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Aliases for GGA3 Gene

Aliases for GGA3 Gene

  • Golgi Associated, Gamma Adaptin Ear Containing, ARF Binding Protein 3 2 3 5
  • Golgi-Localized, Gamma Ear-Containing, ARF-Binding Protein 3 3 4
  • Golgi-Associated, Gamma Adaptin Ear Containing, ARF Binding Protein 3 2
  • ADP-Ribosylation Factor-Binding Protein GGA3 3
  • KIAA0154 4

External Ids for GGA3 Gene

Previous GeneCards Identifiers for GGA3 Gene

  • GC17M073229
  • GC17M076291
  • GC17M073696
  • GC17M073829
  • GC17M070744
  • GC17M068642

Summaries for GGA3 Gene

Entrez Gene Summary for GGA3 Gene

  • This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes 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 have been identified in this gene. [provided by RefSeq, Feb 2010]

GeneCards Summary for GGA3 Gene

GGA3 (Golgi Associated, Gamma Adaptin Ear Containing, ARF Binding Protein 3) is a Protein Coding gene. Among its related pathways are Arf1 pathway and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include ADP-ribosylation factor binding. An important paralog of this gene is GGA1.

UniProtKB/Swiss-Prot for GGA3 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 (AC-LL) motif.

Gene Wiki entry for GGA3 Gene

Additional gene information for GGA3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GGA3 Gene

Genomics for GGA3 Gene

GeneHancer (GH) Regulatory Elements for GGA3 Gene

Promoters and enhancers for GGA3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J075260 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 676.9 +0.6 594 3 HDGF PKNOX1 SMAD1 ARNT ZFP64 SIN3A DMAP1 ZNF2 YY1 SLC30A9 GGA3 MRPS7 NUP85 NT5C UNK SAP30BP NAT9 CDR2L ENSG00000266980 TRIM65
GH17J075031 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 84.3 +227.8 227772 5.8 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 ZNF143 KCTD2 GC17P075034 GC17P075036 GC17M075035 TRR-CCT1-1 TRR-CCT2-1 TRR-TCG3-1 NUP85 UNK NT5C
GH17J075085 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 71.2 +170.9 170897 11.9 CLOCK MLX ZFP64 YBX1 YY1 SLC30A9 ZNF143 ZNF263 MCM3 SP3 SLC16A5 ENSG00000206713 GC17M075090 UNK NUP85 NT5C ENSG00000267342 ENSG00000266980 GGA3 NAT9
GH17J075776 Promoter/Enhancer 2.7 UCNEbase EPDnew Ensembl ENCODE dbSUPER 52.4 -516.1 -516133 4.9 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 H3F3B GC17P075777 GC17M075778 UNK SRSF2 NUP85 NT5C ENSG00000267342 ENSG00000266980 METTL23
GH17J074511 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 75.8 +748.8 748789 3.3 YBX1 FEZF1 ZNF213 ZNF416 ZNF548 SP3 ZFP41 MEF2D ZNF610 GLIS1 NUP85 NAT9 NT5C GGA3 RN7SL573P CD300E SLC16A5 MIF4GD CDR2L HID1-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GGA3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GGA3 gene promoter:
  • c-Ets-1
  • c-Myb
  • AP-4
  • E4BP4
  • E47
  • Lmo2
  • Pax-2
  • Pax-2a

Genomic Locations for GGA3 Gene

Genomic Locations for GGA3 Gene
chr17:75,225,480-75,262,393
(GRCh38/hg38)
Size:
36,914 bases
Orientation:
Minus strand
chr17:73,232,694-73,258,444
(GRCh37/hg19)
Size:
25,751 bases
Orientation:
Minus strand

Genomic View for GGA3 Gene

Genes around GGA3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GGA3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GGA3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GGA3 Gene

Proteins for GGA3 Gene

  • Protein details for GGA3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZ52-GGA3_HUMAN
    Recommended name:
    ADP-ribosylation factor-binding protein GGA3
    Protein Accession:
    Q9NZ52
    Secondary Accessions:
    • B7Z7E2
    • B7Z7M9
    • J3KRN0
    • Q15017
    • Q6IS16
    • Q9UJY3

