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ATAT1 Gene

protein-coding   GIFtS: 43
GCID: GC06P030610

Alpha Tubulin Acetyltransferase 1

(Previous name: chromosome 6 open reading frame 134)
(Previous symbol: C6orf134)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): antisense

Quality score for the ORGUL clustered with this gene is 3

Aliases
Alpha Tubulin Acetyltransferase 11 2     alpha-TAT2
C6orf1341 2 3 5     alpha-TAT12
MEC172 3 5     Alpha-Tubulin N-Acetyltransferase 12
Acetyltransferase Mec-17 Homolog2 3     Alpha-TAT3
TAT2 3     Alpha-TAT13
Chromosome 6 Open Reading Frame 1341     EC 2.3.1.1083
Nbla004872     

External Ids:    HGNC: 211861   Entrez Gene: 799692   Ensembl: ENSG000001373437   OMIM: 6155565   UniProtKB: Q5SQI03   
ORGUL members:         

Export aliases for ATAT1 gene to outside databases

Previous GC identifers: GC06P030394 GC06P030596 GC06P030598 GC06P030605


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ATAT1 Gene:
ATAT1 (alpha tubulin acetyltransferase 1) is a protein-coding gene. Diseases associated with ATAT1 include neuroblastoma, and systemic lupus erythematosus. GO annotations related to this gene include tubulin N-acetyltransferase activity.

UniProtKB/Swiss-Prot: ATAT_HUMAN, Q5SQI0
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000006.12  NT_007592.16  NT_113891.3  NT_167245.2  NT_167246.2  NT_167247.2  NT_167248.2  NT_167249.2  
NC_018917.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for ATAT1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATAT1 promoter sequence
   Search Chromatin IP Primers for ATAT1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATAT1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.33   Ensembl cytogenetic band:  6p21.33   HGNC cytogenetic band: 6p21.32

ATAT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATAT1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P030610:  view genomic region     (about GC identifiers)

Start:
30,594,613 bp from pter      End:
30,614,600 bp from pter
Size:
19,988 bases      Orientation:
plus strand

6 alternative locations:
Chr6+,NT_167246 1,942,685-1,962,670      Chr6+,NT_167249 1,926,892-1,946,878      Chr6+,NT_113891.2 2,106,666-2,126,649     
Chr6+,NT_167248 1,887,520-1,907,505      Chr6+,NT_167245 1,888,251-1,908,235      Chr6+,NT_167247 1,976,469-1,996,456     
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for ATAT1

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ATAT_HUMAN, Q5SQI0 (See protein sequence)
Recommended Name: Alpha-tubulin N-acetyltransferase 1  
Size: 421 amino acids; 46810 Da
Subunit: 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
5 PDB 3D structures from and Proteopedia for ATAT1:
3VWD (3D)        3VWE (3D)        4B5O (3D)        4B5P (3D)        4GS4 (3D)    
Secondary accessions: A2AB28 Q3LIB0 Q5JP39 Q5JP40 Q5JP42 Q5SQI1 Q5SU03 Q86X42 Q8NDK9 Q9BRS1
Q9H8X5
Alternative splicing: 7 isoforms:  Q5SQI0-1   Q5SQI0-2   Q5SQI0-3   Q5SQI0-4   Q5SQI0-5   Q5SQI0-6   Q5SQI0-7   

Explore the universe of human proteins at neXtProt for ATAT1: NX_Q5SQI0

Explore proteomics data for ATAT1 at MOPED

Post-translational modifications: 

  • Autoacetylation strongly increases tubulin acetylation (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ATAT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001026892.1  NP_001241881.1  NP_079185.2  

    ENSEMBL proteins: 
     ENSP00000324222   ENSP00000365668   ENSP00000324459   ENSP00000365666   ENSP00000332374  
     ENSP00000327832   ENSP00000365661  

    ATAT1 Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

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    LSBio Antibodies in human, mouse, rat for ATAT1

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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR007965 Alpha-TAT
     IPR016181 Acyl_CoA_acyltransferase

    Graphical View of Domain Structure for InterPro Entry Q5SQI0

    ProtoNet protein and cluster: Q5SQI0

    UniProtKB/Swiss-Prot: ATAT_HUMAN, Q5SQI0
    Similarity: Belongs to the acetyltransferase ATAT1 family


    ATAT1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ATAT_HUMAN, Q5SQI0
    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
    Catalytic activity: Acetyl-CoA + [alpha-tubulin]-L-lysine = CoA + [alpha-tubulin]-N(6)-acetyl-L-lysine
    Biophysicochemical properties: Kinetic parameters: KM=2.0 uM for free alpha-tubulin; KM=1.6 uM for polymerized
    tubulin (microtubules); KM=2.2 uM for acetyl-CoA; 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;

