GGA1 (golgi associated, gamma adaptin ear containing, ARF binding protein 1)

2014-11-01  

Identity

HGNC
GGA1
LOCATION
22q13.1
LOCUSID
26088
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 26088
MIM: 606004
HGNC: 17842
Ensembl: ENSG00000100083

Variants:

dbSNP: 26088
ClinVar: 26088
TCGA: ENSG00000100083
COSMIC: GGA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100083ENST00000325180Q9UJY5
ENSG00000100083ENST00000326597B0QYS0
ENSG00000100083ENST00000343632Q9UJY5
ENSG00000100083ENST00000381756Q9UJY5
ENSG00000100083ENST00000405147B0QYR5
ENSG00000100083ENST00000406772Q9UJY5
ENSG00000100083ENST00000411501B0QYS1
ENSG00000100083ENST00000413251B0QYS5
ENSG00000100083ENST00000423024B0QYS5
ENSG00000100083ENST00000429218B0QYS5
ENSG00000100083ENST00000431745B0QYR8
ENSG00000100083ENST00000439161B0QYS2
ENSG00000100083ENST00000447515B0QYR9
ENSG00000100083ENST00000449944B0QYR6
ENSG00000100083ENST00000453208B0QYS3

Expression (GTEx)

0
50
100
150
200
250
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
LysosomeKEGGko04142
LysosomeKEGGhsa04142
Metabolism of proteinsREACTOMER-HSA-392499
Amyloid fiber formationREACTOMER-HSA-977225
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
TBC/RABGAPsREACTOMER-HSA-8854214

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
332064552021Inactivation of the three GGA genes in HeLa cells partially compromises lysosomal enzyme sorting.4
332064552021Inactivation of the three GGA genes in HeLa cells partially compromises lysosomal enzyme sorting.4
291420732018GGA1 regulates signal-dependent sorting of BACE1 to recycling endosomes, which moderates Aβ production.27
291420732018GGA1 regulates signal-dependent sorting of BACE1 to recycling endosomes, which moderates Aβ production.27
279010632016Regulation of α(2B)-Adrenergic Receptor Cell Surface Transport by GGA1 and GGA2.15
279010632016Regulation of α(2B)-Adrenergic Receptor Cell Surface Transport by GGA1 and GGA2.15
244072852014Clathrin terminal domain-ligand interactions regulate sorting of mannose 6-phosphate receptors mediated by AP-1 and GGA adaptors.11
248662372014GGA1 overexpression attenuates amyloidogenic processing of the amyloid precursor protein in Niemann-Pick type C cells.3
244072852014Clathrin terminal domain-ligand interactions regulate sorting of mannose 6-phosphate receptors mediated by AP-1 and GGA adaptors.11
248662372014GGA1 overexpression attenuates amyloidogenic processing of the amyloid precursor protein in Niemann-Pick type C cells.3
226219002012GGA1-mediated endocytic traffic of LR11/SorLA alters APP intracellular distribution and amyloid-β production.31
226219002012GGA1-mediated endocytic traffic of LR11/SorLA alters APP intracellular distribution and amyloid-β production.31
197887412009Defects in cellular sorting and retroviral assembly induced by GGA overexpression.9
197887412009Defects in cellular sorting and retroviral assembly induced by GGA overexpression.9
174948682007PI4P promotes the recruitment of the GGA adaptor proteins to the trans-Golgi network and regulates their recognition of the ubiquitin sorting signal.79

Citation

Dessen P

GGA1 (golgi associated, gamma adaptin ear containing, ARF binding protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63763/js/gene-fusions/meetings/