ALDH1A1 aldehyde dehydrogenase 1 family, member A1 [Homo sapiens] - Gene

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Summary

Official Symbol: ALDH1A1provided by HGNC
Official Full Name: aldehyde dehydrogenase 1 family, member A1provided by HGNC
Primary source: HGNC:402
Locus tag: RP11-151D14.2
See related: Ensembl:ENSG00000165092; HPRD:00001; MIM:100640; Vega:OTTHUMG00000020019
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; PUMB1; ALDH11; RALDH1; ALDH-E1; MGC2318
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]

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Genomic context

Location :: 9q21.13

Sequence :: Chromosome: 9; NC_000009.11 (75515578..75568233, complement)

See ALDH1A1 in Epigenomics, MapViewer

Chromosome 9 - NC_000009.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

ALDH1 expression appears only in the undifferentiated cells of glioblastoma.
Title: [Adherent culture of CD133+ cells in glioblastomas and expression of ADLH1].
ALDH1 expression pattern is an independent prognostic marker for survival of T3 N0 M0 G2 colorectal cancer patients.
Title: The expression pattern of aldehyde dehydrogenase 1 (ALDH1) is an independent prognostic marker for low survival in colorectal tumors.
Data show that aryl hydrocarbon receptor (AhR) activation suppressed mammosphere formation of MCF-7 cells and decreased the proportion of cells with high aldehyde dehydrogenase 1 (ALDH-1) activity.
Title: Activation of the aryl hydrocarbon receptor represses mammosphere formation in MCF-7 cells.
ALDH1 expression in carcinoma cells is an independent prognostic factor in triple negative breast cancer patients.
Title: Aldehyde dehydrogenase 1 expression predicts poor prognosis in triple-negative breast cancer.
Our study suggested that Msi-1 and/or ALDH1 expression might be closely related to the carcinogenesis, progression, clinical biological behaviors, and prognosis of gallbladder adenocarcinoma.
Title: Identification of musashi-1 and ALDH1 as carcinogenesis, progression, and poor-prognosis related biomarkers for gallbladder adenocarcinoma.
demonstrated that ER-alpha36 positively regulates HER2 expression and the population of ALDH1 positive breast cancer cells, and suggested that non-genomic estrogen signaling mediated by ER-alpha36 is involved in maintenance of breast cancer stem cells
Title: A positive cross-regulation of HER2 and ER-α36 controls ALDH1 positive breast cancer cells.
the interaction between ALDH status and the ability to establish a stem cell hierarchy in PC3 prostate cancer cells was examined.
Title: Aldehyde dehydrogenase activity selects for the holoclone phenotype in prostate cancer cells.
high expression of ALDH1A1 correlated with proliferation of pancreatic tumour cells; low expression of ALDH1A1 identified as an adverse prognostic marker for survival in pancreatic cancer
Title: Low expression of aldehyde dehydrogenase 1A1 (ALDH1A1) is a prognostic marker for poor survival in pancreatic cancer.
Data show that cervical carcinoma contains a small subpopulation of cells that express ALDH1 and may demonstrate a cancer stem cell-like phenotype.
Title: The expression of ALDH1 in cervical carcinoma.
Cell populations enriched for high ALDH activity alone are sufficient for efficient tumor-initiation with enhanced tumorigenic potential relative to CD133(+) and ALDH(low) cell populations in some direct xenograft tumors.
Title: ALDH activity selectively defines an enhanced tumor-initiating cell population relative to CD133 expression in human pancreatic adenocarcinoma.

Submit: New GeneRIF Correction See all (65)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
P00352	P00352	ALDH1A1	HPRD	PubMed
BioGRID:106718	BioGRID:106718	ALDH1A1	BioGRID	PubMed	Two-hybrid
BioGRID:106718	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
Ras GTPase activator activity	TAS Traceable Author Statement more info	PubMed
aldehyde dehydrogenase (NAD) activity	EXP Inferred from Experiment more info
androgen binding	TAS Traceable Author Statement more info	PubMed
oxidoreductase activity	IEA Inferred from Electronic Annotation more info
retinal dehydrogenase activity	IEA Inferred from Electronic Annotation 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
positive regulation of Ras GTPase activity	TAS Traceable Author Statement more info	PubMed
small molecule metabolic process	TAS Traceable Author Statement more info
xenobiotic metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
cytoplasm	IEA Inferred from Electronic Annotation more info
cytosol	TAS Traceable Author Statement more info

General protein information

Preferred Names: retinal dehydrogenase 1

Names: retinal dehydrogenase 1; ALHDII; RALDH 1; ALDH class 1; acetaldehyde dehydrogenase 1; retinaldehyde dehydrogenase 1; aldehyde dehydrogenase 1, soluble; aldehyde dehydrogenase, liver cytosolic

NP_000680.2

EC 1.2.1.36

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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

NG_012249.1 RefSeqGene

Range

4737..57392

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000689.4 → NP_000680.2 retinal dehydrogenase 1

Status: REVIEWED

Source sequence(s)

AI074764, BC001505, DC398835

Consensus CDS

CCDS6644.1

UniProtKB/Swiss-Prot

P00352

Related

ENSP00000297785, OTTHUMP00000021482, ENST00000297785, OTTHUMT00000052679

Conserved Domains (2) summary

cd07141
Location:15 – 495
Blast Score: 2628

ALDH_F1AB_F2_RALDH1; NAD+-dependent retinal dehydrogenase 1, ALDH families 1A, 1B, and 2-like

pfam00171
Location:29 – 492
Blast Score: 1793

Aldedh; Aldehyde dehydrogenase family

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000009.11 Reference GRCh37.p5 Primary Assembly

Range

75515578..75568233, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000141.1 Alternate HuRef

Range

45338144..45390773, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL591031.3	CAI12257.1
		CAI12259.1
		CAI12260.1
		CAI12261.1
genomic	AY338497.1	AAP88039.1
genomic	CH471089.1	EAW62543.1
		EAW62544.1
genomic	HC025826.1	CBH19844.1
genomic	M31994.1	AAA51692.1
genomic	S61235.1	AAD13925.1
mRNA	AB209821.1	BAD93058.1
mRNA	AF003341.1	AAC51652.1
mRNA	AI074764.1	None
mRNA	AK000118.1	None
mRNA	AK026641.1	None
mRNA	AK293176.1	BAG56719.1
mRNA	AK302168.1	BAG63535.1
mRNA	AY390731.1	AAR92229.1
mRNA	BC001505.2	AAH01505.1
mRNA	BG773210.1	None
mRNA	BT006921.1	AAP35567.1
mRNA	DC398835.1	None
mRNA	K03000.1	AAA51695.1
mRNA	M26761.1	AAA35518.1
other-genetic	DQ890669.2	ABM81595.1
other-genetic	DQ893850.2	ABM84776.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P00352.2	GenPept	UniProtKB/Swiss-Prot:P00352
Q59EJ0	GenPept	UniProtKB/TrEMBL:Q59EJ0
Q5SYQ7	GenPept	UniProtKB/TrEMBL:Q5SYQ7
Q5SYQ8	GenPept	UniProtKB/TrEMBL:Q5SYQ8
Q5SYQ9	GenPept	UniProtKB/TrEMBL:Q5SYQ9