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

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

    Summary

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    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
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Human aldehyde dehydrogenase catalytic activity and structural interactions with coenzyme analogs. Izaguirre G, et al. J Biomol Struct Dyn, 2001 Dec. PMID 11790142
    2. Tissue distribution of human aldehyde dehydrogenase E3 (ALDH9): comparison of enzyme activity with E3 protein and mRNA distribution. Izaguirre G, et al. Comp Biochem Physiol B Biochem Mol Biol, 1997 Sep. PMID 9417993
    3. Human gamma-aminobutyraldehyde dehydrogenase (ALDH9): cDNA sequence, genomic organization, polymorphism, chromosomal localization, and tissue expression. Lin SW, et al. Genomics, 1996 Jun 15. PMID 8786138
    4. Human aldehyde dehydrogenase. cDNA cloning and primary structure of the enzyme that catalyzes dehydrogenation of 4-aminobutyraldehyde. Kurys G, et al. Eur J Biochem, 1993 Dec 1. PMID 8269919
    5. Human aldehyde dehydrogenase: chromosomal assignment of the gene for the isozyme that metabolizes gamma-aminobutyraldehyde. McPherson JD, et al. Hum Genet, 1994 Feb. PMID 8112751

    See all (61) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. structural comparison reveals a position and a fold of the inter-domain linker of ALDH9A1 never observed in any other ALDH so far.
      Title: Kinetic and structural analysis of human ALDH9A1.
    2. TMABA-DH colocalized with myosin light chains in cardiac myocytes.
      Title: Identification of 4-Trimethylaminobutyraldehyde Dehydrogenase (TMABA-DH) as a Candidate Serum Autoantibody Target for Kawasaki Disease.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    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)

    Genotypes

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 4-trimethylammoniobutyraldehyde dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 4-trimethylammoniobutyraldehyde dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables aldehyde dehydrogenase (NAD+) activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables aminobutyraldehyde dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables aminobutyraldehyde dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables aminobutyraldehyde dehydrogenase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables formaldehyde dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables small molecule binding EXP
    Inferred from Experiment
    more info
    		 PubMed 
    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

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    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)

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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_012256.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_000696.4 → NP_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:55 → 512
      ALDH_F9_TMBADH; NAD+-dependent 4-trimethylaminobutyraldehyde dehydrogenase, ALDH family 9A1

    2. NM_001365774.2 → NP_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:1 → 418
      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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P49189.3 GenPept UniProtKB/Swiss-Prot:P49189

    Gene LinkOut

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

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