U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

ALDH3B1 aldehyde dehydrogenase 3 family member B1 [ Homo sapiens (human) ]

Gene ID: 221, updated on 11-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
ALDH3B1provided by HGNC
Official Full Name
aldehyde dehydrogenase 3 family member B1provided by HGNC
Primary source
HGNC:HGNC:410
See related
Ensembl:ENSG00000006534 MIM:600466; AllianceGenome:HGNC:410
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ALDH4; ALDH7
Summary
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]
Expression
Broad expression in lung (RPKM 26.2), bone marrow (RPKM 14.3) and 17 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
11q13.2
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (68008547..68029276)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (68012199..68032929)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (67776017..67796743)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902697 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67758703-67759308 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3652 Neighboring gene unc-93 homolog B1, TLR signaling regulator Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67764416-67765090 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67765091-67765764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5126 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5127 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5128 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3653 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67771524-67772067 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67772068-67772610 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67777316-67778144 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67781777-67782671 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67794214-67795079 Neighboring gene Sharpr-MPRA regulatory region 3798 Neighboring gene Sharpr-MPRA regulatory region 5992 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5129 Neighboring gene NADH:ubiquinone oxidoreductase core subunit S8 Neighboring gene microRNA 7113 Neighboring gene microRNA 4691

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. [ALDH3B1 expression is correlated with histopathology and long-term prognosis of gastric cancer]. Li Q, et al. Nan Fang Yi Ke Da Xue Xue Bao, 2022 May 20. PMID 35673905, Free PMC Article
  2. ALDH3B1 Is an Independent Prognostic Biomarker of Lung Adenocarcinoma. Sun H, et al. Technol Cancer Res Treat, 2020 Jan-Dec. PMID 32744175, Free PMC Article
  3. Substrate specificity, plasma membrane localization, and lipid modification of the aldehyde dehydrogenase ALDH3B1. Kitamura T, et al. Biochim Biophys Acta, 2013 Aug. PMID 23721920
  4. Aldehyde dehydrogenase 3B1 (ALDH3B1): immunohistochemical tissue distribution and cellular-specific localization in normal and cancerous human tissues. Marchitti SA, et al. J Histochem Cytochem, 2010 Sep. PMID 20729348, Free PMC Article
  5. Expression and initial characterization of human ALDH3B1. Marchitti SA, et al. Biochem Biophys Res Commun, 2007 May 11. PMID 17382292, Free PMC Article

See all (37) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Potential clinical significance of ALDH3B1 in auxiliary diagnosis of gastric cancer.
    Title: Potential clinical significance of ALDH3B1 in auxiliary diagnosis of gastric cancer.
  2. [ALDH3B1 expression is correlated with histopathology and long-term prognosis of gastric cancer].
    Title: [ALDH3B1 expression is correlated with histopathology and long-term prognosis of gastric cancer].
  3. ALDH3B1 Is an Independent Prognostic Biomarker of Lung Adenocarcinoma.
    Title: ALDH3B1 Is an Independent Prognostic Biomarker of Lung Adenocarcinoma.
  4. the likely physiological function of ALDH3B1 is to oxidize lipid-derived aldehydes generated in the plasma membrane and not to be involved in the sphingolipid metabolism in the endoplasmic reticulum.
    Title: Substrate specificity, plasma membrane localization, and lipid modification of the aldehyde dehydrogenase ALDH3B1.
  5. protects cells from the damaging effects of oxidative stress
    Title: Molecular characterization, expression analysis, and role of ALDH3B1 in the cellular protection against oxidative stress.
  6. The specificity of ALDH3B1 distribution may prove to be directly related to the functional role of this enzyme in human tissues.
    Title: Aldehyde dehydrogenase 3B1 (ALDH3B1): immunohistochemical tissue distribution and cellular-specific localization in normal and cancerous human tissues.
  7. These findings provided convincing evidence that epistasis between the catechol-O-methyltransferase and aldehyde dehydrogenase 3B1 genes plays an important role in the pathogenesis of schizophrenia
    Title: Evidence of epistasis between the catechol-O-methyltransferase and aldehyde dehydrogenase 3B1 genes in paranoid schizophrenia.
  8. Observational study of gene-disease association. (HuGE Navigator)
    Title: New genetic associations detected in a host response study to hepatitis B vaccine.
  9. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
    Title: Evidence of epistasis between the catechol-O-methyltransferase and aldehyde dehydrogenase 3B1 genes in paranoid schizophrenia.
  10. This study shows for the first time the functionality, expression and protective role of ALDH3B1 and indicates a potential physiological role of ALDH3B1 against oxidative stress.
    Title: Expression and initial characterization of human ALDH3B1.
Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • FLJ26433, FLJ34710

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 3-chloroallyl aldehyde dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables aldehyde dehydrogenase (NAD+) activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables aldehyde dehydrogenase [NAD(P)+] activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables aldehyde dehydrogenase [NAD(P)+] activity TAS
Traceable Author Statement
more info
  
enables benzaldehyde dehydrogenase (NAD+) activity IEA
Inferred from Electronic Annotation
more info
  
enables benzaldehyde dehydrogenase (NADP+) activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in alcohol metabolic process TAS
Traceable Author Statement
more info
 PubMed 
acts_upstream_of_or_within aldehyde catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cellular aldehyde metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within cellular response to oxidative stress IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in ethanol catabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in lipid metabolic process TAS
Traceable Author Statement
more info
 PubMed 
acts_upstream_of_or_within response to oxidative stress IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in sphingolipid catabolic process TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  
located_in extracellular exosome HDA PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in secretory granule membrane TAS
Traceable Author Statement
more info
  
located_in specific granule membrane TAS
Traceable Author Statement
more info
  
located_in vesicle HDA PubMed 

General protein information

Go to the top of the page Help
Preferred Names
aldehyde dehydrogenase family 3 member B1
Names
aldehyde dehydrogenase 3B1
aldehyde dehydrogenase 7
NP_000685.1
NP_001025181.1
NP_001154945.1
NP_001276987.1
NP_001276988.1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012282.1 RefSeqGene

    Range
    6750..25699
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000694.4 → NP_000685.1  aldehyde dehydrogenase family 3 member B1 isoform a

    See identical proteins and their annotated locations for NP_000685.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1 and 3 encode the same isoform.
    Source sequence(s)
    BC013584, DA624671
    Consensus CDS
    CCDS73335.1
    UniProtKB/Swiss-Prot
    A3FMP9, P43353, Q53XL5, Q8N515, Q96CK8
    UniProtKB/TrEMBL
    Q59F10
    Related
    ENSP00000473990.2, ENST00000342456.11
    Conserved Domains (1) summary
    cd07132
    Location:6 → 447
    ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins

  2. NM_001030010.3 → NP_001025181.1  aldehyde dehydrogenase family 3 member B1 isoform b

    See identical proteins and their annotated locations for NP_001025181.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The encoded isoform (b) is shorter, compared to isoform a.
    Source sequence(s)
    BC013584, BC033099, DA624671
    Consensus CDS
    CCDS73336.1
    UniProtKB/TrEMBL
    Q59F10
    Related
    ENSP00000481604.1, ENST00000617288.4
    Conserved Domains (1) summary
    cd07132
    Location:6 → 410
    ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins

  3. NM_001161473.3 → NP_001154945.1  aldehyde dehydrogenase family 3 member B1 isoform a

    See identical proteins and their annotated locations for NP_001154945.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1 and 3 encode the same isoform (a).
    Source sequence(s)
    BC013584, DA630186, EF411198
    Consensus CDS
    CCDS73335.1
    UniProtKB/Swiss-Prot
    A3FMP9, P43353, Q53XL5, Q8N515, Q96CK8
    UniProtKB/TrEMBL
    Q59F10
    Related
    ENSP00000478486.1, ENST00000614849.4
    Conserved Domains (1) summary
    cd07132
    Location:6 → 447
    ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins

  4. NM_001290058.2 → NP_001276987.1  aldehyde dehydrogenase family 3 member B1 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an exon and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (c) is shorter, compared to isoform a.
    Source sequence(s)
    AK291505, BC013584, CD014084
    Consensus CDS
    CCDS76443.1
    UniProtKB/TrEMBL
    A0A087X2D4
    Related
    ENSP00000484901.1, ENST00000612297.4
    Conserved Domains (1) summary
    cl11961
    Location:6 → 330
    ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily

  5. NM_001290059.2 → NP_001276988.1  aldehyde dehydrogenase family 3 member B1 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in its 5' UTR and uses a downstream start codon, compared to variant 1. The encoded isoform (d) has a shorter N-terminus, compared to isoform a.
    Source sequence(s)
    AK291505, BC013584, CD014083
    UniProtKB/Swiss-Prot
    P43353
    Conserved Domains (1) summary
    cl11961
    Location:1 → 251
    ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    68008547..68029276
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    68012199..68032929
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P43353.1 GenPept UniProtKB/Swiss-Prot:P43353

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous