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    NAA38 N-alpha-acetyltransferase 38, NatC auxiliary subunit [ Homo sapiens (human) ]

    Gene ID: 84316, updated on 2-Nov-2024

    Summary

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    Official Symbol
    NAA38provided by HGNC
    Official Full Name
    N-alpha-acetyltransferase 38, NatC auxiliary subunitprovided by HGNC
    Primary source
    HGNC:HGNC:28212
    See related
    Ensembl:ENSG00000183011 MIM:617990; AllianceGenome:HGNC:28212
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LSMD1; MAK31; PFAAP2
    Summary
    Predicted to enable RNA binding activity. Involved in negative regulation of apoptotic process. Located in cytoplasm and nucleoplasm. Part of NatC complex. [provided by Alliance of Genome Resources, Nov 2024]
    Annotation information
    Note: The name of this locus was changed from LSMD1 to NAA38 by the HUGO Gene Nomenclature Committee. [23 Jan 2014]
    Expression
    Ubiquitous expression in testis (RPKM 15.5), prostate (RPKM 11.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NAA38 in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (7856685..7885420, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (7762011..7790803, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7760003..7788738, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene lysine demethylase 6B Neighboring gene uncharacterized LOC107987244 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr17:7754177-7755141 and GRCh37_chr17:7755142-7756105 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7756106-7757070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7759303-7759840 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11650 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:7760574-7761436 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:7761437-7762298 Neighboring gene transmembrane protein 88 Neighboring gene cytochrome b5 domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8146 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11653 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8147 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7792539-7793108 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:7797066-7798265 Neighboring gene chromodomain helicase DNA binding protein 3 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:7806009-7806616 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:7806617-7807223 Neighboring gene small Cajal body-specific RNA 21 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7818325-7819258 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8148 Neighboring gene ring finger protein 227

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Molecular role of NAA38 in thermostability and catalytic activity of the human NatC N-terminal acetyltransferase. Deng S, et al. Structure, 2023 Feb 2. PMID 36638802, Free PMC Article
    2. Embryonic growth-associated protein is one subunit of a novel N-terminal acetyltransferase complex essential for embryonic vascular development. Wenzlau JM, et al. Circ Res, 2006 Mar 31. PMID 16484612
    3. N-terminal acetylation shields proteins from degradation and promotes age-dependent motility and longevity. Varland S, et al. Nat Commun, 2023 Oct 27. PMID 37891180, Free PMC Article
    4. Knockdown of human N alpha-terminal acetyltransferase complex C leads to p53-dependent apoptosis and aberrant human Arl8b localization. Starheim KK, et al. Mol Cell Biol, 2009 Jul. PMID 19398576, Free PMC Article
    5. A synopsis of eukaryotic Nalpha-terminal acetyltransferases: nomenclature, subunits and substrates. Polevoda B, et al. BMC Proc, 2009 Aug 4. PMID 19660095, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Molecular role of NAA38 in thermostability and catalytic activity of the human NatC N-terminal acetyltransferase.
      Title: Molecular role of NAA38 in thermostability and catalytic activity of the human NatC N-terminal acetyltransferase.
    Submit: New GeneRIF Correction

    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)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC14151, MGC74837

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of NatC complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of NatC complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    N-alpha-acetyltransferase 38, NatC auxiliary subunit
    Names
    LSM domain containing 1
    LSM domain-containing protein 1
    phosphonoformate immuno-associated protein 2

    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)

    1. NM_001320924.3 → NP_001307853.1  N-alpha-acetyltransferase 38, NatC auxiliary subunit isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC104581
      Consensus CDS
      CCDS82059.1
      UniProtKB/TrEMBL
      I3L3Z2
      Related
      ENSP00000460841.2, ENST00000575071.5
      Conserved Domains (1) summary
      cd06168
      Location:42 → 125
      LSMD1; LSM domain containing 1

    2. NM_001320925.4 → NP_001307854.1  N-alpha-acetyltransferase 38, NatC auxiliary subunit isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC104581
      Consensus CDS
      CCDS82060.1
      UniProtKB/Swiss-Prot
      Q8N4M0, Q9BRA0
      Related
      ENSP00000460172.2, ENST00000575771.6
      Conserved Domains (1) summary
      cd06168
      Location:42 → 115
      LSMD1; LSM domain containing 1

    3. NM_001330111.2 → NP_001317040.1  N-alpha-acetyltransferase 38, NatC auxiliary subunit isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region compared to variant 1. The encoded isoform (4) has a shorter and distinct N-terminus and lacks a predicted signal peptide compared to isoform 1.
      Source sequence(s)
      AC104581, BM817770, BU941699, HY017333
      Consensus CDS
      CCDS82062.1
      UniProtKB/TrEMBL
      I3L4V0
      Related
      ENSP00000461545.1, ENST00000576861.5

    4. NM_032356.6 → NP_115732.2  N-alpha-acetyltransferase 38, NatC auxiliary subunit isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      BC033861
      Consensus CDS
      CCDS11122.1
      UniProtKB/Swiss-Prot
      Q9BRA0
      Related
      ENSP00000332103.5, ENST00000333775.9
      Conserved Domains (1) summary
      cd06168
      Location:90 → 163
      LSMD1; LSM domain containing 1

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      7856685..7885420 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      7762011..7790803 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BRA0.1 GenPept UniProtKB/Swiss-Prot:Q9BRA0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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