         Enzyme Number (IUBMB): EC 2.3.1.1081

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0019799tubulin N-acetyltransferase activity IMP--
         
    ATAT1 for ontologies           About GeneDecksing


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Atat1):
     behavior/neurological  cellular  endocrine/exocrine gland  hematopoietic system  integument 
     mortality/aging  nervous system  normal  reproductive system 

    ATAT1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ATAT1: Atat1tm1(KOMP)Vlcg Atat1tm1.2Phep

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ATAT1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ATAT1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ATAT1

    miRNA
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    miRTarBase miRNAs that target ATAT1:
    hsa-mir-296-3p (MIRT038440), hsa-mir-100-5p (MIRT048434), hsa-mir-26b-5p (MIRT029620)

    Block miRNA regulation of human, mouse, rat ATAT1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ATAT1 (see all 20):
    hsa-miR-200a hsa-miR-1271 hsa-miR-342-3p hsa-miR-3190 hsa-miR-218 hsa-miR-141 hsa-miR-96 hsa-miR-103a-2*
    SwitchGear 3'UTR luciferase reporter plasmidATAT1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ATAT1

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    GenScript: all cDNA clones in your preferred vector (see all 3): ATAT1 (NM_024909)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATAT1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATAT1

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATAT1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ATAT_HUMAN, Q5SQI0: Cytoplasm. Membrane, clathrin-coated pit. Cell junction, focal adhesion. Cell projection,
    axon (By similarity). Cytoplasm, cytoskeleton (By similarity). Cytoplasm, cytoskeleton, spindle (By similarity)

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005819spindle IEA--
    GO:0005905coated pit IEA--
    GO:0005925focal adhesion IEA--
    GO:0030424axon IEA--

    ATAT1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ATAT1
    Interactions:

        Search GeneGlobe Interaction Network for ATAT1

    1 Interacting protein for ATAT1 (Q5SQI03) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAEP622583I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0048666neuron development IEA--
    GO:0070507regulation of microtubule cytoskeleton organization IEA--
    GO:0071929alpha-tubulin acetylation IEA--

    ATAT1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ATAT1 (ATAT)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ATAT1 gene (4 alternative transcripts): 
    NM_001190724.1  NM_001031722.2  NM_001254952.1  NM_024909.2  

    Unigene Cluster for ATAT1:

    Alpha tubulin acetyltransferase 1
    Hs.654798  [show with all ESTs]
    Unigene Representative Sequence: BC006105
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000318999(uc003nqs.4 uc003rdd.3 uc011dmm.2) ENST00000376485
    ENST00000319027 ENST00000376483(uc003nqr.4 uc003rdc.3) ENST00000329992
    ENST00000330083(uc003nqv.3) ENST00000468713 ENST00000493388 ENST00000471782
    ENST00000462304 ENST00000479562 ENST00000376478
    miRNA
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    Block miRNA regulation of human, mouse, rat ATAT1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ATAT1 (see all 20):
    hsa-miR-200a hsa-miR-1271 hsa-miR-342-3p hsa-miR-3190 hsa-miR-218 hsa-miR-141 hsa-miR-96 hsa-miR-103a-2*
    SwitchGear 3'UTR luciferase reporter plasmidATAT1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ATAT1
    Clone
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    OriGene ORF clones in mouse, rat for ATAT1
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    GenScript: all cDNA clones in your preferred vector (see all 3): ATAT1 (NM_024909)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATAT1
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat ATAT1
      QuantiFast Probe-based Assays in human, mouse, rat ATAT1

    Additional mRNA sequence: 

    AB075512.1 AK023220.1 AK225107.1 AK297661.1 AK298743.1 AL833858.1 BC006105.1 BC025755.1 
    BC047303.1 

    18 DOTS entries:

    DT.413615  DT.100821031  DT.121360192  DT.100821034  DT.40130931  DT.100787658  DT.95374643  DT.121360325 
    DT.100821035  DT.121360110  DT.100821037  DT.306663  DT.100845051  DT.121360210  DT.91840920  DT.100821038 
    DT.95374644  DT.100771415 

    Selected AceView cDNA sequences (see all 191):

    CR599754 BI755850 BU633748 BC047303 AI986243 AA443996 AA621265 BX423407 
    BX418560 CD518221 CA450519 CB153544 H49222 BX464159 H20157 CB152020 
    CR615059 CR594590 AI923285 BC025755 AL833858 H20251 Z38159 BU153262 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ATAT1    About this scheme

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


    ECgene alternative splicing isoforms for ATAT1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ATAT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCAGAGTAT
    ATAT1 Expression
    About this image

    ATAT1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATAT1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654798
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATAT1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for ATAT1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atat11 , 5 alpha tubulin acetyltransferase 11, 5 84.98(n)1
    87.09(a)1
      17 (18.75 cM)5
    732421  NM_001142744.11  NP_001136216.11 
     358975955 
    lizard
    (Anolis carolinensis)
    Reptilia ATAT16
    alpha tubulin acetyltransferase 1
    62(a)
    1 ↔ 1
    2(192062443-192097522)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.114682 Xenopus laevis transcribed sequence with weak similarity more 75.27(n)    CA972860.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufj19c032 Danio rerio cDNA clone MGC65893 IMAGE6801405, complete more 70.21(n)    BC056749.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG170036
    CG39676
    --
    33(a)
    25(a)
    1 ↔ many
    1 ↔ many
    X(19895000-19896129)
    3L(9406696-9419777)
    worm
    (Caenorhabditis elegans)
    Secernentea mec-176
    atat-26
    Protein ATAT-2 (atat-2) mRNA, complete cds
    31(a)
    25(a)
    1 ↔ many
    1 ↔ many
    IV(7983862-7987183) WBGene00003178
    X(5849104-5851971) WBGene00021059


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ATAT1 gene
    1 SIMAP similar gene for ATAT1 using alignment to 3 protein entries:     ATAT_HUMAN (see all proteins):
    C6orf134

    ATAT1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ATAT1 (see all 395)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1387757021,2
    C,F--30594703(+) GGAGCG/AGATCA 5 /Q /R mis1 ut511Minor allele frequency- A:0.00NA 4048
    rs1846142481,2
    C--30594779(+) CAGCTC/GAAACC 3 -- int1 ut510--------
    rs38149591,2
    C,F,H--30594827(-) GCCTGG/AACCAG 3 -- int1 ut5111Minor allele frequency- A:0.02NS EA WA 1896
    rs1467365081,2
    --30595207(+) GAGTAC/TCTGAC 3 -- int10--------
    rs561982591,2
    C--30595268(+) CCATTA/GTAGAT 6 I V mis10--------
    rs3766260781,2
    C--30595333(+) GAGGAC/TCTCTG 3 -- int10--------
    rs1883232761,2
    --30595436(+) CCTATC/TACTAG 6 I syn10--------
    rs1402739291,2
    C--30595525(+) TCTTCC/TATCCC 3 -- int10--------
    rs92621251,2
    C,H--30595618(+) TTCCCC/TGTCCT 3 -- int14Minor allele frequency- T:0.00NS EA 420
    rs1393170481,2
    C--30595648(+) CATTAT/CTGGTT 6 /T /I mis11Minor allele frequency- C:0.00NA 4536

    HapMap Linkage Disequilibrium report for ATAT1 (30594613 - 30614600 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for ATAT1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2670269CNV Deletion23128226
    esv2677891CNV Deletion23128226
    esv2731791CNV Deletion23290073
    dgv6526n71CNV Loss21882294
    nsv830626CNV Loss17160897
    nsv884086CNV Gain21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 615556    OMIM disorders: --

    4 diseases for ATAT1:    
    About MalaCards
    neuroblastoma    systemic lupus erythematosus    lupus erythematosus    neuronitis


    ATAT1 for disorders           About GeneDecksing


    Export disorders for ATAT1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ATAT1 gene, integrated from 10 sources (see all 17):
    (articles sorted by number of sources associating them with ATAT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. MEC-17 is an alpha-tubulin acetyltransferase. (PubMed id 20829795)1, 2, 3 Akella J.S.... Gaertig J. (Nature 2010)
    2. alphaTAT1 catalyses microtubule acetylation at clathrin-coated pits. (PubMed id 24097348)1, 2 Montagnac G....Chavrier P. (Nature 2013)
    3. Structure of the I+-tubulin acetyltransferase, I+TAT1, and implications for tubulin-specific acetylation. (PubMed id 23071314)1, 2 Friedmann D.R....Marmorstein R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    4. Atomic resolution structure of human alpha-tubulin acetyltransferase bound to acetyl-CoA. (PubMed id 23071318)1, 2 Taschner M.... Lorentzen E. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    7. The protein interaction landscape of the human CMGC kinase group. (PubMed id 23602568)1 Varjosalo M....Gstaiger M. (Cell Rep 2013)
    8. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    9. The major alpha-tubulin K40 acetyltransferase alphaTAT1 promotes rapid ciliogenesis and efficient mechanosensation. (PubMed id 21068373)2 Shida T.... Nachury M.V. (Proc. Natl. Acad. Sci. U.S.A. 2010)
    10. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PubMed id 19851445)1 Barcellos L.F....Criswell L.A. (PLoS Genet. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 79969 HGNC: 21186 AceView: C6orf134 Ensembl:ENSG00000137343 euGenes: HUgn79969
    ECgene: ATAT1 H-InvDB: ATAT1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ATAT1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for ATAT1 gene:
    Search GeneIP for patents involving ATAT1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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