ART1
protein-codingADP-ribosyltransferase 1, the group of ADP-ribosyltransferase family|CD molecules
Gene summary
ADP-ribosyltransferase catalyzes the ADP-ribosylation of arginine residues in proteins. Mono-ADP-ribosylation is a posttranslational modification of proteins that is interfered with by a variety of bacterial toxins including cholera, pertussis, and heat-labile enterotoxins of E. coli. The amino acid sequence consists of predominantly hydrophobic N- and C-terminal regions, which is characteristic of glycosylphosphatidylinositol (GPI)-anchored proteins. This gene was previously designated ART2. [provided by RefSeq, Jul 2008]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~19.3 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 ART1 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_004314.3. 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 | 2 | ||||
| missense | 73 | 2 | 75 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 73 | 2 | 2 | 77 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_004305.2 | 4 | MANE Select | |
| Ensembl | ENSP00000250693.1 | 4 | MANE Select | |
| Ensembl | ENSP00000618815.1 | 4 | Standard | |
| Ensembl | ENSP00000618815.1 | 4 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Vitamin B3 (nicotinate and nicotinamide) metabolism
- Antimicrobial peptides
- Innate Immune System
- Immune System
- Alpha-defensins
Biological Process
- protein ADP-ribosylation
- peptidyl-arginine ADP-ribosylation
Molecular Function
- NAD+ ADP-ribosyltransferase activity
- NAD(P)+-protein-arginine ADP-ribosyltransferase activity
Cellular Component
- plasma membrane
- cell surface
- anchored component of membrane
- sarcoplasmic reticulum membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000250693
- Coding exons
- 4
- Length
- 19289
- Individuals with no LoFs
- 125358
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 390
- Defined
- 125748
- p
- 0.00155
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.707 | 227 | 199 | 1.14 | 0.0000116 | 2105 |
| Missense (PolyPhen) | 72 | 57.318 | 1.2562 | 694 | ||
| Synonymous | -1.60 | 100 | 81.6 | 1.23 | 0.00000465 | 689 |
| Loss of Function | -0.577 | 16 | 13.7 | 1.17 | 9.70e-7 | 110 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00044 | 0.00043 | rare |
| Latino/Admixed American | 0.0012 | 0.0012 | notable |
| Ashkenazi Jewish | 0.0032 | 0.0032 | notable |
| East Asian | 0.00082 | 0.00082 | rare |
| Finnish | 0.00034 | 0.00032 | rare |
| European (Non-Finnish) | 0.0017 | 0.0017 | notable |
| South Asian | 0.0030 | 0.0029 | notable |
| Other | 0.0015 | 0.0015 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Has ADP-ribosyltransferase activity toward GLP1R. {ECO:0000269|PubMed:21901419}.;
Recessive Scores
- pRec
- 0.182
Intolerance Scores
- LoFtool
- 0.921
- RVIS EVS
- 1.04
- RVIS percentile EVS
- 91.31
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.262
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |