• Gene id: 79813

Gene Summary

• Gene Symbol: EHMT1   Gene   UCSC   Ensembl
• Aliases: EHMT1-IT1, EUHMTASE1, Eu-HMTase1, FP13812, GLP, GLP1, KLEFS1, KMT1D
• Gene name: euchromatic histone lysine methyltransferase 1
• Alternate names: histone-lysine N-methyltransferase EHMT1, EHMT1 intronic transcript 1, G9a-like protein 1, H3-K9-HMTase 5, euchromatic histone-lysine N-methyltransferase 1, histone H3-K9 methyltransferase 5, histone-lysine N-methyltransferase, H3 lysine-9 specific 5, lysine N-m,
• Gene location: 9q34.3 (137619000: 137836126)     Exons: 8     NC_000009.12
• Gene summary(Entrez): The protein encoded by this gene is a histone methyltransferase that methylates the lysine-9 position of histone H3. This action marks the genomic region packaged with these methylated histones for transcriptional repression. This protein may be involved
• OMIM: 607001

Protein Summary

• Protein general information: Q9H9B1  
  • Name: Histone lysine N methyltransferase EHMT1 (EC 2.1.1. ) (Euchromatic histone lysine N methyltransferase 1) (Eu HMTase1) (G9a like protein 1) (GLP) (GLP1) (Histone H3 K9 methyltransferase 5) (H3 K9 HMTase 5) (Lysine N methyltransferase 1D)
  • Length: 1298  
  • Mass: 141466
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MAAADAEAVPARGEPQQDCCVKTELLGEETPMAADEGSAEKQAGEAHMAADGETNGSCENSDASSHANAAKHTQD
  SARVNPQDGTNTLTRIAENGVSERDSEAAKQNHVTADDFVQTSVIGSNGYILNKPALQAQPLRTTSTLASSLPGH
  AAKTLPGGAGKGRTPSAFPQTPAAPPATLGEGSADTEDRKLPAPGADVKVHRARKTMPKSVVGLHAASKDPREVR
  EARDHKEPKEEINKNISDFGRQQLLPPFPSLHQSLPQNQCYMATTKSQTACLPFVLAAAVSRKKKRRMGTYSLVP
  KKKTKVLKQRTVIEMFKSITHSTVGSKGEKDLGASSLHVNGESLEMDSDEDDSEELEEDDGHGAEQAAAFPTEDS
  RTSKESMSEADRAQKMDGESEEEQESVDTGEEEEGGDESDLSSESSIKKKFLKRKGKTDSPWIKPARKRRRRSRK
  KPSGALGSESYKSSAGSAEQTAPGDSTGYMEVSLDSLDLRVKGILSSQAEGLANGPDVLETDGLQEVPLCSCRME
  TPKSREITTLANNQCMATESVDHELGRCTNSVVKYELMRPSNKAPLLVLCEDHRGRMVKHQCCPGCGYFCTAGNF
  MECQPESSISHRFHKDCASRVNNASYCPHCGEESSKAKEVTIAKADTTSTVTPVPGQEKGSALEGRADTTTGSAA
  GPPLSEDDKLQGAASHVPEGFDPTGPAGLGRPTPGLSQGPGKETLESALIALDSEKPKKLRFHPKQLYFSARQGE
  LQKVLLMLVDGIDPNFKMEHQNKRSPLHAAAEAGHVDICHMLVQAGANIDTCSEDQRTPLMEAAENNHLEAVKYL
  IKAGALVDPKDAEGSTCLHLAAKKGHYEVVQYLLSNGQMDVNCQDDGGWTPMIWATEYKHVDLVKLLLSKGSDIN
  IRDNEENICLHWAAFSGCVDIAEILLAAKCDLHAVNIHGDSPLHIAARENRYDCVVLFLSRDSDVTLKNKEGETP
  LQCASLNSQVWSALQMSKALQDSAPDRPSPVERIVSRDIARGYERIPIPCVNAVDSEPCPSNYKYVSQNCVTSPM
  NIDRNITHLQYCVCIDDCSSSNCMCGQLSMRCWYDKDGRLLPEFNMAEPPLIFECNHACSCWRNCRNRVVQNGLR
  ARLQLYRTRDMGWGVRSLQDIPPGTFVCEYVGELISDSEADVREEDSYLFDLDNKDGEVYCIDARFYGNVSRFIN
  HHCEPNLVPVRVFMAHQDLRFPRIAFFSTRLIEAGEQLGFDYGERFWDIKGKLFSCRCGSPKCRHSSAALAQRQA
  SAAQEAQEDGLPDTSSAAAADPL