    Protein attributes for GGA3 Gene

    Size:
    723 amino acids
    Molecular mass:
    78315 Da
    Quaternary structure:
    • Monomer. Interacts with SORT1, SORL1, LRP3, GGA binding partner (GGABP) and P200 (By similarity). Interacts with GGA1 and GGA2. Binds to clathrin and activated ARFs. Binds RABEP1 and RABGEF1. Interacts with the membrane proteins M6PR/CD-MPR, IGF2R/CI-MPR and BACE1 and the accessory proteins SYNRG, EPN4, NECAP1, NECAP2 and AFTPH/aftiphilin. Interacts with TSG101 and UBC.
    SequenceCaution:
    • Sequence=BAA09926.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GGA3 Gene

    Alternative splice isoforms for GGA3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GGA3 Gene

Post-translational modifications for GGA3 Gene

  • Phosphorylated by CK2 and dephosphorylated by PP2A (By similarity). Phosphorylation of GGA3 allows the internal AC-LL motif to bind the VHS domain and to inhibit the recognition of cargo signals.
  • Ubiquitinated.
  • Ubiquitination at Lys264, Lys195, Lys185, Lys183, Lys176, Lys174, Lys165, isoforms=4100, Lys38, and isoforms=215
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GGA3 Gene

Domains & Families for GGA3 Gene

Gene Families for GGA3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NZ52

UniProtKB/Swiss-Prot:

GGA3_HUMAN :
  • The VHS domain functions as a recognition module for sorting signals composed of an acidic cluster followed by two leucines (AC-LL 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 (AC-LL 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 and an autoinhibitory (AC-LL) 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 GGA3: view

Function for GGA3 Gene

Molecular function for GGA3 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 (AC-LL) motif.

Phenotypes From GWAS Catalog for GGA3 Gene

Gene Ontology (GO) - Molecular Function for GGA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10747089
GO:0030306 ADP-ribosylation factor binding IEA,IDA 10749927
genes like me logo Genes that share ontologies with GGA3: view
genes like me logo Genes that share phenotypes with GGA3: view

Animal Model Products

Clone Products

  • Addgene plasmids for GGA3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GGA3 Gene

Localization for GGA3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GGA3 Gene

Golgi apparatus, trans-Golgi network membrane; Peripheral membrane protein. 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 GGA3 gene
Compartment Confidence
golgi apparatus 5
endosome 5
nucleus 2
cytosol 2
lysosome 2

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for GGA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005768 endosome IEA --
GO:0005794 Golgi apparatus IDA,IEA --
GO:0005802 trans-Golgi network IDA,IEA 10749927
GO:0010008 endosome membrane TAS,IEA --
genes like me logo Genes that share ontologies with GGA3: view

Pathways & Interactions for GGA3 Gene

genes like me logo Genes that share pathways with GGA3: view

Pathways by source for GGA3 Gene

1 KEGG pathway for GGA3 Gene
1 Cell Signaling Technology pathway for GGA3 Gene

Gene Ontology (GO) - Biological Process for GGA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport NAS,IEA 10749927
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IEA --
GO:0044267 cellular protein metabolic process TAS --
GO:0045732 positive regulation of protein catabolic process IEA --
genes like me logo Genes that share ontologies with GGA3: view

No data available for SIGNOR curated interactions for GGA3 Gene

Drugs & Compounds for GGA3 Gene

(1) Drugs for GGA3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with GGA3: view

Transcripts for GGA3 Gene

Unigene Clusters for GGA3 Gene

Golgi-associated, gamma adaptin ear containing, ARF binding protein 3:
Representative Sequences:

Clone Products

  • Addgene plasmids for GGA3

Alternative Splicing Database (ASD) splice patterns (SP) for GGA3 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b · 10c ^ 11a · 11b ^ 12a · 12b · 12c ^ 13a · 13b · 13c ^ 14 ^
SP1: - - - - - - - -
SP2: - - - - - - - - -
SP3: - - - - - - - - - -
SP4: -
SP5:
SP6: - - -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

ExUns: 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^ 19a · 19b ^ 20a · 20b
SP1:
SP2:
SP3:
SP4:
SP5: - -
SP6:
SP7:
SP8: - -
SP9: - - -
SP10:
SP11:
SP12:

Relevant External Links for GGA3 Gene

GeneLoc Exon Structure for
GGA3
ECgene alternative splicing isoforms for
GGA3

Expression for GGA3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GGA3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GGA3 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (19.3), Lymph node (8.9), and Fetal Brain (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GGA3 Gene



Protein tissue co-expression partners for GGA3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GGA3 Gene:

GGA3

SOURCE GeneReport for Unigene cluster for GGA3 Gene:

