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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GGA1
golgi associated, gamma adaptin ear containing, ARF binding protein 1
Chromosome 22 · 22q13.1
NCBI Gene: 26088Ensembl: ENSG00000100083.21HGNC: HGNC:17842UniProt: Q9UJY5
137PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingsmall GTPase bindingintracellular protein transportintracellular protein localizationazoospermiapartial chromosome Y deletionspermatogenic failure 71spermatogenic failure 57
✦AI Summary

GGA1 (Golgi-localized, γ-adaptin ear-containing, ADP ribosylation factor-binding protein 1) is a monomeric clathrin adaptor protein that mediates protein sorting and trafficking between the trans-Golgi network (TGN) and endosomes 1. The protein recognizes cargo molecules through acidic cluster-dileucine (DXXLL) motifs in their cytoplasmic domains and facilitates ARF-dependent clathrin recruitment to the TGN 1. GGA1 forms dynamic, pleiomorphic transport carriers with clathrin that bud from the TGN and translocate through the cytoplasm for distances up to 10 μm 2. The protein plays crucial roles in trafficking specific cargo proteins, including the endosomal Na+/H+ exchanger NHE6, where GGA1 interaction governs proper endosomal localization 3. In disease contexts, GGA1 modulates amyloid-β peptide generation by affecting BACE1 trafficking, with overexpression reducing Aβ secretion 4. Additionally, GGA1 supports EGFR stability and cell proliferation, contrasting with GGA2 and GGA3 which promote EGFR degradation 5. Under stress conditions, GGA1 protects spermatogenesis from environmental toxicant damage, with knockout mice showing increased vulnerability to BPA-induced fertility impairment 6. A naturally occurring splice variant (GGA1t) acts as a dominant-negative regulator by forming dimers with full-length GGA1 while lacking cargo-binding capability 7.

Sources cited
1
GGA1 is a monomeric clathrin adaptor protein that mediates TGN-endosome trafficking and recognizes DXXLL motifs
PMID: 31659673
2
GGA1 forms dynamic, pleiomorphic transport carriers with clathrin that translocate through cytoplasm
PMID: 12686608
3
GGA1 interacts with NHE6 and governs its proper endosomal localization
PMID: 39002678
4
GGA1 modulates amyloid-β peptide generation by affecting BACE1 trafficking
PMID: 17151287
5
GGA1 supports EGFR stability and cell proliferation, contrasting with GGA2/3 effects
PMID: 29358589
6
GGA1 protects spermatogenesis from environmental toxicant damage like BPA
PMID: 37551344
7
GGA1 splice variant (GGA1t) acts as dominant-negative regulator through dimerization
PMID: 31316103
Disease Associationsⓘ20
azoospermiaOpen Targets
0.08Suggestive
partial chromosome Y deletionOpen Targets
0.06Suggestive
spermatogenic failure 71Open Targets
0.05Suggestive
spermatogenic failure 57Open Targets
0.05Suggestive
spermatogenic failure 50Open Targets
0.05Suggestive
crush injuryOpen Targets
0.05Suggestive
spermatogenic failure, X-linked, 2Open Targets
0.05Suggestive
isochromosomy YpOpen Targets
0.05Suggestive
spermatogenic failure 63Open Targets
0.05Suggestive
46,XY complete gonadal dysgenesisOpen Targets
0.05Suggestive
spermatogenic failure 25Open Targets
0.05Suggestive
Testicular regression syndromeOpen Targets
0.05Suggestive
MODYOpen Targets
0.05Suggestive
hypogonadotropic hypogonadism 11 with or without anosmiaOpen Targets
0.05Suggestive
congenital bilateral absence of vas deferensOpen Targets
0.05Suggestive
isochromosomy YqOpen Targets
0.05Suggestive
spinocerebellar ataxia type 32Open Targets
0.05Suggestive
partial androgen insensitivity syndromeOpen Targets
0.05Suggestive
persistent Mullerian duct syndromeOpen Targets
0.04Suggestive
Persistent Müllerian duct syndromeOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RABGEF1Protein interaction100%CCDC91Protein interaction99%SYNRGProtein interaction99%BACE1Protein interaction99%IGF2RProtein interaction96%M6PRProtein interaction96%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
95%
Liver
89%
Lung
82%
Heart
49%
Brain
30%
Gene Interaction Network
Click a node to explore
GGA1RABGEF1CCDC91SYNRGBACE1IGF2RM6PR
PROTEIN STRUCTURE
Preparing viewer…
PDB1J2J · 1.60 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.47Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.30 [0.20–0.47]
RankingsWhere GGA1 stands among ~20K protein-coding genes
  • #3,373of 20,598
    Most Researched137 · top quartile
  • #2,675of 17,882
    Most Constrained (LOEUF)0.47 · top quartile
Genes detectedGGA1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Emerging roles of Golgi/endosome-localizing monomeric clathrin adaptors GGAs.
PMID: 31659673
Anat Sci Int · 2020
1.00
2
GGA2 interacts with EGFR cytoplasmic domain to stabilize the receptor expression and promote cell growth.
PMID: 29358589
Sci Rep · 2018
0.90
3
GGA1 is expressed in the human brain and affects the generation of amyloid beta-peptide.
PMID: 17151287
J Neurosci · 2006
0.80
4
GGA1 interacts with the endosomal Na+/H+ exchanger NHE6 governing localization to the endosome compartment.
PMID: 39002678
J Biol Chem · 2024
0.70
5
GGA1 participates in spermatogenesis in mice under stress.
PMID: 37551344
PeerJ · 2023
0.60