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Aliases for ATAT1 Gene

Aliases for ATAT1 Gene

  • Alpha Tubulin Acetyltransferase 1 2 3 5
  • Acetyltransferase Mec-17 Homolog 3 4
  • Alpha-TAT1 3 4
  • Alpha-TAT 3 4
  • C6orf134 3 4
  • MEC17 3 4
  • TAT 3 4
  • Chromosome 6 Open Reading Frame 134 2
  • Alpha-Tubulin N-Acetyltransferase 1 3
  • Alpha-Tubulin N-Acetyltransferase 2
  • EC 2.3.1.108 4
  • Nbla00487 3

External Ids for ATAT1 Gene

Previous HGNC Symbols for ATAT1 Gene

  • C6orf134

Previous GeneCards Identifiers for ATAT1 Gene

  • GC06P030394
  • GC06P030596
  • GC06P030598
  • GC06P030605
  • GC06P030610

Summaries for ATAT1 Gene

Entrez Gene Summary for ATAT1 Gene

  • 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 results in multiple transcript variants. [provided by RefSeq, Jan 2016]

GeneCards Summary for ATAT1 Gene

ATAT1 (Alpha Tubulin Acetyltransferase 1) is a Protein Coding gene. Diseases associated with ATAT1 include Blood Coagulation Disease. Among its related pathways are Organelle biogenesis and maintenance. GO annotations related to this gene include coenzyme binding and tubulin N-acetyltransferase activity.

UniProtKB/Swiss-Prot for ATAT1 Gene

  • 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 with a slow enzymatic rate, due to a catalytic site that is not optimized for acetyl transfer. Enters the microtubule through each end and diffuses quickly throughout the lumen of microtubules. Acetylates only long/old microtubules because of its slow acetylation rate since it does not have time to act on dynamically unstable microtubules before the enzyme is released. Required for normal sperm flagellar function. Promotes directional cell locomotion and chemotaxis, through AP2A2-dependent acetylation of alpha-tubulin at clathrin-coated pits that are concentrated at the leading edge of migrating cells. May facilitate primary cilium assembly.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATAT1 Gene

Genomics for ATAT1 Gene

Regulatory Elements for ATAT1 Gene

Enhancers for ATAT1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F030541 1.3 Ensembl ENCODE 11.5 -83.8 -83804 3.9 HDGF PKNOX1 WRNIP1 ARID4B SIN3A ZNF48 ZNF2 YY1 ZNF121 ZNF766 ABCF1 ENSG00000235781 MIR877 MRPS18B PPP1R10 ATAT1 PTMAP1 C6orf136 HLA-C HCG4
GH06F030735 1.1 Ensembl ENCODE 12 +110.3 110274 2.9 HDGF TBP PKNOX1 WRNIP1 BMI1 ZBTB40 ZNF366 GATA2 ELK1 ZNF143 PTMAP1 ATAT1 MRPS18B PPP1R10 PSORS1C2 MDC1-AS1 C6orf136 DHX16 VARS2 TRIM31
GH06F030597 0.9 ENCODE 12.8 -29.3 -29328 0.2 YBX3 ARNT ZNF2 RAD21 RFX5 SLC30A9 EGR1 ZNF143 CREM EGR2 PPP1R10 ATAT1 PTMAP1 GNL1 PRR3 C6orf136 MDC1-AS1 MDC1 ABCF1 PIR62319
GH06F030655 0.6 ENCODE 12.2 +30.1 30109 2.1 ZFHX2 ZFP64 CREB1 ZNF600 BCL6 ZNF48 EGR2 DHX16 PTMAP1 ATAT1 MRPS18B PPP1R10 MDC1 MIR877 ABCF1 C6orf136
GH06F030601 0.5 ENCODE 12.8 -25.2 -25228 0.9 PAF1 SMAD5 POLR2A ZNF600 ATAT1 PTMAP1 GNL1 PRR3 C6orf136 MDC1-AS1 MDC1 IFITM4P PIR62319 MRPS18B
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ATAT1 on UCSC Golden Path with GeneCards custom track

Promoters for ATAT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000025186 164 801 HDGF PKNOX1 ATF1 ARID4B SIN3A DMAP1 ZNF48 ETS1 GLIS2 ELK1

Genomic Location for ATAT1 Gene

Chromosome:
6
Start:
30,626,836 bp from pter
End:
30,646,823 bp from pter
Size:
19,988 bases
Orientation:
Plus strand

Genomic View for ATAT1 Gene

Genes around ATAT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATAT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATAT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for ATAT1 Gene

  • Protein details for ATAT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5SQI0-ATAT_HUMAN
    Recommended name:
    Alpha-tubulin N-acetyltransferase 1
    Protein Accession:
    Q5SQI0
    Secondary Accessions:
    • A2AB28
    • Q3LIB0
    • Q5JP39
    • Q5JP40
    • Q5JP42
    • Q5SQI1
    • Q5SU03
    • Q86X42
    • Q8NDK9
    • Q9BRS1
    • Q9H8X5

    Protein attributes for ATAT1 Gene

    Size:
    421 amino acids
    Molecular mass:
    46810 Da
    Quaternary structure:
    • Component of the BBSome complex. Interacts with AP2 alpha-adaptins, including AP2A2, but not with AP1 gamma-adaptin (AP1G1/AP1G2); this interaction is required for efficient alpha-tubulin acetylation, hence clathrin-coated pits are sites of microtubule acetylation.

    Three dimensional structures from OCA and Proteopedia for ATAT1 Gene

    Alternative splice isoforms for ATAT1 Gene

neXtProt entry for ATAT1 Gene

Post-translational modifications for ATAT1 Gene

  • Autoacetylation strongly increases tubulin acetylation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ATAT1 Gene

Domains & Families for ATAT1 Gene

Protein Domains for ATAT1 Gene

Suggested Antigen Peptide Sequences for ATAT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5SQI0

UniProtKB/Swiss-Prot:

ATAT_HUMAN :
  • Contains 1 N-acetyltransferase domain.
  • Belongs to the acetyltransferase ATAT1 family.
Domain:
  • Contains 1 N-acetyltransferase domain.
Family:
  • Belongs to the acetyltransferase ATAT1 family.
genes like me logo Genes that share domains with ATAT1: view

No data available for Gene Families for ATAT1 Gene

Function for ATAT1 Gene

Molecular function for ATAT1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=2.0 uM for free alpha-tubulin {ECO:0000269 PubMed:21068373, ECO:0000269 PubMed:23071314}; KM=1.6 uM for polymerized tubulin (microtubules) {ECO:0000269 PubMed:21068373, ECO:0000269 PubMed:23071314}; KM=2.2 uM for acetyl-CoA {ECO:0000269 PubMed:21068373, ECO:0000269 PubMed:23071314}; Note=kcat is 2.2 h(-1) for the acetylation of polymerized tubulin (microtubules), 0.35 h(-1) for the acetylation of free tubulin, and 1.47 h(-1)with acetyl-CoA as substrate.;
UniProtKB/Swiss-Prot CatalyticActivity:
Acetyl-CoA + [alpha-tubulin]-L-lysine = CoA + [alpha-tubulin]-N(6)-acetyl-L-lysine.
UniProtKB/Swiss-Prot 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 with a slow enzymatic rate, due to a catalytic site that is not optimized for acetyl transfer. Enters the microtubule through each end and diffuses quickly throughout the lumen of microtubules. Acetylates only long/old microtubules because of its slow acetylation rate since it does not have time to act on dynamically unstable microtubules before the enzyme is released. Required for normal sperm flagellar function. Promotes directional cell locomotion and chemotaxis, through AP2A2-dependent acetylation of alpha-tubulin at clathrin-coated pits that are concentrated at the leading edge of migrating cells. May facilitate primary cilium assembly.

Enzyme Numbers (IUBMB) for ATAT1 Gene

Gene Ontology (GO) - Molecular Function for ATAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004468 lysine N-acetyltransferase activity, acting on acetyl phosphate as donor TAS --
GO:0016407 acetyltransferase activity IEA --
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
GO:0019799 tubulin N-acetyltransferase activity IMP,IDA 20829795
genes like me logo Genes that share ontologies with ATAT1: view
genes like me logo Genes that share phenotypes with ATAT1: view

Animal Models for ATAT1 Gene

MGI Knock Outs for ATAT1:

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ATAT1

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ATAT1 Gene

Localization for ATAT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATAT1 Gene

Cytoplasm. Membrane, clathrin-coated pit. Cell junction, focal adhesion. Cell projection, axon. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, spindle.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATAT1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
golgi apparatus 4
nucleus 2

Gene Ontology (GO) - Cellular Components for ATAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005794 Golgi apparatus IDA --
GO:0005819 spindle IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with ATAT1: view

Pathways & Interactions for ATAT1 Gene

genes like me logo Genes that share pathways with ATAT1: view

Pathways by source for ATAT1 Gene

Interacting Proteins for ATAT1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000327832%0d%0a9606.ENSP00000377262%0d%0a
Selected Interacting proteins: ENSP00000327832 Q5SQI0-ATAT_HUMAN for ATAT1 Gene via STRING IID

Gene Ontology (GO) - Biological Process for ATAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006996 organelle organization TAS --
GO:0007283 spermatogenesis IEA --
GO:0021542 dentate gyrus development IEA --
GO:0045598 regulation of fat cell differentiation IEA --
GO:0048666 neuron development IEA --
genes like me logo Genes that share ontologies with ATAT1: view

No data available for SIGNOR curated interactions for ATAT1 Gene

Drugs & Compounds for ATAT1 Gene

(1) Drugs for ATAT1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Coenzyme A Nutra 0

(1) Additional Compounds for ATAT1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • Ac-CoA
  • Ac-Coenzyme A
  • Ac-S-CoA
  • Ac-S-Coenzyme A
  • Acetyl coenzyme-A
72-89-9
genes like me logo Genes that share compounds with ATAT1: view

