AKR1B1

aldo-keto reductase family 1 member B, the group of Aldo-keto reductases

Basic information

Region (hg38): 7:134442355-134459284

Previous symbols: [ "ALDR1" ]

Links

ENSG00000085662 ∙ NCBI:231 ∙ OMIM:103880 ∙ HGNC:381 ∙ Uniprot:P15121 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the AKR1B1 gene.

• Inborn genetic diseases (9 variants)
• not provided (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AKR1B1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				4	3	7
missense			9			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	9	4	3

Variants in AKR1B1

This is a list of pathogenic ClinVar variants found in the AKR1B1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
7-134442743-G-A			Likely benign (Dec 31, 2019)
7-134445282-G-A			Likely benign (Apr 07, 2018)
7-134447320-T-C		not specified	Uncertain significance (May 27, 2022)
7-134447336-T-C		not specified	Uncertain significance (Aug 17, 2021)
7-134448001-C-T			Benign (Dec 31, 2019)
7-134448018-T-C		not specified	Uncertain significance (Jun 06, 2023)
7-134448391-G-A		not specified	Uncertain significance (Apr 12, 2022)
7-134448403-A-G		not specified	Uncertain significance (Dec 27, 2022)
7-134448407-G-A			Likely benign (Dec 31, 2019)
7-134449020-T-C		not specified	Uncertain significance (Feb 17, 2024)
7-134449714-T-C			Benign (Dec 31, 2019)
7-134449726-C-T			Benign (Dec 31, 2019)
7-134449765-C-T			Likely benign (Dec 31, 2019)
7-134450812-G-C		not specified	Uncertain significance (May 11, 2022)
7-134450843-G-A			Benign (Dec 31, 2019)
7-134451594-C-T		not specified	Uncertain significance (Jul 12, 2022)
7-134451635-T-C		not specified	Uncertain significance (May 24, 2023)
7-134451734-G-A		not specified	Uncertain significance (Aug 17, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AKR1B1	protein_coding	protein_coding	ENST00000285930	10	16935

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000202	0.905	125727	0	21	125748	0.0000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.405	157	172	0.913	0.0000100	2093
Missense in Polyphen		29	48.17	0.60204		642
Synonymous	-0.214	70	67.8	1.03	0.00000423	572
Loss of Function	1.57	10	17.0	0.588	7.54e-7	209

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000121	0.000119
Ashkenazi Jewish	0.000198	0.000198
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000889	0.0000879
Middle Eastern	0.00	0.00
South Asian	0.000166	0.000163
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Catalyzes the NADPH-dependent reduction of a wide variety of carbonyl-containing compounds to their corresponding alcohols with a broad range of catalytic efficiencies.
• Pathway: Folate biosynthesis - Homo sapiens (human);Fructose and mannose metabolism - Homo sapiens (human);Glycerolipid metabolism - Homo sapiens (human);Galactose metabolism - Homo sapiens (human);Pentose and glucuronate interconversions - Homo sapiens (human);Cyclophosphamide Pathway, Pharmacodynamics;Ifosfamide Pathway, Pharmacodynamics;Sepiapterin reductase deficiency;Segawa syndrome;Pyruvate Dehydrogenase Complex Deficiency;Fructose intolerance, hereditary;Galactose Metabolism;Familial lipoprotein lipase deficiency;Pterine Biosynthesis;Primary hyperoxaluria II, PH2;Pyruvate kinase deficiency;Leigh Syndrome;Glycerolipid Metabolism;Fructose and Mannose Degradation;Pyruvate Metabolism;Glycerol Kinase Deficiency;Galactosemia;Pyruvate Decarboxylase E1 Component Deficiency (PDHE1 Deficiency);Dopa-responsive dystonia;Hyperphenylalaniemia due to guanosine triphosphate cyclohydrolase deficiency;Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency (ptps);Hyperphenylalaninemia due to dhpr-deficiency;Fructosuria;D-glyceric acidura;Polyol Pathway;Metapathway biotransformation Phase I and II;Fructose biosynthesis;Fructose metabolism;Metabolism of carbohydrates;Metabolism of lipids;Fructose Mannose metabolism;acetone degradation I (to methylglyoxal);Metabolism;Pregnenolone biosynthesis;Metabolism of steroid hormones;Metabolism of steroids;Galactose metabolism;Glycerophospholipid metabolism;methylglyoxal degradation III;Steroid hormones (Consensus)

Recessive Scores

• pRec: 0.481

Intolerance Scores

• loftool: 0.763
• rvis_EVS: -0.18
• rvis_percentile_EVS: 40.16

Haploinsufficiency Scores

• pHI: 0.315
• hipred: N
• hipred_score: 0.170
• ghis: 0.432

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.826

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Akr1b3
• Phenotype: renal/urinary system phenotype; skeleton phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); homeostasis/metabolism phenotype; growth/size/body region phenotype

Gene ontology

• Biological process: tissue homeostasis;renal water homeostasis;carbohydrate metabolic process;sorbitol biosynthetic process;C21-steroid hormone biosynthetic process;response to water deprivation;naphthalene metabolic process;electron transport chain;stress-activated protein kinase signaling cascade;regulation of urine volume;norepinephrine metabolic process;negative regulation of apoptotic process;daunorubicin metabolic process;doxorubicin metabolic process;fructose biosynthetic process;positive regulation of JAK-STAT cascade;positive regulation of smooth muscle cell proliferation;oxidation-reduction process;maternal process involved in female pregnancy;cellular hyperosmotic salinity response;inner medullary collecting duct development;response to thyroid hormone;cellular response to methylglyoxal;cellular response to peptide
• Cellular component: extracellular space;nucleoplasm;cytosol;plasma membrane bounded cell projection cytoplasm;paranodal junction;mast cell granule;Schmidt-Lanterman incisure;perinuclear region of cytoplasm;extracellular exosome;Schwann cell microvillus
• Molecular function: alditol:NADP+ 1-oxidoreductase activity;alcohol dehydrogenase (NADP+) activity;electron transfer activity;oxidoreductase activity;glyceraldehyde oxidoreductase activity