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Aliases for ALDH3B1 Gene

Aliases for ALDH3B1 Gene

  • Aldehyde Dehydrogenase 3 Family Member B1 2 3 5
  • Aldehyde Dehydrogenase 7 2 3 4
  • Aldehyde Dehydrogenase 3B1 2 3
  • ALDH7 3 4
  • Aldehyde Dehydrogenase 3 Family, Member B1 2
  • Aldehyde Dehydrogenase Family 3 Member B1 3
  • EC 1.2.1.5 4
  • ALDH4 3

External Ids for ALDH3B1 Gene

Previous HGNC Symbols for ALDH3B1 Gene

  • ALDH7

Previous GeneCards Identifiers for ALDH3B1 Gene

  • GC11P070300
  • GC11P069474
  • GC11P067553
  • GC11P067534
  • GC11P067776
  • GC11P064111

Summaries for ALDH3B1 Gene

Entrez Gene Summary for ALDH3B1 Gene

  • This gene encodes a member of the aldehyde dehydrogenase protein family. Aldehyde dehydrogenases are a family of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The encoded protein is able to oxidize long-chain fatty aldehydes in vitro, and may play a role in protection from oxidative stress. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

GeneCards Summary for ALDH3B1 Gene

ALDH3B1 (Aldehyde Dehydrogenase 3 Family Member B1) is a Protein Coding gene. Among its related pathways are Drug metabolism - cytochrome P450 and Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and 3-chloroallyl aldehyde dehydrogenase activity. An important paralog of this gene is ALDH3B2.

UniProtKB/Swiss-Prot for ALDH3B1 Gene

  • Oxidizes medium and long chain saturated and unsaturated aldehydes. Metabolizes also benzaldehyde. Low activity towards acetaldehyde and 3,4-dihydroxyphenylacetaldehyde. May not metabolize short chain aldehydes. May use both NADP(+) and NAD(+) as cofactors. May have a protective role against the cytotoxicity induced by lipid peroxidation.

Gene Wiki entry for ALDH3B1 Gene

Additional gene information for ALDH3B1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALDH3B1 Gene

Genomics for ALDH3B1 Gene

GeneHancer (GH) Regulatory Elements for ALDH3B1 Gene

Promoters and enhancers for ALDH3B1 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
GH11J068008 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 674.3 +3.3 3284 7.7 HDGF PKNOX1 CLOCK FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ALDH3B1 GC11M068005 LOC105369361 NDUFS8 PPP6R3 ENSG00000260808 ENSG00000255031 UNC93B1 FAM86C2P
GH11J068026 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 24.7 +21.9 21938 7.6 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 POLR2B LOC105369361 NDUFS8 ALDH3B1 PPP6R3 IGHMBP2 KDM2A LOC105369362 TCIRG1 MIR4691 MIR7113
GH11J068016 Enhancer 1.3 Ensembl ENCODE dbSUPER 27 +8.8 8774 2.3 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF48 SP5 NFYC SMARCB1 ZNF623 ALDH3B1 LOC105369361 ENSG00000255031 GC11M068005
GH11J068002 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 8.7 -4.9 -4877 3.1 HDGF PKNOX1 CLOCK ATF1 FOXA2 ARID4B SIN3A ZNF48 GTF3C2 GLIS2 UNC93B1 KMT5B PPP6R3 ENSG00000260808 KDM2A RAD9A RPS6KB2 NDUFS8 CORO1B ENSG00000255031
GH11J067993 Enhancer 0.6 ENCODE 8.3 -14.5 -14482 0.2 SMARCA5 CTCF ZNF687 ZNF654 L3MBTL2 MAX TRIM22 REST ZNF217 CTBP1 ALDH3B1 UNC93B1 OR7E1P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ALDH3B1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ALDH3B1 gene promoter:
  • Pax-5
  • E47
  • MIF-1
  • Egr-2
  • AREB6
  • AML1a
  • HOXA5
  • POU2F1
  • POU2F1a

