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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 networ... See more...
Aliases for GGA3 Gene
Aliases for GGA3 Gene
External Ids for GGA3 Gene
- HGNC: 17079
- NCBI Entrez Gene: 23163
- Ensembl: ENSG00000125447
- OMIM®: 606006
- UniProtKB/Swiss-Prot: Q9NZ52
Previous GeneCards Identifiers for GGA3 Gene
- GC17M073229
- GC17M076291
- GC17M073696
- GC17M073829
- GC17M070744
- GC17M068642
- GC17M075236
Summaries 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. Diseases associated with GGA3 include Nephrotic Syndrome, Type 17 and 3-Methylglutaconic Aciduria, Type Iv. Among its related pathways are Signaling by GPCR and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include ADP-ribosylation factor binding. An important paralog of this gene is GGA1.
UniProtKB/Swiss-Prot Summary 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 (DXXLL) motif (PubMed:11301005). Mediates export of the GPCR receptor ADRA2B to the cell surface (PubMed:26811329). nvolved in BACE1 transport and sorting as well as regulation of BACE1 protein levels (PubMed:17553422, PubMed:15615712, PubMed:20484053). Regulates retrograde transport of BACE1 from endosomes to the trans-Golgi network via interaction through the VHS motif and dependent of BACE1 phosphorylation (PubMed:15615712). Modulates BACE1 protein levels independently of the interaction between VHS domain and DXXLL motif through recognition of ubiquitination (PubMed:20484053). Key player in a novel DXXLL-mediated endosomal sorting machinery to the recycling pathway that targets NTRK1 to the plasma membrane (By similarity).
Additional gene information for GGA3 Gene
- HGNC (17079)
- NCBI Entrez Gene (23163)
- Ensembl (ENSG00000125447)
- OMIM® (606006)
- UniProtKB/Swiss-Prot (Q9NZ52)
- Open Targets Platform(ENSG00000125447)
- Search for GGA3 at DataMed
- Search for GGA3 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GGA3 Gene
Genomics for GGA3 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for GGA3 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 GGA3 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GGA3
- Top Transcription factor binding sites by QIAGEN in the GGA3 gene promoter:
-
- AP-4
- c-Ets-1
- c-Myb
- E47
- E4BP4
- Lmo2
- Pax-2
- Pax-2a
Genomic Locations for GGA3 Gene
Latest Assembly
- chr17:75,225,464-75,262,363
- (GRCh38/hg38)
- Size:
- 36,900 bases
- Orientation:
- Minus strand
Previous Assembly
- chr17:73,232,694-73,258,444
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 25,751 bases
- Orientation:
- Minus strand
- chr17:73,232,694-73,258,444
- (GRCh37/hg19 by Ensembl)
- 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:
-
- 17q25.1 by HGNC
- 17q25.1 by Entrez Gene
- 17q25.1 by Ensembl
GGA3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- B7Z7E2
- B7Z7M9
- J3KRN0
- Q15017
- Q6IS16
- Q9UJY3
Protein attributes for GGA3 Gene
- Size:
- 723 amino acids
- Molecular mass:
- 78315 Da
- Quaternary structure:
-
- Monomer (Probable). Interacts with GGA1 and GGA2 (PubMed:14638859). Binds to clathrin and activated ARFs, such as ARF1, ARF5 and ARF6 (PubMed:11301005, PubMed:11950392). Binds RABEP1 and RABGEF1 (PubMed:12505986, PubMed:15143060). Interacts with the membrane proteins M6PR/CD-MPR and IGF2R/CI-MPR and the accessory proteins SYNRG, EPN4, NECAP1, NECAP2 and AFTPH/aftiphilin (PubMed:10814529, PubMed:11387475, PubMed:12060753, PubMed:12213833, PubMed:14665628). Interacts with TSG101 and UBC (PubMed:14660606, PubMed:15039775). Interacts with ADRA2B (PubMed:26811329). Interacts with NTRK1; the interaction is independent of NTRK1 activation and ubiquitination (PubMed:26446845). Interacts (via VHS domain) with BACE1 (via DXXLL motif) (PubMed:14567678).
- SequenceCaution:
-
- Sequence=BAA09926.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for GGA3 Gene
Protein Expression for GGA3 Gene
Post-translational modifications for GGA3 Gene
- Phosphorylated by CK2 and dephosphorylated by PP2A (By similarity). Phosphorylation of GGA3 allows the internal DXXLL motif to bind the VHS domain and to inhibit the recognition of cargo signals.
- Ubiquitinated.
- Proteolytically cleaved during apoptosis by CASP3.
-
Ubiquitination at Lys15, Lys100, Lys38, Lys165, Lys174, Lys176, Lys183, Lys185, Lys195, and Lys264
- NX_Q9NZ52 (NX_Q9NZ52-1)
- Modification sites at PhosphoSitePlus
Other Protein References for GGA3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences GGA3 Antibody (LS-B373) and GGA3 Antibody (LS-B2853)
-
Custom Antibody ServicesOriGene Antibodies for GGA3
- Novus Biologicals Antibodies for GGA3
-
Abcam antibodies for GGA3
- Invitrogen Antibodies for GGA3 (AFLGC-GGA3)
-
Santa Cruz Biotechnology (SCBT) Antibodies for GGA3
- Sino Biological Antibodies for GGA3
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for GGA3
- Origene Custom Protein Services for GGA3
- antibodies-online: Show 5 available GGA3 Proteins ranked by validation data
- Compare Top GGA3 Proteins
-
Quality Products:
-
Abcam proteins for GGA3
Assay products for research
- antibodies-online: Search results for available GGA3 related products ranked by validation data
-
Abcam assays for GGA3
No data available for DME Specific Peptides for GGA3 Gene
Domains & Families for GGA3 Gene
Gene Families for GGA3 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for GGA3 Gene
Suggested Antigen Peptide Sequences for GGA3 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ59841, highly similar to ADP-ribosylation factor-binding protein GGA3 (B7Z1E9_HUMAN)
- cDNA FLJ59569, highly similar to ADP-ribosylation factor-binding protein GGA3 (B7Z456_HUMAN)
- Golgi-localized, gamma ear-containing, ARF-binding protein 3 (GGA3_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9NZ52UniProtKB/Swiss-Prot:
GGA3_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 and an autoinhibitory (DXXLL) motifs.
- The GAE domain binds accessory proteins regulating GGAs function.
- Family:
-
- Belongs to the GGA protein family.
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 (DXXLL) motif (PubMed:11301005). Mediates export of the GPCR receptor ADRA2B to the cell surface (PubMed:26811329). nvolved in BACE1 transport and sorting as well as regulation of BACE1 protein levels (PubMed:17553422, PubMed:15615712, PubMed:20484053). Regulates retrograde transport of BACE1 from endosomes to the trans-Golgi network via interaction through the VHS motif and dependent of BACE1 phosphorylation (PubMed:15615712). Modulates BACE1 protein levels independently of the interaction between VHS domain and DXXLL motif through recognition of ubiquitination (PubMed:20484053). Key player in a novel DXXLL-mediated endosomal sorting machinery to the recycling pathway that targets NTRK1 to the plasma membrane (By similarity).
Phenotypes From GWAS Catalog for GGA3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 11387475 |
| GO:0030306 | ADP-ribosylation factor binding | IEA | -- |
| GO:0031267 | small GTPase binding | IDA | 10749927 |
| GO:0043130 | ubiquitin binding | IDA | 17116753 |
| GO:0044877 | protein-containing complex binding | IDA | 17116753 |
Phenotypes for GGA3 Gene
- MGI mutant phenotypes for GGA3:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for GGA3:
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for GGA3 - Starting at $85 >
- * GGA3 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for GGA3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GGA3
-
Santa Cruz Biotechnology (SCBT) CRISPR for GGA3
miRNA for GGA3 Gene
- miRTarBase miRNAs that target GGA3
-
- mmu-miR-324-3p (MIRT010755)
- mmu-let-7b-5p (MIRT012021)
- hsa-miR-196a-5p (MIRT026056)
- hsa-miR-103a-3p (MIRT027133)
- hsa-miR-26b-5p (MIRT029653)
- hsa-miR-744-5p (MIRT037465)
- hsa-miR-423-5p (MIRT038104)
- hsa-miR-615-3p (MIRT040417)
- hsa-miR-23a-3p (MIRT050447)
- hsa-miR-222-5p (MIRT499484)
- hsa-miR-6735-3p (MIRT499485)
- hsa-miR-214-5p (MIRT499486)
- hsa-miR-98-5p (MIRT499487)
- hsa-miR-4458 (MIRT499488)
- hsa-miR-4500 (MIRT499489)
- hsa-let-7i-5p (MIRT499490)
- hsa-let-7g-5p (MIRT499491)
- hsa-let-7f-5p (MIRT499492)
- hsa-let-7e-5p (MIRT499493)
- hsa-let-7d-5p (MIRT499494)
- hsa-let-7c-5p (MIRT499495)
- hsa-let-7b-5p (MIRT499496)
- hsa-let-7a-5p (MIRT499497)
- hsa-miR-3129-5p (MIRT499498)
- hsa-miR-199b-3p (MIRT499499)
- hsa-miR-199a-3p (MIRT499500)
- hsa-miR-936 (MIRT499501)
- hsa-miR-196b-5p (MIRT499502)
- hsa-miR-1265 (MIRT499503)
- hsa-miR-2392 (MIRT499504)
- hsa-miR-451b (MIRT499505)
- hsa-miR-302c-5p (MIRT551071)
- hsa-miR-3691-3p (MIRT551072)
- hsa-miR-3143 (MIRT551073)
- hsa-miR-522-3p (MIRT551074)
- hsa-miR-224-3p (MIRT551075)
- hsa-miR-195-5p (MIRT727582)
- hsa-miR-16-5p (MIRT727583)
- hsa-miR-15b-5p (MIRT727584)
- hsa-miR-15a-5p (MIRT727585)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GGA3
- Browse OriGene Inhibitory RNA Products For GGA3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GGA3
Clone products for research
- Applied Biological Materials (abm): Clones for GGA3 - Starting at $45 >
- * GGA3 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG227071
- MR227071
- MR227071L3
- MR227071L4
- MR230764
- RC209737
- RC209737L3
- RC209737L4
- RC213361
- RC213361L1
- RC213361L2
- RC213361L3
- RC213361L4
- RC230320
- RC230320L3
- RC230320L4
- RC230394
- RC230394L3
- RC230394L4
- RC239050
- RC239205
- RG209737
- RG213361
- RG230320
- RG230394
- RR200582
- RR200582L3
- RR200582L4
- MR227071L3V
- MR227071L4V
- RC209737L3V
- RC209737L4V
- RC213361L1V
- RC213361L2V
- RC213361L3V
- RC213361L4V
- RC230320L3V
- RC230320L4V
- RC230394L3V
- RC230394L4V
- RR200582L3V
- RR200582L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Addgene plasmids for GGA3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GGA3
Cell Lines for research
-
Horizon Cell Lines 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. Early endosome membrane. Peripheral membrane protein. Recycling endosome membrane. Peripheral membrane protein.
| Compartment | Confidence |
|---|---|
| golgi apparatus | 5 |
| endosome | 4 |
| lysosome | 4 |
| nucleus | 3 |
| cytosol | 3 |
| plasma membrane | 2 |
| cytoskeleton | 2 |
| extracellular | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
- Golgi apparatus (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005764 | lysosome | IDA | 17116753 |
| GO:0005768 | endosome | IEA | -- |
| GO:0005769 | early endosome | IEA | -- |
| GO:0005794 | Golgi apparatus | IEA,IDA | -- |
| GO:0005802 | trans-Golgi network | IEA,IDA | 10749927 |
Pathways & Interactions for GGA3 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Vesicle-mediated transport | ||
| 2 | MET promotes cell motility |
.45
|
|
| 3 | Neuroscience | ||
| 4 | Lysosome |
-
|
|
| 5 | Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 | ||
Pathways by source for GGA3 Gene
1 BioSystems pathway for GGA3 Gene
8 Reactome pathways for GGA3 Gene
1 KEGG pathway for GGA3 Gene
1 Cell Signaling Technology pathway for GGA3 Gene
Interacting Proteins for GGA3 Gene
Selected Interacting proteins:
Q9NZ52-GGA3_HUMAN
ENSP00000438085
for GGA3 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for GGA3
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006622 | protein targeting to lysosome | IPI | 17116753 |
| GO:0006886 | intracellular protein transport | IEA,NAS | 10749927 |
| GO:0015031 | protein transport | IEA | -- |
| GO:0016192 | vesicle-mediated transport | IEA | -- |
| GO:0031647 | regulation of protein stability | IDA | 17553422 |
No data available for SIGNOR curated interactions for GGA3 Gene
Drugs & Compounds for GGA3 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Guanosine triphosphate | Experimental | Pharma | 0 |
Transcripts for GGA3 Gene
mRNA/cDNA for GGA3 Gene
- 6 REFSEQ mRNAs :
- 21 NCBI additional mRNA sequence :
- 24 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000537686 3871 nts (view in UCSC)
- ENST00000538886 3766 nts (view in UCSC)
- ENST00000577435 547 nts (view in UCSC)
- ENST00000578208 478 nts (view in UCSC)
- ENST00000578348 2251 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for GGA3 - Starting at $85 >
- * GGA3 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for GGA3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GGA3
-
Santa Cruz Biotechnology (SCBT) CRISPR for GGA3
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GGA3
- Browse OriGene Inhibitory RNA Products For GGA3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GGA3
Clone products for research
- Applied Biological Materials (abm): Clones for GGA3 - Starting at $45 >
- * GGA3 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG227071
- MR227071
- MR227071L3
- MR227071L4
- MR230764
- RC209737
- RC209737L3
- RC209737L4
- RC213361
- RC213361L1
- RC213361L2
- RC213361L3
- RC213361L4
- RC230320
- RC230320L3
- RC230320L4
- RC230394
- RC230394L3
- RC230394L4
- RC239050
- RC239205
- RG209737
- RG213361
- RG230320
- RG230394
- RR200582
- RR200582L3
- RR200582L4
- MR227071L3V
- MR227071L4V
- RC209737L3V
- RC209737L4V
- RC213361L1V
- RC213361L2V
