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 lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the tran... See more...

Aliases for GGA1 Gene

Aliases for GGA1 Gene

  • Golgi Associated, Gamma Adaptin Ear Containing, ARF Binding Protein 1 2 3 5
  • Golgi-Localized, Gamma Ear-Containing, ARF-Binding Protein 1 3 4
  • ADP-Ribosylation Factor-Binding Protein GGA1 3 4
  • ADP-Ribosylation Factor Binding Protein 1 3
  • Gamma-Adaptin Related Protein 1 3
  • Gamma-Adaptin-Related Protein 1 4

External Ids for GGA1 Gene

Previous GeneCards Identifiers for GGA1 Gene

  • GC22P034619
  • GC22P036247
  • GC22P036329
  • GC22P038004
  • GC22P020971

Summaries for GGA1 Gene

Entrez Gene Summary for GGA1 Gene

  • 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 lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for GGA1 Gene

GGA1 (Golgi Associated, Gamma Adaptin Ear Containing, ARF Binding Protein 1) is a Protein Coding gene. Diseases associated with GGA1 include 3-Methylglutaconic Aciduria, Type Iv and 3-Methylglutaconic Aciduria, Type Vii. Among its related pathways are Vesicle-mediated transport and TBC/RABGAPs. An important paralog of this gene is GGA3.

UniProtKB/Swiss-Prot Summary for GGA1 Gene

  • 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 acidic cluster-dileucine (DXXLL) motif (PubMed:11301005, PubMed:15886016). Mediates export of the GPCR receptor ADRA2B to the cell surface (PubMed:27901063). Required for targeting PKD1:PKD2 complex from the trans-Golgi network to the cilium membrane (By similarity). Regulates retrograde transport of proteins such as phosphorylated form of BACE1 from endosomes to the trans-Golgi network (PubMed:15886016, PubMed:15615712).

Gene Wiki entry for GGA1 Gene

Additional gene information for GGA1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GGA1 Gene

Genomics for GGA1 Gene

GeneHancer (GH) Regulatory Elements for GGA1 Gene

Promoters and enhancers for GGA1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GGA1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GGA1

Top Transcription factor binding sites by QIAGEN in the GGA1 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • Olf-1

Genomic Locations for GGA1 Gene

Genomic Locations for GGA1 Gene
chr22:37,607,235-37,633,564
(GRCh38/hg38)
Size:
26,330 bases
Orientation:
Plus strand
chr22:38,004,481-38,029,571
(GRCh37/hg19)
Size:
25,091 bases
Orientation:
Plus strand

Genomic View for GGA1 Gene

Genes around GGA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GGA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GGA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GGA1 Gene

Proteins for GGA1 Gene

  • Protein details for GGA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UJY5-GGA1_HUMAN
    Recommended name:
    ADP-ribosylation factor-binding protein GGA1
    Protein Accession:
    Q9UJY5
    Secondary Accessions:
    • A8K3D3
    • B0QYR7
    • Q5R3N1
    • Q5TG07
    • Q6IC75
    • Q86YA9
    • Q8NCS6
    • Q9BW94
    • Q9UG00
    • Q9UGW0
    • Q9UGW1

    Protein attributes for GGA1 Gene

    Size:
    639 amino acids
    Molecular mass:
    70384 Da
    Quaternary structure:
    • Monomer (Probable). Interacts with GGA2 and GGA3 (PubMed:14638859). Binds to clathrin and activated ARFs, including ARF1, ARF5 and ARF6 (PubMed:11301005, PubMed:11950392, PubMed:12679809, PubMed:15143060, PubMed:22522702). Interacts with RABEP1 and RABGEF1 (PubMed:12505986, PubMed:15143060). Interacts with the type-I membrane proteins LRP3, M6PR/CD-MPR and IGF2R/CI-MPR (PubMed:11390366, PubMed:11387475, PubMed:12060753). Interacts (via N-terminal VHS domain) with SORL1/sorLA and SORT1 (via C-terminal cytosolic domain) (PubMed:11821067, PubMed:17855360, PubMed:20015111). Interacts with EPN4 (PubMed:12538641). Binds CCDC91, P200 and SYNRG (PubMed:12858163, PubMed:12808037, PubMed:10814529). Interacts with NECAP1, NECAP2 and AFTPH/aftiphilin (PubMed:14665628). Interacts with TSG101 and UBC (PubMed:14660606, PubMed:15143060). Interacts with RNF11 (PubMed:20676133). Interacts (via VHS domain) with BACE1 (via DXXLL motif); the interaction highly increases when BACE1 is phosphorylated at 'Ser-498' (PubMed:14567678, PubMed:15886016). Interacts with CNST (By similarity). Interacts with ADRA2B (PubMed:27901063). Interacts with ARL3; the interaction recruits, in collaboration with RABEP1, PKD1:PKD2 complex to trans-Golgi network and is required for ciliary targeting (By similarity).

