AKR1A1 aldo-keto reductase family 1 member A1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: AKR1A1provided by HGNC
Official Full Name: aldo-keto reductase family 1 member A1provided by HGNC
Primary source: HGNC:HGNC:380
See related: Ensembl:ENSG00000117448 MIM:103830; AllianceGenome:HGNC:380
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: ALR; ARM; DD3; ALDR1; HEL-S-6
Summary: This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member, also known as aldehyde reductase, is involved in the reduction of biogenic and xenobiotic aldehydes and is present in virtually every tissue. Multiple alternatively spliced transcript variants of this gene exist, all encoding the same protein. [provided by RefSeq, Jan 2011]
Expression: Ubiquitous expression in kidney (RPKM 113.8), duodenum (RPKM 66.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p34.1

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (45550826..45570049)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (45423192..45442415)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (46016498..46035721)

Chromosome 1 - NC_000001.11 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?

Mechanistic study of the Aldo-keto reductase family 1 member A1 in regulating mesenchymal stem cell fate decision toward adipogenesis and osteogenesis.
Title: Mechanistic study of the Aldo-keto reductase family 1 member A1 in regulating mesenchymal stem cell fate decision toward adipogenesis and osteogenesis.
(5-Hydroxy-4-oxo-2-styryl-4H-pyridin-1-yl)-acetic Acid Derivatives as Multifunctional Aldose Reductase Inhibitors.
Title: (5-Hydroxy-4-oxo-2-styryl-4H-pyridin-1-yl)-acetic Acid Derivatives as Multifunctional Aldose Reductase Inhibitors.
Data (including data from studies in knockout and transgenic mice) suggest that AKR1A1 in liver is involved in bioactivation of xenobiotic/carcinogen thioacetamide (TAA); Akr1a-/- knockout mice are resistant to TAA-induced liver injury/hepatotoxicity.
Title: Mice deficient in aldo-keto reductase 1a (Akr1a) are resistant to thioacetamide-induced liver injury.
prostaglandin F synthase activity of human and bovine aldo-keto reductases
Title: Evaluation of the prostaglandin F synthase activity of human and bovine aldo-keto reductases: AKR1A1s complement AKR1B1s as potent PGF synthases.
AKR1A1 could be involved in the metabolism of 4-hydroxynonenal and play a role in the resistance to oxidative stress
Title: [Effect of AKR1A1 knock-down on H2;O2; and 4-hydroxynonenal-induced cytotoxicity in human 1321N1 astrocytoma cells].
AKR1A1 has little effect on the production of gamma-hydroxybutyrate
Title: The role of aldehyde reductase AKR1A1 in the metabolism of γ-hydroxybutyrate in 1321N1 human astrocytoma cells.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Genetic polymorphisms in nitric oxide synthase genes modify the relationship between vegetable and fruit intake and risk of non-Hodgkin lymphoma.
the binding site residues deviating between ALR1 and ALR2 influence ligand affinity in a complex interplay, presumably involving changes of dynamic properties and differences of the solvation/desolvation balance upon ligand binding
Title: Merging the binding sites of aldose and aldehyde reductase for detection of inhibitor selectivity-determining features.
Observational study of gene-disease association. (HuGE Navigator)
Title: A Large-scale genetic association study of esophageal adenocarcinoma risk.
structure of Apo R268A human aldose reductase reveals hinges and latches that control the kinetic mechanism
Title: The structure of Apo R268A human aldose reductase: hinges and latches that control the kinetic mechanism.

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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

D1S3175 (e-PCR), detects polymorphism
- UniSTS:74278

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

sY3084 (e-PCR)
- UniSTS:515126

RH71342 (e-PCR)
- UniSTS:81248

SHGC-74752 (e-PCR)
- UniSTS:35197

SHGC-132757 (e-PCR)
- UniSTS:170877

D11S3114 (e-PCR)
- UniSTS:152207

GDB:190072 (e-PCR)
- UniSTS:155619

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables L-glucuronate reductase activity	EXP Inferred from Experiment more info	PubMed
enables L-glucuronate reductase activity	IDA Inferred from Direct Assay more info	PubMed
enables S-nitrosoglutathione reductase (NADH) activity	IEA Inferred from Electronic Annotation more info
enables S-nitrosoglutathione reductase (NADPH) activity	IEA Inferred from Electronic Annotation more info
enables aldo-keto reductase (NADPH) activity	TAS Traceable Author Statement more info
enables aldose reductase (NADPH) activity	IBA Inferred from Biological aspect of Ancestor more info
NOT enables all-trans-retinol dehydrogenase (NAD+) activity	ISS Inferred from Sequence or Structural Similarity more info
enables allyl-alcohol dehydrogenase activity	IEA Inferred from Electronic Annotation more info
enables glucuronolactone reductase activity	IDA Inferred from Direct Assay more info	PubMed
enables glycerol dehydrogenase (NADP+) activity	IEA Inferred from Electronic Annotation more info
enables methylglyoxal reductase (NADPH) (acetol producing) 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 D-glucuronate catabolic process to D-xylulose 5-phosphate	TAS Traceable Author Statement more info
involved_in L-ascorbic acid biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in aldehyde catabolic process	IEA Inferred from Electronic Annotation more info
involved_in cellular detoxification of aldehyde	ISS Inferred from Sequence or Structural Similarity more info
involved_in daunorubicin metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in doxorubicin metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in glutathione derivative biosynthetic process	TAS Traceable Author Statement more info
involved_in lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular space	HDA more info	PubMed
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: aldo-keto reductase family 1 member A1

Names: HEL-S-165mP; S-nitroso-CoA reductase; alcohol dehydrogenase; aldehyde reductase; dihydrodiol dehydrogenase 3; epididymis secretory protein Li 6; epididymis secretory sperm binding protein Li 165mP; glucuronate reductase; glucuronolactone reductase; scorR

NP_001189342.1

EC 1.1.1.19

EC 1.1.1.2

EC 1.1.1.20

EC 1.1.1.372

EC 1.1.1.54

NP_001189343.1

EC 1.1.1.19

EC 1.1.1.2

EC 1.1.1.20

EC 1.1.1.372

EC 1.1.1.54

NP_006057.1

EC 1.1.1.19

EC 1.1.1.2

EC 1.1.1.20

EC 1.1.1.372

EC 1.1.1.54

NP_697021.1

EC 1.1.1.19

EC 1.1.1.2

EC 1.1.1.20

EC 1.1.1.372

EC 1.1.1.54

XP_011538793.1

EC 1.1.1.19

EC 1.1.1.2

EC 1.1.1.20

EC 1.1.1.372

EC 1.1.1.54

XP_047284746.1

EC 1.1.1.19

EC 1.1.1.2

EC 1.1.1.20

EC 1.1.1.372

EC 1.1.1.54

XP_047284771.1

EC 1.1.1.19

EC 1.1.1.2

EC 1.1.1.20

EC 1.1.1.372

EC 1.1.1.54

XP_054189782.1

EC 1.1.1.19

EC 1.1.1.2

EC 1.1.1.20

EC 1.1.1.372

EC 1.1.1.54

XP_054189783.1

EC 1.1.1.19

EC 1.1.1.2

EC 1.1.1.20

EC 1.1.1.372

EC 1.1.1.54

XP_054189784.1

EC 1.1.1.19

EC 1.1.1.2

EC 1.1.1.20

EC 1.1.1.372

EC 1.1.1.54

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.

mRNA and Protein(s)

NM_001202413.2 → NP_001189342.1 aldo-keto reductase family 1 member A1

See identical proteins and their annotated locations for NP_001189342.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. All variants encode the same protein.

Source sequence(s)

AU142853, BI549149, BT007003, BU631634

Consensus CDS

CCDS523.1

UniProtKB/Swiss-Prot

A8KAL8, D3DQ04, P14550, Q6IAZ4

UniProtKB/TrEMBL

V9HWI0

Related

ENSP00000480713.1, ENST00000621846.4

Conserved Domains (1) summary

COG0656
Location:6 → 303

ARA1; Aldo/keto reductase, related to diketogulonate reductase [Secondary metabolites biosynthesis, transport and catabolism]
NM_001202414.2 → NP_001189343.1 aldo-keto reductase family 1 member A1

See identical proteins and their annotated locations for NP_001189343.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. All variants encode the same protein.

Source sequence(s)

BI549149, BT007003, BU631634, CX788871

Consensus CDS

CCDS523.1

UniProtKB/Swiss-Prot

A8KAL8, D3DQ04, P14550, Q6IAZ4

UniProtKB/TrEMBL

V9HWI0

Conserved Domains (1) summary

COG0656
Location:6 → 303

ARA1; Aldo/keto reductase, related to diketogulonate reductase [Secondary metabolites biosynthesis, transport and catabolism]
NM_006066.4 → NP_006057.1 aldo-keto reductase family 1 member A1

See identical proteins and their annotated locations for NP_006057.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. All variants encode the same protein.

Source sequence(s)

BC000670, BU631634, DA871469

Consensus CDS

CCDS523.1

UniProtKB/Swiss-Prot

A8KAL8, D3DQ04, P14550, Q6IAZ4

UniProtKB/TrEMBL

V9HWI0

Related

ENSP00000361140.3, ENST00000372070.7

Conserved Domains (1) summary

COG0656
Location:6 → 303

ARA1; Aldo/keto reductase, related to diketogulonate reductase [Secondary metabolites biosynthesis, transport and catabolism]
NM_153326.3 → NP_697021.1 aldo-keto reductase family 1 member A1

See identical proteins and their annotated locations for NP_697021.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR, compared to variant 1. All variants encode the same protein.

Source sequence(s)

BI549149, BT007003, BU631634, DA550374

Consensus CDS

CCDS523.1

UniProtKB/Swiss-Prot

A8KAL8, D3DQ04, P14550, Q6IAZ4

UniProtKB/TrEMBL

V9HWI0

Related

ENSP00000312606.4, ENST00000351829.9

Conserved Domains (1) summary

COG0656
Location:6 → 303

ARA1; Aldo/keto reductase, related to diketogulonate reductase [Secondary metabolites biosynthesis, transport and catabolism]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

45550826..45570049

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011540491.3 → XP_011538793.1 aldo-keto reductase family 1 member A1 isoform X1

See identical proteins and their annotated locations for XP_011538793.1

Conserved Domains (1) summary

cl00470
Location:1 → 201

AKR_SF; Aldo-keto reductase (AKR) superfamily
XM_047428815.1 → XP_047284771.1 aldo-keto reductase family 1 member A1 isoform X2
XM_047428790.1 → XP_047284746.1 aldo-keto reductase family 1 member A1 isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

45423192..45442415

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054333807.1 → XP_054189782.1 aldo-keto reductase family 1 member A1 isoform X1
XM_054333809.1 → XP_054189784.1 aldo-keto reductase family 1 member A1 isoform X2
XM_054333808.1 → XP_054189783.1 aldo-keto reductase family 1 member A1 isoform X2