- RC213361L3V
- RC213361L4V
- RC230320L3V
- RC230320L4V
- RC230394L3V
- RC230394L4V
- RR200582L3V
- RR200582L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Addgene plasmids for GGA3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GGA3
| 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
Expression for GGA3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GGA3
SOURCE GeneReport for Unigene cluster for GGA3 Gene:
Hs.87726mRNA 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)
- Heart(4.4)
- Liver(4.4)
- Bone marrow(4.3)
- Skin(2.3)
- Kidney(2.2)
- Muscle(2.1)
Primer products for research
-
OriGene qPCR primer pairs for GGA3
Gene Expression Assays for research
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | GGA3 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | GGA3 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Gga3 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Gga3 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | GGA3 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | GGA3 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | GGA3 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | GGA3 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gga3 30 |
|
||
| Str.14778 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.6656 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | gga3 30 31 |
|
OneToMany | |
| GGA3 (2 of 2) 31 |
|
OneToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Gga 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | apt-9 31 |
|
OneToMany | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GGA2 31 |
|
ManyToMany | |
| GGA1 31 |
|
ManyToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for GGA3 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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
Variants for GGA3 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GGA3 Gene
| SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1321552081 | Likely Pathogenic: Nephrotic syndrome, type 17 | 75,234,762(-) |
G/C NM_024844.5(NUP85):c.1741G>C (p.Ala581Pro) |
MISSENSE | |
| rs148590649 | Likely Benign: not specified | 75,261,947(-) |
C/T NM_015971.4(MRPS7):c.47C>T (p.Ala16Val) |
MISSENSE_VARIANT,INTRON | |
| rs148641206 | Likely Benign: not specified | 75,261,966(-) |
T/C NM_015971.4(MRPS7):c.66T>C (p.Ala22=) |
SYNONYMOUS_VARIANT,INTRON | |
| rs1555594435 | Likely Benign: not specified | 75,261,851(-) |
G/A NM_001172703.3(GGA3):c.-177+431C>T |
INTRON | |
| rs1568094661 | Uncertain Significance: Nephrotic syndrome, type 17 | 75,232,884(-) |
C/T NM_024844.5(NUP85):c.1430C>T (p.Ala477Val) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
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
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GGA3 Gene
Disorders for GGA3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| nephrotic syndrome, type 17 |
|
|
| 3-methylglutaconic aciduria, type iv |
|
|
| 3-methylglutaconic aciduria, type vii |
|
|
| 3-methylglutaconic aciduria, type i |
|
|
| periventricular nodular heterotopia |
|
|
Search GGA3 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for GGA3
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for GGA3 Gene
Publications for GGA3 Gene
- 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 23
- 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
- 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
- GGA3 Interacts with a G Protein-Coupled Receptor and Modulates Its Cell Surface Export. (PMID: 26811329) Zhang M … Wu G (Molecular and cellular biology 2016) 3 4
- GGA3 mediates TrkA endocytic recycling to promote sustained Akt phosphorylation and cell survival. (PMID: 26446845) Li X … Lavoie C (Molecular biology of the cell 2015) 3 4
ExternalLinks
Products for GGA3 Gene
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- Browse Primary Antibodies
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- Invitrogen Antibodies for GGA3 (AFLGC-GGA3)
- VectorBuilder Custom and pre-made DNA vectors for GGA3 (ie. gene expression, shRNA knockdown, CRISPR)
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- antibodies-online: Show 17 available GGA3 Antibodies ranked by validation data
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- Search Santa Cruz Biotechnology (SCBT) for GGA3 siRNA/shRNA
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- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones,