ART3: ADP-Ribosyltransferase 3
A comprehensive biomedical overview of the ART3 gene, including its genomic context, expression, and disease associations.
Gene Information Card
| Symbol | ART3 |
|---|---|
| Full Name | ADP-ribosyltransferase 3 (inactive) [Homo sapiens] |
| Gene Type | protein-coding |
| Chromosomal Location | 4p15.2 |
| NCBI Gene ID | 419 ncbi.nlm.nih.gov/gene/419 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | Q13508 |
| OMIM ID | 603086 |
| HGNC ID | 726 |
| Aliases | ARTC3, ART3P, CD297 |
Description
ART3 encodes a member of the ADP-ribosyltransferase family. The encoded protein is a glycosylphosphatidylinositol (GPI)-anchored cell surface enzyme that catalyzes the transfer of ADP-ribose from NAD+ to target proteins. Although the protein is catalytically inactive in humans due to critical amino acid substitutions, it may play a role in cell-cell interactions and immune regulation. The gene is located on chromosome 4p15.2 and is expressed in various tissues, particularly in the testis and skeletal muscle.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Skeletal Muscle | 8.2 | Low |
| Heart | 5.1 | Low |
| Lung | 3.0 | Not detected |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 4.5 | Low expression |
| K562 | 2.1 | Not detected |
| HeLa | 1.8 | Not detected |
| HepG2 | 0.9 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon |
| c.100C>T (p.Arg34Trp) | missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant negative effects.
View complete mutation data：
Gene Ontology (GO)
| • NAD+ ADP-ribosyltransferase activity (GO:0003950) | • integral component of membrane (GO:0016021) |
| • plasma membrane (GO:0005886) | • cell surface (GO:0009986) |
| • protein ADP-ribosylation (GO:0006471) |
Pathways
• No specific pathways curated in Reactome or KEGG for ART3.
Protein Summary
ART3 encodes a GPI-anchored cell surface protein of the ADP-ribosyltransferase family. In humans, the protein is catalytically inactive due to key residue changes, but it may still participate in cell adhesion or signaling. The protein is expressed predominantly in testis and skeletal muscle. Its biological function remains incompletely understood, and no strong disease associations have been established.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ART3 Knockout HEK293 Cell Line | EDJ-KQ4100 | Human | 419 | Details Get a Quote |
| ART3 Knockout HeLa Cell Line | EDJ-KQ52667 | Human | 419 | Details Get a Quote |
| ART3 Knockout A-549 Cell Line | EDJ-KQ61138 | Human | 419 | Details Get a Quote |
| ART3 Knockout HCT 116 Cell Line | EDJ-KQ69627 | Human | 419 | Details Get a Quote |
