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.

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 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
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