Hs.87726

mRNA Expression by UniProt/SwissProt for GGA3 Gene:

Q9NZ52-GGA3_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for GGA3 Gene

  • Nervous system(4.9)
  • Bone marrow(4.3)
  • Heart(4.2)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with GGA3: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for GGA3 Gene

Orthologs for GGA3 Gene

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

Orthologs for GGA3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GGA3 34 33
  • 99.39 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GGA3 34 33
  • 87.04 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gga3 16 34 33
  • 85.66 (n)
rat
(Rattus norvegicus)
Mammalia Gga3 33
  • 85.49 (n)
oppossum
(Monodelphis domestica)
Mammalia GGA3 34
  • 80 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GGA3 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves GGA3 34 33
  • 72.39 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GGA3 34
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gga3 33
  • 66.04 (n)
Str.14778 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.6656 33
zebrafish
(Danio rerio)
Actinopterygii gga3 34 33
  • 62.35 (n)
OneToMany
GGA3 (2 of 2) 34
  • 54 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Gga 34
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea apt-9 34
  • 21 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GGA2 34
  • 21 (a)
ManyToMany
GGA1 34
  • 19 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 40 (a)
OneToMany
Species where no ortholog for GGA3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GGA3 Gene

ENSEMBL:
Gene Tree for GGA3 (if available)
TreeFam:
Gene Tree for GGA3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GGA3: view image

Paralogs for GGA3 Gene

Paralogs for GGA3 Gene

(6) SIMAP similar genes for GGA3 Gene using alignment to 13 proteins:

  • GGA3_HUMAN
  • B7Z1E9_HUMAN
  • B7Z456_HUMAN
  • G3V1K5_HUMAN
  • J3KRM3_HUMAN
  • J3KS27_HUMAN
  • J3KSG3_HUMAN
  • J3KSS7_HUMAN
  • J3KTR5_HUMAN
  • J3QRK7_HUMAN
  • J3QRP3_HUMAN
  • J3QRS8_HUMAN
  • J3QS87_HUMAN
genes like me logo Genes that share paralogs with GGA3: view

Variants for GGA3 Gene

Sequence variations from dbSNP and Humsavar for GGA3 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs776324450 A breast cancer sample 75,239,434(-) G/A/T coding_sequence_variant, missense_variant
rs115955242 likely-benign, not specified 75,262,530(-) T/C upstream_transcript_variant
rs148590649 likely-benign, not specified 75,261,947(-) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs200027069 likely-benign, not specified 75,262,483(-) T/C upstream_transcript_variant
rs200570062 likely-benign, not specified 75,262,489(-) C/A/G/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for GGA3 Gene

Variant ID Type Subtype PubMed ID
nsv1066312 CNV gain 25217958
nsv510727 CNV deletion 20534489
nsv576027 CNV gain 21841781

Variation tolerance for GGA3 Gene

Residual Variation Intolerance Score: 33.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.99; 60.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GGA3 Gene

Human Gene Mutation Database (HGMD)
GGA3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GGA3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GGA3 Gene

Disorders for GGA3 Gene

Additional Disease Information for GGA3

No disorders were found for GGA3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GGA3 Gene

Publications for GGA3 Gene

  1. Biochemical and structural characterization of the interaction of memapsin 2 (beta-secretase) cytosolic domain with the VHS domain of GGA proteins. (PMID: 14567678) He X … Tang J (Biochemistry 2003) 3 4 22 58
  2. GGAs: a family of ADP ribosylation factor-binding proteins related to adaptors and associated with the Golgi complex. (PMID: 10747089) Dell'Angelica EC … Bonifacino JS (The Journal of cell biology 2000) 2 3 4 58
  3. A family of ADP-ribosylation factor effectors that can alter membrane transport through the trans-Golgi. (PMID: 10749927) Boman AL … Kahn RA (Molecular biology of the cell 2000) 2 3 4 58
  4. Down-regulation of seladin-1 increases BACE1 levels and activity through enhanced GGA3 depletion during apoptosis. (PMID: 19815556) Sarajärvi T … Hiltunen M (The Journal of biological chemistry 2009) 3 22 58
  5. A PACS-1, GGA3 and CK2 complex regulates CI-MPR trafficking. (PMID: 16977309) Scott GK … Thomas G (The EMBO journal 2006) 3 22 58

Products for GGA3 Gene

  • Addgene plasmids for GGA3

Sources for GGA3 Gene