This gene encodes an evolutionarily-conserved protein containing an N-terminal chromodomain and a C-terminal SET domain. The encoded protein is a histone methyltransferase that trimethylates lysine 9 of histone H3, which results in transcriptional gene silencing. Loss of function of this gene disrupts heterochromatin formation and may cause chromosome instability. Alternative s... See more...

Aliases for SUV39H1 Gene

Aliases for SUV39H1 Gene

  • Suppressor Of Variegation 3-9 Homolog 1 2 3 4 5
  • KMT1A 2 3 4
  • Histone-Lysine N-Methyltransferase SUV39H1 3 4
  • Position-Effect Variegation 3-9 Homolog 3 4
  • Histone H3-K9 Methyltransferase 1 3 4
  • Lysine N-Methyltransferase 1A 3 4
  • Su(Var)3-9 Homolog 1 3 4
  • H3-K9-HMTase 1 3 4
  • SUV39H 3 4
  • Histone-Lysine N-Methyltransferase, H3 Lysine-9 Specific 1 3
  • Suppressor Of Variegation 3-9 (Drosophila) Homolog 1 2
  • Suppressor Of Variegation 3-9 Homolog 1 (Drosophila) 2
  • EC 2.1.1.355 4
  • EC 2.1.1.43 50
  • SUV39H1 5
  • MG44 3

External Ids for SUV39H1 Gene

Previous HGNC Symbols for SUV39H1 Gene

  • SUV39H

Previous GeneCards Identifiers for SUV39H1 Gene

  • GC0XP047357
  • GC0XP046815
  • GC0XP047601
  • GC0XP048311
  • GC0XP048439
  • GC0XP048554
  • GC0XP046217
  • GC0XP048697
  • GC0XP048698

Summaries for SUV39H1 Gene

Entrez Gene Summary for SUV39H1 Gene

  • This gene encodes an evolutionarily-conserved protein containing an N-terminal chromodomain and a C-terminal SET domain. The encoded protein is a histone methyltransferase that trimethylates lysine 9 of histone H3, which results in transcriptional gene silencing. Loss of function of this gene disrupts heterochromatin formation and may cause chromosome instability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

GeneCards Summary for SUV39H1 Gene

SUV39H1 (Suppressor Of Variegation 3-9 Homolog 1) is a Protein Coding gene. Diseases associated with SUV39H1 include Hyperoxaluria, Primary, Type I and Retinoblastoma. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Chromatin organization. Gene Ontology (GO) annotations related to this gene include chromatin binding and transcription regulatory region sequence-specific DNA binding. An important paralog of this gene is SUV39H2.

UniProtKB/Swiss-Prot Summary for SUV39H1 Gene

  • Histone methyltransferase that specifically trimethylates 'Lys-9' of histone H3 using monomethylated H3 'Lys-9' as substrate. Also weakly methylates histone H1 (in vitro). H3 'Lys-9' trimethylation represents a specific tag for epigenetic transcriptional repression by recruiting HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones. Mainly functions in heterochromatin regions, thereby playing a central role in the establishment of constitutive heterochromatin at pericentric and telomere regions. H3 'Lys-9' trimethylation is also required to direct DNA methylation at pericentric repeats. SUV39H1 is targeted to histone H3 via its interaction with RB1 and is involved in many processes, such as repression of MYOD1-stimulated differentiation, regulation of the control switch for exiting the cell cycle and entering differentiation, repression by the PML-RARA fusion protein, BMP-induced repression, repression of switch recombination to IgA and regulation of telomere length. Component of the eNoSC (energy-dependent nucleolar silencing) complex, a complex that mediates silencing of rDNA in response to intracellular energy status and acts by recruiting histone-modifying enzymes. The eNoSC complex is able to sense the energy status of cell: upon glucose starvation, elevation of NAD(+)/NADP(+) ratio activates SIRT1, leading to histone H3 deacetylation followed by dimethylation of H3 at 'Lys-9' (H3K9me2) by SUV39H1 and the formation of silent chromatin in the rDNA locus. Recruited by the large PER complex to the E-box elements of the circadian target genes such as PER2 itself or PER1, contributes to the conversion of local chromatin to a heterochromatin-like repressive state through H3 'Lys-9' trimethylation.

Tocris Summary for SUV39H1 Gene

  • Lysine methyltransferases are enyzmes that catalyze the transfer of methyl groups from S-adenosylmethionine (SAM) to the lysine residues on histones, particularly histones H3 and H4. The dysregulation of this methylation is critical in the development of cancer.

Gene Wiki entry for SUV39H1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SUV39H1 Gene

Genomics for SUV39H1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SUV39H1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SUV39H1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SUV39H1

Top Transcription factor binding sites by QIAGEN in the SUV39H1 gene promoter:
  • CREB
  • deltaCREB
  • MyoD
  • p53
  • PPAR-alpha
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for SUV39H1 Gene

Latest Assembly
chrX:48,695,554-48,709,016
(GRCh38/hg38)
Size:
13,463 bases
Orientation:
Plus strand

Previous Assembly
chrX:48,553,945-48,567,407
(GRCh37/hg19 by Entrez Gene)
Size:
13,463 bases
Orientation:
Plus strand

chrX:48,553,945-48,567,403
(GRCh37/hg19 by Ensembl)
Size:
13,459 bases
Orientation:
Plus strand

Genomic View for SUV39H1 Gene

Genes around SUV39H1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SUV39H1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SUV39H1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SUV39H1 Gene

Proteins for SUV39H1 Gene

  • Protein details for SUV39H1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43463-SUV91_HUMAN
    Recommended name:
    Histone-lysine N-methyltransferase SUV39H1
    Protein Accession:
    O43463
    Secondary Accessions:
    • B2R6E8
    • B4DST0
    • Q53G60
    • Q6FHK6

    Protein attributes for SUV39H1 Gene

    Size:
    412 amino acids
    Molecular mass:
    47907 Da
    Quaternary structure:
    • Interacts with H3 and H4 histones. Interacts with GFI1B, DNMT3B, CBX1, CBX4, CCAR2, MBD1, RUNX1, RUNX3, MYOD1, SMAD5 and RB1. Interacts with SBF1 through the SET domain. Interacts with HDAC1 and HDAC2 through the N-terminus and associates with the core histone deacetylase complex composed of HDAC1, HDAC2, RBBP4 and RBBP7. Component of the eNoSC complex, composed of SIRT1, SUV39H1 and RRP8. Interacts (via SET domain) with MECOM; enhances MECOM transcriptional repression activity. Interacts with LMNA; the interaction increases stability of SUV39H1. The large PER complex involved in the histone methylation is composed of at least PER2, CBX3, TRIM28, SUV39H1 and/or SUV39H2; CBX3 mediates the formation of the complex.
    • (Microbial infection) Interacts with HTLV-1 Tax protein, leading to abrogate Tax transactivation of HTLV-1 LTR.

    Three dimensional structures from OCA and Proteopedia for SUV39H1 Gene

    Alternative splice isoforms for SUV39H1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SUV39H1 Gene

Selected DME Specific Peptides for SUV39H1 Gene

O43463:
  • AGEELTFDY
  • CGTESCR
  • EYYLVKW
  • YPDSESTWEPR
  • SFVMEYVGE
  • NLYDFEV
  • TYLFDLDYVEDVYTVDAA
  • LKQFHKDLEREL
  • NHSCDPN
  • GEELTFDYNMQVDPVD
  • FVYINEYRVGEG
  • ITSEEAERRGQ
  • VFIDNLD
  • LNAKRSHLG
  • CGYDCPNRVVQKGIRYDLCIFRT
  • GGCCPGA
  • VQKAKQR
  • QNLKCVR
  • TWEPRQNLKC
  • PIYECNSRC
  • DLERELLRR

