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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GCC1
GRIP and coiled-coil domain containing 1
Chromosome 7 · 7q32.1
NCBI Gene: 79571Ensembl: ENSG00000179562.3HGNC: HGNC:19095UniProt: A4D0Z4
55PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytosolGolgi apparatusprotein bindingsmall GTPase bindingneurodegenerative diseasetype 2 diabetes mellitusduodenal ulcerbone remodeling disease
✦AI Summary

GCC1 encodes GCC88, a trans-Golgi network (TGN) membrane tether and golgin protein essential for Golgi architecture maintenance 1. As a coiled-coil domain protein, GCC88 functions as a vesicle capture protein that mediates endosome-derived vesicle docking at the TGN, with specificity for distinct cargo populations 2. GCC1 regulates the balance between compact Golgi ribbon and dispersed mini-stack structures through actin-dependent mechanisms, requiring interaction with intersectin-1 (ITSN-1), a Cdc42 guanine nucleotide exchange factor 3. The Golgi ribbon organization maintained by GCC88 has broader cellular consequences: ribbon fragmentation leads to loss of mTOR localization at the Golgi, resulting in increased autophagy 1. Beyond structural roles, GCC1 participates in trans-Golgi to endosome transport, facilitating endosomal release of therapeutic oligonucleotides 4. Genetically, GCC1 is a type 2 diabetes susceptibility locus in East Asian populations 5. GCC1 localizes to the trans-Golgi network alongside other trans-Golgi markers like TGN46 6. These findings establish GCC1 as a critical regulator integrating Golgi structural dynamics with cellular signaling and membrane trafficking, with implications for metabolic disease and neurodegeneration.

Sources cited
1
GCC88 (encoded by GCC1) is a membrane tether regulating Golgi ribbon structure and mTOR localization, with fragmentation increasing autophagy
PMID: 29361552
2
GCC88 is a golgin coiled-coil protein that captures endosome-derived vesicles at the TGN with defined cargo specificity
PMID: 33239640
3
GCC88 interacts with intersectin-1 to regulate actin-dependent Golgi ribbon dispersal and architecture balance
PMID: 30540523
4
GCC1 reduction decreases oligonucleotide activity and participates in Golgi-endosome transport for endosomal cargo release
PMID: 34244781
5
GCC1 is identified as a type 2 diabetes susceptibility locus in East Asian populations
PMID: 22158537
6
GCC1 serves as a trans-Golgi network marker for compartmentalization studies
PMID: 40324206
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.37Weak
type 2 diabetes mellitusOpen Targets
0.20Weak
duodenal ulcerOpen Targets
0.15Weak
bone remodeling diseaseOpen Targets
0.11Weak
peptic ulcer diseaseOpen Targets
0.10Weak
placenta praeviaOpen Targets
0.09Suggestive
skin cancerOpen Targets
0.09Suggestive
Age-related cataractOpen Targets
0.05Suggestive
intelligenceOpen Targets
0.05Suggestive
attention deficit hyperactivity disorderOpen Targets
0.04Suggestive
autism spectrum disorderOpen Targets
0.03Suggestive
HypocalcemiaOpen Targets
0.03Suggestive
response to xenobiotic stimulusOpen Targets
0.03Suggestive
SnoringOpen Targets
0.02Suggestive
Abnormality of the skeletal systemOpen Targets
0.02Suggestive
poisoningOpen Targets
0.02Suggestive
uterine fibroidOpen Targets
0.02Suggestive
multinodular goiterOpen Targets
0.02Suggestive
risk-taking behaviourOpen Targets
0.02Suggestive
Miyoshi myopathyOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TSR1Protein interaction100%BYSLProtein interaction100%NGDNProtein interaction100%NAT10Protein interaction100%NOL10Protein interaction100%PWP2Protein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
79%
Brain
54%
Lung
53%
Heart
49%
Ovary
49%
Gene Interaction Network
Click a node to explore
GCC1TSR1BYSLNGDNNAT10NOL10PWP2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q96CN9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.72LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.55 [0.42–0.72]
RankingsWhere GCC1 stands among ~20K protein-coding genes
  • #8,200of 20,598
    Most Researched55
  • #5,605of 17,882
    Most Constrained (LOEUF)0.72
Genes detectedGCC1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Systematic and comprehensive analysis of major localizations of alpha-dystroglycan-specific modifying enzymes.
PMID: 40324206
Glycobiology · 2025
1.00
2
Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians.
PMID: 22158537
Nat Genet · 2011
0.90
3
The Golgi ribbon in mammalian cells negatively regulates autophagy by modulating mTOR activity.
PMID: 29361552
J Cell Sci · 2018
0.80
4
Golgi-58K can re-localize to late endosomes upon cellular uptake of PS-ASOs and facilitates endosomal release of ASOs.
PMID: 34244781
Nucleic Acids Res · 2021
0.70
5
Transcriptional changes common to human cocaine, cannabis and phencyclidine abuse.
PMID: 17205118
PLoS One · 2006
0.60