U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    SETDB1 SET domain bifurcated histone lysine methyltransferase 1 [ Homo sapiens (human) ]

    Gene ID: 9869, updated on 10-Dec-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    SETDB1provided by HGNC
    Official Full Name
    SET domain bifurcated histone lysine methyltransferase 1provided by HGNC
    Primary source
    HGNC:HGNC:10761
    See related
    Ensembl:ENSG00000143379 MIM:604396; AllianceGenome:HGNC:10761
    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
    ESET; KG1T; KMT1E; TDRD21; H3-K9-HMTase4
    Summary
    This gene encodes a histone methyltransferase which regulates histone methylation, gene silencing, and transcriptional repression. This gene has been identified as a target for treatment in Huntington Disease, given that gene silencing and transcription dysfunction likely play a role in the disease pathogenesis. Alternatively spliced transcript variants of this gene have been described.[provided by RefSeq, Jun 2011]
    Expression
    Ubiquitous expression in testis (RPKM 14.6), spleen (RPKM 8.9) and 25 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See SETDB1 in Genome Data Viewer
    Location:
    1q21.3
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (150926263..150964737)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (150049948..150088436)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (150898739..150937213)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985204 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150856806 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150858571 Neighboring gene RPS27A pseudogene 6 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150864113 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150864992 Neighboring gene cortexin domain containing 2 Neighboring gene CYCS pseudogene 51 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150887442 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150889489 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150889877 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150891209 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150903234 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150907955 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150908639 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150910911 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150913142 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150916657 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150922512 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150937329 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150937964 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150945529-150946460 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150946490 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1307 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1308 Neighboring gene ceramide synthase 2 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr1:150949461-150949964 and GRCh37_chr1:150949965-150950466 Neighboring gene uncharacterized LOC105371438 Neighboring gene annexin A9

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Network Inference Analysis Identifies SETDB1 as a Key Regulator for Reverting Colorectal Cancer Cells into Differentiated Normal-Like Cells. Lee S, et al. Mol Cancer Res, 2020 Jan. PMID 31896605
    2. Dysregulation of the epigenetic regulator SETDB1 in liver carcinogenesis-more than one way to skin a cat. Longerich T. Chin Clin Oncol, 2016 Dec. PMID 27164857
    3. Ubiquitination of Lysine 867 of the Human SETDB1 Protein Upregulates Its Histone H3 Lysine 9 (H3K9) Methyltransferase Activity. Ishimoto K, et al. PLoS One, 2016. PMID 27798683, Free PMC Article
    4. Significance of histone methyltransferase SETDB1 expression in colon adenocarcinoma. Ho YJ, et al. APMIS, 2017 Nov. PMID 28913972
    5. H3K14ac is linked to methylation of H3K9 by the triple Tudor domain of SETDB1. Jurkowska RZ, et al. Nat Commun, 2017 Dec 12. PMID 29234025, Free PMC Article

    See all (189) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SETDB1 targeting SESN2 regulates mitochondrial damage and oxidative stress in renal ischemia-reperfusion injury.
      Title: SETDB1 targeting SESN2 regulates mitochondrial damage and oxidative stress in renal ischemia-reperfusion injury.
    2. SETDB1 deletion causes DNA demethylation and upregulation of multiple zinc-finger genes.
      Title: SETDB1 deletion causes DNA demethylation and upregulation of multiple zinc-finger genes.
    3. [Downregulation of SETDB1 suppresses epithelial mesenchymal transition and invasion and metastasis in oral cancer via SOX7 methylation].
      Title: [Downregulation of SETDB1 suppresses epithelial mesenchymal transition and invasion and metastasis in oral cancer via SOX7 methylation].
    4. Structural evidence for protein-protein interaction between the non-canonical methyl-CpG-binding domain of SETDB proteins and C11orf46.
      Title: Structural evidence for protein-protein interaction between the non-canonical methyl-CpG-binding domain of SETDB proteins and C11orf46.
    5. SETDB1 promotes progression through upregulation of SF3B4 expression and regulates the immunity in ovarian cancer.
      Title: SETDB1 promotes progression through upregulation of SF3B4 expression and regulates the immunity in ovarian cancer.
    6. Cytoplasmic localization of SETDB1-induced Warburg effect via c-MYC-LDHA axis enhances migration and invasion in breast carcinoma.
      Title: Cytoplasmic localization of SETDB1‑induced Warburg effect via c‑MYC‑LDHA axis enhances migration and invasion in breast carcinoma.
    7. Hyperglycaemia aggravates periodontal inflamm-aging by promoting SETDB1-mediated LINE-1 de-repression in macrophages.
      Title: Hyperglycaemia aggravates periodontal inflamm-aging by promoting SETDB1-mediated LINE-1 de-repression in macrophages.
    8. [Histone methyltransferases and regenerative myogenesis: A focus on SETDB1].
      Title: [Histone methyltransferases and regenerative myogenesis: A focus on SETDB1].
    9. Evidence of a synthetic lethality interaction between SETDB1 histone methyltransferase and CHD4 chromatin remodeling protein in a triple negative breast cancer cell line.
      Title: Evidence of a synthetic lethality interaction between SETDB1 histone methyltransferase and CHD4 chromatin remodeling protein in a triple negative breast cancer cell line.
    10. SETDB1: A perspective into immune cell function and cancer immunotherapy.
      Title: SETDB1: A perspective into immune cell function and cancer immunotherapy.
    Submit: New GeneRIF Correction See all GeneRIFs (101)

    Phenotypes

    Go to the top of the page Help

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

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3.
    EBI GWAS Catalog
    New loci associated with kidney function and chronic kidney disease.
    EBI GWAS Catalog

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

    Go to the top of the page Help

    Replication interactions

    Interaction Pubs
    Knockdown of SET domain, bifurcated 1 (SETDB1) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat associates with and is methylated at lysine's 50 and 51 by SETDB1. SETDB1 knockdown increases the transactivation of the HIV-1 LTR PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Go to the top of the page

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Clone Names

    • KIAA0067

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables histone H3 methyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables histone H3K9 methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables histone H3K9 methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables histone H3K9 monomethyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3K9 trimethyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables histone H3K9me2 methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables promoter-specific chromatin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA methylation-dependent constitutive heterochromatin formation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in heterochromatin organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in methylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of gene expression IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in transposable element silencing by heterochromatin formation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in transposable element silencing by heterochromatin formation TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

    Go to the top of the page Help
    Preferred Names
    histone-lysine N-methyltransferase SETDB1
    Names
    ERG-associated protein with a SET domain, ESET
    SET domain bifurcated 1
    histone H3-K9 methyltransferase 4
    histone-lysine N-methyltransferase, H3lysine-9 specific 4
    lysine N-methyltransferase 1E
    tudor domain containing 21
    NP_001138887.1
    NP_001230420.1
    NP_001353346.1
    NP_001353347.1
    NP_001380887.1
    NP_001380888.1
    NP_001380889.1
    NP_001380890.1
    NP_001380893.1
    NP_001380894.1
    NP_001380895.1
    NP_001380896.1
    NP_001380897.1
    NP_036564.3
    XP_047291523.1
    XP_047291529.1
    XP_047291535.1
    XP_047291538.1
    XP_047291542.1
    XP_047291543.1
    XP_054195850.1
    XP_054195851.1
    XP_054195852.1
    XP_054195853.1
    XP_054195854.1
    XP_054195855.1

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    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_001145415.2 → NP_001138887.1  histone-lysine N-methyltransferase SETDB1 isoform 1

      See identical proteins and their annotated locations for NP_001138887.1

      Status: REVIEWED

      Source sequence(s)
      AI582266, D31891, DA418593
      Consensus CDS
      CCDS44217.1
      UniProtKB/Swiss-Prot
      A6NEW2, Q15047, Q5SZD8, Q5SZD9, Q5SZE0, Q5SZE7, Q96GM9
      UniProtKB/TrEMBL
      E9PRF4
      Related
      ENSP00000271640.5, ENST00000271640.9
      Conserved Domains (6) summary
      smart00391
      Location:597 → 672
      MBD; Methyl-CpG binding domain
      cd10517
      Location:674 → 875
      SET_SETDB1; SET domain (including pre-SET and post-SET domains) found in SET domain bifurcated 1 (SETDB1) and similar proteins
      cl40432
      Location:1202 → 1291
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily
      pfam18300
      Location:193 → 250
      DUF5604; Domain of unknown function (DUF5604)
      cd20382
      Location:260 → 341
      Tudor_SETDB1_rpt1; first Tudor domain found in SET domain bifurcated 1 (SETDB1) and similar proteins
      cd21181
      Location:348 → 401
      Tudor_SETDB1_rpt2; second Tudor domain found in SET domain bifurcated 1 (SETDB1) and similar proteins

