GGA2 golgi-associated, gamma adaptin ear containing, ARF binding protein 2 [Homo sapiens] - Gene

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Summary

Official Symbol: GGA2provided by HGNC
Official Full Name: golgi-associated, gamma adaptin ear containing, ARF binding protein 2provided by HGNC
Primary source: HGNC:16064
See related: Ensembl:ENSG00000103365; HPRD:09347; MIM:606005; Vega:OTTHUMG00000096957
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: VEAR
Summary: 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. This family member may play a significant role in cargo molecules regulation and clathrin-coated vesicle assembly. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 16p12

Sequence :: Chromosome: 16; NC_000016.9 (23474863..23521815, complement)

See GGA2 in Epigenomics, MapViewer

Chromosome 16 - NC_000016.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

GGA overexpression causes various sorting defects as measured by recycling of CD-MPR, internalization of transferrin receptor, and the subcellular localization of proteins like Tsg101, ubiquitin, and Hrs.
Title: Defects in cellular sorting and retroviral assembly induced by GGA overexpression.
GGA2 is recruited to the trans-Golgi network independently of the other Golgi-localized, gamma-ear-containing, ARF-binding proteins and is required for the efficient sorting of lysosomal enzymes
Title: Specific depletion of GGA2 causes cathepsin D missorting in HeLa cells.
Results demonstrate that cargo proteins contribute to the recruitment of GGA2 onto membranes and to the formation of GGA-positive clathrin-coated vesicles.
Title: The role of cargo proteins in GGA recruitment.
p56 tightly cooperates with the GGAs in the sorting of cathepsin D to lysosomes, probably by enabling the movement of GGA-containing transport carriers.
Title: The trans-Golgi network accessory protein p56 promotes long-range movement of GGA/clathrin-containing transport carriers and lysosomal enzyme sorting.
These results show that the dual roles of PI4P can promote specific GGA targeting and cargo recognition at the trans-Golgi network.
Title: PI4P promotes the recruitment of the GGA adaptor proteins to the trans-Golgi network and regulates their recognition of the ubiquitin sorting signal.
endocytosis and intracellular transport of memapsin 2, mediated by its cytosolic domain, may involve the binding of GGA1 and GGA2
Title: Memapsin 2 (beta-secretase) cytosolic domain binds to the VHS domains of GGA1 and GGA2: implications on the endocytosis mechanism of memapsin 2.
GGA proteins function with the phosphorylated ACDL in the memasin 2-recycling pathway from endosomes to trans Golgi on the way back to the cell surface.
Title: GGA proteins mediate the recycling pathway of memapsin 2 (BACE).

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
Q9UJY4	Q6ULP2	AFTPH	HPRD	PubMed
Q9UJY4	P84077	ARF1	HPRD	PubMed
Q9UJY4	P61204	ARF3	HPRD	PubMed
Q9UJY4	P56817	BACE1	HPRD	PubMed
Q9UJY4	Q7Z6B0	CCDC91	HPRD	PubMed
Q9UJY4	Q14677	CLINT1	HPRD	PubMed
Q9UJY4	Q00610	CLTC	HPRD	PubMed
Q9UJY4	Q9UJY4	GGA2	HPRD	PubMed
Q9UJY4	P11717	IGF2R	HPRD	PubMed
Q9UJY4	O75074	LRP3	HPRD	PubMed
Q9UJY4	P20645	M6PR	HPRD	PubMed
Q9UJY4	Q13526	PIN1	HPRD	PubMed
Q9UJY4	Q15276	RABEP1	HPRD	PubMed
Q9UJY4	Q9UJ41	RABGEF1	HPRD	PubMed
Q9UJY4	Q92673	SORL1	HPRD	PubMed
Q9UJY4	Q99523	SORT1	HPRD	PubMed
Q9UJY4	Q9NZD8	SPG21	HPRD	PubMed
Q9UJY4	Q9UMZ2	SYNRG	HPRD	PubMed
Q9UJY4	P36406	TRIM23	HPRD	PubMed
BioGRID:116697	BioGRID:106872	ARF3	BioGRID	PubMed	Two-hybrid
BioGRID:116697	BioGRID:117353	BACE2	BioGRID	PubMed	Protein-peptide; Reconstituted Complex
BioGRID:116697	BioGRID:115038	CLINT1	BioGRID	PubMed	Reconstituted Complex
BioGRID:116697	BioGRID:107623	CLTC	BioGRID	PubMed	Reconstituted Complex
BioGRID:116697	BioGRID:114593	HGS	BioGRID	PubMed	Reconstituted Complex
BioGRID:116697	BioGRID:110251	M6PR	BioGRID	PubMed	Two-hybrid
BioGRID:116697	BioGRID:120832	NECAP2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:116697	BioGRID:111317	PIN1	BioGRID	PubMed	Two-hybrid
BioGRID:116697	BioGRID:111806	RAB5A	BioGRID	PubMed	Two-hybrid
BioGRID:116697	BioGRID:114583	RABEP1	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:116697	BioGRID:112536	SORL1	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:116697	BioGRID:112180	SORT1	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:116697	BioGRID:119474	SPG21	BioGRID	PubMed	Two-hybrid
BioGRID:116697	BioGRID:106868	TRIM23	BioGRID	PubMed	Two-hybrid
BioGRID:116697	BioGRID:121664	VPS18	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex

Function	Evidence Code	Pubs
ADP-ribosylation factor binding	IDA Inferred from Direct Assay more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
intracellular protein transport	NAS Non-traceable Author Statement more info	PubMed
vesicle-mediated transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
clathrin adaptor complex	IEA Inferred from Electronic Annotation more info
clathrin-coated vesicle	IDA Inferred from Direct Assay more info	PubMed
endosome	IEA Inferred from Electronic Annotation more info
endosome membrane	IEA Inferred from Electronic Annotation more info
intracellular	NAS Non-traceable Author Statement more info	PubMed
membrane	IEA Inferred from Electronic Annotation more info
trans-Golgi network	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: ADP-ribosylation factor-binding protein GGA2

Names: ADP-ribosylation factor-binding protein GGA2; gamma-adaptin-related protein 2; VHS domain and ear domain of gamma-adaptin; VHS domain and ear domain-containing protein; golgi-localized, gamma ear-containing, ARF-binding protein 2; golgi associated, gamma adaptin ear containing, ARF binding protein 2

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_015044.4 → NP_055859.1 ADP-ribosylation factor-binding protein GGA2

Status: REVIEWED

Source sequence(s)

AC008915, AF165531, DA439738

Consensus CDS

CCDS10611.1

UniProtKB/Swiss-Prot

Q9UJY4

Related

ENSP00000311962, OTTHUMP00000122425, ENST00000309859, OTTHUMT00000214019

Conserved Domains (3) summary

cd03567
Location:25 – 163
Blast Score: 624

VHS_GGA; VHS domain family, GGA subfamily; GGA (Golgi-localized, Gamma-ear-containing, Arf-binding) comprise a subfamily of ubiquitously expressed, monomeric, motif-binding cargo/clathrin adaptor proteins. The VHS domain has a superhelical structure similar to ...

pfam03127
Location:241 – 319
Blast Score: 211

GAT; GAT domain

cl03759
Location:491 – 605
Blast Score: 265

Alpha_adaptinC2; Adaptin C-terminal domain

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000016.9 Reference GRCh37.p5 Primary Assembly

Range

23474863..23521815, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000148.1

Range

21565046..21612493, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)
NW_001841795.1

Range

1..2780, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC002400.1	AAC05813.1
genomic	AC008915.11 (131852..135872)	None
genomic	CH471145.2	EAW55827.1
		EAW55828.1
		EAW55829.1
mRNA	AB029003.1	BAA83032.1
mRNA	AF165531.1	AAF42806.1
mRNA	AF190863.1	AAF05708.1
mRNA	AF233522.1	AAF35394.1
mRNA	AF323754.1	AAK38634.1
mRNA	AK024619.1	None
mRNA	AK026350.1	None
mRNA	AK093769.1	None
mRNA	AK308425.1	None
mRNA	BC000284.1	AAH00284.1
mRNA	BC050620.1	None
mRNA	BU689580.1	None
mRNA	BU855556.1	None
mRNA	CN423115.1	None
mRNA	DA439738.1	None
other-genetic	DQ892534.2	ABM83460.1
other-genetic	DQ895745.2	ABM86671.1