1. Gene
  2. GGA3 - golgi associated, gamma adaptin ear containing, ARF binding protein 3 Gene

GGA3 - golgi associated, gamma adaptin ear containing, ARF binding protein 3 Gene

Homo sapiens
Gene ID: 23163 | Gene type: protein coding

About GGA3

Cytogenetic location: 17q25.1 Genomic coordinates (GRCh38): 17:75,223,728-75,262,363 (from NCBI)

This gene has 24 transcripts (splice variants), 279 orthologues and 10 paralogues. Ubiquitous expression in spleen (RPKM 11.9), lymph node (RPKM 11.0) and 25 other tissues.

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. Multiple alternatively spliced transcript variants have been identified in this gene. [provided by RefSeq, Feb 2010]

GGA3 Products(6)

mRNA Protein Name
NM_001172703.3 NP_001166174.1 ADP-ribosylation factor-binding protein GGA3 isoform 1
NM_001172704.3 NP_001166175.1 ADP-ribosylation factor-binding protein GGA3 isoform 2
NM_001291641.2 NP_001278570.1 ADP-ribosylation factor-binding protein GGA3 isoform 1
NM_001291642.2 NP_001278571.1 ADP-ribosylation factor-binding protein GGA3 isoform 3
NM_014001.5 NP_054720.1 ADP-ribosylation factor-binding protein GGA3 isoform short
NM_138619.4 NP_619525.1 ADP-ribosylation factor-binding protein GGA3 isoform long

GGA3 Protein Structure

VHS

VHS: VHS domain (5 - 141)

  • 0
  • 100
  • 153 a.a.
Protein Preferred Names Protein Names

ADP-ribosylation factor-binding protein GGA3

Golgi-localized, gamma ear-containing, ARF-binding protein 3

Related Diseases

Diseases Alias
Nephrotic Syndrome, Type 17

NPHS17

Nephrotic Syndrome Type 17

Nephrotic Syndrome 17

Dyschromatosis Universalis Hereditaria

Duh

Periventricular Nodular Heterotopia

Periventricular Heterotopia

Pvnh

Familial Nodular Heterotopia

Heterotopia, Periventricular

Periventricular Heterotopia, X-Linked

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris GGA3 VGNC VGNC:41195
Rattus norvegicus GGA3 RGD RGD:1309553
Bos taurus GGA3 VGNC VGNC:29337
Felis catus GGA3 VGNC VGNC:62534
Macaca mulatta GGA3 VGNC VGNC:72733
Mus musculus GGA3 MGD MGI:2384159