Genomic Locations for ALDH3B1 Gene

Genomic Locations for ALDH3B1 Gene
chr11:68,008,547-68,029,282
(GRCh38/hg38)
Size:
20,736 bases
Orientation:
Plus strand
chr11:67,776,048-67,796,744
(GRCh37/hg19)
Size:
20,697 bases
Orientation:
Plus strand

Genomic View for ALDH3B1 Gene

Genes around ALDH3B1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALDH3B1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALDH3B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALDH3B1 Gene

Proteins for ALDH3B1 Gene

  • Protein details for ALDH3B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P43353-AL3B1_HUMAN
    Recommended name:
    Aldehyde dehydrogenase family 3 member B1
    Protein Accession:
    P43353
    Secondary Accessions:
    • A3FMP9
    • Q53XL5
    • Q8N515
    • Q96CK8

    Protein attributes for ALDH3B1 Gene

    Size:
    468 amino acids
    Molecular mass:
    51840 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ALDH3B1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ALDH3B1 Gene

Post-translational modifications for ALDH3B1 Gene

  • Dually lipidated in the C-terminus; prenylation occurs prior to, and is a prerequisite for palmitoylation. It is also required for activity towards long-chain substrates.
  • Ubiquitination at Lys437, posLast=375375, posLast=8989, and Lys41
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ALDH3B1 Gene

Domains & Families for ALDH3B1 Gene

Gene Families for ALDH3B1 Gene

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

Suggested Antigen Peptide Sequences for ALDH3B1 Gene

Graphical View of Domain Structure for InterPro Entry

P43353

UniProtKB/Swiss-Prot:

AL3B1_HUMAN :
  • Belongs to the aldehyde dehydrogenase family.
Family:
  • Belongs to the aldehyde dehydrogenase family.
genes like me logo Genes that share domains with ALDH3B1: view

Function for ALDH3B1 Gene

Molecular function for ALDH3B1 Gene

UniProtKB/Swiss-Prot Function:
Oxidizes medium and long chain saturated and unsaturated aldehydes. Metabolizes also benzaldehyde. Low activity towards acetaldehyde and 3,4-dihydroxyphenylacetaldehyde. May not metabolize short chain aldehydes. May use both NADP(+) and NAD(+) as cofactors. May have a protective role against the cytotoxicity induced by lipid peroxidation.
UniProtKB/Swiss-Prot CatalyticActivity:
An aldehyde + NAD(P)(+) + H(2)O = a carboxylate + NAD(P)H.

Enzyme Numbers (IUBMB) for ALDH3B1 Gene

Gene Ontology (GO) - Molecular Function for ALDH3B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004028 3-chloroallyl aldehyde dehydrogenase activity TAS 7828891
GO:0004029 aldehyde dehydrogenase (NAD) activity IEA --
GO:0004030 aldehyde dehydrogenase [NAD(P)+] activity TAS,IDA --
GO:0005515 protein binding IPI 25416956
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with ALDH3B1: view
genes like me logo Genes that share phenotypes with ALDH3B1: view

Animal Models for ALDH3B1 Gene

MGI Knock Outs for ALDH3B1:
  • Aldh3b1 Aldh3b1<tm1b(EUCOMM)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for ALDH3B1

Clone Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ALDH3B1 Gene

Localization for ALDH3B1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALDH3B1 Gene

Cell membrane; Lipid-anchor. Note=Primarily in the plasma membrane as well as in some punctate structures in the cytoplasm.

Gene Ontology (GO) - Cellular Components for ALDH3B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 20699116
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0030667 secretory granule membrane TAS --
genes like me logo Genes that share ontologies with ALDH3B1: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for ALDH3B1 Gene

Pathways & Interactions for ALDH3B1 Gene

genes like me logo Genes that share pathways with ALDH3B1: view

UniProtKB/Swiss-Prot P43353-AL3B1_HUMAN

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

Gene Ontology (GO) - Biological Process for ALDH3B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006066 alcohol metabolic process TAS 7828891
GO:0006068 ethanol catabolic process IEA --
GO:0006081 cellular aldehyde metabolic process IEA --
GO:0006629 lipid metabolic process TAS 7828891
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with ALDH3B1: view

