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

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; AllianceGenome:HGNC:402
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: all
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Genomic context

Location:: 9q21.13

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (72900671..72953053, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (85051589..85103957, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (75515587..75567969, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Autism patient-derived SHANK2B[Y29X] mutation affects the development of ALDH1A1 negative dopamine neuron.
Title: Autism patient-derived SHANK2B(Y29X) mutation affects the development of ALDH1A1 negative dopamine neuron.
ALDH1A1 promotes immune escape of tumor cells through ZBTB7B-glycolysis pathway.
Title: ALDH1A1 promotes immune escape of tumor cells through ZBTB7B-glycolysis pathway.
Associations of stem cell markers CD44, CD24 and ALDH1A1 with mammographic breast density in women with benign breast biopsies.
Title: Associations of stem cell markers CD44, CD24 and ALDH1A1 with mammographic breast density in women with benign breast biopsies.
METTL3-mediated ALDH m[6]A methylation regulates the malignant behavior of BMI1[+] HNSCC stem cells.
Title: METTL3-mediated ALDH m(6)A methylation regulates the malignant behavior of BMI1(+) HNSCC stem cells.
Are embryonic stem cell markers and ALDH1A1 relevant in the context of breast cancer estrogen positivity?
Title: Are embryonic stem cell markers and ALDH1A1 relevant in the context of breast cancer estrogen positivity?
ALDH1A1 drives prostate cancer metastases and radioresistance by interplay with AR- and RAR-dependent transcription.
Title: ALDH1A1 drives prostate cancer metastases and radioresistance by interplay with AR- and RAR-dependent transcription.
The Molecular Context of Oxidant Stress Response in Cancer Establishes ALDH1A1 as a Critical Target: What This Means for Acute Myeloid Leukemia.
Title: The Molecular Context of Oxidant Stress Response in Cancer Establishes ALDH1A1 as a Critical Target: What This Means for Acute Myeloid Leukemia.
The Prognostic Value of Cancer Stem Cell Markers (CSCs) Expression-ALDH1A1, CD133, CD44-For Survival and Long-Term Follow-Up of Ovarian Cancer Patients.
Title: The Prognostic Value of Cancer Stem Cell Markers (CSCs) Expression-ALDH1A1, CD133, CD44-For Survival and Long-Term Follow-Up of Ovarian Cancer Patients.
ALDH1-Mediated Autophagy Sensitizes Glioblastoma Cells to Ferroptosis.
Title: ALDH1-Mediated Autophagy Sensitizes Glioblastoma Cells to Ferroptosis.
Chromium (VI)-induced ALDH1A1/EGF axis promotes lung cancer progression.
Title: Chromium (VI)-induced ALDH1A1/EGF axis promotes lung cancer progression.

Submit: New GeneRIF Correction See all GeneRIFs (334)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH12740 (e-PCR)
- UniSTS:23088

ALDH1A1__2601 (e-PCR)
- UniSTS:280435

HUM00D1B06 (e-PCR)
- UniSTS:41862

SHGC-78774 (e-PCR)
- UniSTS:95675

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 3-deoxyglucosone dehydrogenase activity	IDA Inferred from Direct Assay more info	PubMed
enables GTPase activator activity	TAS Traceable Author Statement more info	PubMed
enables NAD binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables aldehyde dehydrogenase (NAD+) activity	IDA Inferred from Direct Assay more info	PubMed
enables aldehyde dehydrogenase (NAD+) activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables aminobutyraldehyde dehydrogenase (NAD+) activity	ISS Inferred from Sequence or Structural Similarity more info
enables androgen binding	TAS Traceable Author Statement more info	PubMed
enables benzaldehyde dehydrogenase (NAD+) activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables retinal dehydrogenase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in cellular aldehyde metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in cellular detoxification of aldehyde	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in fructosamine catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in gamma-aminobutyric acid biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in maintenance of lens transparency	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cold-induced thermogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in retinoid metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in retinol metabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in axon	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in synapse	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: aldehyde dehydrogenase 1A1

Names: 3-deoxyglucosone dehydrogenase; 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; retinal dehydrogenase 1; retinaldehyde dehydrogenase 1

NP_000680.2

EC 1.2.1.19

EC 1.2.1.28

EC 1.2.1.3

EC 1.2.1.36

NCBI Reference Sequences (RefSeq)

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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.