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    ALDH9A1 aldehyde dehydrogenase 9 family member A1 [ Homo sapiens (human) ]

    Gene ID: 223, updated on 2-May-2024

    Summary

    Official Symbol
    ALDH9A1provided by HGNC
    Official Full Name
    aldehyde dehydrogenase 9 family member A1provided by HGNC
    Primary source
    HGNC:HGNC:412
    See related
    Ensembl:ENSG00000143149 MIM:602733; AllianceGenome:HGNC:412
    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
    E3; ALDH4; ALDH7; ALDH9; TMABADH; TMABA-DH; TMABALDH
    Summary
    This protein belongs to the aldehyde dehydrogenase family of proteins. It has a high activity for oxidation of gamma-aminobutyraldehyde and other amino aldehydes. The enzyme catalyzes the dehydrogenation of gamma-aminobutyraldehyde to gamma-aminobutyric acid (GABA). This isozyme is a tetramer of identical 54-kD subunits. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in fat (RPKM 90.6), thyroid (RPKM 83.5) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See ALDH9A1 in Genome Data Viewer
    Location:
    1q24.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (165662216..165698562, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (165008653..165044991, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (165631453..165667799, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene tRNA-Lys (anticodon CTT) 13-1 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:165571612-165571772 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:165599392-165599922 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1500 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2017 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2018 Neighboring gene microsomal glutathione S-transferase 3 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:165619651-165620850 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:165626303-165626469 Neighboring gene ribosomal protein S13 pseudogene 1 Neighboring gene ribosomal protein L21 pseudogene 27 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:165667608-165668190 Neighboring gene carbonic anhydrase 14 pseudogene Neighboring gene MPRA-validated peak437 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2021 Neighboring gene transmembrane and coiled-coil domains 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:165737716-165738392

    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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in carnitine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular aldehyde metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein homotetramerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 

    General protein information

    Preferred Names
    4-trimethylaminobutyraldehyde dehydrogenase
    Names
    R-aminobutyraldehyde dehydrogenase
    aldehyde dehydrogenase (NAD+)
    aldehyde dehydrogenase E3 isozyme
    aldehyde dehydrogenase family 9 member A1
    formaldehyde dehydrogenase
    gamma-aminobutyraldehyde dehydrogenase
    NP_000687.3
    NP_001352703.1

    NCBI Reference Sequences (RefSeq)

    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_012256.1 RefSeqGene

      Range
      5102..41448
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000696.4NP_000687.3  4-trimethylaminobutyraldehyde dehydrogenase isoform 1 precursor

      See identical proteins and their annotated locations for NP_000687.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AL451074
      Consensus CDS
      CCDS1250.2
      UniProtKB/TrEMBL
      B4DX14
      Related
      ENSP00000346827.4, ENST00000354775.5
      Conserved Domains (1) summary
      cd07090
      Location:55512
      ALDH_F9_TMBADH; NAD+-dependent 4-trimethylaminobutyraldehyde dehydrogenase, ALDH family 9A1
    2. NM_001365774.2NP_001352703.1  4-trimethylaminobutyraldehyde dehydrogenase isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AL451074
      UniProtKB/TrEMBL
      B4DE91
      Conserved Domains (1) summary
      cd07090
      Location:1418
      ALDH_F9_TMBADH; NAD+-dependent 4-trimethylaminobutyraldehyde dehydrogenase, ALDH family 9A1

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      165662216..165698562 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      165008653..165044991 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)