GOLIM4
Golgi Integral Membrane Protein 4
Gene Information Card
| Symbol | GOLIM4 |
|---|---|
| Full Name | Golgi Integral Membrane Protein 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q26.2 |
| NCBI Gene ID | 27333 ncbi.nlm.nih.gov/gene/27333 |
| Ensembl ID | ENSG00000163947 |
| UniProt ID | O00461 |
| OMIM ID | 606526 |
| HGNC ID | 15463 |
| Aliases | GPP130, GOLPH4, P138, GIMPC |
Description
GOLIM4 (Golgi Integral Membrane Protein 4) encodes a type II Golgi transmembrane protein that cycles between the Golgi apparatus and endosomes. It is involved in maintaining Golgi structure and function, and may play a role in intracellular trafficking and cell signaling. The protein is also known as GPP130 and is a target of autoantibodies in some autoimmune conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Overexpression and altered localization observed in tumor tissues; potential role in cell proliferation and migration. | COSMIC, literature |
| Autoimmune disease | Autoantibodies against GOLIM4 detected in patients with rheumatoid arthritis and other autoimmune disorders. | Literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Lung | 8.9 | Medium |
| Brain | 6.3 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.0 | Cervical cancer cell line |
| HEK293 | 12.3 | Embryonic kidney cells |
| HepG2 | 14.7 | Liver cancer cell line |
| A549 | 11.8 | Lung cancer cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.02% | p.Pro412Ser; uncertain significance |
| c.567_569del | In-frame deletion | 0.01% | p.Lys189del; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data:
Gene Ontology (GO)
| • Golgi membrane (GO:0000139) | • Golgi apparatus (GO:0005794) |
| • Integral component of membrane (GO:0016021) | • Endocytosis (GO:0006897) |
| • Intracellular protein transport (GO:0006886) |
Pathways
• ['Golgi-to-endosome transport'
• 'Reactome']
• ['Membrane trafficking'
• 'Reactome']
Protein Summary
GOLIM4 is a 138 kDa type II transmembrane protein predominantly localized to the Golgi apparatus. It cycles between the Golgi and endosomes via a pH-dependent mechanism. The protein is involved in maintaining Golgi ribbon structure and may regulate cell surface expression of certain receptors. It is also a known autoantigen in some autoimmune diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GOLIM4 Knockout HEK293 Cell Line | EDJ-KQ1236 | Human | 27333 | Details Get a Quote |
| GOLIM4 Knockout A-549 Cell Line | EDJ-KQ21878 | Human | 27333 | Details Get a Quote |
| GOLIM4 Knockout HCT 116 Cell Line | EDJ-KQ21879 | Human | 27333 | Details Get a Quote |
| GOLIM4 Knockout HeLa Cell Line | EDJ-KQ21880 | Human | 27333 | Details Get a Quote |