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    ALDH1A3 aldehyde dehydrogenase 1 family member A3 [ Homo sapiens (human) ]

    Gene ID: 220, updated on 9-Dec-2024

    Summary

    Official Symbol
    ALDH1A3provided by HGNC
    Official Full Name
    aldehyde dehydrogenase 1 family member A3provided by HGNC
    Primary source
    HGNC:HGNC:409
    See related
    Ensembl:ENSG00000184254 MIM:600463; AllianceGenome:HGNC:409
    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
    ALDH6; MCOP8; RALDH3; ALDH1A6
    Summary
    This gene encodes an aldehyde dehydrogenase enzyme that uses retinal as a substrate. Mutations in this gene have been associated with microphthalmia, isolated 8, and expression changes have also been detected in tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
    Expression
    Broad expression in prostate (RPKM 82.4), urinary bladder (RPKM 32.4) and 14 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ALDH1A3 in Genome Data Viewer
    Location:
    15q26.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (100879831..100916626)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (98634889..98671163)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (101420036..101456831)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 9420 Neighboring gene gastric cancer associated WDR5 and KAT2A binding lncRNA Neighboring gene collagen alpha-1(I) chain-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6879 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:101420568-101421082 Neighboring gene ALDH1A3 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:101458234-101458826 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6881 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:101460013-101460604 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:101464364-101464864 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:101464865-101465365 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:101466469-101466662 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:101469523-101470476 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10177 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10178 Neighboring gene leucine rich repeat kinase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10179 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10180 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6882 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10181 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:101535857-101536844 Neighboring gene Sharpr-MPRA regulatory region 1628 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10182 Neighboring gene Sharpr-MPRA regulatory region 13394 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:101567313-101568512 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:101568957-101569509 Neighboring gene uncharacterized LOC105371026 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:101586279-101586964 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr15:101587260-101587760 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr15:101587761-101588261 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:101588398-101588922 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:101588923-101589446 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:101593635-101594255 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:101602418-101603083 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:101603084-101603748 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:101607739-101608404 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:101609069-101609734 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:101609735-101610398 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:101610353-101610519 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:101616303-101616866 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:101616867-101617428 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:101617993-101618554 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:101618555-101619118 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:101619119-101619680 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:101619681-101620242 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6883 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:101641875-101642662 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:101642663-101643449 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:101652194-101652980 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:101658577-101659078 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6884 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10183 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10184 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10185 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:101671452-101671651 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10186 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10187 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10188 Neighboring gene uncharacterized LOC124903565

    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

    Potential readthrough

    Included gene: GCAWKR

    Clone Names

    • FLJ31972, MGC126654, MGC150974

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NAD+ binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables aldehyde dehydrogenase (NAD+) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables aldehyde dehydrogenase [NAD(P)+] activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables retinal dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables thyroid hormone binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in Harderian gland development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic camera-type eye development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in embryonic eye morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in face development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inner ear morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuromuscular process controlling balance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in nucleus accumbens development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in olfactory pit development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in optic cup morphogenesis involved in camera-type eye development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein homotetramerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in retinal metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in retinoic acid biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in retinoic acid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in retinol metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in righting reflex IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 

    General protein information

    Preferred Names
    retinaldehyde dehydrogenase 3
    Names
    acetaldehyde dehydrogenase 6
    aldehyde dehydrogenase 6
    NP_000684.2
    NP_001280744.1

    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_012254.1 RefSeqGene

      Range
      5028..41823
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000693.4NP_000684.2  retinaldehyde dehydrogenase 3 isoform 1

      See identical proteins and their annotated locations for NP_000684.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC069274, DB480234
      Consensus CDS
      CCDS10389.1
      UniProtKB/Swiss-Prot
      P47895, Q6NT64
      UniProtKB/TrEMBL
      B2R5T2
      Related
      ENSP00000332256.5, ENST00000329841.10
      Conserved Domains (1) summary
      cd07141
      Location:26506
      ALDH_F1AB_F2_RALDH1; NAD+-dependent retinal dehydrogenase 1, ALDH families 1A, 1B, and 2-like
    2. NM_001293815.2NP_001280744.1  retinaldehyde dehydrogenase 3 isoform 2

      See identical proteins and their annotated locations for NP_001280744.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks three alternate in-frame exons, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      BC069274, BX538027, DB480234
      Consensus CDS
      CCDS76794.1
      UniProtKB/TrEMBL
      H0Y2X5, Q7Z3A2
      Related
      ENSP00000343294.6, ENST00000346623.6
      Conserved Domains (2) summary
      PLN02466
      Location:19405
      PLN02466; aldehyde dehydrogenase family 2 member
      cl11961
      Location:26399
      ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      100879831..100916626
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      98634889..98671163
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001037224.1: Suppressed sequence

      Description
      NM_001037224.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.