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

Gene ID: 221, updated on 12-Oct-2019

Summary

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
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

Genomic context

See ALDH3B1 in Genome Data Viewer
Location:
11q13.2
Exon count:
11
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (68008547..68029276)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (67776048..67796743)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 7 subfamily E member 1 pseudogene Neighboring gene unc-93 homolog B1, TLR signaling regulator Neighboring gene Sharpr-MPRA regulatory region 5992 Neighboring gene NADH:ubiquinone oxidoreductase core subunit S8 Neighboring gene microRNA 7113

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ26433, FLJ34710

Gene Ontology Provided by GOA

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

General protein information

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)

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
    4970..25699
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000694.4NP_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
    P43353
    UniProtKB/TrEMBL
    A0A024R5D8
    Related
    ENSP00000473990.2, ENST00000342456.11
    Conserved Domains (1) summary
    cd07132
    Location:6447
    ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins
  2. NM_001030010.3NP_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/Swiss-Prot
    P43353
    UniProtKB/TrEMBL
    A0A024R5K0
    Related
    ENSP00000481604.1, ENST00000617288.4
    Conserved Domains (1) summary
    cd07132
    Location:6410
    ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins
  3. NM_001161473.3NP_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
    P43353
    UniProtKB/TrEMBL
    A0A024R5D8
    Related
    ENSP00000478486.1, ENST00000614849.4
    Conserved Domains (1) summary
    cd07132
    Location:6447
    ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins
  4. NM_001290058.2NP_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/Swiss-Prot
    P43353
    UniProtKB/TrEMBL
    A0A087X2D4
    Related
    ENSP00000484901.1, ENST00000612297.4
    Conserved Domains (1) summary
    cl11961
    Location:6330
    ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily
  5. NM_001290059.2NP_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:1251
    ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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