Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	79813
Gene name Gene Name - the full gene name approved by the HGNC.	Euchromatic histone lysine methyltransferase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	EHMT1
Synonyms (NCBI Gene) Gene synonyms aliases	EHMT1-IT1, EUHMTASE1, Eu-HMTase1, FP13812, GLP, GLP1, KLEFS1, KMT1D
Disease Acronyms (UniProt) Disease acronyms from UniProt database	KLEFS1
Chromosome Chromosome number	9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	9q34.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(95)

SNP ID	Visualize variation	Clinical significance	Consequence
rs35285441	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, genic upstream transcript variant, coding sequence variant
rs121918301	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs137852714	C>A,T	Pathogenic	Synonymous variant, genic upstream transcript variant, 5 prime UTR variant, stop gained, coding sequence variant
rs137852715	GGCACCAGGAGAC>-	Pathogenic	Coding sequence variant, frameshift variant, upstream transcript variant, genic upstream transcript variant
rs137852716	AGAC>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant, 5 prime UTR variant
rs137852717	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, genic downstream transcript variant, stop gained
rs137852718	C>A,T	Pathogenic, benign, likely-benign	Genic downstream transcript variant, synonymous variant, genic upstream transcript variant, stop gained, coding sequence variant
rs137852720	G>C	Pathogenic	Splice acceptor variant, genic upstream transcript variant, genic downstream transcript variant
rs137852721	GT>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs137852722	G>A	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs137852724	G>T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs137852725	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs137852726	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs138824805	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs139206060	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, genic upstream transcript variant, genic downstream transcript variant
rs144085805	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs144949902	A>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, genic upstream transcript variant, coding sequence variant
rs146125583	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Genic upstream transcript variant, intron variant
rs182595609	G>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic upstream transcript variant
rs202097707	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs368087892	C>G,T	Likely-benign, likely-pathogenic	Stop gained, coding sequence variant, synonymous variant, genic downstream transcript variant
rs377070695	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs398124404	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, genic downstream transcript variant, coding sequence variant
rs398124407	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs587780332	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, 5 prime UTR variant, coding sequence variant, genic downstream transcript variant
rs749848324	C>G,T	Pathogenic	Stop gained, missense variant, coding sequence variant, genic downstream transcript variant
rs752178081	C>G,T	Likely-pathogenic	Genic downstream transcript variant, intron variant
rs772286870	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs773020101	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs777106945	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs780742937	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs781254508	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs786205129	TTCT>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs786205601	G>A	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs794727979	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs797045043	G>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs869312936	C>T	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs879255531	C>T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs886037776	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs886039703	G>A	Pathogenic	Intron variant, genic downstream transcript variant
rs886041093	G>A	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs886041450	C>AAG	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs886041797	A>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs886041844	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained, genic downstream transcript variant
rs886042018	C>G	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, genic downstream transcript variant
rs886042048	ATGGA>TGGG	Pathogenic	Coding sequence variant, initiator codon variant, frameshift variant, genic downstream transcript variant
rs886042181	AGAA>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs886063743	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs1057518849	G>A,C	Likely-pathogenic, pathogenic	Splice donor variant, genic downstream transcript variant
rs1057518913	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, splice donor variant, genic upstream transcript variant, missense variant
rs1057524142	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1064793748	G>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1064796085	AG>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1064796996	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1085307734	CT>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1085307748	C>G,T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, missense variant
rs1085307843	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1131691715	->T	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1325669112	C>G,T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, stop gained
rs1429360126	C>A,T	Pathogenic	Synonymous variant, genic downstream transcript variant, coding sequence variant, stop gained
rs1554846052	AGCGATGCCA>CCATT	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1554846766	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1554852597	A>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1554852648	G>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1554852664	C>-,CC	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1554859292	->C	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1554867189	GT>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs1554871138	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1554871182	->A	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1554879411	->G	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant
rs1554879633	->G	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant
rs1554880275	->CCCAAAGCAGCTGTACT	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant
rs1554888910	A>G	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1554888939	G>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1554895172	G>A	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1554896104	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1554896575	TC>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1554896943	TGGAAGACGTAGTTGTGACTGGGAGGGGAAATGGAAGGCCTGTGCCTGCACGTCTGACCCCCCGGCGCCTCTCTTCTCAGTACTGCGTGTGCATCGACGACTGCTCCTCCAGCAACTGCATGTGCGGCCAGCT>-	Pathogenic	Genic downstream transcript variant, splice acceptor variant, coding sequence variant, intron variant
rs1554897110	G>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, splice donor variant
rs1554897763	G>A	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1554897852	CGCGTG>TT	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1554908290	GTCAGCCGGTTC>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, inframe deletion
rs1554908367	->CCGTGC	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, inframe insertion
rs1554908411	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1564704133	G>T	Pathogenic	Stop gained, upstream transcript variant, coding sequence variant, genic upstream transcript variant
rs1564744631	C>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1588481921	->TC	Likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1588533423	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1588533561	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1588553447	C>T	Likely-pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, upstream transcript variant
rs1588642071	->TGATGCGCCCCTCCAACAAGGCCCC	Pathogenic	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, intron variant, frameshift variant
rs1588770875	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1588784791	G>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1588854011	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1588875719	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant

Show/Hide all(120)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001369	hsa-miR-1-3p	pSILAC	18668040
MIRT001369	hsa-miR-1-3p	Proteomics;Other	18668040
MIRT046028	hsa-miR-125b-5p	CLASH	23622248
MIRT044136	hsa-miR-30e-5p	CLASH	23622248
MIRT042121	hsa-miR-484	CLASH	23622248
MIRT040045	hsa-miR-615-3p	CLASH	23622248
MIRT955623	hsa-miR-1231	CLIP-seq
MIRT955624	hsa-miR-1238	CLIP-seq
MIRT955625	hsa-miR-1285	CLIP-seq
MIRT955626	hsa-miR-2052	CLIP-seq
MIRT955627	hsa-miR-2113	CLIP-seq
MIRT955628	hsa-miR-2117	CLIP-seq
MIRT955629	hsa-miR-223	CLIP-seq
MIRT955630	hsa-miR-296-5p	CLIP-seq
MIRT955631	hsa-miR-3065-3p	CLIP-seq
MIRT955632	hsa-miR-3074-5p	CLIP-seq
MIRT955633	hsa-miR-3117-3p	CLIP-seq
MIRT955634	hsa-miR-3130-3p	CLIP-seq
MIRT955635	hsa-miR-3169	CLIP-seq
MIRT955636	hsa-miR-3187-5p	CLIP-seq
MIRT955637	hsa-miR-34b	CLIP-seq
MIRT955638	hsa-miR-375	CLIP-seq
MIRT955639	hsa-miR-4273	CLIP-seq
MIRT955640	hsa-miR-4288	CLIP-seq
MIRT955641	hsa-miR-4464	CLIP-seq
MIRT955642	hsa-miR-4668-3p	CLIP-seq
MIRT955643	hsa-miR-4677-5p	CLIP-seq
MIRT955644	hsa-miR-4710	CLIP-seq
MIRT955645	hsa-miR-4748	CLIP-seq
MIRT955646	hsa-miR-4759	CLIP-seq
MIRT955647	hsa-miR-4792	CLIP-seq
MIRT955648	hsa-miR-4799-5p	CLIP-seq
MIRT955649	hsa-miR-561	CLIP-seq
MIRT955650	hsa-miR-595	CLIP-seq
MIRT955651	hsa-miR-612	CLIP-seq
MIRT955652	hsa-miR-632	CLIP-seq
MIRT955653	hsa-miR-648	CLIP-seq
MIRT955654	hsa-miR-661	CLIP-seq
MIRT955655	hsa-miR-766	CLIP-seq
MIRT955656	hsa-miR-877	CLIP-seq
MIRT955657	hsa-miR-933	CLIP-seq
MIRT955658	hsa-miR-935	CLIP-seq
MIRT1983065	hsa-miR-103b	CLIP-seq
MIRT955627	hsa-miR-2113	CLIP-seq
MIRT1983066	hsa-miR-2355-3p	CLIP-seq
MIRT1983067	hsa-miR-3192	CLIP-seq
MIRT1983068	hsa-miR-3529	CLIP-seq
MIRT1983069	hsa-miR-3612	CLIP-seq
MIRT1983070	hsa-miR-3652	CLIP-seq
MIRT1983071	hsa-miR-3689a-3p	CLIP-seq
MIRT1983072	hsa-miR-3689c	CLIP-seq
MIRT1983073	hsa-miR-379	CLIP-seq
MIRT1983074	hsa-miR-409-3p	CLIP-seq
MIRT1983075	hsa-miR-4328	CLIP-seq
MIRT1983076	hsa-miR-4430	CLIP-seq
MIRT1983077	hsa-miR-4451	CLIP-seq
MIRT1983078	hsa-miR-4474-3p	CLIP-seq
MIRT1983079	hsa-miR-4505	CLIP-seq
MIRT1983080	hsa-miR-4646-3p	CLIP-seq
MIRT1983081	hsa-miR-4650-3p	CLIP-seq
MIRT1983082	hsa-miR-4728-5p	CLIP-seq
MIRT1983083	hsa-miR-4768-3p	CLIP-seq
MIRT1983084	hsa-miR-599	CLIP-seq
MIRT1983085	hsa-miR-650	CLIP-seq
MIRT1983086	hsa-miR-664	CLIP-seq
MIRT1983087	hsa-miR-676	CLIP-seq
MIRT1983088	hsa-miR-891a	CLIP-seq
MIRT1983065	hsa-miR-103b	CLIP-seq
MIRT2218241	hsa-miR-1202	CLIP-seq
MIRT955625	hsa-miR-1285	CLIP-seq
MIRT2218242	hsa-miR-18a	CLIP-seq
MIRT2218243	hsa-miR-18b	CLIP-seq
MIRT2218244	hsa-miR-1908	CLIP-seq
MIRT2218245	hsa-miR-191	CLIP-seq
MIRT2218246	hsa-miR-1972	CLIP-seq
MIRT955628	hsa-miR-2117	CLIP-seq
MIRT955629	hsa-miR-223	CLIP-seq
MIRT1983066	hsa-miR-2355-3p	CLIP-seq
MIRT2218247	hsa-miR-28-3p	CLIP-seq
MIRT955630	hsa-miR-296-5p	CLIP-seq
MIRT955633	hsa-miR-3117-3p	CLIP-seq
MIRT955634	hsa-miR-3130-3p	CLIP-seq
MIRT955635	hsa-miR-3169	CLIP-seq
MIRT955636	hsa-miR-3187-5p	CLIP-seq
MIRT2218248	hsa-miR-3194-5p	CLIP-seq
MIRT2218249	hsa-miR-3661	CLIP-seq
MIRT955638	hsa-miR-375	CLIP-seq
MIRT2218250	hsa-miR-3972	CLIP-seq
MIRT1983074	hsa-miR-409-3p	CLIP-seq
MIRT2218251	hsa-miR-421	CLIP-seq
MIRT955639	hsa-miR-4273	CLIP-seq
MIRT2218252	hsa-miR-4310	CLIP-seq
MIRT955641	hsa-miR-4464	CLIP-seq
MIRT2218253	hsa-miR-4470	CLIP-seq
MIRT1983078	hsa-miR-4474-3p	CLIP-seq
MIRT1983080	hsa-miR-4646-3p	CLIP-seq
MIRT955643	hsa-miR-4677-5p	CLIP-seq
MIRT2218254	hsa-miR-4709-5p	CLIP-seq
MIRT955644	hsa-miR-4710	CLIP-seq
MIRT2218255	hsa-miR-4711-5p	CLIP-seq
MIRT2218256	hsa-miR-4717-5p	CLIP-seq
MIRT2218257	hsa-miR-4722-3p	CLIP-seq
MIRT2218258	hsa-miR-4735-3p	CLIP-seq
MIRT955645	hsa-miR-4748	CLIP-seq
MIRT2218259	hsa-miR-4753-3p	CLIP-seq
MIRT2218260	hsa-miR-4755-3p	CLIP-seq
MIRT955646	hsa-miR-4759	CLIP-seq
MIRT2218261	hsa-miR-4789-5p	CLIP-seq
MIRT955647	hsa-miR-4792	CLIP-seq
MIRT2218262	hsa-miR-548c-3p	CLIP-seq
MIRT2218263	hsa-miR-548u	CLIP-seq
MIRT2218264	hsa-miR-582-5p	CLIP-seq
MIRT955651	hsa-miR-612	CLIP-seq
MIRT2218265	hsa-miR-631	CLIP-seq
MIRT955654	hsa-miR-661	CLIP-seq
MIRT2218266	hsa-miR-663	CLIP-seq
MIRT1983087	hsa-miR-676	CLIP-seq
MIRT955656	hsa-miR-877	CLIP-seq
MIRT955658	hsa-miR-935	CLIP-seq
MIRT2218267	hsa-miR-95	CLIP-seq

