ALDH3B1 aldehyde dehydrogenase 3 family member B1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ALDH3B1provided by HGNC
Official Full Name: aldehyde dehydrogenase 3 family member B1provided by HGNC
Primary source: HGNC:HGNC:410
See related: Ensembl:ENSG00000006534 MIM:600466; AllianceGenome:HGNC:410
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: ALDH4; ALDH7
Summary: This gene encodes a member of the aldehyde dehydrogenase protein family. Aldehyde dehydrogenases are a family of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The encoded protein is able to oxidize long-chain fatty aldehydes in vitro, and may play a role in protection from oxidative stress. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
Expression: Broad expression in lung (RPKM 26.2), bone marrow (RPKM 14.3) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (68008547..68029276)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (68012199..68032929)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (67776017..67796743)

Chromosome 11 - NC_000011.10 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Potential clinical significance of ALDH3B1 in auxiliary diagnosis of gastric cancer.
Title: Potential clinical significance of ALDH3B1 in auxiliary diagnosis of gastric cancer.
[ALDH3B1 expression is correlated with histopathology and long-term prognosis of gastric cancer].
Title: [ALDH3B1 expression is correlated with histopathology and long-term prognosis of gastric cancer].
ALDH3B1 Is an Independent Prognostic Biomarker of Lung Adenocarcinoma.
Title: ALDH3B1 Is an Independent Prognostic Biomarker of Lung Adenocarcinoma.
the likely physiological function of ALDH3B1 is to oxidize lipid-derived aldehydes generated in the plasma membrane and not to be involved in the sphingolipid metabolism in the endoplasmic reticulum.
Title: Substrate specificity, plasma membrane localization, and lipid modification of the aldehyde dehydrogenase ALDH3B1.
protects cells from the damaging effects of oxidative stress
Title: Molecular characterization, expression analysis, and role of ALDH3B1 in the cellular protection against oxidative stress.
The specificity of ALDH3B1 distribution may prove to be directly related to the functional role of this enzyme in human tissues.
Title: Aldehyde dehydrogenase 3B1 (ALDH3B1): immunohistochemical tissue distribution and cellular-specific localization in normal and cancerous human tissues.
These findings provided convincing evidence that epistasis between the catechol-O-methyltransferase and aldehyde dehydrogenase 3B1 genes plays an important role in the pathogenesis of schizophrenia
Title: Evidence of epistasis between the catechol-O-methyltransferase and aldehyde dehydrogenase 3B1 genes in paranoid schizophrenia.
Observational study of gene-disease association. (HuGE Navigator)
Title: New genetic associations detected in a host response study to hepatitis B vaccine.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Evidence of epistasis between the catechol-O-methyltransferase and aldehyde dehydrogenase 3B1 genes in paranoid schizophrenia.
This study shows for the first time the functionality, expression and protective role of ALDH3B1 and indicates a potential physiological role of ALDH3B1 against oxidative stress.
Title: Expression and initial characterization of human ALDH3B1.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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

D8S2279 (e-PCR)
- UniSTS:473907

STS-AA026629 (e-PCR)
- UniSTS:43596

RH69713 (e-PCR)
- UniSTS:42320

D11S3114 (e-PCR)
- UniSTS:152207

D11S2423 (e-PCR)
- UniSTS:18658

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 3-chloroallyl aldehyde dehydrogenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables aldehyde dehydrogenase (NAD+) activity	IBA Inferred from Biological aspect of Ancestor more info
enables aldehyde dehydrogenase [NAD(P)+] activity	IDA Inferred from Direct Assay more info	PubMed
enables aldehyde dehydrogenase [NAD(P)+] activity	TAS Traceable Author Statement more info
enables benzaldehyde dehydrogenase (NAD+) activity	IEA Inferred from Electronic Annotation more info
enables benzaldehyde dehydrogenase (NADP+) activity	IEA Inferred from Electronic Annotation more info
enables long-chain fatty aldehyde dehydrogenase (NAD+) activity	IEA Inferred from Electronic Annotation more info
enables medium-chain fatty aldehyde dehydrogenase (NAD+) activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in alcohol metabolic process	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within aldehyde catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in aldehyde metabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cellular response to oxidative stress	IDA Inferred from Direct Assay more info	PubMed
involved_in ethanol catabolic process	IEA Inferred from Electronic Annotation more info
involved_in lipid metabolic process	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within response to oxidative stress	IDA Inferred from Direct Assay more info	PubMed
involved_in sphingolipid catabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in secretory granule membrane	TAS Traceable Author Statement more info
located_in specific granule membrane	TAS Traceable Author Statement more info
located_in vesicle	HDA more info	PubMed

General protein information

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Preferred Names: aldehyde dehydrogenase family 3 member B1

Names: aldehyde dehydrogenase 3B1; aldehyde dehydrogenase 7; long-chain fatty aldehyde dehydrogenase; medium-chain fatty aldehyde dehydrogenase

NP_000685.1

EC 1.2.1.28

EC 1.2.1.48

EC 1.2.1.5

EC 1.2.1.7

NP_001025181.1

EC 1.2.1.28

EC 1.2.1.48

EC 1.2.1.5

EC 1.2.1.7

NP_001154945.1

EC 1.2.1.28

EC 1.2.1.48

EC 1.2.1.5

EC 1.2.1.7

NP_001276987.1

EC 1.2.1.28

EC 1.2.1.48

EC 1.2.1.5

EC 1.2.1.7

NP_001276988.1

EC 1.2.1.28

EC 1.2.1.48

EC 1.2.1.5

EC 1.2.1.7

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.

Genomic

NG_012282.1 RefSeqGene

Range

6750..25699

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000694.4 → NP_000685.1 aldehyde dehydrogenase family 3 member B1 isoform a

See identical proteins and their annotated locations for NP_000685.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1 and 3 encode the same isoform.

Source sequence(s)

BC013584, DA624671

Consensus CDS

CCDS73335.1

UniProtKB/Swiss-Prot

A3FMP9, P43353, Q53XL5, Q8N515, Q96CK8

UniProtKB/TrEMBL

Q59F10

Related

ENSP00000473990.2, ENST00000342456.11

Conserved Domains (1) summary

cd07132
Location:6 → 447

ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins
NM_001030010.3 → NP_001025181.1 aldehyde dehydrogenase family 3 member B1 isoform b

See identical proteins and their annotated locations for NP_001025181.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The encoded isoform (b) is shorter, compared to isoform a.

Source sequence(s)

BC013584, BC033099, DA624671

Consensus CDS

CCDS73336.1

UniProtKB/TrEMBL

Q59F10

Related

ENSP00000481604.1, ENST00000617288.4

Conserved Domains (1) summary

cd07132
Location:6 → 410

ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins
NM_001161473.3 → NP_001154945.1 aldehyde dehydrogenase family 3 member B1 isoform a

See identical proteins and their annotated locations for NP_001154945.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1 and 3 encode the same isoform (a).

Source sequence(s)

BC013584, DA630186, EF411198

Consensus CDS

CCDS73335.1

UniProtKB/Swiss-Prot

A3FMP9, P43353, Q53XL5, Q8N515, Q96CK8

UniProtKB/TrEMBL

Q59F10

Related

ENSP00000478486.1, ENST00000614849.4

Conserved Domains (1) summary

cd07132
Location:6 → 447

ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins
NM_001290058.2 → NP_001276987.1 aldehyde dehydrogenase family 3 member B1 isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an exon and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (c) is shorter, compared to isoform a.

Source sequence(s)

AK291505, BC013584, CD014084

Consensus CDS

CCDS76443.1

UniProtKB/TrEMBL

A0A087X2D4

Related

ENSP00000484901.1, ENST00000612297.4

Conserved Domains (1) summary

cl11961
Location:6 → 330

ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily
NM_001290059.2 → NP_001276988.1 aldehyde dehydrogenase family 3 member B1 isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in its 5' UTR and uses a downstream start codon, compared to variant 1. The encoded isoform (d) has a shorter N-terminus, compared to isoform a.

Source sequence(s)

AK291505, BC013584, CD014083

UniProtKB/Swiss-Prot

P43353

Conserved Domains (1) summary

cl11961
Location:1 → 251

ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily