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    ALDH8A1 aldehyde dehydrogenase 8 family member A1 [ Homo sapiens (human) ]

    Gene ID: 64577, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ALDH8A1provided by HGNC
    Official Full Name
    aldehyde dehydrogenase 8 family member A1provided by HGNC
    Primary source
    HGNC:HGNC:15471
    See related
    Ensembl:ENSG00000118514 MIM:606467; AllianceGenome:HGNC:15471
    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
    ALDH12; DJ352A20.2
    Summary
    This gene encodes a member of the aldehyde dehydrogenase family of proteins. The encoded protein has been implicated in the synthesis of 9-cis-retinoic acid and in the breakdown of the amino acid tryptophan. This enzyme converts 9-cis-retinal into the retinoid X receptor ligand 9-cis-retinoic acid, and has approximately 40-fold higher activity with 9-cis-retinal than with all-trans-retinal. In addition, this enzyme has been shown to catalyze the conversion of 2-aminomuconic semialdehyde to 2-aminomuconate in the kynurenine pathway of tryptophan catabolism. [provided by RefSeq, Jul 2018]
    Expression
    Biased expression in liver (RPKM 60.7) and kidney (RPKM 37.6) See more
    Orthologs
    mouse all
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    Genomic context

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    See ALDH8A1 in Genome Data Viewer
    Location:
    6q23.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (134917393..134950101, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (136105650..136138351, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (135238531..135271239, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928277 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:135027094-135027688 Neighboring gene NANOG hESC enhancer GRCh37_chr6:135171948-135172481 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25091 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25092 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25093 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25094 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25095 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:135226183-135226682 Neighboring gene MEMO1 pseudogene 2 Neighboring gene MPRA-validated peak6134 silencer Neighboring gene MPRA-validated peak6136 silencer Neighboring gene HBS1 like translational GTPase Neighboring gene microRNA 3662 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25096 Neighboring gene uncharacterized LOC124901405 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25097 Neighboring gene uncharacterized LOC124901406

    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. Reassignment of the human aldehyde dehydrogenase ALDH8A1 (ALDH12) to the kynurenine pathway in tryptophan catabolism. Davis I, et al. J Biol Chem, 2018 Jun 22. PMID 29703752, Free PMC Article
    2. cDNA cloning and expression of a human aldehyde dehydrogenase (ALDH) active with 9-cis-retinal and identification of a rat ortholog, ALDH12. Lin M, et al. J Biol Chem, 2000 Dec 22. PMID 11007799
    3. Genetics of coronary artery calcification among African Americans, a meta-analysis. Wojczynski MK, et al. BMC Med Genet, 2013 Jul 19. PMID 23870195, Free PMC Article
    4. A whole genome screen for HIV restriction factors. Liu L, et al. Retrovirology, 2011 Nov 14. PMID 22082156, Free PMC Article
    5. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. Saito A, et al. J Hum Genet, 2009 Jun. PMID 19343046

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.
    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

    EBI GWAS Catalog

    Description
    Genetics of coronary artery calcification among African Americans, a meta-analysis.
    EBI GWAS Catalog

    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

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of aldehyde dehydrogenase 8 family, member A1 (ALDH8A1) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

    Go to the HIV-1, Human Interaction Database

    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

    • MGC138650, DKFZp779D2315

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables aminomuconate-semialdehyde dehydrogenase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables retinal dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables retinal dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables retinal dehydrogenase activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in 9-cis-retinoic acid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in L-kynurenine catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in retinal metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in retinoic acid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in retinoic acid metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 

    General protein information

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    Preferred Names
    2-aminomuconic semialdehyde dehydrogenase
    Names
    aldehyde dehydrogenase 12
    aldehyde dehydrogenase family protein
    NP_001180409.1
    NP_072090.1
    NP_739577.1

    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_012261.1 RefSeqGene

      Range
      5006..37714
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001193480.2 → NP_001180409.1  2-aminomuconic semialdehyde dehydrogenase isoform 3

      See identical proteins and their annotated locations for NP_001180409.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate, in-frame, coding region segment, compared to variant 1. The resulting protein (isoform 3) is shorter when it is compared to isoform 1.
      Source sequence(s)
      AK298325, BF590409, BX647324, DA635162
      Consensus CDS
      CCDS55057.1
      UniProtKB/Swiss-Prot
      Q9H2A2
      Related
      ENSP00000356821.2, ENST00000367847.2
      Conserved Domains (1) summary
      cd07093
      Location:27 → 435
      ALDH_F8_HMSADH; Human aldehyde dehydrogenase family 8 member A1-like

    2. NM_022568.4 → NP_072090.1  2-aminomuconic semialdehyde dehydrogenase isoform 1

      See identical proteins and their annotated locations for NP_072090.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript, and encodes the longer protein (isoform 1).
      Source sequence(s)
      AF303134, BF590409, BX647324
      Consensus CDS
      CCDS5171.1
      UniProtKB/Swiss-Prot
      B7Z521, O60793, Q24JS9, Q53GT3, Q5TI80, Q9H2A2
      Related
      ENSP00000265605.2, ENST00000265605.7
      Conserved Domains (1) summary
      cd07093
      Location:27 → 485
      ALDH_F8_HMSADH; Human aldehyde dehydrogenase family 8 member A1-like

    3. NM_170771.3 → NP_739577.1  2-aminomuconic semialdehyde dehydrogenase isoform 2

      See identical proteins and their annotated locations for NP_739577.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame segment of the coding region, compared to variant 1. It encodes a shorter protein (isoform 2), that is missing an internal segment compared to isoform 1.
      Source sequence(s)
      AK074266, AK290784, BF590409, BX647324
      Consensus CDS
      CCDS5172.1
      UniProtKB/Swiss-Prot
      Q9H2A2
      Related
      ENSP00000356819.2, ENST00000367845.6
      Conserved Domains (1) summary
      cd07093
      Location:27 → 431
      ALDH_F8_HMSADH; Human aldehyde dehydrogenase family 8 member A1-like

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      134917393..134950101 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      136105650..136138351 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H2A2.1 GenPept UniProtKB/Swiss-Prot:Q9H2A2

    Gene LinkOut

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

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