A0A0G2JV04

SS
Gene name
Gga3
Protein name
ADP-ribosylation factor-binding protein GGA3
Names
Golgi-localized, gamma ear-containing, ARF-binding protein 3
Species
Rattus norvegicus (Rat)
KEGG Pathway
EC number
Protein Class

Descriptions

The cytosolic adaptors GGA1-3 mediate sorting of transmembrane proteins. GGA1 contains an autoinhibitory region that is activated by the phosphorylation of a serine positioned three residues upstream of the DXXLL motif. Autoinhibition is achieved by the interaction between DXXLL site and the VHS domain in CGGA1, and the phosphoserine upstream of the DXXLL motif facilitates this interaction.

Autoinhibitory domains (AIDs)

388-395 (Autoinhibitory site in hinge region) SS

Target domain

5-146 (VHS domain)

Relief mechanism

PTM

Assay

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

1 structures for A0A0G2JV04

Entry ID Method Resolution Chain Position Source
AF-A0A0G2JV04-F1 Predicted AlphaFoldDB

1 variants for A0A0G2JV04

Variant ID(s) Position Change Description Diseaes Association Provenance
rs198464089 383 T>M No EVA

12 associated diseases with A0A0G2JV04

[MIM: 131440]: Myeloproliferative disorder chronic with eosinophilia (MPE)

A hematologic disorder characterized by malignant eosinophils proliferation. . Note=The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving ETV6 is found in many instances of myeloproliferative disorder chronic with eosinophilia. Translocation t(5;12) with PDGFRB on chromosome 5 creating an ETV6-PDGFRB fusion protein. .

[MIM: 601626]: Leukemia, acute myelogenous (AML)

A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes. . Note=The gene represented in this entry is involved in disease pathogenesis.

[MIM: 616216]: Thrombocytopenia 5 (THC5)

A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC5 is an autosomal dominant disorder, associated with an increased susceptibility to the development of hematologic and solid malignancies. . Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • A hematologic disorder characterized by malignant eosinophils proliferation. . Note=The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving ETV6 is found in many instances of myeloproliferative disorder chronic with eosinophilia. Translocation t(5;12) with PDGFRB on chromosome 5 creating an ETV6-PDGFRB fusion protein. .
  • A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes. . Note=The gene represented in this entry is involved in disease pathogenesis.
  • A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC5 is an autosomal dominant disorder, associated with an increased susceptibility to the development of hematologic and solid malignancies. . Note=The disease is caused by variants affecting the gene represented in this entry.

2 regional properties for A0A0G2JV04

Type Name Position InterPro Accession
domain Ets domain 338 - 424 IPR000418
domain Pointed domain 38 - 124 IPR003118

Functions

Description
EC Number
Subcellular Localization
  • 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
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

7 GO annotations of cellular component

Name Definition
early endosome A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways.
early endosome membrane The lipid bilayer surrounding an early endosome.
lysosome A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions.
protein-containing complex A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.
recycling endosome An organelle consisting of a network of tubules that functions in targeting molecules, such as receptors transporters and lipids, to the plasma membrane.
recycling endosome membrane The lipid bilayer surrounding a recycling endosome.
trans-Golgi network The network of interconnected tubular and cisternal structures located within the Golgi apparatus on the side distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination.

4 GO annotations of molecular function

Name Definition
phosphatidylinositol binding Binding to an inositol-containing glycerophospholipid, i.e. phosphatidylinositol (PtdIns) and its phosphorylated derivatives.
protein-containing complex binding Binding to a macromolecular complex.
small GTPase binding Binding to a small monomeric GTPase.
ubiquitin binding Binding to ubiquitin, a protein that when covalently bound to other cellular proteins marks them for proteolytic degradation.

11 GO annotations of biological process

Name Definition
endocytic recycling The directed movement of membrane-bounded vesicles from endosomes back to the plasma membrane, a trafficking pathway that promotes the recycling of internalized transmembrane proteins.
Golgi to plasma membrane protein transport The directed movement of proteins from the Golgi to the plasma membrane in transport vesicles that move from the trans-Golgi network to the plasma membrane.
Golgi to plasma membrane transport The directed movement of substances from the Golgi to the plasma membrane in transport vesicles that move from the trans-Golgi network to the plasma membrane, where they fuse and release their contents by exocytosis.
negative regulation of amyloid-beta formation Any process that stops, prevents or reduces the frequency, rate or extent of amyloid-beta formation.
positive regulation of protein catabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds.
protein catabolic process The chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds.
protein destabilization Any process that decreases the stability of a protein, making it more vulnerable to degradative processes or aggregation.
protein localization to cell surface A process in which a protein is transported to, or maintained in, a location within the external part of the cell wall and/or plasma membrane.
protein localization to lysosome A process in which a protein is transported to, or maintained in, a location within a lysosome.
protein targeting to lysosome The process of directing proteins towards the lysosome using signals contained within the protein.
regulation of protein stability Any process that affects the structure and integrity of a protein, altering the likelihood of its degradation or aggregation.

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9NZ52 GGA3 ADP-ribosylation factor-binding protein GGA3 Homo sapiens (Human) EV
Q8BMI3 Gga3 ADP-ribosylation factor-binding protein GGA3 Mus musculus (Mouse) SS
10 20 30 40 50 60
MAEAEGESLE SWLNKATNPS NRQEDWEYII GFCDQINKEL EGPQIAVRLL AHKIQSPQEW
70 80 90 100 110 120
EAVQALTVLE ACMKNCGRRL HNEVGKFRFL NELIKVVSPK YLGDRVSEKV KAKVIELLFS
130 140 150 160 170 180
WTLALPEEAK IKDAYHMLKR QGIVQSDPPI PMDRTLIPSP PPRPKNPVFD DEEKSKLLAK
190 200 210 220 230 240
LLRSKNPDDL QEANQLIKSM VKEDEARIQK VTKRLHTLEE VNNNVKLLHE MLLHYSQEFS
250 260 270 280 290 300
SEADKELMKE LFDRCENKRR TLFKLASETE DNDNSLGDIL QASDNLSRVI NSYKTIIEGQ
310 320 330 340 350 360
IINGEVTTST VPDSEGNSHC GNQGALIDLA ELDTPSSSSP VLAPAPAPPT SGIPILPPPP
370 380 390 400 410 420
QTSGPPRSRS SSQAEAPSGP DSTNNALSLL DEELLCLGLS DPAPTAPKES AGNSPWHLFQ
430 440 450 460 470 480
NEPSSDLDFF SPRLVSAASC PSEGSLLPPP VSTSSLSQAP LPAAFPAPVV PASAVTHSTG
490 500 510 520 530 540
SFTFSSGPAP ALVPKAEPEG PEYPSSSISH RLDALDQLLE EAKVTSGLVK PVSCFSPGPT
550 560 570 580 590 600
ASPLLPASTP ARPLLPFSTG PGSPLFQSPA FQSQGSPQKG PELSLASVHV PLESIKPSSA
610 620 630 640 650 660
LPVTAYDKNG FRILFHFAKE CPPGRPDVLV VVVSMLNTAP LPVKSIVLQA AVPKSMKVKL
670 680 690 700 710 720
QPPSGTELSP FSPIQPPAAI TQVMLLANPM KEKVRLRYKL TFALGEQLST ELGEVDQFPP
VEQWGNL