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Aliases for ALDH1B1 Gene

Aliases for ALDH1B1 Gene

  • Aldehyde Dehydrogenase 1 Family Member B1 2 3 5
  • Aldehyde Dehydrogenase 1 Family, Member B1 2 3
  • Aldehyde Dehydrogenase 5 3 4
  • EC 1.2.1.3 4 63
  • ALDH5 3 4
  • ALDHX 3 4
  • Aldehyde Dehydrogenase Family 1 Member B1 4
  • Acetaldehyde Dehydrogenase 5 3
  • ALDH Class 2 3
  • EC 1.2.1 63

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 cyclothymic disorder and succinic semialdehyde dehydrogenase deficiency. Among its related pathways are Metabolism and Valine, leucine and isoleucine degradation. GO annotations related to this gene include oxidoreductase activity and aldehyde dehydrogenase (NAD) activity. An important paralog of this gene is ALDH1A2.

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

Promoters for ALDH1B1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ALDH1B1 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for ALDH1B1 Gene at MOPED

Post-translational modifications for ALDH1B1 Gene

  • Ubiquitination at Lys 426
  • Modification sites at PhosphoSitePlus

Other Protein References for ALDH1B1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for ALDH1B1 Gene

Gene Families for ALDH1B1 Gene

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 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

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

Animal Models for ALDH1B1 Gene

MGI Knock Outs for ALDH1B1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Gene Ontology (GO) - Molecular Function , 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:0005739 mitochondrion IEA,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:0008152 metabolic process IEA --
GO:0044281 small molecule metabolic process TAS --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
acetic acid Approved Nutra Full agonist, Agonist 89
1-Butanol Experimental Pharma 0
1-Proponol Experimental Pharma 0
beta-Alanine Experimental Pharma Full agonist, Agonist Endogenous glycine agonist, more selective than taurine (Cat. No. 0209) 0
Indoleacetic acid Experimental Pharma 0

(39) 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-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
2-Propyn-1-al
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:

CRISPR Products

Inhibitory RNA 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, MOPED, and MaxQB for ALDH1B1 Gene



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

Protein tissue co-expression partners for ALDH1B1 Gene

- Elite partner

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia ALDH1B1 35
  • 86.91 (n)
  • 86.05 (a)
ALDH1B1 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ALDH1B1 35
  • 89.23 (n)
  • 94.97 (a)
ALDH1B1 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aldh1b1 35
  • 87.12 (n)
  • 94.37 (a)
Aldh1b1 16
Aldh1b1 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ALDH1B1 35
  • 99.55 (n)
  • 99.42 (a)
ALDH1B1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aldh1b1 35
  • 86.6 (n)
  • 93.98 (a)
oppossum
(Monodelphis domestica)
Mammalia ALDH1B1 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALDH1B1 36
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aldh1b1 35
  • 69.93 (n)
  • 79.2 (a)
zebrafish
(Danio rerio)
Actinopterygii aldh2.1 36
  • 70 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG3752 37
  • 66 (a)
Aldh 36
  • 66 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F00440g 35
  • 54 (n)
  • 50.2 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALD4 35
  • 55.78 (n)
  • 51.32 (a)
ALD4 38
thale cress
(Arabidopsis thaliana)
eudicotyledons ALDH2B7 35
  • 57.85 (n)
  • 57.06 (a)
rice
(Oryza sativa)
Liliopsida Os.2447 35
Os06g0270900 35
  • 59.58 (n)
  • 56.46 (a)
corn
(Zea mays)
Liliopsida Zm.10312 35
Species with no ortholog for ALDH1B1:
  • 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
rs2228093 - 38,396,005(+) GGAAG(C/T)CTTCC reference, missense
rs2073478 - 38,396,068(+) GAACC(A/G/T)CCTGG reference, missense
rs4646773 - 38,396,353(+) CGCCA(C/T)AGGCA reference, missense
rs4878199 - 38,396,505(+) AGCAC(A/G)TGGAT reference, missense
rs3043 -- 38,397,358(+) TTGAC(C/G)AATGC utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv8445 CNV Gain+Loss 18304495
nsv893066 CNV Gain 21882294
esv34172 CNV Loss 18971310
nsv527063 CNV Loss 19592680

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

HapMap Linkage Disequilibrium report
ALDH1B1
Human Gene Mutation Database (HGMD)
ALDH1B1

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

Disorders for ALDH1B1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
cyclothymic disorder
  • affective personality disorder
succinic semialdehyde dehydrogenase deficiency
  • 4-hydroxybutyric aciduria
- 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 23 67
  2. Distribution of messenger RNAs for aldehyde dehydrogenase 1, aldehyde dehydrogenase 2, and aldehyde dehydrogenase 5 in human tissues. (PMID: 8689400) Stewart M.J. … Crabb D.W. (J. Investig. Med. 1996) 3 23
  3. The novel aldehyde dehydrogenase gene, ALDH5, encodes an active aldehyde dehydrogenase enzyme. (PMID: 7779080) Stewart M.J. … Crabb D.W. (Biochem. Biophys. Res. Commun. 1995) 3 23
  4. 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 23
  5. Molecular genetics of human aldehyde dehydrogenase. (PMID: 1306115) Yoshida A. (Pharmacogenetics 1992) 3 23

Products for ALDH1B1 Gene

Sources for ALDH1B1 Gene

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