    Three dimensional structures from OCA and Proteopedia for GGA1 Gene

    Alternative splice isoforms for GGA1 Gene

neXtProt entry for GGA1 Gene

Post-translational modifications for GGA1 Gene

  • Phosphorylated by CK2 and dephosphorylated by PP2A. Phosphorylation of GGA1 allows the internal DXXLL motif to bind the VHS domain and to inhibit the recognition of cargo signals.
  • Ubiquitinated.
  • Ubiquitination at Lys23, Lys101, Lys165, Lys198, and Lys206
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GGA1 Gene

Domains & Families for GGA1 Gene

Gene Families for GGA1 Gene

Protein Domains for GGA1 Gene

Blocks:
  • Alpha/gamma adaptin, C-terminal
  • Gamma-adaptin, C-terminal
  • VHS
  • GAT domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GGA1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ16562 fis, clone SYNOV4005256, highly similar to ADP-ribosylation factor-binding protein GGA1 (B0QYR7_HUMAN)
  • Golgi-localized, gamma ear-containing, ARF-binding protein 1 (GGA1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UJY5

UniProtKB/Swiss-Prot:

GGA1_HUMAN :
  • The VHS domain functions as a recognition module for sorting signals composed of an acidic cluster followed by two leucines (DXXLL motif).
  • Belongs to the GGA protein family.
Domain:
  • The VHS domain functions as a recognition module for sorting signals composed of an acidic cluster followed by two leucines (DXXLL motif).
  • The GAT domain is responsible for interaction with ARF-GTP, UBC and RABEP1. Required for recruitment to the TGN it prevents ARF-GTP hydrolysis.
  • The unstructured hinge region contains clathrin-binding but no autoinhibitory (DXXLL) motifs.
  • The GAE domain binds accessory proteins regulating GGAs function.
Family:
  • Belongs to the GGA protein family.
genes like me logo Genes that share domains with GGA1: view

Function for GGA1 Gene

Molecular function for GGA1 Gene

UniProtKB/Swiss-Prot 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 acidic cluster-dileucine (DXXLL) motif (PubMed:11301005, PubMed:15886016). Mediates export of the GPCR receptor ADRA2B to the cell surface (PubMed:27901063). Required for targeting PKD1:PKD2 complex from the trans-Golgi network to the cilium membrane (By similarity). Regulates retrograde transport of proteins such as phosphorylated form of BACE1 from endosomes to the trans-Golgi network (PubMed:15886016, PubMed:15615712).

Phenotypes From GWAS Catalog for GGA1 Gene

Gene Ontology (GO) - Molecular Function for GGA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 11387475
GO:0030306 ADP-ribosylation factor binding IPI 12668765
GO:0046982 protein heterodimerization activity IMP 12668765
genes like me logo Genes that share ontologies with GGA1: view
genes like me logo Genes that share phenotypes with GGA1: view

Animal Models for GGA1 Gene

MGI Knock Outs for GGA1:
  • Gga1 Gga1<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for GGA1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GGA1 Gene

Localization for GGA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GGA1 Gene

Golgi apparatus, trans-Golgi network membrane; Peripheral membrane protein. Endosome membrane; Peripheral membrane protein. Early endosome membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GGA1 gene
Compartment Confidence
nucleus 5
endosome 5
cytosol 4
golgi apparatus 4
plasma membrane 2
lysosome 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Vesicles (3)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GGA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005623 cell IEA --
GO:0005654 nucleoplasm IDA --
GO:0005768 endosome IEA --
GO:0005769 early endosome IDA 15886016
genes like me logo Genes that share ontologies with GGA1: view

Pathways & Interactions for GGA1 Gene

genes like me logo Genes that share pathways with GGA1: view

Pathways by source for GGA1 Gene

Gene Ontology (GO) - Biological Process for GGA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IEA,TAS 20211637
GO:0006893 Golgi to plasma membrane transport IEA --
GO:0008104 protein localization IDA 15886016
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IEA --
genes like me logo Genes that share ontologies with GGA1: view

No data available for SIGNOR curated interactions for GGA1 Gene

Drugs & Compounds for GGA1 Gene

(3) Drugs for GGA1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0

(1) Additional Compounds for GGA1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GGA1: view

Transcripts for GGA1 Gene

mRNA/cDNA for GGA1 Gene

6 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
23 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for GGA1

Alternative Splicing Database (ASD) splice patterns (SP) for GGA1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c · 7d · 7e ^ 8 ^ 9a · 9b · 9c · 9d · 9e · 9f · 9g ^ 10a · 10b ^
SP1: - - - - - - - - - - - -
SP2: - - - - - - - - - - - - - - - - - - -
SP3: - - - - - - - - - - - - - - - - - -
SP4: - - - - - - - - - - - - - - - - - - -
SP5: - - - - - - - - - - - - - - -
SP6: - - - - - - - - - - - - -
SP7: - - - - - - - - - - -
SP8: - - - - -
SP9: - - - - - - - - - - - -
SP10:
SP11:
SP12:
SP13:
SP14: - - - - - - - - - - - - - - - - - - -
SP15: - - - - - - - - - -
SP16: - - - - -
SP17: - - - - - - - - - - - - - - - - - - - - -
SP18: - - - - - - - - - - -
SP19: - - - - - - - - - - - - - -
SP20: - - - - - - - - -
SP21: - - -
SP22:
SP23:
SP24: - - - - - - - - - - - - - -
SP25: - - - - - - - - - - -
SP26: - - - - - - - -
SP27: - - - - - - - - -
SP28: - - - - -
SP29:
SP30:
SP31:

ExUns: 11 ^ 12a · 12b · 12c · 12d · 12e · 12f · 12g ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b · 18c ^ 19a · 19b · 19c ^ 20a · 20b ^ 21a · 21b · 21c ^
SP1: - - - - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: - - - - - - - - -
SP5: -
SP6: -
SP7: -
SP8: - - - - - - - - - - - - - - - - - - - - - -
SP9: -
SP10: - -
SP11: - -
SP12: - - - -
SP13:
SP14:
SP15: -
SP16: -
SP17: - - - - - - - - - - - - - - - - - - - - - - - -
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:
SP24:
SP25:
SP26:
SP27:
SP28:
SP29:
SP30:
SP31:

ExUns: 22a · 22b ^ 23a · 23b · 23c · 23d ^ 24a · 24b ^ 25a · 25b ^ 26a · 26b
SP1: -
SP2: -
SP3: -
SP4: -
SP5:
SP6:
SP7:
SP8: -
SP9:
SP10:
SP11:
SP12:
SP13: - -
SP14:
SP15:
SP16:
SP17: -
SP18:
SP19:
SP20:
SP21:
SP22: -
SP23:
SP24:
SP25:
SP26:
SP27:
SP28:
SP29:
SP30:
SP31:

Relevant External Links for GGA1 Gene

GeneLoc Exon Structure for
GGA1

Expression for GGA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GGA1 Gene

mRNA differential expression in normal tissues according to GTEx for GGA1 Gene

This gene is overexpressed in Testis (x4.7).

Protein differential expression in normal tissues from HIPED for GGA1 Gene

This gene is overexpressed in Brain (11.5) and Lymph node (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GGA1 Gene



Protein tissue co-expression partners for GGA1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GGA1

SOURCE GeneReport for Unigene cluster for GGA1 Gene:

Hs.499158

mRNA Expression by UniProt/SwissProt for GGA1 Gene:

Q9UJY5-GGA1_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for GGA1 Gene

  • Nervous system(4.9)
  • Heart(4.2)
  • Liver(4.2)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with GGA1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for GGA1 Gene

Orthologs for GGA1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GGA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GGA1 30
  • 99.15 (n)
cow
(Bos Taurus)
Mammalia GGA1 31
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GGA1 31 30
  • 89.57 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gga1 17 31 30
  • 88.45 (n)
rat
(Rattus norvegicus)
Mammalia Gga1 30
  • 87.66 (n)
oppossum
(Monodelphis domestica)
Mammalia GGA1 31
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GGA1 31
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100857525 30
  • 76.8 (n)
-- 31
  • 75 (a)
OneToMany
-- 31
  • 72 (a)
OneToMany
-- 31
  • 72 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia GGA1 31
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gga1 30
  • 65.81 (n)
zebrafish
(Danio rerio)
Actinopterygii gga1 31 30
  • 63.93 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011568 30
  • 50.75 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3002 32
  • 26 (a)
Gga 31
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea apt-9 31
  • 22 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GGA2 31
  • 21 (a)
ManyToMany
GGA1 31
  • 17 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 39 (a)
OneToMany
Species where no ortholog for GGA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Ar