EIPR1
EIPR1 (EARP Complex and GARP Complex Interacting Protein 1) is a protein-coding gene involved in endosomal trafficking and recycling.
Gene Information Card
| Symbol | EIPR1 |
|---|---|
| Full Name | EARP Complex and GARP Complex Interacting Protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p13.1 |
| NCBI Gene ID | 123722 ncbi.nlm.nih.gov/gene/123722 |
| Ensembl ID | ENSG00000163026 |
| UniProt ID | Q5VXU3 |
| OMIM ID | 619237 |
| HGNC ID | 28312 |
| Aliases | C2orf74, FLJ22662, MGC13170 |
Description
EIPR1 encodes a protein that interacts with the EARP (endosome-associated recycling protein) and GARP (Golgi-associated retrograde protein) complexes, which are tethering complexes involved in endosomal-to-Golgi and endosomal recycling pathways. The protein is thought to play a role in the sorting and trafficking of membrane proteins, including receptors and transporters, and may influence cellular signaling and homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in OMIM or ClinVar as of current data | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.0 | Moderate expression |
| HeLa | 7.5 | Low expression |
| K562 | 6.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% (gnomAD) | Potential loss of start codon; functional impact unknown |
| c.100C>T (p.Arg34Trp) | missense | <0.01% (gnomAD) | Rare variant; no known disease association |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in EIPR1.
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)
| • protein binding | • endosome to Golgi transport |
| • intracellular protein transport | • GARP complex |
| • EARP complex |
Pathways
• Endosomal recycling pathway
• Golgi-to-endosome retrograde transport
Protein Summary
The EIPR1 protein is a 244-amino acid polypeptide that localizes to endosomes and the Golgi apparatus. It interacts with VPS51, VPS52, VPS53, and VPS54 subunits of the GARP and EARP complexes, facilitating tethering and fusion of vesicles. The protein contains a coiled-coil domain and is conserved across eukaryotes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EIPR1 Knockout HEK293 Cell Line | EDJ-KQ3885 | Human | 7260 | Details Get a Quote |
| EIPR1 Knockout A-549 Cell Line | EDJ-KQ26102 | Human | 7260 | Details Get a Quote |
| EIPR1 Knockout HCT 116 Cell Line | EDJ-KQ26103 | Human | 7260 | Details Get a Quote |
| EIPR1 Knockout HeLa Cell Line | EDJ-KQ26104 | Human | 7260 | Details Get a Quote |
