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Aliases for ALDH1B1 Gene

Aliases for ALDH1B1 Gene

  • Aldehyde Dehydrogenase 1 Family, Member B1 2 3
  • ALDH5 3 4 6
  • Aldehyde Dehydrogenase 5 3 4
  • EC 1.2.1.3 4 63
  • ALDHX 3 4
  • Aldehyde Dehydrogenase Family 1 Member B1 4
  • Aldehyde Dehydrogenase X, Mitochondrial 3
  • 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 succinic semialdehyde dehydrogenase deficiency. Among its related pathways are Arginine and proline metabolism and Metabolism. GO annotations related to this gene include 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

Genomic Location for ALDH1B1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Lys426
  • Modification sites at PhosphoSitePlus

Other Protein References for ALDH1B1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains for ALDH1B1 Gene

Gene Families for ALDH1B1 Gene

HGNC:
  • ALDH :Aldehyde dehydrogenases

Protein Domains for ALDH1B1 Gene

Graphical View of Domain Structure for InterPro Entry

P30837

UniProtKB/Swiss-Prot:

AL1B1_HUMAN :
  • P30837
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 IBA --
GO:0016491 oxidoreductase activity --
genes like me logo Genes that share ontologies with ALDH1B1: view

Phenotypes for ALDH1B1 Gene

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

No data available for Animal Models , Transcription Factor Targeting 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 4
cytosol 2
peroxisome 2

Gene Ontology (GO) - Cellular Components for ALDH1B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0005759 mitochondrial matrix IEA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with ALDH1B1: view

Pathways 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:0008152 metabolic process --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with ALDH1B1: view

Compounds for ALDH1B1 Gene

(41) HMDB Compounds for ALDH1B1 Gene

Compound Synonyms Cas Number PubMed IDs
(S)-Methylmalonic acid semialdehyde
  • (S)-Methylmalonate semialdehyde
99043-16-0
1-Butanol
  • 1-Butanol
71-36-3
1-Hexanol
  • 1-Hexyl alcohol
111-27-3
1-Pentanol
  • 1-Pentol
71-41-0
20-oxo-leukotriene B4
  • 20-carboxyleukotriene B4
Not Available

(1) Drugbank Compounds for ALDH1B1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
NADH
  • beta-DPNH
606-68-8 target
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:

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 (5.6) and Artery - Aorta (4.9).

Integrated Proteomics: protein expression 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 expressions with ALDH1B1: view

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 35
  • 99.55 (n)
  • 99.42 (a)
ALDH1B1 36
  • 99 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia ALDH1B1 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALDH1B1 36
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aldh1b1 35
  • 86.6 (n)
  • 93.98 (a)
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 Aldh 36
  • 66 (a)
OneToMany
CG3752 37
  • 66 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALD4 35
  • 55.78 (n)
  • 51.32 (a)
ALD4 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F00440g 35
  • 54 (n)
  • 50.2 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons ALDH2B7 35
  • 57.85 (n)
  • 57.06 (a)
corn
(Zea mays)
Liliopsida Zm.10312 35
rice
(Oryza sativa)
Liliopsida Os.2447 35
Os06g0270900 35
  • 59.58 (n)
  • 56.46 (a)
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

Selected 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 MAF
rs3043 -- 38,397,358(+) TTGAC(C/G)AATGC utr-variant-3-prime
rs2073477 Benign 38,395,931(+) ACCAC(C/T)GGGGA reference, synonymous-codon
rs2073478 Benign, - 38,396,068(+) GAACC(G/T)CCTGG reference, missense
rs2228093 Benign, - 38,396,005(+) GGAAG(C/T)CTTCC reference, missense
rs2228094 Benign 38,395,943(+) GTCAT(C/T)GGGCA synonymous-codon, reference

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

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

MalaCards: The human disease database. (1) Diseases for ALDH1B1 Gene including...

Search for ALDH1B1 Gene in MalaCards »

(1) University of Copenhagen DISEASES for ALDH1B1 Gene

Relevant External Links for ALDH1B1

Genetic Association Database (GAD)
ALDH1B1
Human Genome Epidemiology (HuGE) Navigator
ALDH1B1
genes like me logo Genes that share disorders with ALDH1B1: view

No data available for UniProtKB/Swiss-Prot 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
  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 23
  3. 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
  4. 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
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for ALDH1B1 Gene

Sources for ALDH1B1 Gene

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