ALDH1B1 aldehyde dehydrogenase 1 family member B1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ALDH1B1provided by HGNC
Official Full Name: aldehyde dehydrogenase 1 family member B1provided by HGNC
Primary source: HGNC:HGNC:407
See related: Ensembl:ENSG00000137124 MIM:100670; AllianceGenome:HGNC:407
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: ALDH5; ALDHX
Summary: This protein belongs to the aldehyde dehydrogenases family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. This gene does not contain introns in the coding sequence. The variation of this locus may affect the development of alcohol-related problems. [provided by RefSeq, Jul 2008]
Expression: Broad expression in liver (RPKM 58.4), kidney (RPKM 38.9) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9p13.1

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (38392702..38398661)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (38416866..38422841)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (38392699..38398658)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Multi-omics profiling reveals cellular pathways and functions regulated by ALDH1B1 in colon cancer cells.
Title: Multi-omics profiling reveals cellular pathways and functions regulated by ALDH1B1 in colon cancer cells.
Targeting colorectal cancer with small-molecule inhibitors of ALDH1B1.
Title: Targeting colorectal cancer with small-molecule inhibitors of ALDH1B1.
Aldehyde Dehydrogenase 1B1 Is Implicated in DNA Damage Response in Human Colorectal Adenocarcinoma.
Title: Aldehyde Dehydrogenase 1B1 Is Implicated in DNA Damage Response in Human Colorectal Adenocarcinoma.
AMBRA1 Negatively Regulates the Function of ALDH1B1, a Cancer Stem Cell Marker, by Controlling Its Ubiquitination.
Title: AMBRA1 Negatively Regulates the Function of ALDH1B1, a Cancer Stem Cell Marker, by Controlling Its Ubiquitination.
Aldehyde dehydrogenase 1B1 is a potential marker of colorectal tumors.
Title: Aldehyde dehydrogenase 1B1 is a potential marker of colorectal tumors.
Role of aldehyde dehydrogenases, alcohol dehydrogenase 1B genotype, alcohol consumption, and their combination in breast cancer in East-Asian women.
Title: Role of aldehyde dehydrogenases, alcohol dehydrogenase 1B genotype, alcohol consumption, and their combination in breast cancer in East-Asian women.
We identified AMI-5, a protein methyltransferase inhibitor, as an Aldh1b1 inducer and showed that it can maintain Aldh1b1 expression in embryonic pancreas explants. This led to a selective reduction in endocrine specification. This effect was due to a downregulation of Ngn3, and it was mediated through Aldh1b1 since the effect was abolished in Aldh1b1 null pancreata.
Title: Protein Methyltransferase Inhibition Decreases Endocrine Specification Through the Upregulation of Aldh1b1 Expression.
These results suggest that ALDH1B1 is a novel human colorectal cancer biomarker
Title: Aldehyde dehydrogenase 1B1: a novel immunohistological marker for colorectal cancer.
The aims of this study were: (i) to use bioinformatic techniques to characterize the possible effects of selected variants in ALDH1B1 on protein structure and function; and, (ii) to genotype three missense and one stop-gain, protein-altering, non-synonymous single nucleotide polymorphisms in 1478 alcohol dependent cases and 1254 controls of matched British and Irish ancestry.
Title: Genetic variants in ALDH1B1 and alcohol dependence risk in a British and Irish population: A bioinformatic and genetic study.
ALDH1B1 is expressed at very high levels in human pancreatic cancer, and it contributes to proliferation in these tumor cells.
Title: Aldehyde Dehydrogenase 1B1 as a Modulator of Pancreatic Adenocarcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (26)

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SGC35531 (e-PCR)
- UniSTS:60749

D11S3430 (e-PCR)
- UniSTS:152671

STS-M63967 (e-PCR)
- UniSTS:40323

STS-R93551 (e-PCR)
- UniSTS:18384

GDB:280628 (e-PCR)
- UniSTS:156379

GDB:280630 (e-PCR)
- UniSTS:156381

GDB:280632 (e-PCR)
- UniSTS:156382

ALDH1B1_1553 (e-PCR)
- UniSTS:276988

ALDH1B1_v530 (e-PCR)
- UniSTS:276988

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables NAD binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables aldehyde dehydrogenase (NAD+) activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in carbohydrate metabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in ethanol catabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: aldehyde dehydrogenase X, mitochondrial

Names: ALDH class 2; acetaldehyde dehydrogenase 5; aldehyde dehydrogenase 5; epididymis secretory sperm binding protein

NP_000683.3

EC 1.2.1.3

XP_011516104.2

EC 1.2.1.3

XP_054218303.1

EC 1.2.1.3

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.