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Gene Gene information from NCBI Gene database.
Entrez ID 26088
Gene name Golgi associated, gamma adaptin ear containing, ARF binding protein 1
Gene symbol GGA1
Synonyms (NCBI Gene)
-
Chromosome 22
Chromosome location 22q13.1
Summary This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) protein family. Members of this family are ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysoso
miRNA miRNA information provided by mirtarbase database.
66 Show/Hide all (66)
miRTarBase ID miRNA Experiments Reference
MIRT044423 hsa-miR-320a CLASH 23622248
MIRT723074 hsa-miR-3127-3p HITS-CLIP 19536157
MIRT723073 hsa-miR-6756-3p HITS-CLIP 19536157
MIRT723072 hsa-miR-3183 HITS-CLIP 19536157
MIRT723071 hsa-miR-4723-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39 Show/Hide all (39)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 11387475, 11390366, 11821067, 12505986, 12767220, 14637142, 14638859, 15143060, 15231748, 15457209, 15466887, 15886016, 17855360, 18418388, 20676133, 22522702, 25416956, 26053850, 27901063, 28514442, 30679749, 32296183, 32814053, 33961781, 35156780, 36012204, 37219487, 39009827
GO:0005654 Component Nucleoplasm IDA
GO:0005768 Component Endosome IEA
GO:0005769 Component Early endosome IDA 15886016
GO:0005794 Component Golgi apparatus IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606004 17842 ENSG00000100083
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UJY5
Protein name ADP-ribosylation factor-binding protein GGA1 (Gamma-adaptin-related protein 1) (Golgi-localized, gamma ear-containing, ARF-binding protein 1)
Protein function Plays a role in protein sorting and trafficking between the trans-Golgi network (TGN) and endosomes. Mediates the ARF-dependent recruitment of clathrin to the TGN and binds ubiquitinated proteins and membrane cargo molecules with a cytosolic aci
PDB 1J2J , 1JWF , 1JWG , 1NA8 , 1NAF , 1NWM , 1O3X , 1OM9 , 1OXZ , 1PY1 , 1UJJ , 1UJK , 1X79 , 2DWX , 2DWY , 3G2S , 3G2T , 3G2U , 3G2V , 3G2W
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00790 VHS 5 → 143 VHS domain Domain
PF02883 Alpha_adaptinC2 513 → 631 Adaptin C-terminal domain Domain
PF03127 GAT 222 → 300 GAT domain Domain
PF18308 GGA_N-GAT 169 → 207 GGA N-GAT domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed.
Sequence
MEPAMEPETLEARINRATNPLNKELDWASINGFCEQLNEDFEGPPLATRLLAHKIQSPQE
WEAIQALTVLETCMKSCGKRFHDEVGKFRFLNELIKVVSPKYLGSRTSEKVKNKILELLY
SWTVGLPEEVKIAEAYQMLKKQG
IVKSDPKLPDDTTFPLPPPRPKNVIFEDEEKSKMLAR
LLKSSHPEDLRAANKLIKEMVQEDQKR
MEKISKRVNAIEEVNNNVKLLTEMVMSHSQGGA
AAGSSEDLMKELYQRCERMRPTLFRLASDTEDNDEALAEILQANDNLTQVINLYKQLVRG

EEVNGDATAGSIPGSTSALLDLSGLDLPPAGTTYPAMPTRPGEQASPEQPSASVSLLDDE
LMSLGLSDPTPPSGPSLDGTGWNSFQSSDATEPPAPALAQAPSMESRPPAQTSLPASSGL
DDLDLLGKTLLQQSLPPESQQVRWEKQQPTPRLTLRDLQNKSSSCSSPSSSATSLLHTVS
PEPPRPPQQPVPTELSLASITVPLESIKPSNILPVTVYDQHGFRILFHFARDPLPGRSDV
LVVVVSMLSTAPQPIRNIVFQSAVPKVMKVKLQPPSGTELPAFNPIVHPSAITQVLLLAN
PQKEKVRLRYKLTFTMGDQTYNEMGDVDQFP
PPETWGSL
Sequence length 639
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Lysosome TBC/RABGAPs
  Amyloid fiber formation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
Gastric cancer Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Thymoma Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 34560403 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer UNIPROT_DG
★★★★★
★☆☆☆☆
Found in Text Mining only