TUBB1 (tubulin beta 1 class VI)

2007-02-01  

Identity

HGNC
TUBB1
LOCATION
20q13.32
LOCUSID
81027
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 81027
MIM: 612901
HGNC: 16257
Ensembl: ENSG00000101162

Variants:

dbSNP: 81027
ClinVar: 81027
TCGA: ENSG00000101162
COSMIC: TUBB1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101162ENST00000217133Q9H4B7

Expression (GTEx)

0
5
10
15
20
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
Gap junctionKEGGko04540
Pathogenic Escherichia coli infectionKEGGko05130
Gap junctionKEGGhsa04540
Pathogenic Escherichia coli infectionKEGGhsa05130
PhagosomeKEGGko04145
PhagosomeKEGGhsa04145
Metabolism of proteinsREACTOMER-HSA-392499
Protein foldingREACTOMER-HSA-391251
Chaperonin-mediated protein foldingREACTOMER-HSA-390466
Cooperation of Prefoldin and TriC/CCT in actin and tubulin foldingREACTOMER-HSA-389958
Prefoldin mediated transfer of substrate to CCT/TriCREACTOMER-HSA-389957
Formation of tubulin folding intermediates by CCT/TriCREACTOMER-HSA-389960
Post-chaperonin tubulin folding pathwayREACTOMER-HSA-389977

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443560Breast NeoplasmsDiseaseClinicalAnnotationassociated25148458
PA448432anastrozoleChemicalClinicalAnnotationassociated25148458
PA449563exemestaneChemicalClinicalAnnotationassociated25148458

References

Pubmed IDYearTitleCitations
353887512023ADAM19 and TUBB1 Correlate with Tumor Infiltrating Immune Cells and Predicts Prognosis in Osteosarcoma.2
353887512023ADAM19 and TUBB1 Correlate with Tumor Infiltrating Immune Cells and Predicts Prognosis in Osteosarcoma.2
328925372021Identification of novel TUBB1 variants in patients with macrothrombocytopenia.0
334006012021Identification of a pathogenic TUBB1 variant in a Chinese family with congenital macrothrombocytopenia through whole genome sequencing.2
336124782021Associations between TUBB-WWOX SNPs, their haplotypes, gene-gene, and gene-environment interactions and dyslipidemia.4
345166182021Expanding the genetic spectrum of TUBB1-related thrombocytopenia.6
328925372021Identification of novel TUBB1 variants in patients with macrothrombocytopenia.0
334006012021Identification of a pathogenic TUBB1 variant in a Chinese family with congenital macrothrombocytopenia through whole genome sequencing.2
336124782021Associations between TUBB-WWOX SNPs, their haplotypes, gene-gene, and gene-environment interactions and dyslipidemia.4
345166182021Expanding the genetic spectrum of TUBB1-related thrombocytopenia.6
308546282019TUBB1 dysfunction in inherited thrombocytopenia causes genome instability.6
316424292019[TUBB1 mutation in children with congenital hypothyroidism and thyroid dysgenesis in Shandong, China].1
308546282019TUBB1 dysfunction in inherited thrombocytopenia causes genome instability.6
316424292019[TUBB1 mutation in children with congenital hypothyroidism and thyroid dysgenesis in Shandong, China].1
304464992018TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology.23

Citation

Dessen P

TUBB1 (tubulin beta 1 class VI)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43959/js/cancer-prone-explorer/css/template-nav.css