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NAA80 N(alpha)-acetyltransferase 80, NatH catalytic subunit [ Homo sapiens (human) ]

Gene ID: 24142, updated on 3-Oct-2018

Summary

Official Symbol
NAA80provided by HGNC
Official Full Name
N(alpha)-acetyltransferase 80, NatH catalytic subunitprovided by HGNC
Primary source
HGNC:HGNC:30252
See related
Ensembl:ENSG00000243477 MIM:607073; Vega:OTTHUMG00000156939
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
FUS2; NAT6; FUS-2
Summary
This gene encodes a member of the N-acetyltransferase family. N-acetyltransferases modify proteins by transferring acetyl groups from acetyl CoA to the N-termini of protein substrates. The encoded protein is a cytoplasmic N-acetyltransferase with a substrate specificity for proteins with an N-terminal methionine. This gene is located in the tumor suppressor gene region on chromosome 3p21.3 and the encoded protein may play a role in cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed. This gene overlaps and is on the same strand as hyaluronoglucosaminidase 3, and some transcripts of each gene share a portion of the first exon. [provided by RefSeq, Jan 2011]
Expression
Broad expression in testis (RPKM 16.6), bone marrow (RPKM 8.4) and 24 other tissues See more
Orthologs

Genomic context

See NAA80 in Genome Data Viewer
Location:
3p21.31
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (50296402..50299421, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (50333833..50336852, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene semaphorin 3B Neighboring gene microRNA 6872 Neighboring gene leucine rich single-pass membrane protein 2 Neighboring gene interferon related developmental regulator 2 Neighboring gene hyaluronidase 3 Neighboring gene hyaluronidase 1 Neighboring gene hyaluronidase 2

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
N-acetyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
N-acetyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
acetyl-CoA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acetyl-CoA binding IDA
Inferred from Direct Assay
more info
PubMed 
peptide alpha-N-acetyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
N-terminal peptidyl-aspartic acid acetylation IDA
Inferred from Direct Assay
more info
PubMed 
N-terminal peptidyl-glutamic acid acetylation IDA
Inferred from Direct Assay
more info
PubMed 
actin modification IDA
Inferred from Direct Assay
more info
PubMed 
protein acetylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein acetylation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of actin polymerization or depolymerization IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
N-acetyltransferase 6
Names
N-acetyltransferase 6 (GCN5-related)
protein fusion-2
NP_001186945.1
NP_001186947.1
NP_036323.2

NCBI Reference Sequences (RefSeq)

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_001200016.1NP_001186945.1  N-acetyltransferase 6 isoform 2

    See identical proteins and their annotated locations for NP_001186945.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate splice site in the 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1. Variants 2 and 3 encode the same protein.
    Source sequence(s)
    AK313803, BM989194
    Consensus CDS
    CCDS56258.1
    UniProtKB/Swiss-Prot
    Q93015
    UniProtKB/TrEMBL
    Q6IAP1
    Related
    ENSP00000410610.2, OTTHUMP00000211057, ENST00000443094.2, OTTHUMT00000346680
    Conserved Domains (1) summary
    pfam00583
    Location:119189
    Acetyltransf_1; Acetyltransferase (GNAT) family
  2. NM_001200018.1NP_001186947.1  N-acetyltransferase 6 isoform 2

    See identical proteins and their annotated locations for NP_001186947.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1. Variants 2 and 3 encode the same protein.
    Source sequence(s)
    AF040706, BC004483, BM147777
    Consensus CDS
    CCDS56258.1
    UniProtKB/Swiss-Prot
    Q93015
    UniProtKB/TrEMBL
    Q6IAP1
    Related
    ENSP00000391893.1, OTTHUMP00000211061, ENST00000417393.1, OTTHUMT00000346684
    Conserved Domains (1) summary
    pfam00583
    Location:119189
    Acetyltransf_1; Acetyltransferase (GNAT) family
  3. NM_012191.3NP_036323.2  N-acetyltransferase 6 isoform 1

    See identical proteins and their annotated locations for NP_036323.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AK313803, BC004483
    Consensus CDS
    CCDS43095.1
    UniProtKB/Swiss-Prot
    Q93015
    UniProtKB/TrEMBL
    Q6IAP1
    Related
    ENSP00000346927.4, OTTHUMP00000211060, ENST00000354862.4, OTTHUMT00000346683
    Conserved Domains (1) summary
    pfam00583
    Location:141211
    Acetyltransf_1; Acetyltransferase (GNAT) family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    50296402..50299421 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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