Post-translational modifications for SUV39H1 Gene

  • Phosphorylated on serine residues, and to a lesser degree, on threonine residues. The phosphorylated form is stabilized by SBF1 and is less active in its transcriptional repressor function.
  • Acetylated at Lys-266, leading to inhibition of enzyme activity. SIRT1-mediated deacetylation relieves this inhibition.
  • Ubiquitination at Lys6, Lys121, and Lys138
  • Modification sites at PhosphoSitePlus

Other Protein References for SUV39H1 Gene

Domains & Families for SUV39H1 Gene

Gene Families for SUV39H1 Gene

Protein Domains for SUV39H1 Gene

InterPro:
Blocks:
  • Chromo domain
  • Nuclear protein SET
  • Nuclear protein Zn2+-binding
  • SET-related region

Suggested Antigen Peptide Sequences for SUV39H1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51508 (B4DP90_HUMAN)
  • cDNA FLJ57812, highly similar to Histone-lysine N-methyltransferase, H3 lysine-9 specific 1 (EC 2.1.1.43) (B4DST0_HUMAN)
  • MG44 protein (Q14828_HUMAN)
  • Suppressor of variegation 3-9 homolog 1 (SUV91_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O43463

UniProtKB/Swiss-Prot:

SUV91_HUMAN :
  • Although the SET domain contains the active site of enzymatic activity, both pre-SET and post-SET domains are required for methyltransferase activity. The SET domain also participates in stable binding to heterochromatin.
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. Suvar3-9 subfamily.
Domain:
  • Although the SET domain contains the active site of enzymatic activity, both pre-SET and post-SET domains are required for methyltransferase activity. The SET domain also participates in stable binding to heterochromatin.
  • In the pre-SET domain, Cys residues bind 3 zinc ions that are arranged in a triangular cluster; some of these Cys residues contribute to the binding of two zinc ions within the cluster.
Family:
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. Suvar3-9 subfamily.
genes like me logo Genes that share domains with SUV39H1: view

Function for SUV39H1 Gene

Molecular function for SUV39H1 Gene

UniProtKB/Swiss-Prot Function:
Histone methyltransferase that specifically trimethylates 'Lys-9' of histone H3 using monomethylated H3 'Lys-9' as substrate. Also weakly methylates histone H1 (in vitro). H3 'Lys-9' trimethylation represents a specific tag for epigenetic transcriptional repression by recruiting HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones. Mainly functions in heterochromatin regions, thereby playing a central role in the establishment of constitutive heterochromatin at pericentric and telomere regions. H3 'Lys-9' trimethylation is also required to direct DNA methylation at pericentric repeats. SUV39H1 is targeted to histone H3 via its interaction with RB1 and is involved in many processes, such as repression of MYOD1-stimulated differentiation, regulation of the control switch for exiting the cell cycle and entering differentiation, repression by the PML-RARA fusion protein, BMP-induced repression, repression of switch recombination to IgA and regulation of telomere length. Component of the eNoSC (energy-dependent nucleolar silencing) complex, a complex that mediates silencing of rDNA in response to intracellular energy status and acts by recruiting histone-modifying enzymes. The eNoSC complex is able to sense the energy status of cell: upon glucose starvation, elevation of NAD(+)/NADP(+) ratio activates SIRT1, leading to histone H3 deacetylation followed by dimethylation of H3 at 'Lys-9' (H3K9me2) by SUV39H1 and the formation of silent chromatin in the rDNA locus. Recruited by the large PER complex to the E-box elements of the circadian target genes such as PER2 itself or PER1, contributes to the conversion of local chromatin to a heterochromatin-like repressive state through H3 'Lys-9' trimethylation.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-lysyl(9)-[histone H3] + 3 S-adenosyl-L-methionine = 3 H(+) + N(6),N(6),N(6)-trimethyl-L-lysyl(9)-[histone H3] + 3 S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:60276, Rhea:RHEA-COMP:15538, Rhea:RHEA-COMP:15546, ChEBI:CHEBI:15378, ChEBI:CHEBI:29969, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:61961; EC=2.1.1.355; Evidence={ECO:0000255|PROSITE-ProRule:PRU00912, ECO:0000269|PubMed:10949293, ECO:0000269|PubMed:18004385};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by S-adenosyl-L-homocysteine. Negatively regulated by CCAR2.