    2. NM_001243491.2 → NP_001230420.1  histone-lysine N-methyltransferase SETDB1 isoform 3

      See identical proteins and their annotated locations for NP_001230420.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5' UTR, differs in the 3' UTR and lacks a large portion of the coding region, compared to variant 1. The encoded isoform (3) has a shorter and distinct C-terminus and lacks the histone methyltransferase and SET domains, compared to isoform 1. Variants 3 and 10-12 all encode the same isoform (3).
      Source sequence(s)
      BC009362, DA418593
      Consensus CDS
      CCDS58026.1
      UniProtKB/Swiss-Prot
      Q15047
      Related
      ENSP00000357958.2, ENST00000368962.6
      Conserved Domains (3) summary
      pfam18300
      Location:193 → 250
      DUF5604; Domain of unknown function (DUF5604)
      cd20382
      Location:260 → 341
      Tudor_SETDB1_rpt1; first Tudor domain found in SET domain bifurcated 1 (SETDB1) and similar proteins
      cl02573
      Location:348 → 380
      Tudor_SF; Tudor domain superfamily

    3. NM_001366417.1 → NP_001353346.1  histone-lysine N-methyltransferase SETDB1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL590133
      Consensus CDS
      CCDS91050.1
      UniProtKB/TrEMBL
      A0A8I5KT93, E9PRF4
      Related
      ENSP00000508664.1, ENST00000692314.1
      Conserved Domains (6) summary
      smart00391
      Location:598 → 673
      MBD; Methyl-CpG binding domain
      cd10517
      Location:675 → 876
      SET_SETDB1; SET domain (including pre-SET and post-SET domains) found in SET domain bifurcated 1 (SETDB1) and similar proteins
      cl40432
      Location:1203 → 1292
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily
      pfam18300
      Location:193 → 250
      DUF5604; Domain of unknown function (DUF5604)
      cd20382
      Location:260 → 341
      Tudor_SETDB1_rpt1; first Tudor domain found in SET domain bifurcated 1 (SETDB1) and similar proteins
      cd21181
      Location:348 → 401
      Tudor_SETDB1_rpt2; second Tudor domain found in SET domain bifurcated 1 (SETDB1) and similar proteins

    4. NM_001366418.1 → NP_001353347.1  histone-lysine N-methyltransferase SETDB1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL590133
      Consensus CDS
      CCDS91050.1
      UniProtKB/TrEMBL
      A0A8I5KT93, E9PRF4
      Related
      ENSP00000509425.1, ENST00000692827.1
      Conserved Domains (6) summary
      smart00391
      Location:598 → 673
      MBD; Methyl-CpG binding domain
      cd10517
      Location:675 → 876
      SET_SETDB1; SET domain (including pre-SET and post-SET domains) found in SET domain bifurcated 1 (SETDB1) and similar proteins
      cl40432
      Location:1203 → 1292
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily
      pfam18300
      Location:193 → 250
      DUF5604; Domain of unknown function (DUF5604)
      cd20382
      Location:260 → 341
      Tudor_SETDB1_rpt1; first Tudor domain found in SET domain bifurcated 1 (SETDB1) and similar proteins
      cd21181
      Location:348 → 401
      Tudor_SETDB1_rpt2; second Tudor domain found in SET domain bifurcated 1 (SETDB1) and similar proteins

    5. NM_001393958.1 → NP_001380887.1  histone-lysine N-methyltransferase SETDB1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL590133
      Consensus CDS
      CCDS91050.1
      UniProtKB/TrEMBL
      A0A8I5KT93, E9PRF4
      Conserved Domains (6) summary
      smart00391
      Location:598 → 673
      MBD; Methyl-CpG binding domain
      cd10517
      Location:675 → 876
      SET_SETDB1; SET domain (including pre-SET and post-SET domains) found in SET domain bifurcated 1 (SETDB1) and similar proteins
      cl40432
      Location:1203 → 1292
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily
      pfam18300
      Location:193 → 250
      DUF5604; Domain of unknown function (DUF5604)
      cd20382
      Location:260 → 341
      Tudor_SETDB1_rpt1; first Tudor domain found in SET domain bifurcated 1 (SETDB1) and similar proteins
      cd21181
      Location:348 → 401
      Tudor_SETDB1_rpt2; second Tudor domain found in SET domain bifurcated 1 (SETDB1) and similar proteins

    6. NM_001393959.1 → NP_001380888.1  histone-lysine N-methyltransferase SETDB1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL590133
      Consensus CDS
      CCDS91050.1
      UniProtKB/TrEMBL
      A0A8I5KT93, E9PRF4
      Conserved Domains (6) summary
      smart00391
      Location:598 → 673
      MBD; Methyl-CpG binding domain
      cd10517
      Location:675 → 876
      SET_SETDB1; SET domain (including pre-SET and post-SET domains) found in SET domain bifurcated 1 (SETDB1) and similar proteins
      cl40432
      Location:1203 → 1292
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily
      pfam18300
      Location:193 → 250
      DUF5604; Domain of unknown function (DUF5604)
      cd20382
      Location:260 → 341
      Tudor_SETDB1_rpt1; first Tudor domain found in SET domain bifurcated 1 (SETDB1) and similar proteins
      cd21181
      Location:348 → 401
      Tudor_SETDB1_rpt2; second Tudor domain found in SET domain bifurcated 1 (SETDB1) and similar proteins

    7. NM_001393960.1 → NP_001380889.1  histone-lysine N-methyltransferase SETDB1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL590133
      Consensus CDS
      CCDS44217.1
      UniProtKB/Swiss-Prot
      A6NEW2, Q15047, Q5SZD8, Q5SZD9, Q5SZE0, Q5SZE7, Q96GM9
      UniProtKB/TrEMBL
      E9PRF4
      Conserved Domains (6) summary
      smart00391
      Location:597 → 672
      MBD; Methyl-CpG binding domain
      cd10517
      Location:674 → 875
      SET_SETDB1; SET domain (including pre-SET and post-SET domains) found in SET domain bifurcated 1 (SETDB1) and similar proteins
      cl40432
      Location:1202 → 1291
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily
      pfam18300
      Location:193 → 250
      DUF5604; Domain of unknown function (DUF5604)
      cd20382
      Location:260 → 341
      Tudor_SETDB1_rpt1; first Tudor domain found in SET domain bifurcated 1 (SETDB1) and similar proteins
      cd21181
      Location:348 → 401
      Tudor_SETDB1_rpt2; second Tudor domain found in SET domain bifurcated 1 (SETDB1) and similar proteins

    8. NM_001393961.1 → NP_001380890.1  histone-lysine N-methyltransferase SETDB1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL590133
      UniProtKB/TrEMBL
      E9PRF4
      Conserved Domains (4) summary
      smart00391
      Location:598 → 673
      MBD; Methyl-CpG binding domain
      smart00333
      Location:348 → 400
      TUDOR; Tudor domain
      cd10517
      Location:675 → 876
      SET_SETDB1; SET domain (including pre-SET and post-SET domains) found in SET domain bifurcated 1 (SETDB1) and similar proteins
      cl40432
      Location:1203 → 1291
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily

    9. NM_001393964.1 → NP_001380893.1  histone-lysine N-methyltransferase SETDB1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL590133
      Consensus CDS
      CCDS58026.1
      Conserved Domains (3) summary
      pfam18300
      Location:193 → 250
      DUF5604; Domain of unknown function (DUF5604)
      cd20382
      Location:260 → 341
      Tudor_SETDB1_rpt1; first Tudor domain found in SET domain bifurcated 1 (SETDB1) and similar proteins
      cl02573
      Location:348 → 380
      Tudor_SF; Tudor domain superfamily

    10. NM_001393965.1 → NP_001380894.1  histone-lysine N-methyltransferase SETDB1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL590133
      Consensus CDS
      CCDS58026.1
      Conserved Domains (3) summary
      pfam18300
      Location:193 → 250
      DUF5604; Domain of unknown function (DUF5604)
      cd20382
      Location:260 → 341
      Tudor_SETDB1_rpt1; first Tudor domain found in SET domain bifurcated 1 (SETDB1) and similar proteins
      cl02573
      Location:348 → 380
      Tudor_SF; Tudor domain superfamily

    11. NM_001393966.1 → NP_001380895.1  histone-lysine N-methyltransferase SETDB1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL590133
      Consensus CDS
      CCDS58026.1
      Conserved Domains (3) summary
      pfam18300
      Location:193 → 250
      DUF5604; Domain of unknown function (DUF5604)
      cd20382
      Location:260 → 341
      Tudor_SETDB1_rpt1; first Tudor domain found in SET domain bifurcated 1 (SETDB1) and similar proteins
      cl02573
      Location:348 → 380
      Tudor_SF; Tudor domain superfamily

    12. NM_001393967.1 → NP_001380896.1  histone-lysine N-methyltransferase SETDB1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL590133
      Consensus CDS
      CCDS91051.1
      UniProtKB/TrEMBL
      X6R732
      Related
      ENSP00000357959.1, ENST00000368963.5
      Conserved Domains (1) summary
      pfam18300
      Location:193 → 225
      DUF5604; Domain of unknown function (DUF5604)

