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Aliases for ALDH1B1 Gene

Aliases for ALDH1B1 Gene

  • Aldehyde Dehydrogenase 1 Family Member B1 2 3 5
  • Aldehyde Dehydrogenase 5 3 4
  • ALDH5 3 4
  • ALDHX 3 4
  • Aldehyde Dehydrogenase 1 Family, Member B1 2
  • Aldehyde Dehydrogenase Family 1 Member B1 4
  • Aldehyde Dehydrogenase X, Mitochondrial 3
  • Acetaldehyde Dehydrogenase 5 3
  • ALDH Class 2 3
  • EC 1.2.1.3 4

External Ids for ALDH1B1 Gene

Previous HGNC Symbols for ALDH1B1 Gene

  • ALDH5

Previous GeneCards Identifiers for ALDH1B1 Gene

  • GC09P038704
  • GC09P038562
  • GC09P038382
  • GC09P038345

Summaries for ALDH1B1 Gene

Entrez Gene Summary for ALDH1B1 Gene

  • This protein belongs to the aldehyde dehydrogenases family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. This gene does not contain introns in the coding sequence. The variation of this locus may affect the development of alcohol-related problems. [provided by RefSeq, Jul 2008]

GeneCards Summary for ALDH1B1 Gene

ALDH1B1 (Aldehyde Dehydrogenase 1 Family Member B1) is a Protein Coding gene. Diseases associated with ALDH1B1 include Succinic Semialdehyde Dehydrogenase Deficiency and Gamma-Amino Butyric Acid Metabolism Disorder. Among its related pathways are Glycerolipid metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and aldehyde dehydrogenase (NAD) activity. An important paralog of this gene is ALDH2.

UniProtKB/Swiss-Prot for ALDH1B1 Gene

  • ALDHs play a major role in the detoxification of alcohol-derived acetaldehyde. They are involved in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation.

Gene Wiki entry for ALDH1B1 Gene

Additional gene information for ALDH1B1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALDH1B1 Gene

Genomics for ALDH1B1 Gene

GeneHancer (GH) Regulatory Elements for ALDH1B1 Gene

Promoters and enhancers for ALDH1B1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J038379 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 676.9 -5.4 -5439 15.1 HDGF FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 ALDH1B1 IGFBPL1 SLC25A51 LOC105376040
GH09J038014 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.8 -374.7 -374732 6.5 ATF1 FOXA2 SIN3A FEZF1 ZNF48 RAD21 YY1 ZNF143 RCOR1 FOS SHB TMX2P1 ENSG00000255872 RNU7-124P SLC25A51 ALDH1B1 EXOSC3 GC09M038106 GC09P038069
GH09J037949 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 9.5 -440.1 -440125 6.3 HDGF PKNOX1 FOXA2 MLX ARID4B NEUROD1 SIN3A IRF4 FOS ZNF263 SHB ZCCHC7 EXOSC3 TRMT10B ENSG00000255872 SLC25A51 ALDH1B1 RNU7-124P GC09M038106
GH09J037921 Promoter/Enhancer 1.3 EPDnew ENCODE dbSUPER 10.7 -470.4 -470395 2 CTCF ZFHX2 EGR1 GLIS1 ZFP36 CBFA2T3 ZIC2 EGR2 SHB ENSG00000255872 ALDH1B1 PIR56568 RNU7-124P GC09M038106
GH09J037913 Enhancer 1.3 Ensembl ENCODE dbSUPER 10.3 -478.8 -478763 1 HDGF PKNOX1 ATF1 ARNT ARID4B SIN3A ZNF2 ZNF48 E2F8 ARID2 GC09M038105 EXOSC3 RNU7-124P ENSG00000255872 SHB ALDH1B1 GC09M037954 GC09M038106
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ALDH1B1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ALDH1B1 gene promoter:
  • NF-AT3
  • NF-AT2
  • NF-AT1
  • NF-AT
  • NF-AT4
  • USF2
  • USF-1
  • USF-1:USF-2
  • USF1
  • E2F-1

Genomic Locations for ALDH1B1 Gene

Genomic Locations for ALDH1B1 Gene
chr9:38,392,664-38,398,665
(GRCh38/hg38)
Size:
6,002 bases
Orientation:
Plus strand
chr9:38,392,661-38,398,658
(GRCh37/hg19)
Size:
5,998 bases
Orientation:
Plus strand

Genomic View for ALDH1B1 Gene

Genes around ALDH1B1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALDH1B1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALDH1B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALDH1B1 Gene

Proteins for ALDH1B1 Gene

  • Protein details for ALDH1B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P30837-AL1B1_HUMAN
    Recommended name:
    Aldehyde dehydrogenase X, mitochondrial
    Protein Accession:
    P30837
    Secondary Accessions:
    • B2R8F0
    • Q8WX76
    • Q9BV45

    Protein attributes for ALDH1B1 Gene

    Size:
    517 amino acids
    Molecular mass:
    57206 Da
    Quaternary structure:
    • Homotetramer.

neXtProt entry for ALDH1B1 Gene

Post-translational modifications for ALDH1B1 Gene

  • Ubiquitination at Lys426
  • Modification sites at PhosphoSitePlus

Other Protein References for ALDH1B1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ALDH1B1 Gene

Domains & Families for ALDH1B1 Gene

Gene Families for ALDH1B1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for ALDH1B1 Gene

Graphical View of Domain Structure for InterPro Entry

P30837

UniProtKB/Swiss-Prot:

AL1B1_HUMAN :
  • Belongs to the aldehyde dehydrogenase family.
Family:
  • Belongs to the aldehyde dehydrogenase family.
genes like me logo Genes that share domains with ALDH1B1: view

Function for ALDH1B1 Gene

Molecular function for ALDH1B1 Gene

UniProtKB/Swiss-Prot Function:
ALDHs play a major role in the detoxification of alcohol-derived acetaldehyde. They are involved in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation.
UniProtKB/Swiss-Prot CatalyticActivity:
An aldehyde + NAD(+) + H(2)O = a carboxylate + NADH.

Enzyme Numbers (IUBMB) for ALDH1B1 Gene

Phenotypes From GWAS Catalog for ALDH1B1 Gene

Gene Ontology (GO) - Molecular Function for ALDH1B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004029 aldehyde dehydrogenase (NAD) activity TAS --
GO:0016491 oxidoreductase activity IEA --
GO:0016620 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor IEA --
GO:0051287 NAD binding ISS 12693930
genes like me logo Genes that share ontologies with ALDH1B1: view
genes like me logo Genes that share phenotypes with ALDH1B1: view

Animal Models for ALDH1B1 Gene

MGI Knock Outs for ALDH1B1:

Animal Model Products

  • Taconic Biosciences Mouse Models for ALDH1B1

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ALDH1B1 Gene

Localization for ALDH1B1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALDH1B1 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ALDH1B1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 3
peroxisome 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nucleoplasm (3)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ALDH1B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0005759 mitochondrial matrix TAS --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with ALDH1B1: view

Pathways & Interactions for ALDH1B1 Gene

genes like me logo Genes that share pathways with ALDH1B1: view

Pathways by source for ALDH1B1 Gene

UniProtKB/Swiss-Prot P30837-AL1B1_HUMAN

  • Pathway: Alcohol metabolism; ethanol degradation; acetate from ethanol: step 2/2.

Gene Ontology (GO) - Biological Process for ALDH1B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process NAS 1306115
GO:0006068 ethanol catabolic process IEA --
GO:0006069 ethanol oxidation TAS --
GO:0008152 metabolic process IEA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with ALDH1B1: view

No data available for SIGNOR curated interactions for ALDH1B1 Gene

Drugs & Compounds for ALDH1B1 Gene

(13) Drugs for ALDH1B1 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
gamma-Aminobutyric acid Approved, Investigational Pharma 263
Isopropyl alcohol Approved, Investigational Pharma 0
Propyl alcohol Approved, Experimental Pharma 0
Water Approved Pharma 0

(35) Additional Compounds for ALDH1B1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(S)-Methylmalonic acid semialdehyde
  • (S)-Methylmalonate semialdehyde
  • (2S)-2-Methyl-3-oxopropanoate
  • (2S)-2-Methyl-3-oxopropanoic acid
99043-16-0
1-Hexanol
  • 1-Hexyl alcohol
  • 1-Hydroxyhexane
  • Caproic alcohol
  • Hexanol
  • N-Hexyl alcohol
111-27-3
1-Pentanol
  • 1-Pentol
  • 1-Pentyl alcohol
  • Alcool amylique
  • Amyl alcohol, normal
  • Amylalkohol
71-41-0
2,5-Dioxopentanoate
  • 2,5-Dioxopentanoate
  • 2-Oxoglutarate semialdehyde
  • 2-Oxoglutaric acid semialdehyde
2-Propyn-1-al
  • Formylacetylene
  • Propargylaldehyde
  • Propioaldehyde
  • Propiolaldehyde
genes like me logo Genes that share compounds with ALDH1B1: view

Transcripts for ALDH1B1 Gene

mRNA/cDNA for ALDH1B1 Gene

(2) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(149) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ALDH1B1 Gene

Aldehyde dehydrogenase 1 family, member B1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ALDH1B1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b
SP1:
SP2: -

Relevant External Links for ALDH1B1 Gene

GeneLoc Exon Structure for
ALDH1B1
ECgene alternative splicing isoforms for
ALDH1B1

Expression for ALDH1B1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ALDH1B1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ALDH1B1 Gene

This gene is overexpressed in Artery - Tibial (x5.6) and Artery - Aorta (x4.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ALDH1B1 Gene



Protein tissue co-expression partners for ALDH1B1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ALDH1B1 Gene:

ALDH1B1

SOURCE GeneReport for Unigene cluster for ALDH1B1 Gene:

Hs.436219

mRNA Expression by UniProt/SwissProt for ALDH1B1 Gene:

P30837-AL1B1_HUMAN
Tissue specificity: Liver, testis and to a lesser extent in brain.

Evidence on tissue expression from TISSUES for ALDH1B1 Gene

  • Liver(4.7)
  • Eye(4.1)
  • Kidney(2.7)
  • Nervous system(2.4)
genes like me logo Genes that share expression patterns with ALDH1B1: view

No data available for Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ALDH1B1 Gene

Orthologs for ALDH1B1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ALDH1B1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALDH1B1 34 33
  • 99.55 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ALDH1B1 34 33
  • 89.23 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALDH1B1 34
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ALDH1B1 34
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aldh1b1 16 34 33
  • 87.12 (n)
cow
(Bos Taurus)
Mammalia ALDH1B1 34 33
  • 86.91 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aldh1b1 33
  • 86.6 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia aldh1b1 33
  • 69.93 (n)
zebrafish
(Danio rerio)
Actinopterygii aldh2.1 34
  • 70 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Aldh 34
  • 66 (a)
OneToMany
CG3752 35
  • 66 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALD4 36 33
  • 55.78 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F00440g 33
  • 54 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ALDH2B7 33
  • 57.85 (n)
rice
(Oryza sativa)
Liliopsida Os06g0270900 33
  • 59.58 (n)
Os.2447 33
corn
(Zea mays)
Liliopsida Zm.10312 33
Species where no ortholog for ALDH1B1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • lizard (Anolis carolinensis)
  • 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)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ALDH1B1 Gene

ENSEMBL:
Gene Tree for ALDH1B1 (if available)
TreeFam:
Gene Tree for ALDH1B1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ALDH1B1: view image

Paralogs for ALDH1B1 Gene

(12) SIMAP similar genes for ALDH1B1 Gene using alignment to 1 proteins:

  • AL1B1_HUMAN
genes like me logo Genes that share paralogs with ALDH1B1: view

Variants for ALDH1B1 Gene

Sequence variations from dbSNP and Humsavar for ALDH1B1 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs201458895 likely-pathogenic, not provided 38,396,512(+) T/C coding_sequence_variant, missense_variant
rs201408956 likely-benign, not specified 38,396,909(+) C/ coding_sequence_variant, frameshift
rs770551895 likely-benign, not specified 38,397,100(+) G/A coding_sequence_variant, missense_variant
rs796888788 likely-benign, not specified 38,396,324(+) GGG/GG/GGGG coding_sequence_variant, frameshift
rs111325536 uncertain-significance, not specified 38,396,319(+) A/G coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for ALDH1B1 Gene

Variant ID Type Subtype PubMed ID
nsv8445 CNV gain+loss 18304495
nsv614271 CNV loss 21841781
nsv527063 CNV loss 19592680
nsv1125318 OTHER inversion 24896259
nsv1018488 CNV gain 25217958
esv34172 CNV loss 18971310

Variation tolerance for ALDH1B1 Gene

Residual Variation Intolerance Score: 51.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 18.36; 98.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ALDH1B1 Gene

Human Gene Mutation Database (HGMD)
ALDH1B1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALDH1B1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALDH1B1 Gene

Disorders for ALDH1B1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ALDH1B1 Gene - From: HGMD and DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ALDH1B1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ALDH1B1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ALDH1B1 Gene

Publications for ALDH1B1 Gene

  1. Cloning and characterization of a new functional human aldehyde dehydrogenase gene. (PMID: 2061311) Hsu LC … Chang WC (The Journal of biological chemistry 1991) 2 3 4 22 58
  2. Diverse polymorphism within a short coding region of the human aldehyde dehydrogenase-5 (ALDH5) gene. (PMID: 8244338) Sherman D … Yoshida A (Human genetics 1993) 3 4 22 58
  3. Genetic determinants of both ethanol and acetaldehyde metabolism influence alcohol hypersensitivity and drinking behaviour among Scandinavians. (PMID: 20205700) Linneberg A … Husemoen LL (Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology 2010) 3 44 58
  4. The association of alcohol and alcohol metabolizing gene variants with diabetes and coronary heart disease risk factors in a white population. (PMID: 20700531) Husemoen LL … Linneberg A (PloS one 2010) 3 44 58
  5. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C … Hunter DJ (Human genetics 2010) 3 44 58

Products for ALDH1B1 Gene

Sources for ALDH1B1 Gene

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