ATAT1 (alpha tubulin acetyltransferase 1)

2017-08-01  

Identity

HGNC
ATAT1
LOCATION
6p21.33
LOCUSID
79969
ALIAS
C6orf134,MEC17,Nbla00487,TAT,alpha-TAT,alpha-TAT1

Other Information

Locus ID:

NCBI: 79969
MIM: 615556
HGNC: 21186
Ensembl: ENSG00000137343

Variants:

dbSNP: 79969
ClinVar: 79969
TCGA: ENSG00000137343
COSMIC: ATAT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000137343ENST00000318999Q5SQI0
ENSG00000137343ENST00000319027Q5SQI0
ENSG00000137343ENST00000329992Q5SQI0
ENSG00000137343ENST00000330083Q5SQI0
ENSG00000137343ENST00000330083A0A1U9X797
ENSG00000137343ENST00000376483Q5SQI0
ENSG00000137343ENST00000376485Q5SQI0

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833

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
PA443622Carcinoma, Non-Small-Cell LungDiseaseClinicalAnnotationassociatedPD31616045
PA445846ThrombocytopeniaDiseaseClinicalAnnotationassociatedPD31616045
PA448803carboplatinChemicalClinicalAnnotationassociatedPD31616045
PA449748gemcitabineChemicalClinicalAnnotationassociatedPD31616045

References

Pubmed IDYearTitleCitations
284284272017Microtubules acquire resistance from mechanical breakage through intralumenal acetylation.69
249061552014Molecular basis for age-dependent microtubule acetylation by tubulin acetyltransferase.52
198514452009High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.51
262273342015Tubulin acetylation: responsible enzymes, biological functions and human diseases.42
240973482013αTAT1 catalyses microtubule acetylation at clathrin-coated pits.25
230713142012Structure of the α-tubulin acetyltransferase, αTAT1, and implications for tubulin-specific acetylation.22
230713182012Atomic resolution structure of human α-tubulin acetyltransferase bound to acetyl-CoA.14
254941002014A Mec17-Myosin II Effector Axis Coordinates Microtubule Acetylation and Actin Dynamics to Control Primary Cilium Biogenesis.11
247605942015The elongation of primary cilia via the acetylation of α-tubulin by the treatment with lithium chloride in human fibroblast KD cells.10
248466472014Structural and functional characterization of the α-tubulin acetyltransferase MEC-17.9

Citation

Dessen P

ATAT1 (alpha tubulin acetyltransferase 1)

Atlas Genet Cytogenet Oncol Haematol. 2017-08-01

Online version: http://atlasgeneticsoncology.org/gene/57048/atat1