• Structural information:
  • Protein Domains: (1060..112-)
    (/note="Pre-SET-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00157-)
    (1126..124-)
    (/note="SET-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00190"-)
  • Interpro: IPR002110  IPR020683  IPR036770  IPR038035  IPR007728   IPR001214  
  • Prosite: PS50297 PS50088 PS50867 PS50280
  • PDB: 2IGQ 2RFI 3B7B 3B95 3FPD 3HNA 3MO0 3MO2 3MO5 3SW9 3SWC 4I51 5TTG 5TUZ 5V9J 5VSD 5VSF 6BY9 6MBO 6MBP
  • PDBsum: 2IGQ 2RFI 3B7B 3B95 3FPD 3HNA 3MO0 3MO2 3MO5 3SW9 3SWC 4I51 5TTG 5TUZ 5V9J 5VSD 5VSF 6BY9 6MBO 6MBP
  • DIP: 34585
  • STRING: ENSP00000417980
• Other Databases: GeneCards:  EHMT1  Malacards:  EHMT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0018027	peptidyl-lysine dimethylation	IDA	biological process
GO:0016279	protein-lysine N-methyltransferase activity	IDA	molecular function
GO:0046976	histone methyltransferase activity (H3-K27 specific)	ISS	molecular function
GO:0046974	histone methyltransferase activity (H3-K9 specific)	ISS	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	ISS	biological process
GO:0018026	peptidyl-lysine monomethylation	ISS	biological process
GO:0006306	DNA methylation	ISS	biological process
GO:0002039	p53 binding	IPI	molecular function
GO:0045995	regulation of embryonic development	ISS	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0002039	p53 binding	IEA	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0018024	histone-lysine N-methyltransferase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0034968	histone lysine methylation	IEA	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0032259	methylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:1901796	regulation of signal transduction by p53 class mediator	TAS	biological process
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:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0070317	negative regulation of G0 to G1 transition	TAS	biological process
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:0046976	histone methyltransferase activity (H3-K27 specific)	IEA	molecular function
GO:0046974	histone methyltransferase activity (H3-K9 specific)	IEA	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0018027	peptidyl-lysine dimethylation	IEA	biological process
GO:0018026	peptidyl-lysine monomethylation	IEA	biological process
GO:0006306	DNA methylation	IEA	biological process
GO:0060992	response to fungicide	IEA	biological process
GO:0120162	positive regulation of cold-induced thermogenesis	IEA	biological process
GO:0070742	C2H2 zinc finger domain binding	IEA	molecular function
GO:0045995	regulation of embryonic development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0120162	positive regulation of cold-induced thermogenesis	ISS	biological process
GO:0051567	histone H3-K9 methylation	IEA	biological process
GO:0051567	histone H3-K9 methylation	IEA	biological process
GO:0070734	histone H3-K27 methylation	IEA	biological process
GO:0070734	histone H3-K27 methylation	IEA	biological process
GO:0016571	histone methylation	IDA	biological process
GO:0008168	methyltransferase activity	IDA	molecular function
GO:0018024	histone-lysine N-methyltransferase activity	IDA	molecular function
GO:0006325	chromatin organization	IDA	biological process
GO:0005634	nucleus	IC	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04211	Longevity regulating pathway
hsa00310	Lysine degradation

Diseases

Associated diseases	References
Kleefstra syndrome	KEGG:H00907
Kleefstra syndrome	KEGG:H00907
Kleefstra syndrome	PMID:21538692
Kleefstra syndrome	PMID:21910222
Esophagus squamous cell carcinoma	PMID:24805087
Esophagus squamous cell carcinoma	PMID:24649311
Associated with spermatogenesis and epigenetic regulation	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Associated with spermatogenesis and epigenetic regulation			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray