AKR1C1 aldo-keto reductase family 1 member C1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: AKR1C1provided by HGNC
Official Full Name: aldo-keto reductase family 1 member C1provided by HGNC
Primary source: HGNC:HGNC:384
See related: Ensembl:ENSG00000187134 MIM:600449; AllianceGenome:HGNC:384
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: C9; DD1; DDH; DDH1; H-37; HBAB; MBAB; HAKRC; DD1/DD2; 2-ALPHA-HSD; 20-ALPHA-HSD
Summary: This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the reaction of progesterone to the inactive form 20-alpha-hydroxy-progesterone. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008]
Expression: Biased expression in liver (RPKM 85.2), fat (RPKM 74.3) and 13 other tissues See more
Orthologs: all
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Genomic context

Location:: 10p15.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (4963415..4983283)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (4963746..4983614)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (5005607..5025475)

Chromosome 10 - NC_000010.11 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: 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?

Regulation of 20alpha-Hydroxysteroid Dehydrogenase Expression in Term Pregnant Human Myometrium Ex Vivo.
Title: Regulation of 20α-Hydroxysteroid Dehydrogenase Expression in Term Pregnant Human Myometrium Ex Vivo.
AKR1C1 and hormone metabolism in lipedema pathogenesis: a computational biology approach.
Title: AKR1C1 and hormone metabolism in lipedema pathogenesis: a computational biology approach.
20alpha-Hydroxysteroid Dehydrogenase Expression in the Human Myometrium at Term and Preterm Birth: Relationships to Fetal Sex and Maternal Body Mass Index.
Title: 20α-Hydroxysteroid Dehydrogenase Expression in the Human Myometrium at Term and Preterm Birth: Relationships to Fetal Sex and Maternal Body Mass Index.
AKR1C1 Protects Corneal Epithelial Cells Against Oxidative Stress-Mediated Ferroptosis in Dry Eye.
Title: AKR1C1 Protects Corneal Epithelial Cells Against Oxidative Stress-Mediated Ferroptosis in Dry Eye.
Transcriptomic Profiling Reveals AKR1C1 and AKR1C3 Mediate Cisplatin Resistance in Signet Ring Cell Gastric Carcinoma via Autophagic Cell Death.
Title: Transcriptomic Profiling Reveals AKR1C1 and AKR1C3 Mediate Cisplatin Resistance in Signet Ring Cell Gastric Carcinoma via Autophagic Cell Death.
Aldo-keto reductase family 1 member C1 regulates the osteogenic differentiation of human ASCs by targeting the progesterone receptor.
Title: Aldo-keto reductase family 1 member C1 regulates the osteogenic differentiation of human ASCs by targeting the progesterone receptor.
AKR1C1 Contributes to Cervical Cancer Progression via Regulating TWIST1 Expression.
Title: AKR1C1 Contributes to Cervical Cancer Progression via Regulating TWIST1 Expression.
Loss of AKR1C1 is a good prognostic factor in advanced NPC cases and increases chemosensitivity to cisplatin in NPC cells.
Title: Loss of AKR1C1 is a good prognostic factor in advanced NPC cases and increases chemosensitivity to cisplatin in NPC cells.
The SIRT2-mediated deacetylation of AKR1C1 is required for suppressing its pro-metastasis function in Non-Small Cell Lung Cancer.
Title: The SIRT2-mediated deacetylation of AKR1C1 is required for suppressing its pro-metastasis function in Non-Small Cell Lung Cancer.
Aldo-Keto Reductase 1C1 (AKR1C1) as the First Mutated Gene in a Family with Nonsyndromic Primary Lipedema.
Title: Aldo-Keto Reductase 1C1 (AKR1C1) as the First Mutated Gene in a Family with Nonsyndromic Primary Lipedema.

Submit: New GeneRIF Correction See all GeneRIFs (55)

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

EBI GWAS Catalog

Description
The genetic architecture of economic and political preferences. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

SHGC-12403 (e-PCR)
- UniSTS:73049

SHGC-100143 (e-PCR)
- UniSTS:182152

STS-U05861 (e-PCR)
- UniSTS:52114

STS-R98791 (e-PCR)
- UniSTS:1968

RH92273 (e-PCR)
- UniSTS:88528

RH11162 (e-PCR)
- UniSTS:89050

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity	IEA Inferred from Electronic Annotation more info
enables 3beta-hydroxy-5beta-steroid dehydrogenase activity	IEA Inferred from Electronic Annotation more info
enables 5alpha-androstane-3beta,17beta-diol dehydrogenase activity	IEA Inferred from Electronic Annotation more info
enables aldo-keto reductase (NADPH) activity	TAS Traceable Author Statement more info	PubMed
enables aldose reductase (NADPH) activity	IBA Inferred from Biological aspect of Ancestor more info
enables aldose reductase (NADPH) activity	IDA Inferred from Direct Assay more info	PubMed
enables androstan-3-alpha,17-beta-diol dehydrogenase activity	IEA Inferred from Electronic Annotation more info
enables androsterone dehydrogenase (B-specific) activity	IDA Inferred from Direct Assay more info	PubMed
enables androsterone dehydrogenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables bile acid binding	IBA Inferred from Biological aspect of Ancestor more info
enables bile acid binding	IDA Inferred from Direct Assay more info	PubMed
enables carboxylic acid binding	IDA Inferred from Direct Assay more info	PubMed
enables estradiol 17-beta-dehydrogenase [NAD(P)+] activity	IEA Inferred from Electronic Annotation more info
enables indanol dehydrogenase activity	IEA Inferred from Electronic Annotation more info
enables ketosteroid monooxygenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ketosteroid monooxygenase activity	IDA Inferred from Direct Assay more info	PubMed
enables oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables steroid dehydrogenase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	TAS Traceable Author Statement more info
enables testosterone 17-beta-dehydrogenase (NADP+) activity	IEA Inferred from Electronic Annotation more info
enables testosterone dehydrogenase [NAD(P)+] activity	IEA Inferred from Electronic Annotation more info
enables trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in bile acid and bile salt transport	TAS Traceable Author Statement more info	PubMed
involved_in bile acid metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to jasmonic acid stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in cholesterol homeostasis	TAS Traceable Author Statement more info	PubMed
involved_in daunorubicin metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in daunorubicin metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in digestion	IDA Inferred from Direct Assay more info	PubMed
involved_in doxorubicin metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in doxorubicin metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in epithelial cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in intestinal cholesterol absorption	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of reactive oxygen species metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in progesterone metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in progesterone metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in prostaglandin metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to organophosphorus	IEP Inferred from Expression Pattern more info	PubMed
involved_in retinal metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in retinoid metabolic process	TAS Traceable Author Statement more info
involved_in xenobiotic metabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in xenobiotic metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
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

General protein information

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Preferred Names: aldo-keto reductase family 1 member C1

Names: 20 alpha-hydroxysteroid dehydrogenase; aldo-keto reductase C; chlordecone reductase homolog HAKRC; dihydrodiol dehydrogenase 1; dihydrodiol dehydrogenase 1/2; dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase; hepatic dihydrodiol dehydrogenase; high-affinity hepatic bile acid-binding protein; indanol dehydrogenase; trans-1,2-dihydrobenzene-1,2-diol dehydrogenase; type II 3-alpha-hydroxysteroid dehydrogenase

NP_001344.2

EC 1.1.1.112

EC 1.1.1.149

EC 1.1.1.209

EC 1.1.1.210

EC 1.1.1.357

EC 1.1.1.51

EC 1.1.1.53

EC 1.1.1.62

EC 1.3.1.20

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.