No data available for SIGNOR curated interactions for ALDH3B1 Gene

Drugs & Compounds for ALDH3B1 Gene

(11) Drugs for ALDH3B1 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Chloral hydrate Approved, Illicit, Investigational, Vet_approved Pharma 17
Phenylacetic acid Approved Pharma 12
Trichloroacetate Approved Pharma 0
Water Approved Pharma 0

(19) Additional Compounds for ALDH3B1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3,4-Dihydroxymandelaldehyde
  • 3,4-Dihydroxymandelic aldehyde
  • 3,4-Dihydroxyphenylglycolaldehyde
  • 3,4-Dihydroxyphenylglycolic aldehyde
  • alpha,3,4-Trihydroxybenzeneacetaldehyde
  • alpha,3,4-Trihydroxyphenylacetaldehyde
13023-73-9
3,4-Dihydroxymandelic acid
  • (3,4-Dihydroxyphenyl)(hydroxy)acetic acid
  • 3,4-Dihydroxymandelate
  • 3,4-Dihydroxyphenylglycolic acid
  • Dihydroxymandelic acid
  • DOMA
775-01-9
3,4-Dihydroxyphenylacetaldehyde
  • 2-(3,4-Dihydroxyphenyl)ethanal
  • DOPAL
  • Protocatechuatealdehyde
  • 3,4-Dihydroxy-benzeneacetaldehyde
  • DHPAA aldehyde
5707-55-1
3-Aminopropionaldehyde
  • beta-Aminopropion aldehyde
  • b-Aminopropion aldehyde
  • β-aminopropion aldehyde
  • 3-Aminopropanal
352-92-1
3-Carbamoyl-2-phenylpropionaldehyde
genes like me logo Genes that share compounds with ALDH3B1: view

Transcripts for ALDH3B1 Gene

Unigene Clusters for ALDH3B1 Gene

Aldehyde dehydrogenase 3 family, member B1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ALDH3B1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b
SP1: - - - -
SP2: -
SP3: - -
SP4:
SP5: - - -
SP6:

Relevant External Links for ALDH3B1 Gene

GeneLoc Exon Structure for
ALDH3B1
ECgene alternative splicing isoforms for
ALDH3B1

Expression for ALDH3B1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ALDH3B1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ALDH3B1 Gene

This gene is overexpressed in Whole Blood (x9.2) and Lung (x4.2).

Protein differential expression in normal tissues from HIPED for ALDH3B1 Gene

This gene is overexpressed in Nasal epithelium (60.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ALDH3B1 Gene



NURSA nuclear receptor signaling pathways regulating expression of ALDH3B1 Gene:

ALDH3B1

SOURCE GeneReport for Unigene cluster for ALDH3B1 Gene:

Hs.523841

mRNA Expression by UniProt/SwissProt for ALDH3B1 Gene:

P43353-AL3B1_HUMAN
Tissue specificity: Highest expression in kidney and lung.
genes like me logo Genes that share expression patterns with ALDH3B1: view

No data available for Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ALDH3B1 Gene

Orthologs for ALDH3B1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ALDH3B1 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia ALDH3B1 34 33
  • 87.54 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ALDH3B1 34 33
  • 87.46 (n)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ALDH3B1 33
  • 86.35 (n)
rat
(Rattus norvegicus)
Mammalia Aldh3b1 33
  • 83.69 (n)
mouse
(Mus musculus)
Mammalia Aldh3b1 16 34 33
  • 83.4 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 46 (a)
OneToMany
chicken
(Gallus gallus)
Aves ALDH3B1 33
  • 71.16 (n)
-- 34
  • 59 (a)
ManyToMany
-- 34
  • 58 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 62 (a)
ManyToMany
-- 34
  • 59 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia aldh3b1 33
  • 64.53 (n)
zebrafish
(Danio rerio)
Actinopterygii aldh3b1 34 33
  • 57.11 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Aldh-III 34 35 33
  • 58.15 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005124 33
  • 56.25 (n)
worm
(Caenorhabditis elegans)
Secernentea alh-5 34
  • 45 (a)
ManyToMany
alh-4 34
  • 43 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HFD1 34 33
  • 42.65 (n)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B12540g 33
  • 42.61 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7577 33
rice
(Oryza sativa)
Liliopsida Os.18249 33
wheat
(Triticum aestivum)
Liliopsida Ta.1546 33
bread mold
(Neurospora crassa)
Ascomycetes NCU04013 33
  • 52.38 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6683 34
  • 42 (a)
ManyToMany
CSA.9635 34
  • 40 (a)
ManyToMany
Species where no ortholog for ALDH3B1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 ALDH3B1 Gene