Enzyme Numbers (IUBMB) for SUV39H1 Gene

Phenotypes From GWAS Catalog for SUV39H1 Gene

Gene Ontology (GO) - Molecular Function for SUV39H1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding ISS --
GO:0003682 chromatin binding TAS 10202156
GO:0005515 protein binding IPI 10949293
GO:0008168 methyltransferase activity IEA --
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with SUV39H1: view
genes like me logo Genes that share phenotypes with SUV39H1: view

Animal Models for SUV39H1 Gene

MGI Knock Outs for SUV39H1:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SUV39H1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SUV39H1 Gene

Localization for SUV39H1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SUV39H1 Gene

Nucleus. Nucleus lamina. Nucleus, nucleoplasm. Chromosome, centromere. Note=Associates with centromeric constitutive heterochromatin.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SUV39H1 gene
Compartment Confidence
nucleus 5
cytosol 3
extracellular 2
cytoskeleton 2
mitochondrion 2
plasma membrane 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for SUV39H1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000775 chromosome, centromeric region IEA --
GO:0000792 heterochromatin IDA 18004385
GO:0000794 condensed nuclear chromosome TAS 10202156
GO:0005634 nucleus TAS,IDA 18004385
GO:0005652 nuclear lamina IEA --
genes like me logo Genes that share ontologies with SUV39H1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SUV39H1 Gene

Pathways & Interactions for SUV39H1 Gene

genes like me logo Genes that share pathways with SUV39H1: view

SIGNOR curated interactions for SUV39H1 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for SUV39H1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IMP 21402781
GO:0000183 chromatin silencing at rDNA TAS --
GO:0006325 chromatin organization TAS 10949293
GO:0006364 rRNA processing IEA --
GO:0006974 cellular response to DNA damage stimulus IDA 23509280
genes like me logo Genes that share ontologies with SUV39H1: view

Drugs & Compounds for SUV39H1 Gene

(2) Drugs for SUV39H1 Gene - From: ApexBio and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
s-adenosylhomocysteine Experimental Pharma 0
Chaetocin Pharma SUV39H1 Inhibitor 0

(2) Additional Compounds for SUV39H1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
s-adenosylmethionine
  • (3S)-5'-[(3-Amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine, inner salt
  • [1-(Adenin-9-yl)-1,5-dideoxy-beta-D-ribofuranos-5-yl][(3S)-3-amino-3-carboxypropyl](methyl)sulfonium
  • Acylcarnitine
  • AdoMet
  • S-(5'-Deoxyadenosin-5'-yl)-L-methionine
485-80-3

(1) ApexBio Compounds for SUV39H1 Gene

Compound Action Cas Number
Chaetocin SUV39H1 Inhibitor 28097-03-2
genes like me logo Genes that share compounds with SUV39H1: view

Drug products for research

Transcripts for SUV39H1 Gene

mRNA/cDNA for SUV39H1 Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SUV39H1

Alternative Splicing Database (ASD) splice patterns (SP) for SUV39H1 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b
SP1: - -
SP2:
SP3:
SP4:

Relevant External Links for SUV39H1 Gene

GeneLoc Exon Structure for
SUV39H1

Expression for SUV39H1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SUV39H1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SUV39H1 Gene

This gene is overexpressed in Platelet (68.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SUV39H1 Gene



Protein tissue co-expression partners for SUV39H1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SUV39H1

SOURCE GeneReport for Unigene cluster for SUV39H1 Gene:

Hs.522639

Evidence on tissue expression from TISSUES for SUV39H1 Gene

  • Nervous system(4.7)
  • Lung(4.3)
  • Blood(2.2)
  • Skin(2.1)
  • Liver(2.1)
  • Muscle(2)
genes like me logo Genes that share expression patterns with SUV39H1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SUV39H1 Gene

