GGA1 Gene: Golgi-associated, gamma adaptin ear containing, ARF binding protein 1
Key regulator of clathrin-mediated vesicle trafficking from the trans-Golgi network
Gene Information Card
| Symbol | GGA1 |
|---|---|
| Full Name | Golgi-associated, gamma adaptin ear containing, ARF binding protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q31.1 |
| NCBI Gene ID | 26088 ncbi.nlm.nih.gov/gene/26088 |
| Ensembl ID | ENSG00000115053 |
| UniProt ID | Q9UJY5 |
| OMIM ID | 606004 |
| HGNC ID | 17870 |
| Aliases | GGA1, gamma-adaptin related protein 1, VHS domain containing protein 1 |
Description
GGA1 encodes a member of the Golgi-localized, gamma-adaptin ear domain homology, ARF-binding (GGA) protein family. These proteins function as adaptors in clathrin-mediated vesicle trafficking between the trans-Golgi network and endosomes. GGA1 binds ADP-ribosylation factors (ARFs) and clathrin, facilitating cargo sorting and vesicle formation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered GGA1 expression may disrupt vesicle trafficking, affecting cell signaling and proliferation. | COSMIC database reports somatic mutations in multiple cancer types including colorectal, lung, and breast cancer. |
| Neurodegenerative disorders (potential) | Impaired endosomal trafficking linked to GGA1 dysfunction may contribute to protein aggregation. | Limited evidence; inferred from functional studies on vesicle transport. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 10.2 | Medium |
| Testis | 15.8 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | Cervical cancer cell line |
| HEK 293 | 11.7 | Embryonic kidney cells |
| A549 | 9.5 | Lung carcinoma |
| MCF7 | 13.0 | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123G>A (p.Gly375Arg) | missense | 0.02% (gnomAD) | Unknown functional impact |
| c.1546C>T (p.Arg516Trp) | missense | 0.01% (gnomAD) | Predicted damaging by SIFT |
| c.1870_1871insA (p.Thr624Asnfs*5) | frameshift insertion | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants predicted to truncate the protein, impairing clathrin and ARF binding.
Gain of Function (GOF)
No documented gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Clathrin-mediated endocytosis (KEGG: hsa04144)
• Endocytosis (Reactome: R-HSA-199991)
Protein Summary
GGA1 is a 639-amino acid protein containing an N-terminal VHS domain, a GAT domain, and a C-terminal gamma-adaptin ear domain. It localizes to the trans-Golgi network and mediates sorting of transmembrane cargo into clathrin-coated vesicles. The VHS domain recognizes acidic dileucine signals in cargo proteins, while the GAT domain interacts with ARF GTPases and ubiquitin.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GGA1 Knockout HEK293 Cell Line | EDJ-KQ8407 | Human | 26088 | Details Get a Quote |
| GGA1 Knockout A-549 Cell Line | EDJ-KQ34483 | Human | 26088 | Details Get a Quote |
| GGA1 Knockout HCT 116 Cell Line | EDJ-KQ34484 | Human | 26088 | Details Get a Quote |
| GGA1 Knockout HeLa Cell Line | EDJ-KQ34485 | Human | 26088 | Details Get a Quote |
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