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

Gene ID: 64577, updated on 11-Sep-2019

Summary

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
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

Genomic context

See ALDH8A1 in Genome Data Viewer
Location:
6q23.3
Exon count:
7
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (134917393..134950101, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (135238528..135271260, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928277 Neighboring gene mediator of cell motility 1 pseudogene 2 Neighboring gene HBS1 like translational GTPase Neighboring gene microRNA 3662 Neighboring gene uncharacterized LOC105378010

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

HIV-1 interactions

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 BioSystems

  • RA biosynthesis pathway, organism-specific biosystem (from REACTOME)
    RA biosynthesis pathway, organism-specific biosystemThe major activated retinoid, all-trans-retinoic acid (atRA) is produced by the dehydrogenation of all-trans-retinol (atROL) by members of the short chain dehydrogenase/reductase (SDR) and aldehyde d...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Retinoic Acid, organism-specific biosystem (from REACTOME)
    Signaling by Retinoic Acid, organism-specific biosystemVitamin A (retinol) can be metabolised into active retinoid metabolites that function either as a chromophore in vision or in regulating gene expression transcriptionally and post-transcriptionally. ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC138650, DKFZp779D2315

Gene Ontology Provided by GOA

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

General protein information

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)

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_001193480.2NP_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:27435
    ALDH_F8_HMSADH; Human aldehyde dehydrogenase family 8 member A1-like
  2. NM_022568.4NP_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
    Q9H2A2
    Related
    ENSP00000265605.2, ENST00000265605.7
    Conserved Domains (1) summary
    cd07093
    Location:27485
    ALDH_F8_HMSADH; Human aldehyde dehydrogenase family 8 member A1-like
  3. NM_170771.3NP_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:27431
    ALDH_F8_HMSADH; Human aldehyde dehydrogenase family 8 member A1-like

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

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