ENSEMBL:
Gene Tree for ALDH3B1 (if available)
TreeFam:
Gene Tree for ALDH3B1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ALDH3B1: view image

Paralogs for ALDH3B1 Gene

Paralogs for ALDH3B1 Gene

(4) SIMAP similar genes for ALDH3B1 Gene using alignment to 4 proteins:

  • AL3B1_HUMAN
  • S4R374_HUMAN
  • S4R3D9_HUMAN
  • S4R3R5_HUMAN
genes like me logo Genes that share paralogs with ALDH3B1: view

Variants for ALDH3B1 Gene

Sequence variations from dbSNP and Humsavar for ALDH3B1 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000024444 -- 68,026,585(+) C/T intron_variant
rs1000242508 -- 68,028,733(+) G/T 3_prime_UTR_variant
rs1000334507 -- 68,014,878(+) C/A intron_variant
rs1000442220 -- 68,009,469(+) A/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000474865 -- 68,009,745(+) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ALDH3B1 Gene

Variant ID Type Subtype PubMed ID
nsv983037 CNV duplication 23825009
nsv951026 CNV deletion 24416366
nsv8836 CNV gain 18304495
nsv825963 CNV gain 20364138
nsv555278 CNV loss 21841781
nsv555277 CNV loss 21841781
nsv475863 CNV novel sequence insertion 20440878
nsv469964 CNV loss 18288195
nsv469856 CNV gain 16826518
nsv468615 CNV loss 19166990
nsv468606 CNV gain 19166990
nsv428260 CNV gain 18775914
nsv1038960 CNV loss 25217958
esv2759835 CNV gain+loss 17122850
dgv1983n54 CNV loss 21841781
dgv1981n54 CNV gain 21841781
dgv156n27 CNV loss 19166990
dgv1221n100 CNV gain 25217958

Variation tolerance for ALDH3B1 Gene

Gene Damage Index Score: 2.86; 48.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ALDH3B1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALDH3B1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALDH3B1 Gene

Disorders for ALDH3B1 Gene

Additional Disease Information for ALDH3B1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for ALDH3B1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ALDH3B1 Gene

Publications for ALDH3B1 Gene

  1. Cloning of a cDNA encoding human ALDH7, a new member of the aldehyde dehydrogenase family. (PMID: 7828891) Hsu LC … Yoshida A (Gene 1994) 2 3 4 22 58
  2. Evidence of epistasis between the catechol-O-methyltransferase and aldehyde dehydrogenase 3B1 genes in paranoid schizophrenia. (PMID: 19159868) Wang Y … Shen Y (Biological psychiatry 2009) 3 22 44 58
  3. Substrate specificity, plasma membrane localization, and lipid modification of the aldehyde dehydrogenase ALDH3B1. (PMID: 23721920) Kitamura T … Kihara A (Biochimica et biophysica acta 2013) 3 4 58
  4. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PMID: 19343046) Saito A … Kamatani N (Journal of human genetics 2009) 3 44 58
  5. Expression and initial characterization of human ALDH3B1. (PMID: 17382292) Marchitti SA … Vasiliou V (Biochemical and biophysical research communications 2007) 3 4 58

Products for ALDH3B1 Gene

Sources for ALDH3B1 Gene

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