GIGYF1 (GRB10 interacting GYF protein 1)

2014-11-01  

Identity

HGNC
GIGYF1
LOCATION
7q22.1
LOCUSID
64599
ALIAS
GYF1,PERQ1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 64599
MIM: 612064
HGNC: 9126
Ensembl: ENSG00000146830

Variants:

dbSNP: 64599
ClinVar: 64599
TCGA: ENSG00000146830
COSMIC: GIGYF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000146830ENST00000275732O75420
ENSG00000146830ENST00000646601O75420

Expression (GTEx)

0
50
100
150
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

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
369249802023Genetic Ablation of GIGYF1, Associated With Autism, Causes Behavioral and Neurodevelopmental Defects in Zebrafish and Mice.1
374848052023Low Expression of GIGYF1 Inhibits Metastasis, Proliferation, and Promotes Apoptosis and Autophagy of Gastric Cancer Cells.1
369249802023Genetic Ablation of GIGYF1, Associated With Autism, Causes Behavioral and Neurodevelopmental Defects in Zebrafish and Mice.1
374848052023Low Expression of GIGYF1 Inhibits Metastasis, Proliferation, and Promotes Apoptosis and Autophagy of Gastric Cancer Cells.1
361897992022GIGYF1-disturbed IGF-1R recycling: a potential contributor to autism spectrum disorder pathogenesis?1
361897992022GIGYF1-disturbed IGF-1R recycling: a potential contributor to autism spectrum disorder pathogenesis?1
342341472021GIGYF1 loss of function is associated with clonal mosaicism and adverse metabolic health.15
347328012021Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes.18
342341472021GIGYF1 loss of function is associated with clonal mosaicism and adverse metabolic health.15
347328012021Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes.18
3305335520204EHP and GIGYF1/2 Mediate Translation-Coupled Messenger RNA Decay.27
3305335520204EHP and GIGYF1/2 Mediate Translation-Coupled Messenger RNA Decay.27
176729182007Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns.20
176729182007Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns.20

Citation

Dessen P

GIGYF1 (GRB10 interacting GYF protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63780/deep-insight-explorer/js/lib/all.min.js