE_VARIANT,FIVE_PRIME_UTR | |
| rs1229984 | Protective: Alcohol dependence; Aerodigestive tract cancer, squamous cell, alcohol-related, protection against. - | 99,318,162(-) |
T/.p.Arg48His NM_000668.5(ADH1B):c.143A= (p.His48=) |
NO_SEQUENCE_ALTERATION | |
| rs142861273 | Likely Benign: not provided | 99,315,931(-) |
C/T NM_000668.6(ADH1B):c.534G>A (p.Ser178=) |
SYNONYMOUS | |
| rs2018417 | Benign: not provided | 99,313,983(-) |
C/A NM_000668.6(ADH1B):c.666G>T (p.Ala222=) |
SYNONYMOUS | |
| rs2066702 | Protective: Alcohol dependence. - | 99,307,860(-) |
G/Ap.Arg370Cys NM_000668.6(ADH1B):c.1108C>T (p.Arg370Cys) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv5345n100 | CNV | gain | 25217958 |
| esv2659036 | CNV | deletion | 23128226 |
| nsv1002809 | CNV | gain | 25217958 |
| nsv966300 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
91.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.03;
68.61% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ADH1B Gene
SNP Genotyping and Copy Number Assays for research
Disorders for ADH1B Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| alcohol dependence |
|
|
| fetal alcohol syndrome |
|
|
| alcoholic liver cirrhosis |
|
|
| alcoholic pancreatitis |
|
|
| alcohol use disorder |
|
|
Search ADH1B in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for ADH1B
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for ADH1B Gene
Publications for ADH1B Gene
- Alcohol dehydrogenase-2 and aldehyde dehydrogenase-2 genotypes, alcohol drinking and the risk for esophageal cancer in a Chinese population. (PMID: 20010786) Ding JH … Yao GH (Journal of human genetics 2010) 3 23 41
- Alcohol dehydrogenase 2 genotype and risk for migraine. (PMID: 19486361) García-Martín E … Jiménez-Jiménez FJ (Headache 2010) 3 23 41
- Genetic polymorphism of alcohol-metabolizing enzyme and alcohol dependence in Polish men. (PMID: 20401433) Cichoz-Lach H … Lis E (Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas 2010) 3 23 41
- CYP2A13, ADH1B, and ADH1C gene polymorphisms and pancreatic cancer risk. (PMID: 19812523) Mohelnikova-Duchonova B … Soucek P (Pancreas 2010) 3 23 41
- Comparison of genetic polymorphisms of CYP2E1, ADH2, and ALDH2 genes involved in alcohol metabolism in Koreans and four other ethnic groups. (PMID: 19250143) Kang TS … Roh J (Journal of clinical pharmacy and therapeutics 2009) 3 23 41
ExternalLinks
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