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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 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. Among its related pathways are Metabolism and Carbon metabolism. 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. Required for normal sperm flagellar function. Promotes microtubule destabilization and accelerates microtubule dynamics; this activity may be independent of acetylation activity. 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

Promoters for ATAT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ATAT1 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for ATAT1 Gene at MOPED

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. Required for normal sperm flagellar function. Promotes microtubule destabilization and accelerates microtubule dynamics; this activity may be independent of acetylation activity. 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

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

In Situ Assay Products

Flow Cytometry Products

No data available for Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for ATAT1 Gene COMPARTMENTS Subcellular localization image for ATAT1 gene
Compartment Confidence
cytoskeleton 2
cytosol 2
nucleus 2

Gene Ontology (GO) - Cellular Components for ATAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005874 microtubule IEA --
GO:0005905 coated pit IEA --
GO:0005925 focal adhesion IEA --
GO:0030424 axon 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

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: Q5SQI0-ATAT_HUMAN ENSP00000327832 for ATAT1 Gene via I2D STRING

Gene Ontology (GO) - Biological Process for ATAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0021542 dentate gyrus development IEA --
GO:0070507 regulation of microtubule cytoskeleton organization IEA,IBA --
GO:0071929 alpha-tubulin acetylation IEA,IDA 23071314
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

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 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



SOURCE GeneReport for Unigene cluster for ATAT1 Gene Hs.654798

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

Protein tissue co-expression partners for ATAT1 Gene

- Elite partner

Primer Products

In Situ Assay 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 36
  • 92 (a)
OneToOne
ATAT1 35
  • 97.47 (n)
  • 96.96 (a)
cow
(Bos Taurus)
Mammalia ATAT1 35
  • 89.03 (n)
  • 89.37 (a)
ATAT1 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATAT1 36
  • 83 (a)
OneToOne
ATAT1 35
  • 88.97 (n)
  • 88.72 (a)
mouse
(Mus musculus)
Mammalia Atat1 36
  • 82 (a)
OneToOne
Atat1 16
Atat1 35
  • 84.98 (n)
  • 87.09 (a)
oppossum
(Monodelphis domestica)
Mammalia ATAT1 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATAT1 36
  • 48 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atat1 35
  • 84.98 (n)
  • 87.85 (a)
lizard
(Anolis carolinensis)
Reptilia ATAT1 36
  • 62 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.11468 35
tropical clawed frog
(Silurana tropicalis)
Amphibia atat1 35
  • 60.44 (n)
  • 57.98 (a)
zebrafish
(Danio rerio)
Actinopterygii atat1 36
  • 41 (a)
OneToOne
atat1 35
  • 58.33 (n)
  • 58.33 (a)
wufj19c03 35
fruit fly
(Drosophila melanogaster)
Insecta CG17003 36
  • 33 (a)
OneToMany
CG3967 36
  • 25 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea atat-2 36
  • 25 (a)
OneToMany
mec-17 36
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
OneToOne
Species with no ortholog for ATAT1:
  • 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
rs2394390 -- 30,634,044(+) ATGGT(C/T)GCCCT intron-variant
rs2534688 -- 30,629,322(-) aggtt(A/G)cagtg intron-variant
rs3214091 -- 30,643,123(+) CCCCC(-/T)CAAGC intron-variant, downstream-variant-500B, utr-variant-3-prime
rs3214092 -- 30,643,122(+) CCCCC(-/C)AAGCC intron-variant, downstream-variant-500B, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
esv2731791 CNV Deletion 23290073
nsv884086 CNV Gain 21882294
esv2670269 CNV Deletion 23128226
nsv830626 CNV Loss 17160897
esv2677891 CNV Deletion 23128226
dgv6526n71 CNV Loss 21882294

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

HapMap Linkage Disequilibrium report
ATAT1

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

Disorders for ATAT1 Gene

Relevant External Links for ATAT1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATAT1

No disorders were found for ATAT1 Gene.

No data available for MalaCards , 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 67
  2. Structural basis of cofactor-mediated stabilization and substrate recognition of the I+-tubulin acetyltransferase I+TAT1. (PMID: 25602620) Yuzawa S. … Sumimoto H. (Biochem. J. 2015) 3
  3. Molecular basis for age-dependent microtubule acetylation by tubulin acetyltransferase. (PMID: 24906155) Szyk A. … Roll-Mecak A. (Cell 2014) 3
  4. Structural and functional characterization of the I+-tubulin acetyltransferase MEC-17. (PMID: 24846647) Davenport A.M. … Hoelz A. (J. Mol. Biol. 2014) 3
  5. The protein interaction landscape of the human CMGC kinase group. (PMID: 23602568) Varjosalo M. … Gstaiger M. (Cell Rep 2013) 3

Products for ATAT1 Gene

Sources for ATAT1 Gene

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