AKR1A1
aldo-keto reductase family 1 member A1, the group of Aldo-keto reductases
Basic information
Region (hg38): 1:45550543-45570049
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the AKR1A1 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 | 2 | |||||
| missense | 13 | 14 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 1 | |||||
| Total | 0 | 0 | 13 | 2 | 2 |
Variants in AKR1A1
This is a list of pathogenic ClinVar variants found in the AKR1A1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 1-45561837-C-T | not specified | Uncertain significance (Mar 13, 2023) | ||
| 1-45566609-G-A | not specified | Uncertain significance (Jun 17, 2024) | ||
| 1-45566634-C-T | Likely benign (May 29, 2018) | |||
| 1-45566635-G-A | Benign (Aug 09, 2018) | |||
| 1-45566651-T-C | not specified | Uncertain significance (Oct 16, 2023) | ||
| 1-45566870-C-T | not specified | Uncertain significance (Dec 23, 2022) | ||
| 1-45566955-G-C | not specified | Uncertain significance (Jan 23, 2023) | ||
| 1-45568068-A-T | not specified | Uncertain significance (Oct 05, 2023) | ||
| 1-45568113-A-G | not specified | Uncertain significance (Dec 19, 2023) | ||
| 1-45568546-T-C | not specified | Uncertain significance (Mar 21, 2022) | ||
| 1-45568629-G-A | not specified | Uncertain significance (Jul 09, 2021) | ||
| 1-45568969-C-G | not specified | Uncertain significance (Feb 26, 2024) | ||
| 1-45568977-C-T | not specified | Uncertain significance (Jul 26, 2022) | ||
| 1-45569163-C-A | not specified | Uncertain significance (Apr 22, 2022) | ||
| 1-45569194-A-T | not specified | Uncertain significance (Dec 30, 2023) | ||
| 1-45569881-C-G | Benign (Mar 29, 2018) | |||
| 1-45569899-G-A | Likely benign (Sep 01, 2022) | |||
| 1-45569927-C-T | not specified | Uncertain significance (Sep 17, 2021) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| AKR1A1 | protein_coding | protein_coding | ENST00000372070 | 8 | 19507 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 6.66e-7 | 0.711 | 125627 | 0 | 120 | 125747 | 0.000477 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -0.0212 | 191 | 190 | 1.00 | 0.0000108 | 2106 |
| Missense in Polyphen | 62 | 58.37 | 1.0622 | 701 | ||
| Synonymous | 0.529 | 67 | 72.7 | 0.921 | 0.00000383 | 658 |
| Loss of Function | 1.19 | 12 | 17.3 | 0.692 | 8.91e-7 | 190 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000333 | 0.000333 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000707 | 0.000707 |
| Finnish | 0.000370 | 0.000370 |
| European (Non-Finnish) | 0.000642 | 0.000642 |
| Middle Eastern | 0.000707 | 0.000707 |
| South Asian | 0.000490 | 0.000490 |
| Other | 0.000656 | 0.000652 |
dbNSFP
Source:
- Function
- FUNCTION: Catalyzes the NADPH-dependent reduction of a variety of aromatic and aliphatic aldehydes to their corresponding alcohols. Catalyzes the reduction of mevaldate to mevalonic acid and of glyceraldehyde to glycerol. Has broad substrate specificity. In vitro substrates include succinic semialdehyde, 4- nitrobenzaldehyde, 1,2-naphthoquinone, methylglyoxal, and D- glucuronic acid. Plays a role in the activation of procarcinogens, such as polycyclic aromatic hydrocarbon trans-dihydrodiols, and in the metabolism of various xenobiotics and drugs, including the anthracyclines doxorubicin (DOX) and daunorubicin (DAUN). {ECO:0000269|PubMed:10510318, ECO:0000269|PubMed:11306097, ECO:0000269|PubMed:18276838}.;
- Pathway
- Glycolysis / Gluconeogenesis - Homo sapiens (human);Glycerolipid metabolism - Homo sapiens (human);Doxorubicin Pathway (Cardiomyocyte Cell), Pharmacodynamics;Doxorubicin Pathway, Pharmacokinetics;Pentose and glucuronate interconversions - Homo sapiens (human);Cyclophosphamide Pathway, Pharmacodynamics;Ifosfamide Pathway, Pharmacodynamics;Doxorubicin Metabolism Pathway;Benzo(a)pyrene metabolism;Metapathway biotransformation Phase I and II;Metabolism of carbohydrates;Glutathione conjugation;Phase II - Conjugation of compounds;Glycolysis and Gluconeogenesis;Biological oxidations;Metabolism;tryptophan degradation via tryptamine;Glycerophospholipid metabolism;superpathway of tryptophan utilization;Catabolism of glucuronate to xylulose-5-phosphate
(Consensus)
Recessive Scores
- pRec
- 0.223
Intolerance Scores
- loftool
- 0.985
- rvis_EVS
- 0.31
- rvis_percentile_EVS
- 72.6
Haploinsufficiency Scores
- pHI
- 0.271
- hipred
- N
- hipred_score
- 0.466
- ghis
- 0.478
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.995
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Akr1a1
- Phenotype
- respiratory system phenotype; hematopoietic system 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); reproductive system phenotype; immune system phenotype; renal/urinary system phenotype; skeleton phenotype; growth/size/body region phenotype; craniofacial phenotype; homeostasis/metabolism phenotype; cellular phenotype;
Gene ontology
- Biological process
- glucose metabolic process;cellular aldehyde metabolic process;glucuronate catabolic process to xylulose 5-phosphate;L-ascorbic acid biosynthetic process;electron transport chain;D-glucuronate catabolic process;aldehyde catabolic process;glutathione derivative biosynthetic process
- Cellular component
- extracellular space;cytosol;apical plasma membrane;synapse;extracellular exosome
- Molecular function
- alditol:NADP+ 1-oxidoreductase activity;aldo-keto reductase (NADP) activity;protein binding;alcohol dehydrogenase (NADP+) activity;electron transfer activity;oxidoreductase activity;L-glucuronate reductase activity