AKR1B10
protein-codingaldo-keto reductase family 1 member B10, the group of Aldo-keto reductases
Gene summary
This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member can efficiently reduce aliphatic and aromatic aldehydes, and it is less active on hexoses. It is highly expressed in adrenal gland, small intestine, and colon, and may play an important role in liver carcinogenesis. [provided by RefSeq, Jul 2008]
- AKR1B11
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~13.8 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to AKR1B10 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_020299.5. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 2 | 4 | 6 | |||
| missense | 36 | 2 | 38 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 39 | 6 | 0 | 45 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_064695.3 | 10 | MANE Select | |
| Ensembl | ENSP00000352584.4 | 10 | MANE Select | |
| Ensembl | ENSP00000568909.1 | 9 | Standard | |
| Ensembl | ENSP00000568909.1 | 9 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- 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)
Biological Process
- retinoid metabolic process
- farnesol catabolic process
- daunorubicin metabolic process
- doxorubicin metabolic process
- oxidation-reduction process
Molecular Function
- retinal dehydrogenase activity
- alditol:NADP+ 1-oxidoreductase activity
- aldo-keto reductase (NADP) activity
- protein binding
- alcohol dehydrogenase (NADP+) activity
Cellular Component
- extracellular region
- mitochondrion
- lysosome
- cytosol
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000359579
- Coding exons
- 10
- Length
- 13817
- Individuals with no LoFs
- 125537
- Homozygous LoFs
- 3
- Heterozygous LoFs
- 201
- Defined
- 125741
- p
- 0.000812
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.193 | 180 | 173 | 1.04 | 0.00000893 | 2082 |
| Missense (PolyPhen) | 61 | 58.305 | 1.0462 | 780 | ||
| Synonymous | -0.932 | 77 | 67.3 | 1.14 | 0.00000384 | 573 |
| Loss of Function | 0.620 | 14 | 16.7 | 0.836 | 7.06e-7 | 214 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0018 | 0.0018 | notable |
| Latino/Admixed American | 0.00061 | 0.00061 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00051 | 0.00049 | rare |
| Finnish | 0.00018 | 0.00018 | rare |
| European (Non-Finnish) | 0.00042 | 0.00042 | rare |
| South Asian | 0.0030 | 0.0029 | notable |
| Other | 0.00082 | 0.00081 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Acts as all-trans-retinaldehyde reductase. Can efficiently reduce aliphatic and aromatic aldehydes, and is less active on hexoses (in vitro). May be responsible for detoxification of reactive aldehydes in the digested food before the nutrients are passed on to other organs. {ECO:0000269|PubMed:18087047}.;
Recessive Scores
- pRec
- 0.320
Intolerance Scores
- LoFtool
- 0.904
- RVIS EVS
- 0.37
- RVIS percentile EVS
- 75.43
Essentials
- Essential (CRISPR)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.916
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |