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    ATAT1 alpha tubulin acetyltransferase 1 [ Homo sapiens (human) ]

    Gene ID: 79969, updated on 27-Nov-2024

    Summary

    Official Symbol
    ATAT1provided by HGNC
    Official Full Name
    alpha tubulin acetyltransferase 1provided by HGNC
    Primary source
    HGNC:HGNC:21186
    See related
    Ensembl:ENSG00000137343 MIM:615556; AllianceGenome:HGNC:21186
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TAT; MEC17; C6orf134; Nbla00487; alpha-TAT; alpha-TAT1
    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 results in multiple transcript variants. [provided by RefSeq, Jan 2016]
    Expression
    Ubiquitous expression in brain (RPKM 7.7), testis (RPKM 3.5) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ATAT1 in Genome Data Viewer
    Location:
    6p21.33
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (30626874..30646821)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (30491055..30511001)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (30594651..30614598)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene protein phosphatase 1 regulatory subunit 10 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:30577096-30578295 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:30585278-30585846 Neighboring gene mitochondrial ribosomal protein S18B Neighboring gene Sharpr-MPRA regulatory region 13793 Neighboring gene prothymosin alpha pseudogene 1 Neighboring gene chromosome 6 open reading frame 136 Neighboring gene DEAH-box helicase 16 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:30638704-30639302 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:30640498-30641094 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:30642736-30642875 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:30649761-30650650 Neighboring gene protein phosphatase 1 regulatory subunit 18 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:30650651-30651540 Neighboring gene nurim

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ13158, DKFZp547J097

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in NLRP3 inflammasome complex assembly IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within alpha-tubulin acetylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in alpha-tubulin acetylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cilium assembly TAS
    Traceable Author Statement
    more info
     
    involved_in dentate gyrus development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in microtubule cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in neuron development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of NLRP3 inflammasome complex assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of fat cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of microtubule cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to mechanical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to pain IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    located_in axon IEA
    Inferred from Electronic Annotation
    more info
     
    located_in clathrin-coated pit IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in focal adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
     
    located_in microtubule bundle IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitotic spindle IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    alpha-tubulin N-acetyltransferase 1
    Names
    acetyltransferase mec-17 homolog
    NP_001026892.1
    NP_001177653.1
    NP_001241881.1
    NP_001305691.1
    NP_001305692.1
    NP_001399996.1
    NP_079185.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001031722.4NP_001026892.1  alpha-tubulin N-acetyltransferase 1 isoform 1

      See identical proteins and their annotated locations for NP_001026892.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest protein (isoform 1).
      Source sequence(s)
      AL662800, BC047303
      Consensus CDS
      CCDS54978.1
      UniProtKB/TrEMBL
      A0A1U9X797
      Related
      ENSP00000327832.5, ENST00000330083.6
      Conserved Domains (2) summary
      pfam05301
      Location:10178
      Acetyltransf_16; GNAT acetyltransferase, Mec-17
      cl27975
      Location:183312
      EBV-NA3; Epstein-Barr virus nuclear antigen 3 (EBNA-3)
    2. NM_001190724.4NP_001177653.1  alpha-tubulin N-acetyltransferase 1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR and 3' coding region, and lacks an internal in-frame exon, compared to variant 1. The encoded isoform (3) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AK297661, AL662800, BC047303
      UniProtKB/TrEMBL
      B7Z4Q7, B7Z5C8
      Conserved Domains (1) summary
      pfam05301
      Location:10178
      Acetyltransf_16; GNAT acetyltransferase, Mec-17
    3. NM_001254952.4NP_001241881.1  alpha-tubulin N-acetyltransferase 1 isoform 4

      See identical proteins and their annotated locations for NP_001241881.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' and 3' UTRs and coding region, and lacks an internal in-frame exon, compared to variant 1. The encoded isoform (4) has distinct N- and C-termini and is shorter than isoform 1.
      Source sequence(s)
      AL662800, BX442806
      Consensus CDS
      CCDS59002.1
      UniProtKB/TrEMBL
      B7Z5C8
      Related
      ENSP00000324459.5, ENST00000319027.9
      Conserved Domains (1) summary
      pfam05301
      Location:10190
      Acetyltransf_16; GNAT acetyltransferase, Mec-17
    4. NM_001318762.3NP_001305691.1  alpha-tubulin N-acetyltransferase 1 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' and 3' UTRs and coding region, and lacks an internal in-frame exon, compared to variant 1. The encoded isoform (5) has distinct N- and C-termini and is shorter than isoform 1.
      Source sequence(s)
      BC006105, BX418089
      Consensus CDS
      CCDS83073.1
      UniProtKB/TrEMBL
      B7Z5C8
      Related
      ENSP00000324222.7, ENST00000318999.11
      Conserved Domains (1) summary
      pfam05301
      Location:79190
      Mec-17; Touch receptor neuron protein Mec-17
    5. NM_001318763.3NP_001305692.1  alpha-tubulin N-acetyltransferase 1 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' and 3' UTRs and coding region compared to variant 1. The encoded isoform (6) has distinct N- and C-termini and is shorter than isoform 1.
      Source sequence(s)
      AB075512, AK023220, AK225107, BC006105, DB090032
      Consensus CDS
      CCDS83072.1
      UniProtKB/TrEMBL
      B7Z5C8
      Related
      ENSP00000365666.4, ENST00000376483.8
      Conserved Domains (2) summary
      PRK14951
      Location:191312
      PRK14951; DNA polymerase III subunits gamma and tau; Provisional
      pfam05301
      Location:10190
      Acetyltransf_16; GNAT acetyltransferase, Mec-17
    6. NM_001413067.1NP_001399996.1  alpha-tubulin N-acetyltransferase 1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL662800
      UniProtKB/Swiss-Prot
      A2AB28, Q3LIB0, Q5JP39, Q5JP40, Q5JP42, Q5SQI0, Q5SQI1, Q5SU03, Q86X42, Q8NDK9, Q9BRS1, Q9H8X5
      Related
      ENSP00000365668.4, ENST00000376485.9
    7. NM_024909.5NP_079185.2  alpha-tubulin N-acetyltransferase 1 isoform 2

      See identical proteins and their annotated locations for NP_079185.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' and 3' UTRs and coding region compared to variant 1. The encoded isoform (2) has distinct N- and C-termini and is shorter than isoform 1.
      Source sequence(s)
      AL535697, AL833858, BX418559, DB090032
      Consensus CDS
      CCDS4683.2
      UniProtKB/TrEMBL
      B7Z5C8
      Related
      ENSP00000332374.8, ENST00000329992.12
      Conserved Domains (2) summary
      PHA03307
      Location:197327
      PHA03307; transcriptional regulator ICP4; Provisional
      pfam05301
      Location:10190
      Acetyltransf_16; GNAT acetyltransferase, Mec-17

    RNA

    1. NR_033823.3 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs 5' terminal exon, lacks an internal exon, and contains an alternate segment in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC025755, CX786272, DB090032
      Related
      ENST00000471782.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      30626874..30646821
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      2106598..2126543
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      1882704..1902650
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.2 Reference GRCh38.p14 ALT_REF_LOCI_4

      Range
      1937103..1957050
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

      Range
      1970922..1990871
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

      Range
      1881962..1901909
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      1927632..1947580
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      30491055..30511001
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)