Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 6839
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol SUV39H1   Gene   UCSC   Ensembl
Aliases H3-K9-HMTase 1, KMT1A, MG44, SUV39H
Gene name suppressor of variegation 3-9 homolog 1
Alternate names histone-lysine N-methyltransferase SUV39H1, Su(var)3-9 homolog 1, histone H3-K9 methyltransferase 1, histone-lysine N-methyltransferase, H3 lysine-9 specific 1, lysine N-methyltransferase 1A, position-effect variegation 3-9 homolog,
Gene location Xp11.23 (48695553: 48709015)     Exons: 7     NC_000023.11
Gene summary(Entrez) 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]
OMIM 300254

Protein Summary
Protein general information O43463  

Name: Histone lysine N methyltransferase SUV39H1 (EC 2.1.1.43) (Histone H3 K9 methyltransferase 1) (H3 K9 HMTase 1) (Lysine N methyltransferase 1A) (Position effect variegation 3 9 homolog) (Suppressor of variegation 3 9 homolog 1) (Su(var)3 9 homolog 1)

Length: 412  Mass: 47,907

Sequence MAENLKGCSVCCKSSWNQLQDLCRLAKLSCPALGISKRNLYDFEVEYLCDYKKIREQEYYLVKWRGYPDSESTWE
PRQNLKCVRILKQFHKDLERELLRRHHRSKTPRHLDPSLANYLVQKAKQRRALRRWEQELNAKRSHLGRITVENE
VDLDGPPRAFVYINEYRVGEGITLNQVAVGCECQDCLWAPTGGCCPGASLHKFAYNDQGQVRLRAGLPIYECNSR
CRCGYDCPNRVVQKGIRYDLCIFRTDDGRGWGVRTLEKIRKNSFVMEYVGEIITSEEAERRGQIYDRQGATYLFD
LDYVEDVYTVDAAYYGNISHFVNHSCDPNLQVYNVFIDNLDERLPRIAFFATRTIRAGEELTFDYNMQVDPVDME
STRMDSNFGLAGLPGSPKKRVRIECKCGTESCRKYLF
Structural information
Protein Domains
 Chromo. (43-101)
Pre-SET. (179-240)
SET. (243-366)
Post-SET. (396-412)
Interpro:  IPR000953 IPR023780 IPR016197 IPR023779 IPR011381 IPR003616 IPR007728 IPR001214
Prosite:   PS00598 PS50013 PS50868 PS50867 PS51579 PS50280

Pfam:  		 PF00385 PF05033 PF00856

PDB:  		 3MTS
PDBsum:   3MTS

DIP:  		 32589
MINT:   191763
STRING:   ENSP00000365877;
Other Databases GeneCards:  SUV39H1;  Malacards:  SUV39H1

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
 IMP biological_process
GO:0000183 chromatin silencing at rD
NA
 IDA biological_process
GO:0000183 chromatin silencing at rD
NA
 TAS biological_process
GO:0000775 chromosome, centromeric r
egion
 IEA cellular_component
GO:0000792 heterochromatin
 IDA cellular_component
GO:0000794 condensed nuclear chromos
ome
 TAS cellular_component
GO:0000976 transcription regulatory
region sequence-specific
DNA binding
 ISS molecular_function
GO:0003682 chromatin binding
 TAS molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005634 nucleus
 IDA cellular_component
GO:0005652 nuclear lamina
 IEA cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005677 chromatin silencing compl
ex
 IDA cellular_component
GO:0006325 chromatin organization
 TAS biological_process
GO:0006351 transcription, DNA-templa
ted
 IEA biological_process
GO:0006364 rRNA processing
 IEA biological_process
GO:0006974 cellular response to DNA
damage stimulus
 IDA biological_process
GO:0007049 cell cycle
 IEA biological_process
GO:0008270 zinc ion binding
 IEA molecular_function
GO:0008757 S-adenosylmethionine-depe
ndent methyltransferase a
ctivity
 IDA molecular_function
GO:0016032 viral process
 IEA biological_process
GO:0018024 histone-lysine N-methyltr
ansferase activity
 IDA molecular_function
GO:0018024 histone-lysine N-methyltr
ansferase activity
 TAS molecular_function
GO:0018024 histone-lysine N-methyltr
ansferase activity
 TAS molecular_function
GO:0018024 histone-lysine N-methyltr
ansferase activity
 TAS molecular_function
GO:0030154 cell differentiation
 IEA biological_process
GO:0033553 rDNA heterochromatin
 IDA cellular_component
GO:0036123 histone H3-K9 dimethylati
on
 ISS biological_process
GO:0036124 histone H3-K9 trimethylat
ion
 ISS biological_process
GO:0042054 histone methyltransferase
activity
 IDA molecular_function
GO:0042754 negative regulation of ci
rcadian rhythm
 ISS biological_process
GO:0045892 negative regulation of tr
anscription, DNA-template
d
 ISS biological_process
GO:0046974 histone methyltransferase
activity (H3-K9 specific
)
 IDA molecular_function
GO:0046974 histone methyltransferase
activity (H3-K9 specific
)
 IDA molecular_function
GO:0046974 histone methyltransferase
activity (H3-K9 specific
)
 EXP molecular_function
GO:0046974 histone methyltransferase
activity (H3-K9 specific
)
 IDA molecular_function
GO:0047485 protein N-terminus bindin
g
 IPI molecular_function
GO:0048511 rhythmic process
 IEA biological_process
GO:0071456 cellular response to hypo
xia
 IDA biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
 IMP biological_process
GO:0000183 chromatin silencing at rD
NA
 IDA biological_process
GO:0000183 chromatin silencing at rD
NA
 TAS biological_process
GO:0000775 chromosome, centromeric r
egion
 IEA cellular_component
GO:0000775 chromosome, centromeric r
egion
 IEA cellular_component
GO:0000792 heterochromatin
 IDA cellular_component
GO:0000794 condensed nuclear chromos
ome
 TAS cellular_component
GO:0000976 transcription regulatory
region sequence-specific
DNA binding
 ISS molecular_function
GO:0003682 chromatin binding
 TAS molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005634 nucleus
 IEA cellular_component
GO:0005634 nucleus
 IEA cellular_component
GO:0005634 nucleus
 IEA cellular_component
GO:0005634 nucleus
 TAS cellular_component
GO:0005634 nucleus
 IDA cellular_component
GO:0005652 nuclear lamina
 IEA cellular_component
GO:0005654 nucleoplasm
 IEA cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005677 chromatin silencing compl
ex
 IDA cellular_component
GO:0005694 chromosome
 IEA cellular_component
GO:0006325 chromatin organization
 TAS biological_process
GO:0006351 transcription, DNA-templa
ted
 IEA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
 IEA biological_process
GO:0006364 rRNA processing
 IEA biological_process
GO:0006974 cellular response to DNA
damage stimulus
 IDA biological_process
GO:0007049 cell cycle
 IEA biological_process
GO:0008168 methyltransferase activit
y
 IEA molecular_function
GO:0008270 zinc ion binding
 IEA molecular_function
GO:0008757 S-adenosylmethionine-depe
ndent methyltransferase a
ctivity
 IDA molecular_function
GO:0016032 viral process
 IEA biological_process
GO:0016740 transferase activity
 IEA molecular_function
GO:0018024 histone-lysine N-methyltr
ansferase activity
 IEA molecular_function
GO:0018024 histone-lysine N-methyltr
ansferase activity
 IEA molecular_function
GO:0018024 histone-lysine N-methyltr
ansferase activity
 IDA molecular_function
GO:0018024 histone-lysine N-methyltr
ansferase activity
 TAS molecular_function
GO:0018024 histone-lysine N-methyltr
ansferase activity
 TAS molecular_function
GO:0018024 histone-lysine N-methyltr
ansferase activity
 TAS molecular_function
GO:0030154 cell differentiation
 IEA biological_process
GO:0032259 methylation
 IEA biological_process
GO:0033553 rDNA heterochromatin
 IDA cellular_component
GO:0034968 histone lysine methylatio
n
 IEA biological_process
GO:0036123 histone H3-K9 dimethylati
on
 ISS biological_process
GO:0036124 histone H3-K9 trimethylat
ion
 ISS biological_process
GO:0042054 histone methyltransferase
activity
 IDA molecular_function
GO:0042754 negative regulation of ci
rcadian rhythm
 ISS biological_process
GO:0045892 negative regulation of tr
anscription, DNA-template
d
 ISS biological_process
GO:0046872 metal ion binding
 IEA molecular_function
GO:0046974 histone methyltransferase
activity (H3-K9 specific
)
 IDA molecular_function
GO:0046974 histone methyltransferase
activity (H3-K9 specific
)
 IDA molecular_function
GO:0046974 histone methyltransferase
activity (H3-K9 specific
)
 EXP molecular_function
GO:0046974 histone methyltransferase
activity (H3-K9 specific
)
 IDA molecular_function
GO:0047485 protein N-terminus bindin
g
 IPI molecular_function
GO:0048511 rhythmic process
 IEA biological_process
GO:0071456 cellular response to hypo
xia
 IDA biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
 IMP biological_process
GO:0000183 chromatin silencing at rD
NA
 IDA biological_process
GO:0000183 chromatin silencing at rD
NA
 TAS biological_process
GO:0000792 heterochromatin
 IDA cellular_component
GO:0000794 condensed nuclear chromos
ome
 TAS cellular_component
GO:0000976 transcription regulatory
region sequence-specific
DNA binding
 ISS molecular_function
GO:0003682 chromatin binding
 TAS molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005634 nucleus
 TAS cellular_component
GO:0005634 nucleus
 IDA cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005677 chromatin silencing compl
ex
 IDA cellular_component
GO:0006325 chromatin organization
 TAS biological_process
GO:0006974 cellular response to DNA
damage stimulus
 IDA biological_process
GO:0008757 S-adenosylmethionine-depe
ndent methyltransferase a
ctivity
 IDA molecular_function
GO:0018024 histone-lysine N-methyltr
ansferase activity
 IDA molecular_function
GO:0018024 histone-lysine N-methyltr
ansferase activity
 TAS molecular_function
GO:0018024 histone-lysine N-methyltr
ansferase activity
 TAS molecular_function
GO:0018024 histone-lysine N-methyltr
ansferase activity
 TAS molecular_function
GO:0033553 rDNA heterochromatin
 IDA cellular_component
GO:0036123 histone H3-K9 dimethylati
on
 ISS biological_process
GO:0036124 histone H3-K9 trimethylat
ion
 ISS biological_process
GO:0042054 histone methyltransferase
activity
 IDA molecular_function
GO:0042754 negative regulation of ci
rcadian rhythm
 ISS biological_process
GO:0045892 negative regulation of tr
anscription, DNA-template
d
 ISS biological_process
GO:0046974 histone methyltransferase
activity (H3-K9 specific
)
 IDA molecular_function
GO:0046974 histone methyltransferase
activity (H3-K9 specific
)
 IDA molecular_function
GO:0046974 histone methyltransferase
activity (H3-K9 specific
)
 EXP molecular_function
GO:0046974 histone methyltransferase
activity (H3-K9 specific
)
 IDA molecular_function
GO:0047485 protein N-terminus bindin
g
 IPI molecular_function
GO:0071456 cellular response to hypo
xia
 IDA biological_process

KEGG pathways

hsa00310  Lysine degradation

Diseases

Associated diseases References
Endometriosis PMID: 23080547
Endometriosis INFBASE23080547

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
23080547 Endometrio
sis
15 patients wit
h endometriosis
 SIRT1
HDAC1
SUV39H1
SUV39H2
HDAC2
G9a
 Show abstract