Show/Hide all(31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0001226	Function	RNA polymerase II transcription corepressor binding	IPI	29628311
GO:0002039	Function	P53 binding	IPI	20118233
GO:0005515	Function	Protein binding	IPI	16702210, 19061646, 20871592, 21131967, 26496610
GO:0005634	Component	Nucleus	IC	12004135
GO:0005634	Component	Nucleus	IDA	19144645
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0006306	Process	DNA methylation	ISS
GO:0006325	Process	Chromatin organization	IDA	12004135
GO:0008168	Function	Methyltransferase activity	IDA	12004135
GO:0008270	Function	Zinc ion binding	IEA
GO:0016279	Function	Protein-lysine N-methyltransferase activity	IDA	20118233
GO:0016571	Process	Histone methylation	IDA	12004135
GO:0016604	Component	Nuclear body	IDA
GO:0018024	Function	Histone-lysine N-methyltransferase activity	IDA	12004135
GO:0018026	Process	Peptidyl-lysine monomethylation	ISS
GO:0018027	Process	Peptidyl-lysine dimethylation	IDA	20118233
GO:0045892	Process	Negative regulation of transcription, DNA-templated	ISS
GO:0045995	Process	Regulation of embryonic development	ISS
GO:0046974	Function	Histone methyltransferase activity (H3-K9 specific)	ISS
GO:0046976	Function	Histone methyltransferase activity (H3-K27 specific)	ISS
GO:0051567	Process	Histone H3-K9 methylation	IEA
GO:0060992	Process	Response to fungicide	IEA
GO:0070317	Process	Negative regulation of G0 to G1 transition	TAS
GO:0070734	Process	Histone H3-K27 methylation	IEA
GO:0070742	Function	C2H2 zinc finger domain binding	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	24196706
GO:1901796	Process	Regulation of signal transduction by p53 class mediator	TAS

MIM	HGNC	e!Ensembl
607001	24650	ENSG00000181090

Protein

UniProt ID

Q9H9B1

Protein name

Histone-lysine N-methyltransferase EHMT1 (EC 2.1.1.-) (EC 2.1.1.367) (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)

Protein function

Histone methyltransferase that specifically mono- and dimethylates 'Lys-9' of histone H3 (H3K9me1 and H3K9me2, respectively) in euchromatin. H3K9me represents a specific tag for epigenetic transcriptional repression by recruiting HP1 proteins to

PDB

2IGQ , 2RFI , 3B7B , 3B95 , 3FPD , 3HNA , 3MO0 , 3MO2 , 3MO5 , 3SW9 , 3SWC , 4I51 , 5TTG , 5TUZ , 5V9J , 5VSD , 5VSF , 6BY9 , 6MBO , 6MBP , 7T7M , 8XPT

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12796	Ank_2	742 → 836	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	830 → 903	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	910 → 996	Ankyrin repeats (3 copies)	Repeat
PF05033	Pre-SET	1014 → 1118	Pre-SET motif	Family
PF00856	SET	1137 → 1243	SET domain	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:11347906}.

Sequence

MAAADAEAVPARGEPQQDCCVKTELLGEETPMAADEGSAEKQAGEAHMAADGETNGSCEN
SDASSHANAAKHTQDSARVNPQDGTNTLTRIAENGVSERDSEAAKQNHVTADDFVQTSVI
GSNGYILNKPALQAQPLRTTSTLASSLPGHAAKTLPGGAGKGRTPSAFPQTPAAPPATLG
EGSADTEDRKLPAPGADVKVHRARKTMPKSVVGLHAASKDPREVREARDHKEPKEEINKN
ISDFGRQQLLPPFPSLHQSLPQNQCYMATTKSQTACLPFVLAAAVSRKKKRRMGTYSLVP
KKKTKVLKQRTVIEMFKSITHSTVGSKGEKDLGASSLHVNGESLEMDSDEDDSEELEEDD
GHGAEQAAAFPTEDSRTSKESMSEADRAQKMDGESEEEQESVDTGEEEEGGDESDLSSES
SIKKKFLKRKGKTDSPWIKPARKRRRRSRKKPSGALGSESYKSSAGSAEQTAPGDSTGYM
EVSLDSLDLRVKGILSSQAEGLANGPDVLETDGLQEVPLCSCRMETPKSREITTLANNQC
MATESVDHELGRCTNSVVKYELMRPSNKAPLLVLCEDHRGRMVKHQCCPGCGYFCTAGNF
MECQPESSISHRFHKDCASRVNNASYCPHCGEESSKAKEVTIAKADTTSTVTPVPGQEKG
SALEGRADTTTGSAAGPPLSEDDKLQGAASHVPEGFDPTGPAGLGRPTPGLSQGPGKETL
ESALIALDSEKPKKLRFHPKQLYFSARQGELQKVLLMLVDGIDPNFKMEHQNKRSPLHAA
AEAGHVDICHMLVQAGANIDTCSEDQRTPLMEAAENNHLEAVKYLIKAGALVDPKDAEGS
TCLHLAAKKGHYEVVQYLLSNGQMDVNCQDDGGWTPMIWATEYKHVDLVKLLLSKGSDIN
IRDNEENICLHWAAFSGCVDIAEILLAAKCDLHAVNIHGDSPLHIAARENRYDCVVLFLS
RDSDVTLKNKEGETPLQCASLNSQVWSALQMSKALQDSAPDRPSPVERIVSRDIARGYER
IPIPCVNAVDSEPCPSNYKYVSQNCVTSPMNIDRNITHLQYCVCIDDCSSSNCMCGQLSM
RCWYDKDGRLLPEFNMAEPPLIFECNHACSCWRNCRNRVVQNGLRARLQLYRTRDMGWGV
RSLQDIPPGTFVCEYVGELISDSEADVREEDSYLFDLDNKDGEVYCIDARFYGNVSRFIN
HHCEPNLVPVRVFMAHQDLRFPRIAFFSTRLIEAGEQLGFDYGERFWDIKGKLFSCRCGS
PKCRHSSAALAQRQASAAQEAQEDGLPDTSSAAAADPL

Sequence length

1298

Interactions

View interactions

	KEGG		Reactome
	Lysine degradation Metabolic pathways Longevity regulating pathway		Senescence-Associated Secretory Phenotype (SASP) PKMTs methylate histone lysines Regulation of TP53 Activity through Methylation Transcriptional Regulation by VENTX Transcriptional Regulation by E2F6

Show/Hide Causal Diseases (20)

Disease term	Disease name	dbSNP ID	References
Causal
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Autism spectrum disorder	Autism Spectrum Disorders	rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728 View all (51 more)	27651234
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699 View all (8 more)
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852 View all (22 more)
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158 View all (309 more)
Conotruncal defect	Conotruncal defect	rs1564752095, rs1379104498, rs1825112395, rs1825112515, rs1312980498, rs1341550325
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Mental retardation	Severe intellectual disability, Moderate intellectual disability, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Kleefstra syndrome	KLEEFSTRA SYNDROME 1, Kleefstra syndrome, Kleefstra syndrome due to a point mutation, Kleefstra syndrome due to 9q34 microdeletion	rs121918301, rs137852715, rs137852726, rs137852714, rs387907228, rs1554896943, rs137852716, rs137852717, rs137852718, rs1554879411, rs137852720, rs137852721, rs137852722, rs786205129, rs137852724 View all (42 more)	16826528, 27651234, 24362066, 28742076, 22670141, 27767173, 28361100, 29554304, 23175442, 19264732, 25081361, 26633545
Medulloblastoma	Medulloblastoma, Childhood Medulloblastoma, Adult Medulloblastoma, Desmoplastic Medulloblastoma, Melanotic medulloblastoma	rs1589970134, rs587776578, rs587776579, rs17847577, rs111033171, rs80359604, rs80358785, rs80358814, rs863224925, rs1555950011, rs1554231278, rs926177767, rs759412460, rs1564032829, rs761911009	19270706
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805 View all (6 more)
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562 View all (27 more)
Polymicrogyria	Polymicrogyria	rs1558010146, rs1558003446, rs1575508937
Renal insufficiency	Renal Insufficiency	rs1596536873
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)
Skeletal dysplasia	Skeletal dysplasia	rs121912632, rs121912633, rs121912634, rs121912636, rs121912637, rs267607147, rs387906324, rs267607150, rs397514473, rs398123438, rs515726153, rs515726154, rs515726162, rs515726163, rs515726172, rs757011098 View all (1 more)
Tetralogy of fallot	Tetralogy of Fallot	rs28939668, rs727504412, rs864321649, rs774966208, rs876660981, rs886044220, rs1114167357, rs1569484126, rs1569484164, rs1569484122, rs1569484124, rs1569484042, rs1569484120, rs1569484299, rs1569484301, rs1569484288 View all (1 more)
Vesicoureteral reflux	Vesico-Ureteral Reflux	rs587777684, rs148731211

Show/Hide Unknown Diseases (8)

Disease term	Disease name	Source
Unknown
Cholesteatoma	Cholesteatoma	ClinVar
Mental depression	Depressive disorder	ClinVar
Otitis media	Recurrent otitis media	ClinVar
Specific learning disorder	Specific learning disability	ClinVar
Kleefstra Syndrome	Kleefstra syndrome	GenCC
Dermatitis	Dermatitis	GWAS
Metabolic Syndrome	Metabolic Syndrome	GWAS
Asthma	Asthma	GWAS

Show/Hide Text Mining Associations (41)

Disease Name	Relationship Type	References
Associations from Text Mining
Adrenocortical Carcinoma	Associate	36793283
Atherosclerosis	Associate	38144512
Autism Spectrum Disorder	Associate	22890305, 28057753, 28742076, 29317598, 29416845, 32722525
Autistic Disorder	Associate	27789404, 37257768
Carcinogenesis	Associate	34214254
Chromosome Aberrations	Associate	22521361
Chromosome Deletion	Associate	27966372
Colorectal Neoplasms	Associate	35748228
Developmental Disabilities	Associate	25307298, 26993267, 31209758, 36216811, 37257768
Diabetes Mellitus Type 2	Associate	25812118
Fetal Growth Retardation	Associate	38485322
Ganglioglioma	Associate	21681934
Genetic Diseases Inborn	Associate	28057753, 29416845, 36216811
Heart Diseases	Associate	38485322
Intellectual Disability	Associate	28057753, 29416845, 37257768
Kleefstra Syndrome	Associate	19264732, 22890305, 23232695, 25307298, 27789404, 27966372, 28057753, 29228531, 29416845, 30063093, 31209758, 35118825, 35139903, 36216811, 37257768 View all (5 more)
Kleefstra Syndrome	Inhibit	28742076
Language Development Disorders	Associate	22890305
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	25079219
Leukemia Myeloid Acute	Associate	28301528
Leukoplakia	Associate	36444596
Lung Neoplasms	Associate	28615290
Lung Neoplasms	Stimulate	34214254
Mental Disorders	Associate	19264732, 29416845
Muscle Hypotonia	Associate	29416845
Neoplasms	Associate	20118233, 34214254, 37894922
Nervous System Diseases	Associate	21681934, 22890305
Neuroblastoma	Associate	34016720, 37894922
Neurocognitive Disorders	Associate	29416845
Neurodegenerative Diseases	Associate	19264732
Neurodevelopmental Disorders	Associate	19264732
Oncogene Addiction	Stimulate	20118233
Pathological Conditions Anatomical	Associate	37257768
Pediatric acute onset neuropsychiatric syndrome	Associate	29416845
Precursor B Cell Lymphoblastic Leukemia Lymphoma	Associate	30305606
Prostatic Neoplasms	Associate	37663929
Sarcoma Ewing	Associate	37894922
Schizophrenia	Associate	36216811
Squamous Cell Carcinoma of Head and Neck	Associate	36444596
Thakker Donnai syndrome	Associate	38485322
Tourette Syndrome	Associate	37817104

EHMT1 (euchromatic histone lysine methyltransferase 1)