EHMT1 - euchromatic histone lysine methyltransferase 1 Gene
Also Known as GLP; GLP1; KMT1D; KLEFS1; FP13812; EHMT1-IT1; EUHMTASE1; Eu-HMTase1
Species: Homo sapiens
About EHMT1
This gene has 52 transcripts (splice variants), 314 orthologues, 19 paralogues and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 9.7), spleen (RPKM 7.2) and 25 other tissues.
Summary
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 in the silencing of MYC- and E2F-responsive genes and therefore could play a role in the G0/G1 cell cycle transition. Defects in this gene are a cause of chromosome 9q subtelomeric deletion syndrome (9q-syndrome, also known as Kleefstra syndrome). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2017]
EHMT1 Products (37)
| mRNA | Protein | Name |
|---|---|---|
| XM_047423881.1 | XP_047279837.1 | histone-lysine N-methyltransferase EHMT1 isoform X13 |
| XM_047423890.1 | XP_047279846.1 | histone-lysine N-methyltransferase EHMT1 isoform X26 |
| XM_047423888.1 | XP_047279844.1 | histone-lysine N-methyltransferase EHMT1 isoform X22 |
| XM_047423880.1 | XP_047279836.1 | histone-lysine N-methyltransferase EHMT1 isoform X12 |
| XM_011519029.4 | XP_011517331.1 | histone-lysine N-methyltransferase EHMT1 isoform X24 |
| XM_024447677.2 | XP_024303445.1 | histone-lysine N-methyltransferase EHMT1 isoform X18 |
| NM_024757.5 | NP_079033.4 | histone-lysine N-methyltransferase EHMT1 isoform 1 |
| NM_001039765.1 | ||
| XM_047423883.1 | XP_047279839.1 | histone-lysine N-methyltransferase EHMT1 isoform X15 |
| XM_047423876.1 | XP_047279832.1 | histone-lysine N-methyltransferase EHMT1 isoform X9 |
| XM_024447678.2 | XP_024303446.2 | histone-lysine N-methyltransferase EHMT1 isoform X19 |
| XM_047423873.1 | XP_047279829.1 | histone-lysine N-methyltransferase EHMT1 isoform X6 |
| NM_001354612.2 | NP_001341541.1 | histone-lysine N-methyltransferase EHMT1 isoform 6 |
| XM_017015134.2 | XP_016870623.1 | histone-lysine N-methyltransferase EHMT1 isoform X5 |
| XM_047423889.1 | XP_047279845.1 | histone-lysine N-methyltransferase EHMT1 isoform X23 |
| XM_011519031.2 | XP_011517333.1 | histone-lysine N-methyltransferase EHMT1 isoform X26 |
| XM_047423879.1 | XP_047279835.1 | histone-lysine N-methyltransferase EHMT1 isoform X11 |
| XM_047423887.1 | XP_047279843.1 | histone-lysine N-methyltransferase EHMT1 isoform X21 |
| XM_017015138.2 | XP_016870627.1 | histone-lysine N-methyltransferase EHMT1 isoform X11 |
| XM_047423875.1 | XP_047279831.1 | histone-lysine N-methyltransferase EHMT1 isoform X8 |
| XM_011519023.4 | XP_011517325.1 | histone-lysine N-methyltransferase EHMT1 isoform X4 |
| XM_011519030.4 | XP_011517332.1 | histone-lysine N-methyltransferase EHMT1 isoform X25 |
| XM_047423882.1 | XP_047279838.1 | histone-lysine N-methyltransferase EHMT1 isoform X14 |
| XM_047423878.1 | XP_047279834.1 | histone-lysine N-methyltransferase EHMT1 isoform X10 |
| XM_047423872.1 | XP_047279828.1 | histone-lysine N-methyltransferase EHMT1 isoform X3 |
| NM_001354263.2 | NP_001341192.1 | histone-lysine N-methyltransferase EHMT1 isoform 4 |
| NM_001354259.2 | NP_001341188.1 | histone-lysine N-methyltransferase EHMT1 isoform 3 |
| XM_005266110.2 | XP_005266167.1 | histone-lysine N-methyltransferase EHMT1 isoform X10 |
| NM_001354611.2 | NP_001341540.1 | histone-lysine N-methyltransferase EHMT1 isoform 5 |
| XM_047423885.1 | XP_047279841.1 | histone-lysine N-methyltransferase EHMT1 isoform X17 |
| XM_047423884.1 | XP_047279840.1 | histone-lysine N-methyltransferase EHMT1 isoform X16 |
| XM_011519021.4 | XP_011517323.1 | histone-lysine N-methyltransferase EHMT1 isoform X1 |
| XM_011519022.4 | XP_011517324.1 | histone-lysine N-methyltransferase EHMT1 isoform X2 |
| NM_001145527.2 | NP_001138999.1 | histone-lysine N-methyltransferase EHMT1 isoform 2 |
| XM_047423886.1 | XP_047279842.1 | histone-lysine N-methyltransferase EHMT1 isoform X20 |
| XM_047423874.1 | XP_047279830.1 | histone-lysine N-methyltransferase EHMT1 isoform X7 |
| XM_047423877.1 | XP_047279833.1 | histone-lysine N-methyltransferase EHMT1 isoform X10 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables histone H3K9 methyltransferase activity |
IDA
IDA: Inferred from direct assay
|
12004135 | GOA |
| enables methyltransferase activity |
IDA
IDA: Inferred from direct assay
|
12004135 | GOA |
| enables p53 binding |
IPI
IPI: Inferred from physical interaction
|
20118233 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
16702210 | GOA |
| enables protein-lysine N-methyltransferase activity |
IDA
IDA: Inferred from direct assay
|
20118233 | GOA |
| enables transcription corepressor binding |
IPI
IPI: Inferred from physical interaction
|
29628311 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in chromatin organization |
IDA
IDA: Inferred from direct assay
|
12004135 | GOA |
| involved in peptidyl-lysine dimethylation |
IDA
IDA: Inferred from direct assay
|
20118233 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
19144645 | GOA |
EHMT1 Protein Structure
Ank: Ankyrin repeat (774 - 800)
Ank_2: Ankyrin repeats (3 copies) (810 - 903)
Ank_2: Ankyrin repeats (3 copies) (910 - 985)
Pre-SET: Pre-SET motif (1013 - 1118)
SET: SET domain (1137 - 1243)
- 0
- 200
- 400
- 600
- 800
- 1000
- 1200
- 1298 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
histone-lysine N-methyltransferase EHMT1 |
|
|
EHMT1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
EHMT1 | Q9H9B1 | MPHOSPH8 | Homo sapiens | Q99549 | 20871592 | |
|
Cross
|
EHMT1 | Q9H9B1 | Rela | Mus musculus | Q04207 | 21131967 | |
|
Cross
|
EHMT1 | Q9H9B1 | Rela | Mus musculus | Q04207 | 21131967 | |
|
Intra
|
EHMT1 | Q9H9B1 | RELA | Homo sapiens | Q04206 | 21131967 |
EHMT1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P85132 | EHMT1 Antibody (YA4824) | WB, ELISA | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
|
| Mowat-Wilson Syndrome |
|
|
| Autosomal Dominant Intellectual Developmental Disorder 31 |
|
|
| Kleefstra Syndrome Due To A Point Mutation |
|
|
| Kleefstra Syndrome 2 |
|
|
| Chromosomal Deletion Syndrome |
|
|
| Sotos Syndrome |
|
|
| Williams-Beuren Syndrome |
|
|
| Kleefstra Syndrome |
|
|
| Congenital Nervous System Abnormality |
|
|
| Chromosome 16p13.3 Deletion Syndrome, Proximal |
|
|
| Hypoplastic Left Heart Syndrome |
|
|
| Chromosome 2q37 Deletion Syndrome |
|
|
| Kabuki Syndrome 1 |
|
|
| Syndromic Intellectual Disability |
|
|
| Wolf-Hirschhorn Syndrome |
|
|
| Schizophrenia |
|
|
| Kleefstra Syndrome 1 |
|
|
| Christianson Syndrome |
|
|
| Autism Spectrum Disorder |
|
|
| Pitt-Hopkins Syndrome |
|
|
| Weaver Syndrome |
|
|
| Autism |
|
|
| Ogden Syndrome |
|
|
| Polymicrogyria |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | EHMT1 | VGNC | VGNC:51953 |
| Mus musculus | EHMT1 | MGD | MGI:1924933 |
| Bos taurus | EHMT1 | VGNC | VGNC:59215 |
| Macaca mulatta | EHMT1 | VGNC | VGNC:103258 |
| Felis catus | EHMT1 | VGNC | VGNC:102922 |
| Rattus norvegicus | EHMT1 | RGD | RGD:1307588 |
| Others | EHMT1 | NCBI |