U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 9869, updated on 14-Nov-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

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

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 Variation Viewer (GRCh37.p13)

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
    Related
    ENSP00000432348.1, ENST00000498193.5

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

    UniProtKB/TrEMBL
    A0A8I5KT93

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

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

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

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

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

    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

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

    UniProtKB/TrEMBL
    A0A8I5KT93

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

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

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

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

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

  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
Miscellaneous