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

Gene ID: 220, updated on 1-Mar-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (100879831..100916626)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (98634889..98671163)
105.20220307 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_2023_10

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.