TBC1D5 (TBC1 domain family member 5)

2016-10-01  

Identity

HGNC
TBC1D5
LOCATION
3p24.3
LOCUSID
9779
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9779
MIM: 615740
HGNC: 19166
Ensembl: ENSG00000131374

Variants:

dbSNP: 9779
ClinVar: 9779
TCGA: ENSG00000131374
COSMIC: TBC1D5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000131374ENST00000253692Q92609
ENSG00000131374ENST00000253692B9A6K1
ENSG00000131374ENST00000412981F2Z3I5
ENSG00000131374ENST00000414349C9K0P2
ENSG00000131374ENST00000415814C9JDR8
ENSG00000131374ENST00000425944C9JWX0
ENSG00000131374ENST00000428355C9JW04
ENSG00000131374ENST00000429383Q92609
ENSG00000131374ENST00000429383B9A6K1
ENSG00000131374ENST00000429924C9J3F6
ENSG00000131374ENST00000430169F2Z3I5
ENSG00000131374ENST00000433533C9JMP7
ENSG00000131374ENST00000434420C9JNM0
ENSG00000131374ENST00000444471C9JIU4
ENSG00000131374ENST00000445294C9J397
ENSG00000131374ENST00000446818Q92609
ENSG00000131374ENST00000446863C9JED7
ENSG00000131374ENST00000452492F2Z3I5
ENSG00000131374ENST00000507877F2Z3C3

Expression (GTEx)

0
5
10
15
20
25
30
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
195315832009Membrane recruitment of the cargo-selective retromer subcomplex is catalysed by the small GTPase Rab7 and inhibited by the Rab-GAP TBC1D5.135
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
246034922014TBC1D5 and the AP2 complex regulate ATG9 trafficking and initiation of autophagy.54
291583242018Control of RAB7 activity and localization through the retromer-TBC1D5 complex enables RAB7-dependent mitophagy.37
287467152017Identification of Genetic Loci Jointly Influencing Schizophrenia Risk and the Cognitive Traits of Verbal-Numerical Reasoning, Reaction Time, and General Cognitive Function.28
278273642016Structural and mechanistic insights into regulation of the retromer coat by TBC1d5.27
291469122017Structural insights into Legionella RidL-Vps29 retromer subunit interaction reveal displacement of the regulator TBC1D5.14
301115802018TBC1D5 controls the GTPase cycle of Rab7b.8

Citation

Dessen P

TBC1D5 (TBC1 domain family member 5)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56345/tbc1d5