    13. NM_001393968.1 → NP_001380897.1  histone-lysine N-methyltransferase SETDB1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL590133
      Consensus CDS
      CCDS91051.1
      UniProtKB/TrEMBL
      X6R732
      Conserved Domains (1) summary
      pfam18300
      Location:193 → 225
      DUF5604; Domain of unknown function (DUF5604)

    14. NM_012432.4 → NP_036564.3  histone-lysine N-methyltransferase SETDB1 isoform 2

      See identical proteins and their annotated locations for NP_036564.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. This results in a shorter protein (isoform 2) compared to isoform 1.
      Source sequence(s)
      BC028671, D31891, DA418593
      Consensus CDS
      CCDS972.1
      UniProtKB/TrEMBL
      E9PRF4
      Related
      ENSP00000357965.4, ENST00000368969.8
      Conserved Domains (4) summary
      smart00391
      Location:597 → 672
      MBD; Methyl-CpG binding domain
      smart00468
      Location:679 → 786
      PreSET; N-terminal to some SET domains
      smart00333
      Location:348 → 400
      TUDOR; Tudor domain
      smart00317
      Location:1206 → 1267
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain

    RNA

    1. NR_172060.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL590133

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      150926263..150964737
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047435582.1 → XP_047291538.1  histone-lysine N-methyltransferase SETDB1 isoform X2

      UniProtKB/Swiss-Prot
      A6NEW2, Q15047, Q5SZD8, Q5SZD9, Q5SZE0, Q5SZE7, Q96GM9
      UniProtKB/TrEMBL
      E9PRF4
      Related
      ENSP00000432348.1, ENST00000498193.5

    2. XM_047435567.1 → XP_047291523.1  histone-lysine N-methyltransferase SETDB1 isoform X1

      UniProtKB/TrEMBL
      A0A8I5KT93, E9PRF4

    3. XM_047435579.1 → XP_047291535.1  histone-lysine N-methyltransferase SETDB1 isoform X2

      UniProtKB/Swiss-Prot
      A6NEW2, Q15047, Q5SZD8, Q5SZD9, Q5SZE0, Q5SZE7, Q96GM9
      UniProtKB/TrEMBL
      E9PRF4

    4. XM_047435573.1 → XP_047291529.1  histone-lysine N-methyltransferase SETDB1 isoform X2

      UniProtKB/Swiss-Prot
      A6NEW2, Q15047, Q5SZD8, Q5SZD9, Q5SZE0, Q5SZE7, Q96GM9
      UniProtKB/TrEMBL
      E9PRF4

    5. XM_047435587.1 → XP_047291543.1  histone-lysine N-methyltransferase SETDB1 isoform X4

      UniProtKB/TrEMBL
      E9PQM8
      Related
      ENSP00000436148.1, ENST00000534805.5

    6. XM_047435586.1 → XP_047291542.1  histone-lysine N-methyltransferase SETDB1 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      150049948..150088436
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054339878.1 → XP_054195853.1  histone-lysine N-methyltransferase SETDB1 isoform X2

      UniProtKB/Swiss-Prot
      A6NEW2, Q15047, Q5SZD8, Q5SZD9, Q5SZE0, Q5SZE7, Q96GM9
      UniProtKB/TrEMBL
      E9PRF4

    2. XM_054339875.1 → XP_054195850.1  histone-lysine N-methyltransferase SETDB1 isoform X1

      UniProtKB/TrEMBL
      A0A8I5KT93, E9PRF4

    3. XM_054339877.1 → XP_054195852.1  histone-lysine N-methyltransferase SETDB1 isoform X2

      UniProtKB/Swiss-Prot
      A6NEW2, Q15047, Q5SZD8, Q5SZD9, Q5SZE0, Q5SZE7, Q96GM9
      UniProtKB/TrEMBL
      E9PRF4

    4. XM_054339876.1 → XP_054195851.1  histone-lysine N-methyltransferase SETDB1 isoform X2

      UniProtKB/Swiss-Prot
      A6NEW2, Q15047, Q5SZD8, Q5SZD9, Q5SZE0, Q5SZE7, Q96GM9
      UniProtKB/TrEMBL
      E9PRF4

    5. XM_054339880.1 → XP_054195855.1  histone-lysine N-methyltransferase SETDB1 isoform X4

      UniProtKB/TrEMBL
      E9PQM8

    6. XM_054339879.1 → XP_054195854.1  histone-lysine N-methyltransferase SETDB1 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15047.1 GenPept UniProtKB/Swiss-Prot:Q15047

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools