GTPBP1 (GTP binding protein 1)

2014-11-01  

Identity

HGNC
GTPBP1
LOCATION
22q13.1
LOCUSID
9567
ALIAS
GP-1,GP1,HSPC018
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9567
MIM: 602245
HGNC: 4669
Ensembl: ENSG00000100226

Variants:

dbSNP: 9567
ClinVar: 9567
TCGA: ENSG00000100226
COSMIC: GTPBP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100226ENST00000216044O00178
ENSG00000100226ENST00000418601F8WAZ4
ENSG00000100226ENST00000458073B0QY59
ENSG00000100226ENST00000470836F5H7C0
ENSG00000100226ENST00000484657F5H716
ENSG00000100226ENST00000484971H0YGA8
ENSG00000100226ENST00000487538H0YH10
ENSG00000100226ENST00000488787F5H257
ENSG00000100226ENST00000489527H0YF75

Expression (GTEx)

0
10
20
30
40
50
60
70
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
381184462024Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.0
381184462024Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.0
301081312018Functions of unconventional mammalian translational GTPases GTPBP1 and GTPBP2.17
301081312018Functions of unconventional mammalian translational GTPases GTPBP1 and GTPBP2.17

Citation

Dessen P

GTPBP1 (GTP binding protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64101/gtpbp1-(gtp-binding-protein-1)