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

Gene ID: 220, updated on 1-Jun-2020

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
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

Genomic context

See ALDH1A3 in Genome Data Viewer
Location:
15q26.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (100879831..100916626)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (101419897..101456831)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 9420 Neighboring gene uncharacterized LOC105369201 Neighboring gene PHD finger protein 5H pseudogene Neighboring gene uncharacterized LOC101927751 Neighboring gene leucine rich repeat kinase 1 Neighboring gene uncharacterized LOC105371026 Neighboring gene chondroitin sulfate synthase 1

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

Homology

Clone Names

  • FLJ31972, MGC126654, MGC150974

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
aldehyde dehydrogenase family 1 member A3
Names
acetaldehyde dehydrogenase 6
aldehyde dehydrogenase 6
retinaldehyde dehydrogenase 3
NP_000684.2
NP_001280744.1

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_012254.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_000693.4NP_000684.2  aldehyde dehydrogenase family 1 member A3 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
    UniProtKB/TrEMBL
    A0A024RC95
    Related
    ENSP00000332256.5, ENST00000329841.10
    Conserved Domains (2) summary
    cd07141
    Location:26506
    ALDH_F1AB_F2_RALDH1; NAD+-dependent retinal dehydrogenase 1, ALDH families 1A, 1B, and 2-like
    PLN02466
    Location:19512
    PLN02466; aldehyde dehydrogenase family 2 member
  2. NM_001293815.2NP_001280744.1  aldehyde dehydrogenase family 1 member A3 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/Swiss-Prot
    P47895
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    100879831..100916626
    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.
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