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SETD3 SET domain containing 3, actin histidine methyltransferase [ Homo sapiens (human) ]

Gene ID: 84193, updated on 22-Jan-2023

Summary

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Official Symbol
SETD3provided by HGNC
Official Full Name
SET domain containing 3, actin histidine methyltransferaseprovided by HGNC
Primary source
HGNC:HGNC:20493
See related
Ensembl:ENSG00000183576 MIM:615671; AllianceGenome:HGNC:20493
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
hSETD3; C14orf154
Summary
Enables protein-L-histidine N-tele-methyltransferase activity. Involved in actin modification and peptidyl-histidine methylation. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 33.6), kidney (RPKM 26.5) and 25 other tissues See more
Orthologs
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Genomic context

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See SETD3 in Genome Data Viewer
Location:
14q32.2
Exon count:
19
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (99397748..99486458, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (93629309..93712429, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (99864085..99947196, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370660 Neighboring gene Sharpr-MPRA regulatory region 7827 Neighboring gene RNA, U6 small nuclear 91, pseudogene Neighboring gene cyclin K Neighboring gene coiled-coil domain containing 85C Neighboring gene uncharacterized LOC105370661 Neighboring gene HNF4 motif-containing MPRA enhancer 184

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
  • 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. Proteolytic Activities of Enterovirus 2A Do Not Depend on Its Interaction with SETD3. Yang X, et al. Viruses, 2022 Jun 22. PMID 35891342, Free PMC Article
  2. Importance of Ile71 in β-actin on histidine methyltransferase SETD3 catalysis. Bilgin N, et al. Org Biomol Chem, 2022 Feb 23. PMID 35142326
  3. The methyltransferase SETD3-mediated histidine methylation: Biological functions and potential implications in cancers. Shu WJ, et al. Biochim Biophys Acta Rev Cancer, 2021 Jan. PMID 33157163
  4. Characterization of SETD3 methyltransferase-mediated protein methionine methylation. Dai S, et al. J Biol Chem, 2020 Aug 7. PMID 32503840, Free PMC Article
  5. SETD3 acts as a prognostic marker in breast cancer patients and modulates the viability and invasion of breast cancer cells. Hassan N, et al. Sci Rep, 2020 Feb 10. PMID 32042016, Free PMC Article

See all (45) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CircSETD3 mediates acquired resistance to gefitinib in non-small lung cancer cells by FXR1/ECT2 pathway.
    Title: CircSETD3 mediates acquired resistance to gefitinib in non-small lung cancer cells by FXR1/ECT2 pathway.
  2. Structure-function conservation between the methyltransferases SETD3 and SETD6.
    Title: Structure-function conservation between the methyltransferases SETD3 and SETD6.
  3. Proteolytic Activities of Enterovirus 2A Do Not Depend on Its Interaction with SETD3.
    Title: Proteolytic Activities of Enterovirus 2A Do Not Depend on Its Interaction with SETD3.
  4. Importance of Ile71 in beta-actin on histidine methyltransferase SETD3 catalysis.
    Title: Importance of Ile71 in β-actin on histidine methyltransferase SETD3 catalysis.
  5. Stabilization of SETD3 by deubiquitinase USP27 enhances cell proliferation and hepatocellular carcinoma progression.
    Title: Stabilization of SETD3 by deubiquitinase USP27 enhances cell proliferation and hepatocellular carcinoma progression.
  6. The methyltransferase SETD3-mediated histidine methylation: Biological functions and potential implications in cancers.
    Title: The methyltransferase SETD3-mediated histidine methylation: Biological functions and potential implications in cancers.
  7. Characterization of SETD3 methyltransferase-mediated protein methionine methylation.
    Title: Characterization of SETD3 methyltransferase-mediated protein methionine methylation.
  8. SETD3 acts as a prognostic marker in breast cancer patients and modulates the viability and invasion of breast cancer cells.
    Title: SETD3 acts as a prognostic marker in breast cancer patients and modulates the viability and invasion of breast cancer cells.
  9. An engineered variant of SETD3 methyltransferase alters target specificity from histidine to lysine methylation.
    Title: An engineered variant of SETD3 methyltransferase alters target specificity from histidine to lysine methylation.
  10. Findings indicate that SET domain protein 3 (SETD3) down-regulated the expression of kinesin light chain 4 (KLC4), contributing to the radiosensitivity of cervical cancer cells, suggesting targeting SETD3 might be a potential strategy for the clinical management of cervical cancer.
    Title: SETD3 reduces KLC4 expression to improve the sensitization of cervical cancer cell to radiotherapy.
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)

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

  • FLJ23027, MGC87236, DKFZp761E1415

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA polymerase II-specific DNA-binding transcription factor binding IEA
Inferred from Electronic Annotation
more info
  
enables actin binding IEA
Inferred from Electronic Annotation
more info
  
enables histone H3K36 methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables histone H3K36 methyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables histone H3K4 methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein-L-histidine N-tele-methyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
NOT enables protein-lysine N-methyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables transcription coactivator activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables transcription coactivator activity ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in actin modification IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in histone modification IEA
Inferred from Electronic Annotation
more info
  
involved_in peptidyl-histidine methylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in peptidyl-lysine dimethylation IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in peptidyl-lysine monomethylation IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
NOT involved_in peptidyl-lysine trimethylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of DNA-templated transcription ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in regulation of uterine smooth muscle contraction ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in chromatin IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
actin-histidine N-methyltransferase
Names
SET domain-containing protein 3
histone-lysine N-methyltransferase setd3
protein-L-histidine N-tele-methyltransferase
NP_115609.2
NP_954574.1
XP_011535533.2
XP_011535534.1
XP_011535535.1
XP_011535537.1
XP_016877188.1
XP_016877189.1
XP_047287761.1

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_032233.3 → NP_115609.2  actin-histidine N-methyltransferase isoform a

    See identical proteins and their annotated locations for NP_115609.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AK026680, BC037395, BX161471, CB988965
    Consensus CDS
    CCDS9951.1
    UniProtKB/Swiss-Prot
    Q86TU7, Q9H5U5
    UniProtKB/TrEMBL
    A0A024R6K3
    Related
    ENSP00000327436.5, ENST00000331768.10
    Conserved Domains (2) summary
    cd19176
    Location:80 → 329
    SET_SETD3; SET domain found in SET domain-containing protein 3 (SETD3) and similar proteins
    pfam09273
    Location:350 → 475
    Rubis-subs-bind; Rubisco LSMT substrate-binding

  2. NM_199123.2 → NP_954574.1  actin-histidine N-methyltransferase isoform b

    See identical proteins and their annotated locations for NP_954574.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1, that causes a frameshift. The resulting isoform (b) is shorter and has a unique C-terminus compared to isoform a.
    Source sequence(s)
    BC009054, CB988965
    Consensus CDS
    CCDS9952.1
    UniProtKB/Swiss-Prot
    Q86TU7
    Related
    ENSP00000327910.3, ENST00000329331.7
    Conserved Domains (1) summary
    cd19176
    Location:80 → 282
    SET_SETD3; SET domain found in SET domain-containing protein 3 (SETD3) and similar proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    99397748..99486458 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017021699.2 → XP_016877188.1  actin-histidine N-methyltransferase isoform X1

    UniProtKB/Swiss-Prot
    Q86TU7, Q9H5U5
    UniProtKB/TrEMBL
    A0A024R6K3
    Conserved Domains (2) summary
    cd19176
    Location:80 → 329
    SET_SETD3; SET domain found in SET domain-containing protein 3 (SETD3) and similar proteins
    pfam09273
    Location:350 → 475
    Rubis-subs-bind; Rubisco LSMT substrate-binding

  2. XM_011537233.3 → XP_011535535.1  actin-histidine N-methyltransferase isoform X2

    Conserved Domains (2) summary
    pfam09273
    Location:292 → 417
    Rubis-subs-bind; Rubisco LSMT substrate-binding
    cd19176
    Location:80 → 271
    SET_SETD3; SET domain found in SET domain-containing protein 3 (SETD3) and similar proteins

  3. XM_011537231.3 → XP_011535533.2  actin-histidine N-methyltransferase isoform X1

    UniProtKB/Swiss-Prot
    Q86TU7, Q9H5U5
    UniProtKB/TrEMBL
    A0A024R6K3
    Conserved Domains (2) summary
    cd19176
    Location:80 → 329
    SET_SETD3; SET domain found in SET domain-containing protein 3 (SETD3) and similar proteins
    pfam09273
    Location:350 → 475
    Rubis-subs-bind; Rubisco LSMT substrate-binding

  4. XM_011537232.4 → XP_011535534.1  actin-histidine N-methyltransferase isoform X1

    See identical proteins and their annotated locations for XP_011535534.1

    UniProtKB/Swiss-Prot
    Q86TU7, Q9H5U5
    UniProtKB/TrEMBL
    A0A024R6K3
    Conserved Domains (2) summary
    cd19176
    Location:80 → 329
    SET_SETD3; SET domain found in SET domain-containing protein 3 (SETD3) and similar proteins
    pfam09273
    Location:350 → 475
    Rubis-subs-bind; Rubisco LSMT substrate-binding

  5. XM_047431805.1 → XP_047287761.1  actin-histidine N-methyltransferase isoform X1

    UniProtKB/Swiss-Prot
    Q9H5U5
    UniProtKB/TrEMBL
    A0A024R6K3

  6. XM_017021700.2 → XP_016877189.1  actin-histidine N-methyltransferase isoform X1

    UniProtKB/Swiss-Prot
    Q86TU7, Q9H5U5
    UniProtKB/TrEMBL
    A0A024R6K3
    Conserved Domains (2) summary
    cd19176
    Location:80 → 329
    SET_SETD3; SET domain found in SET domain-containing protein 3 (SETD3) and similar proteins
    pfam09273
    Location:350 → 475
    Rubis-subs-bind; Rubisco LSMT substrate-binding

  7. XM_011537235.1 → XP_011535537.1  actin-histidine N-methyltransferase isoform X3

    See identical proteins and their annotated locations for XP_011535537.1

    UniProtKB/Swiss-Prot
    Q86TU7
    Conserved Domains (1) summary
    cd19176
    Location:80 → 282
    SET_SETD3; SET domain found in SET domain-containing protein 3 (SETD3) and similar proteins

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    93629309..93712429 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86TU7.1 GenPept UniProtKB/Swiss-Prot:Q86TU7

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