TUBGCP6 (tubulin gamma complex associated protein 6)

2014-11-01  

Identity

HGNC
TUBGCP6
LOCATION
22q13.33
LOCUSID
85378
ALIAS
GCP-6,GCP6,MCCRP,MCCRP1,MCPHCR

Other Information

Locus ID:

NCBI: 85378
MIM: 610053
HGNC: 18127
Ensembl: ENSG00000128159

Variants:

dbSNP: 85378
ClinVar: 85378
TCGA: ENSG00000128159
COSMIC: TUBGCP6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000128159ENST00000248846Q96RT7
ENSG00000128159ENST00000425018H7C2H5
ENSG00000128159ENST00000434349H7C358
ENSG00000128159ENST00000439308E7EQL8

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

Pathways

PathwaySourceExternal ID
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
Mitotic G2-G2/M phasesREACTOMER-HSA-453274
G2/M TransitionREACTOMER-HSA-69275
Centrosome maturationREACTOMER-HSA-380287
Recruitment of mitotic centrosome proteins and complexesREACTOMER-HSA-380270
Recruitment of NuMA to mitotic centrosomesREACTOMER-HSA-380320

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
222795242012Genetic mapping and exome sequencing identify variants associated with five novel diseases.97
202055912010Host determinants of HIV-1 control in African Americans.80
223029952012GCP6 is a substrate of Plk4 and required for centriole duplication.32
171828592007GCP6 binds to intermediate filaments: a novel function of keratins in the organization of microtubules in epithelial cells.16
310776652019Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly.1

Citation

Dessen P

TUBGCP6 (tubulin gamma complex associated protein 6)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75375/tubgcp6