ALDH1B1 aldehyde dehydrogenase 1 family, member B1 [Homo sapiens] - Gene

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Summary

Official Symbol: ALDH1B1provided by HGNC
Official Full Name: aldehyde dehydrogenase 1 family, member B1provided by HGNC
Primary source: HGNC:407
See related: Ensembl:ENSG00000137124; HPRD:00005; MIM:100670; Vega:OTTHUMG00000019938
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; MGC2230
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]

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Genomic context

Location :: 9p11.1

Sequence :: Chromosome: 9; NC_000009.11 (38392702..38398658)

See ALDH1B1 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?

ALDH1B1 is more profoundly expressed in the adenocarcinomas examined in this study relative to ALDH1A1 and that ALDH1B1 is dramatically upregulated in human colonic adenocarcinoma, making it a potential biomarker for human colon cancer.
Title: Aldehyde dehydrogenase 1B1 (ALDH1B1) is a potential biomarker for human colon cancer.
An ALDHX model based on the crystal structure of human ALDH2, reveals similarities with the previously described ALDH structures. Analyses indicate a close structural and functional relationship between the two isoenzymes of human origin
Title: Structural modeling studies of aldehyde dehydrogenase X: insights into key interactions in the tetrameric assembly of the isoenzyme.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: The association of alcohol and alcohol metabolizing gene variants with diabetes and coronary heart disease risk factors in a white population.
a common SNP encoding ALDH1b1 (rs2228093) was found to be significantly associated with alcohol-induced hypersensitivity.
Title: Genetic determinants of both ethanol and acetaldehyde metabolism influence alcohol hypersensitivity and drinking behaviour among Scandinavians.
ALDH1b1 ala69val was associated with diastolic blood pressure in a Caucasian population sample
Title: The association of ADH and ALDH gene variants with alcohol drinking habits and cardiovascular disease risk factors.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Retinoic-acid-induced RAR-CAK signaling events appear to proceed intrinsically during granulocytic development of normal primitive hematopoietic cells. ALDH-governed RA availability may mediate this process by initiating RAR-CAK signaling.
Title: Intrinsic retinoic acid receptor alpha-cyclin-dependent kinase-activating kinase signaling involves coordination of the restricted proliferation and granulocytic differentiation of human hematopoietic stem cells.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
BioGRID:106721	BioGRID:110694	MYC		BioGRID	PubMed	Affinity Capture-MS
BioGRID:106721	BioGRID:113164	UBC		BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
aldehyde dehydrogenase (NAD) activity	IEA Inferred from Electronic Annotation more info
oxidoreductase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
carbohydrate metabolic process	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info	PubMed
mitochondrial matrix	IEA Inferred from Electronic Annotation more info
mitochondrion	IDA Inferred from Direct Assay more info	PubMed
NOT nucleolus	IDA Inferred from Direct Assay more info	PubMed
nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: aldehyde dehydrogenase X, mitochondrial

Names: aldehyde dehydrogenase X, mitochondrial; ALDH class 2; aldehyde dehydrogenase 5; acetaldehyde dehydrogenase 5

NP_000683.3

EC 1.2.1.3

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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_012253.1 RefSeqGene

Range

4960..10961

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000692.4 → NP_000683.3 aldehyde dehydrogenase X, mitochondrial precursor

Status: REVIEWED

Source sequence(s)

AI803741, AK313344, AL135785, DA599259, DB256700

Consensus CDS

CCDS6615.1

UniProtKB/Swiss-Prot

P30837

Related

ENSP00000366927, OTTHUMP00000021399, ENST00000377698, OTTHUMT00000052492

Conserved Domains (2) summary

cd07141
Location:31 – 511
Blast Score: 2449

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

PLN02466
Location:6 – 516
Blast Score: 1711

PLN02466; aldehyde dehydrogenase family 2 member

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

38392702..38398658

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000141.1 Alternate HuRef

Range

38345072..38351027

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL135785.10	CAD13246.1
genomic	CH471071.2	EAW58252.1
genomic	M63967.1	AAA96830.1
mRNA	AI803741.1	None
mRNA	AK225950.1	None
mRNA	AK297020.1	BAG59552.1
mRNA	AK313344.1	BAG36147.1
mRNA	BC001619.1	AAH01619.1
mRNA	BE889810.1	None
mRNA	BT007418.1	AAP36086.1
mRNA	DA599259.1	None
mRNA	DB256700.1	None
other-genetic	DQ890749.2	ABM81675.1
other-genetic	EU176489.1	ABW03290.1