Gene Gene information from NCBI Gene database.
Entrez ID 79969
Gene name Alpha tubulin acetyltransferase 1
Gene symbol ATAT1
Synonyms (NCBI Gene)
C6orf134MEC17Nbla00487TATalpha-TATalpha-TAT1
Chromosome 6
Chromosome location 6p21.33
Summary This gene encodes a protein that localizes to clathrin-coated pits, where it acetylates alpha tubulin on lysine 40. This process may be important in microtubule growth, for instance during chemotaxis and the formation of cilium. Alternative splicing resul
miRNA miRNA information provided by mirtarbase database.
871
miRTarBase ID miRNA Experiments Reference
MIRT029620 hsa-miR-26b-5p Microarray 19088304
MIRT004517 hsa-miR-23a-3p Reporter assay 15131085
MIRT048434 hsa-miR-100-5p CLASH 23622248
MIRT038440 hsa-miR-296-3p CLASH 23622248
MIRT628725 hsa-miR-548az-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
40
GO ID Ontology Definition Evidence Reference
GO:0000226 Process Microtubule cytoskeleton organization IBA
GO:0000226 Process Microtubule cytoskeleton organization IEA
GO:0004468 Function L-lysine N-acetyltransferase activity, acting on acetyl phosphate as donor EXP 23071318
GO:0004468 Function L-lysine N-acetyltransferase activity, acting on acetyl phosphate as donor IDA 24906155
GO:0005515 Function Protein binding IPI 36931259
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615556 21186 ENSG00000137343
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5SQI0
Protein name Alpha-tubulin N-acetyltransferase 1 (Alpha-TAT) (Alpha-TAT1) (TAT) (EC 2.3.1.108) (Acetyltransferase mec-17 homolog)
Protein function Specifically acetylates 'Lys-40' in alpha-tubulin on the lumenal side of microtubules. Promotes microtubule destabilization and accelerates microtubule dynamics; this activity may be independent of acetylation activity. Acetylates alpha-tubulin
PDB 3VWD , 3VWE , 4B5O , 4B5P , 4GS4 , 4IF5 , 4PK2 , 4PK3 , 4U9Y , 4U9Z
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05301 Acetyltransf_16 8 190 GNAT acetyltransferase, Mec-17 Family
Sequence
MEFPFDVDALFPERITVLDQHLRPPARRPGTTTPARVDLQQQIMTIIDELGKASAKAQNL
SAPITSASRMQSNRHVVYILKDSSARPAGKGAIIGFIKVGYKKLFVLDDREAHNEVEPLC
ILDFYIHESVQRHGHGRELFQYMLQKERVEPHQLAIDRPSQKLLKFLNKHYNLETTVPQV
NNFVIFEGFF
AHQHRPPAPSLRATRHSRAAAVDPTPAAPARKLPPKRAEGDIKPYSSSDR
EFLKVAVEPPWPLNRAPRRATPPAHPPPRSSSLGNSPERGPLRPFVPEQELLRSLRLCPP
HPTARLLLAADPGGSPAQRRRTRGTPPGLVAQSCCYSRHGGVNSSSPNTGNQDSKQGEQE
TKNRSASEEQALSQDGSGEKPMHTAPPQAPAPPAQSWTVGGDILNARFIRNLQERRSTRP
W
Sequence length 421
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Cilium Assembly
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
High myopia Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 11127398
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 19405118
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 11127398
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 23681227
★☆☆☆☆
Found in Text Mining only
Ameloblastoma Ameloblastoma Pubtator 34508164 Associate
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 25484286
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 22072391
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 24708692
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 28774899
★☆☆☆☆
Found in Text Mining only
Antithrombin III Deficiency Antithrombin Deficiency BEFREE 9134630
★☆☆☆☆
Found in Text Mining only