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

    Gene ID: 221, updated on 14-Nov-2024

    Summary

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    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
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    Genomic context

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    See ALDH3B1 in Genome Data Viewer
    Location:
    11q13.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (68008547..68029276)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (68012199..68032929)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    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

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

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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 long-chain fatty aldehyde dehydrogenase (NAD+) activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables medium-chain fatty aldehyde dehydrogenase (NAD+) 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 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

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    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)

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    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_2024_08

    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.

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