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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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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

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