NDOR1
protein-codingNADPH dependent diflavin oxidoreductase 1, the group of Cytosolic iron-sulfur assembly components
Gene summary
This gene encodes an NADPH-dependent diflavin reductase that contains both flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) binding domains. The encoded protein catalyzes the transfer of electrons from NADPH through FAD and FMN cofactors to potential redox partners. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~13.7 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 NDOR1 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_014434.4. 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 | 3 | 2 | 5 | |||
| missense | 140 | 5 | 145 | |||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 2 | 2 | ||||
| Total | 0 | 0 | 146 | 7 | 0 | 153 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_055249.1 | 14 | MANE Select | |
| Ensembl | ENSP00000507194.1 | 14 | MANE Select | |
| RefSeq | NP_001137498.1 | 14 | Standard | |
| RefSeq | NP_001137499.1 | 13 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Metabolism
- Cytosolic iron-sulfur cluster assembly
Biological Process
- cell death
- iron-sulfur cluster assembly
- cellular response to menadione
- oxidation-reduction process
Molecular Function
- NADPH-hemoprotein reductase activity
- protein binding
- FMN binding
- oxidoreductase activity
- flavin adenine dinucleotide binding
Cellular Component
- nucleus
- cytoplasm
- cytosol
- intermediate filament cytoskeleton
- perinuclear region of cytoplasm
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000371521
- Coding exons
- 14
- Length
- 11315
- Individuals with no LoFs
- 125620
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 127
- Defined
- 125747
- p
- 0.000505
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.614 | 422 | 388 | 1.09 | 0.0000256 | 3834 |
| Missense (PolyPhen) | 123 | 131.08 | 0.93838 | 1360 | ||
| Synonymous | -1.16 | 187 | 168 | 1.11 | 0.0000106 | 1307 |
| Loss of Function | 1.20 | 23 | 30.1 | 0.764 | 0.00000154 | 303 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00031 | 0.00031 | rare |
| Latino/Admixed American | 0.00014 | 0.00014 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00093 | 0.00092 | rare |
| Finnish | 0.0026 | 0.0024 | notable |
| European (Non-Finnish) | 0.00029 | 0.00028 | rare |
| South Asian | 0.00046 | 0.00046 | rare |
| Other | 0.00050 | 0.00049 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Component of the cytosolic iron-sulfur (Fe-S) protein assembly (CIA) machinery. Required for the maturation of extramitochondrial Fe-S proteins (By similarity). Part of an electron transfer chain functioning in an early step of cytosolic Fe-S biogenesis. Transfers electrons from NADPH to the Fe/S cluster of CIAPIN1. {ECO:0000255|HAMAP-Rule:MF_03178, ECO:0000269|PubMed:10625700, ECO:0000269|PubMed:20802492, ECO:0000269|PubMed:23596212}.;
Recessive Scores
- pRec
- 0.133
Intolerance Scores
- LoFtool
- 0.0805
- RVIS EVS
- 0.98
- RVIS percentile EVS
- 90.46
Essentials
- Essential (CRISPR)
- E
- Essential (CRISPR2)
- E
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.795
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |