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

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: mouse all
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Genomic context

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_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Genetic disruption of ATAT1 causes RhoA downregulation through abnormal truncation of C/EBPbeta.
Title: Genetic disruption of ATAT1 causes RhoA downregulation through abnormal truncation of C/EBPβ.
The alpha-tubulin acetyltransferase ATAT1: structure, cellular functions, and its emerging role in human diseases.
Title: The α-tubulin acetyltransferase ATAT1: structure, cellular functions, and its emerging role in human diseases.
alphaTAT1-induced tubulin acetylation promotes ameloblastoma migration and invasion.
Title: αTAT1-induced tubulin acetylation promotes ameloblastoma migration and invasion.
Microtubule Acetylation Controls MDA-MB-231 Breast Cancer Cell Invasion through the Modulation of Endoplasmic Reticulum Stress.
Title: Microtubule Acetylation Controls MDA-MB-231 Breast Cancer Cell Invasion through the Modulation of Endoplasmic Reticulum Stress.
The interactions of GCN5L1, RanBP2 and alphaTAT1 function in concert to control alpha-tubulin acetylation and may contribute towards the regulation of cellular lysosome positioning.
Title: GCN5L1 interacts with αTAT1 and RanBP2 to regulate hepatic α-tubulin acetylation and lysosome trafficking.
the actin-MRTF-SRF circuit controls alpha-TAT1 transcription. INF2 regulates the circuit, and hence microtubule acetylation, in cell types where it has a prominent role in actin polymerization.
Title: The actin-MRTF-SRF transcriptional circuit controls tubulin acetylation via α-TAT1 gene expression.
The specific distributions of ATAT1 through the cell cycle in fibroblasts suggest multiple functions of ATAT1, which could include acetylation of microtubules, RNA transcription activity, severing microtubules, and completion of cytokinesis.
Title: Dynamic localization of α-tubulin acetyltransferase ATAT1 through the cell cycle in human fibroblastic KD cells.
these results demonstrate alphaTAT1 enters the lumen of microtubules from open extremities and spreads K40 acetylation marks longitudinally along cellular microtubules; this mode of tip-directed microtubule acetylation may allow for selective acetylation of subsets of microtubules
Title: αTAT1 controls longitudinal spreading of acetylation marks from open microtubules extremities.
Depletion of the tubulin acetyltransferase TAT1 led to a significant increase in the frequency of microtubule breakage.
Title: Microtubules acquire resistance from mechanical breakage through intralumenal acetylation.
cellular quiescence induces Mec17 to couple the production of acetylated microtubules and Myh10, whose accumulation overcomes the inhibitory role of Myh9 and initiates ciliogenesis
Title: A Mec17-Myosin II Effector Axis Coordinates Microtubule Acetylation and Actin Dynamics to Control Primary Cilium Biogenesis.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH102456 (e-PCR)
- UniSTS:96790

RH8148 (e-PCR)
- UniSTS:85038

D6S1149E (e-PCR)
- UniSTS:77923

SHGC-172547 (e-PCR)
- UniSTS:184450

NoName (e-PCR)
- UniSTS:146572

RH68972 (e-PCR)
- UniSTS:13969

RH98618 (e-PCR)
- UniSTS:89549

C4_2_25 (e-PCR)
- UniSTS:239088

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables lysine N-acetyltransferase activity, acting on acetyl phosphate as donor	EXP Inferred from Experiment more info	PubMed
enables lysine N-acetyltransferase activity, acting on acetyl phosphate as donor	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables tubulin N-acetyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables tubulin N-acetyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables tubulin N-acetyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed

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

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Preferred Names: alpha-tubulin N-acetyltransferase 1

Names: acetyltransferase mec-17 homolog

NP_001026892.1

EC 2.3.1.108

NP_001177653.1

EC 2.3.1.108

NP_001241881.1

EC 2.3.1.108

NP_001305691.1

EC 2.3.1.108

NP_001305692.1

EC 2.3.1.108

NP_001399996.1

EC 2.3.1.108

NP_079185.2

EC 2.3.1.108

NCBI Reference Sequences (RefSeq)

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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)

NM_001031722.4 → NP_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:10 → 178

Acetyltransf_16; GNAT acetyltransferase, Mec-17

cl27975
Location:183 → 312

EBV-NA3; Epstein-Barr virus nuclear antigen 3 (EBNA-3)
NM_001190724.4 → NP_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:10 → 178

Acetyltransf_16; GNAT acetyltransferase, Mec-17
NM_001254952.4 → NP_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:10 → 190

Acetyltransf_16; GNAT acetyltransferase, Mec-17
NM_001318762.3 → NP_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:79 → 190

Mec-17; Touch receptor neuron protein Mec-17
NM_001318763.3 → NP_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:191 → 312

PRK14951; DNA polymerase III subunits gamma and tau; Provisional

pfam05301
Location:10 → 190

Acetyltransf_16; GNAT acetyltransferase, Mec-17
NM_001413067.1 → NP_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
NM_024909.5 → NP_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:197 → 327

PHA03307; transcriptional regulator ICP4; Provisional

pfam05301
Location:10 → 190

Acetyltransf_16; GNAT acetyltransferase, Mec-17

RNA

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