NRBP1
protein-codingnuclear receptor binding protein 1
Gene summary
Predicted to enable protein homodimerization activity and protein serine/threonine kinase activity. Involved in endoplasmic reticulum to Golgi vesicle-mediated transport. Located in cytosol and endomembrane system. [provided by Alliance of Genome Resources, Jun 2026]
- NRBP
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~14.5 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 NRBP1 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_013392.4. 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 | 1 | 1 | ||||
| missense | 30 | 1 | 31 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 12 | 12 | ||||
| Total | 0 | 0 | 43 | 0 | 1 | 44 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_037524.1 | 17 | MANE Select | |
| Ensembl | ENSP00000369181.3 | 17 | MANE Select | |
| RefSeq | NP_001308286.1 | 17 | Standard | |
| RefSeq | NP_001308287.1 | 18 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Gene expression (Transcription)
- Generic Transcription Pathway
- Nuclear Receptor transcription pathway
- RNA Polymerase II Transcription
Biological Process
- transcription initiation from RNA polymerase II promoter
- protein phosphorylation
- endoplasmic reticulum to Golgi vesicle-mediated transport
- intracellular signal transduction
Molecular Function
- protein serine/threonine kinase activity
- protein binding
- ATP binding
- protein homodimerization activity
Cellular Component
- nucleoplasm
- cytoplasm
- cell cortex
- endomembrane system
- membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000233557
- Coding exons
- 17
- Length
- 14470
- Individuals with no LoFs
- 125745
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 2
- Defined
- 125747
- p
- 0.00000795
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 3.43 | 129 | 294 | 0.438 | 0.0000155 | 3493 |
| Missense (PolyPhen) | 20 | 118.94 | 0.16815 | 1483 | ||
| Synonymous | 1.16 | 97 | 113 | 0.861 | 0.00000610 | 1034 |
| Loss of Function | 5.34 | 1 | 35.2 | 0.0284 | 0.00000185 | 396 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0 | 0.0 | absent |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.0000088 | 0.0000088 | rare |
| South Asian | 0 | 0.0 | absent |
| Other | 0.00016 | 0.00016 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: May play a role in subcellular trafficking between the endoplasmic reticulum and Golgi apparatus through interactions with the Rho-type GTPases. Binding to the NS3 protein of dengue virus type 2 appears to subvert this activity into the alteration of the intracellular membrane structure associated with flaviviral replication. {ECO:0000269|PubMed:11956649, ECO:0000269|PubMed:15084397, ECO:0000303|PubMed:11956649}.;
Recessive Scores
- pRec
- 0.124
Intolerance Scores
- LoFtool
- 0.288
- RVIS EVS
- -0.27
- RVIS percentile EVS
- 34.32
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- E
- Essential (gene trap)
- H
- Indispensability pred.
- E
- Indispensability score
- 0.973
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |