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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
  • EC 1.2.1.3 4 61
  • 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 61

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 Metabolism and Cytochrome P450 - arranged by substrate type. 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

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

Genomics for ALDH1B1 Gene

Regulatory Elements for ALDH1B1 Gene

Enhancers for ALDH1B1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F038379 1.1 FANTOM5 Ensembl ENCODE 26.9 -5.4 -5439 15.1 HDGF ARNT MLX CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 YY1 ALDH1B1 TRMT10B IGFBPL1 SLC25A51 LOC105376040
GH09F038371 0.5 ENCODE 12.1 -21.0 -21006 0.2 CTCF HDGF USF1 WRNIP1 ARID4B RAD21 TEAD3 SMC3 MIXL1 THAP11 ALDH1B1 FRMPD1 LOC105376040 ENSG00000223716
GH09F038425 0.9 VISTA 11.5 +35.0 34975 4.3 IGFBPL1 ALDH1B1 TCEA1P3 LOC105376041 ENSG00000283162
GH09F038338 1 Ensembl ENCODE 11.3 -53.2 -53176 1.7 BCOR SMARCA5 POLR2A SMARCA4 IKZF1 ZMYM3 KDM1A TBX21 ALDH1B1 RNU7-124P GC09P038330 GC09P038333 PIR45801 GC09P038332 GC09P038331 GC09P038329 GC09P038327 GC09P038326
GH09F038433 0.2 ENCODE 11 +40.4 40445 0.1 GATAD2A CTCF ZNF654 L3MBTL2 USF2 MXD4 TRIM22 MAX MNT RAD21 IGFBPL1 ALDH1B1 ENSG00000283162 LOC105376041
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ALDH1B1 on UCSC Golden Path with GeneCards custom track

Promoters for ALDH1B1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001303502 536 2400 HDGF ARNT MLX CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 YY1

Genomic Location for ALDH1B1 Gene

Chromosome:
9
Start:
38,392,664 bp from pter
End:
38,398,665 bp from pter
Size:
6,002 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 Lys 426
  • Modification sites at PhosphoSitePlus

Other Protein References for ALDH1B1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ALDH1B1 Gene

Gene Families 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 CatalyticActivity:
An aldehyde + NAD(+) + H(2)O = a carboxylate + NADH.
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.

Enzyme Numbers (IUBMB) 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 --
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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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
Jensen Localization Image for ALDH1B1 Gene COMPARTMENTS Subcellular localization image for ALDH1B1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 2
peroxisome 2

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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Isopropyl alcohol Approved Pharma 0
Water Approved Pharma 0
acetic acid Approved Nutra Full agonist, Agonist 107
beta-Alanine Experimental Pharma Full agonist, Agonist Endogenous glycine agonist, more selective than taurine (Cat. No. 0209) 0
methylmalonic acid Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(S)-Methylmalonic acid semialdehyde
  • (2S)-2-methyl-3-oxopropanoate
  • (2S)-2-methyl-3-oxopropanoic acid
  • (S)-Methylmalonate semialdehyde
99043-16-0
1-Butanol
  • 1-Butanol
  • 1-Butyl alcohol
  • Butanol
  • Butyl alcohol
  • Butyl hydroxide
71-36-3
1-Hexanol
  • 1-Hexanol
  • 1-Hexyl alcohol
  • 1-Hydroxyhexane
  • Alcohol C-6
  • Alcohol(C6)
111-27-3
1-Pentanol
  • 1-Pentanol
  • 1-Pentol
  • 1-Pentyl alcohol
  • Alcool amylique
  • Alcool amylique (french)
71-41-0
2,5-Dioxopentanoate
genes like me logo Genes that share compounds with ALDH1B1: view

Transcripts for ALDH1B1 Gene

mRNA/cDNA for ALDH1B1 Gene

Unigene Clusters for ALDH1B1 Gene

Aldehyde dehydrogenase 1 family, member B1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 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, PaxDb, 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.
genes like me logo Genes that share expression patterns with ALDH1B1: view

Primer Products

No data available for Protein differential expression in normal tissues 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 35
  • 99.55 (n)
dog
(Canis familiaris)
Mammalia ALDH1B1 34 35
  • 89.23 (n)
oppossum
(Monodelphis domestica)
Mammalia ALDH1B1 35
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALDH1B1 35
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aldh1b1 34 16 35
  • 87.12 (n)
cow
(Bos Taurus)
Mammalia ALDH1B1 34 35
  • 86.91 (n)
rat
(Rattus norvegicus)
Mammalia Aldh1b1 34
  • 86.6 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia aldh1b1 34
  • 69.93 (n)
zebrafish
(Danio rerio)
Actinopterygii aldh2.1 35
  • 70 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG3752 36
  • 66 (a)
Aldh 35
  • 66 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALD4 34 37
  • 55.78 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F00440g 34
  • 54 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ALDH2B7 34
  • 57.85 (n)
rice
(Oryza sativa)
Liliopsida Os06g0270900 34
  • 59.58 (n)
Os.2447 34
corn
(Zea mays)
Liliopsida Zm.10312 34
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)

Paralogs for ALDH1B1 Gene

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

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 Sequence Context AA Info Type
rs142427338 Pathogenic 38,396,880(+) TTGGC(C/T)AGAAG reference, stop-gained
rs201458895 Likely pathogenic 38,396,512(+) GGATG(C/T)TGACA reference, missense
rs201408956 Likely benign 38,396,909(+) TGTGG(-/C)GGAGA reference, frameshift-variant
rs796888788 Likely benign 38,396,326(+) GCAGG(-/G)TTGGA reference, frameshift-variant
rs111325536 Uncertain significance 38,396,319(+) TGGTC(A/G)TGCAG reference, missense

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

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

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)

Relevant External Links 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

(3) MalaCards diseases for ALDH1B1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
succinic semialdehyde dehydrogenase deficiency
  • 4-hydroxybutyric aciduria
gamma-amino butyric acid metabolism disorder
cyclothymic disorder
  • affective personality disorder
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ALDH1B1

Genetic Association Database (GAD)
ALDH1B1
Human Genome Epidemiology (HuGE) Navigator
ALDH1B1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ALDH1B1
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 L.C. … Chang W.-C. (J. Biol. Chem. 1991) 2 3 4 22 64
  2. Diverse polymorphism within a short coding region of the human aldehyde dehydrogenase-5 (ALDH5) gene. (PMID: 8244338) Sherman D. … Yoshida A. (Hum. Genet. 1993) 3 4 22 64
  3. Genetic determinants of both ethanol and acetaldehyde metabolism influence alcohol hypersensitivity and drinking behaviour among Scandinavians. (PMID: 20205700) Linneberg A. … Husemoen L.L. (Clin. Exp. Allergy 2010) 3 46 64
  4. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C. … Hunter D.J. (Hum. Genet. 2010) 3 46 64
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64

Products for ALDH1B1 Gene

Sources for ALDH1B1 Gene

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