Transcripts for ATAT1 Gene

Unigene Clusters for ATAT1 Gene

Alpha tubulin acetyltransferase 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ATAT1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATAT1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13
SP1: -
SP2: - -
SP3: - - -
SP4:

Relevant External Links for ATAT1 Gene

GeneLoc Exon Structure for
ATAT1
ECgene alternative splicing isoforms for
ATAT1

Expression for ATAT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ATAT1 Gene

Protein differential expression in normal tissues from HIPED for ATAT1 Gene

This gene is overexpressed in Fetal Brain (65.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ATAT1 Gene



Protein tissue co-expression partners for ATAT1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ATAT1 Gene:

ATAT1

SOURCE GeneReport for Unigene cluster for ATAT1 Gene:

Hs.654798
genes like me logo Genes that share expression patterns with ATAT1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ATAT1 Gene

Orthologs for ATAT1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ATAT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATAT1 34 35
  • 97.47 (n)
cow
(Bos Taurus)
Mammalia ATAT1 34 35
  • 89.03 (n)
dog
(Canis familiaris)
Mammalia ATAT1 34 35
  • 88.97 (n)
mouse
(Mus musculus)
Mammalia Atat1 34 16 35
  • 84.98 (n)
rat
(Rattus norvegicus)
Mammalia Atat1 34
  • 84.98 (n)
oppossum
(Monodelphis domestica)
Mammalia ATAT1 35
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATAT1 35
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATAT1 35
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atat1 34
  • 60.44 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.11468 34
zebrafish
(Danio rerio)
Actinopterygii atat1 34 35
  • 58.33 (n)
wufj19c03 34
fruit fly
(Drosophila melanogaster)
Insecta CG17003 35
  • 33 (a)
OneToMany
CG3967 35
  • 25 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mec-17 35
  • 31 (a)
OneToMany
atat-2 35
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 41 (a)
OneToOne
Species where no ortholog for ATAT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ATAT1 Gene

ENSEMBL:
Gene Tree for ATAT1 (if available)
TreeFam:
Gene Tree for ATAT1 (if available)

Paralogs for ATAT1 Gene

(1) SIMAP similar genes for ATAT1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with ATAT1: view

No data available for Paralogs for ATAT1 Gene

Variants for ATAT1 Gene

Sequence variations from dbSNP and Humsavar for ATAT1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1079687 -- 30,640,496(-) AGGGG(C/T)CGGCA intron-variant, upstream-variant-2KB
rs1110445 -- 30,647,123(-) GGGCG(A/G)GGGGG downstream-variant-500B, upstream-variant-2KB, utr-variant-5-prime
rs111505853 -- 30,628,495(+) TATGG(C/T)AAAGA intron-variant
rs111609724 -- 30,626,392(+) CTGGT(A/T)TGCTT upstream-variant-2KB, utr-variant-3-prime
rs111725584 -- 30,629,245(+) TTTTC(-/T)TTTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATAT1 Gene

Variant ID Type Subtype PubMed ID
esv2670269 CNV deletion 23128226
esv2677891 CNV deletion 23128226
esv2731791 CNV deletion 23290073
esv3411275 CNV duplication 20981092
esv3608513 CNV loss 21293372
nsv1074389 CNV deletion 25765185
nsv1122126 CNV deletion 24896259
nsv1144137 CNV deletion 24896259
nsv601264 CNV loss 21841781
nsv601481 CNV loss 21841781
nsv830626 CNV loss 17160897
nsv969376 CNV duplication 23825009

Variation tolerance for ATAT1 Gene

Residual Variation Intolerance Score: 46.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.69; 46.17% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATAT1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATAT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATAT1 Gene

Disorders for ATAT1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ATAT1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
blood coagulation disease
  • postpartum coagulation defect
- elite association - COSMIC cancer census association via MalaCards
Search ATAT1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ATAT1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATAT1
genes like me logo Genes that share disorders with ATAT1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATAT1 Gene

Publications for ATAT1 Gene

  1. MEC-17 is an alpha-tubulin acetyltransferase. (PMID: 20829795) Akella J.S. … Gaertig J. (Nature 2010) 2 3 4 64
  2. Molecular basis for age-dependent microtubule acetylation by tubulin acetyltransferase. (PMID: 24906155) Szyk A. … Roll-Mecak A. (Cell 2014) 3 4 64
  3. alphaTAT1 catalyses microtubule acetylation at clathrin-coated pits. (PMID: 24097348) Montagnac G. … Chavrier P. (Nature 2013) 3 4 64
  4. Structure of the I+-tubulin acetyltransferase, I+TAT1, and implications for tubulin-specific acetylation. (PMID: 23071314) Friedmann D.R. … Marmorstein R. (Proc. Natl. Acad. Sci. U.S.A. 2012) 3 4 64
  5. Atomic resolution structure of human alpha-tubulin acetyltransferase bound to acetyl-CoA. (PMID: 23071318) Taschner M. … Lorentzen E. (Proc. Natl. Acad. Sci. U.S.A. 2012) 3 4 64

Products for ATAT1 Gene

Sources for ATAT1 Gene

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