Orthologs for SUV39H1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SUV39H1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SUV39H1 30
  • 100 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia SUV39H1 29 30
  • 94.42 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SUV39H1 29 30
  • 93.37 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Suv39h1 29
  • 88.43 (n)
Mouse
(Mus musculus)
Mammalia Suv39h1 29 16 30
  • 87.38 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SUV39H1 30
  • 79 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SUV39H1 29 30
  • 76.08 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SUV39H1 30
  • 81 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.12013 29
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.6972 29
Zebrafish
(Danio rerio)
Actinopterygii suv39h1b 29 30
  • 67.16 (n)
OneToMany
suv39h1a 30
  • 63 (a)
OneToMany
wufb18a10 29
Fruit Fly
(Drosophila melanogaster)
Insecta Su(var)3-9 30 31
  • 26 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea mes-4 30
  • 7 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SET2 30
  • 7 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 64 (a)
ManyToMany
CSA.9082 30
  • 46 (a)
ManyToMany
Species where no ortholog for SUV39H1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SUV39H1 Gene

ENSEMBL:
Gene Tree for SUV39H1 (if available)
TreeFam:
Gene Tree for SUV39H1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SUV39H1: view image
Alliance of Genome Resources:
Additional Orthologs for SUV39H1

Paralogs for SUV39H1 Gene

(4) SIMAP similar genes for SUV39H1 Gene using alignment to 3 proteins:

  • SUV91_HUMAN
  • B4DP90_HUMAN
  • B4DST0_HUMAN
genes like me logo Genes that share paralogs with SUV39H1: view

Variants for SUV39H1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SUV39H1 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
rs141290793 Benign: not provided 48,700,687(+) T/C
NM_003173.4(SUV39H1):c.762T>C (p.Arg254=)
SYNONYMOUS
rs368779259 Uncertain Significance: Ependymoma 48,700,340(+) C/T
NM_003173.4(SUV39H1):c.415C>T (p.Arg139Cys)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SUV39H1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SUV39H1 Gene

Variant ID Type Subtype PubMed ID
esv32909 CNV gain+loss 17666407
nsv528292 CNV gain 19592680

Variation tolerance for SUV39H1 Gene

Residual Variation Intolerance Score: 55.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.24; 5.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SUV39H1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SUV39H1
Leiden Open Variation Database (LOVD)
SUV39H1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SUV39H1 Gene

Disorders for SUV39H1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for SUV39H1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
hyperoxaluria, primary, type i
  • hp1
retinoblastoma
  • rb1
carbohydrate metabolic disorder
  • disorder of carbohydrate transport and metabolism
primary hyperoxaluria
  • hyperoxaluria, primary
immunodeficiency-centromeric instability-facial anomalies syndrome
  • icf syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SUV39H1

genes like me logo Genes that share disorders with SUV39H1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SUV39H1 Gene

Publications for SUV39H1 Gene

  1. Inhibition of SUV39H1 methyltransferase activity by DBC1. (PMID: 19218236) Li Z … Chen J (The Journal of biological chemistry 2009) 3 4 22
  2. SIRT1 regulates the histone methyl-transferase SUV39H1 during heterochromatin formation. (PMID: 18004385) Vaquero A … Reinberg D (Nature 2007) 3 4 22
  3. Gfi1b alters histone methylation at target gene promoters and sites of gamma-satellite containing heterochromatin. (PMID: 16688220) Vassen L … Möröy T (The EMBO journal 2006) 3 4 22
  4. SUV39H1 interacts with HTLV-1 Tax and abrogates Tax transactivation of HTLV-1 LTR. (PMID: 16409643) Kamoi K … Watanabe T (Retrovirology 2006) 3 4 22
  5. Histone methyltransferase Suv39h1 represses MyoD-stimulated myogenic differentiation. (PMID: 16858404) Mal AK (The EMBO journal 2006) 3 4 22

Products for SUV39H1 Gene

Sources for SUV39H1 Gene