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ALDH1A1 aldehyde dehydrogenase 1 family member A1 [ Homo sapiens (human) ]

Gene ID: 216, updated on 13-Feb-2019

Summary

Official Symbol
ALDH1A1provided by HGNC
Official Full Name
aldehyde dehydrogenase 1 family member A1provided by HGNC
Primary source
HGNC:HGNC:402
See related
Ensembl:ENSG00000165092 MIM:100640
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
ALDC; ALDH1; HEL-9; HEL12; PUMB1; ALDH11; RALDH1; ALDH-E1; HEL-S-53e
Summary
The protein encoded by this gene belongs to the aldehyde dehydrogenase family. Aldehyde dehydrogenase is the next enzyme after alcohol dehydrogenase in the major pathway of alcohol metabolism. There are two major aldehyde dehydrogenase isozymes in the liver, cytosolic and mitochondrial, which are encoded by distinct genes, and can be distinguished by their electrophoretic mobility, kinetic properties, and subcellular localization. This gene encodes the cytosolic isozyme. Studies in mice show that through its role in retinol metabolism, this gene may also be involved in the regulation of the metabolic responses to high-fat diet. [provided by RefSeq, Mar 2011]
Expression
Broad expression in liver (RPKM 321.0), duodenum (RPKM 249.1) and 18 other tissues See more
Orthologs

Genomic context

See ALDH1A1 in Genome Data Viewer
Location:
9q21.13
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (72900662..72953317, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (75515578..75653633, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene transmembrane channel like 1 Neighboring gene ribosomal protein S27a pseudogene 15 Neighboring gene long intergenic non-protein coding RNA 1474 Neighboring gene cytochrome P450 family 1 subfamily D member 1, pseudogene Neighboring gene uncharacterized LOC105376081

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 FunctionsWhat's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope transmembrane glycoprotein gp41 env A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 downregulates the expression of aldehyde dehydrogenase 1 family, member A1 (ALDH1A1) in peptide-treated PBMCs PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC2318

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity TAS
Traceable Author Statement
more info
PubMed 
NAD binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
aldehyde dehydrogenase (NAD) activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
aldehyde dehydrogenase (NAD) activity IDA
Inferred from Direct Assay
more info
PubMed 
androgen binding TAS
Traceable Author Statement
more info
PubMed 
benzaldehyde dehydrogenase (NAD+) activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
retinal dehydrogenase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
cellular aldehyde metabolic process TAS
Traceable Author Statement
more info
PubMed 
ethanol oxidation TAS
Traceable Author Statement
more info
 
fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate TAS
Traceable Author Statement
more info
 
negative regulation of cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
oxidation-reduction process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
retinoid metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
retinol metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 

General protein information

Preferred Names
retinal dehydrogenase 1
Names
ALDH class 1
ALHDII
RALDH 1
acetaldehyde dehydrogenase 1
aldehyde dehydrogenase 1, soluble
aldehyde dehydrogenase, liver cytosolic
epididymis luminal protein 12
epididymis luminal protein 9
epididymis secretory sperm binding protein Li 53e
retinaldehyde dehydrogenase 1
NP_000680.2

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_012249.1 RefSeqGene

    Range
    4737..57392
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000689.5NP_000680.2  retinal dehydrogenase 1

    See identical proteins and their annotated locations for NP_000680.2

    Status: REVIEWED

    Source sequence(s)
    AI074764, BC001505, DC398835
    Consensus CDS
    CCDS6644.1
    UniProtKB/Swiss-Prot
    P00352
    UniProtKB/TrEMBL
    V9HW83
    Related
    ENSP00000297785.3, ENST00000297785.7
    Conserved Domains (1) summary
    cd07141
    Location:15495
    ALDH_F1AB_F2_RALDH1; NAD+-dependent retinal dehydrogenase 1, ALDH families 1A, 1B, and 2-like

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

    Range
    72900662..72953317 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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