Ehmt1 - euchromatic histone methyltransferase 1 Gene
Also Known as GLP; GLP1; KMT1D; mKIAA1876; D330003E03; Eu-HMTase1; 9230102N17Rik
Species: Mus musculus
About Ehmt1
This gene has 18 transcripts (splice variants), 314 orthologues, 20 paralogues and is associated with 82 phenotypes. Ubiquitous expression in CNS E11.5 (RPKM 26.6), whole brain E14.5 (RPKM 23.) and 28 other tissues.
Summary
Enables C2H2 zinc finger domain binding activity; Histone Methyltransferase activity (H3-K27 specific); and Histone Methyltransferase activity (H3-K9 specific). Involved in several processes, including macromolecule methylation; negative regulation of transcription, DNA-templated; and positive regulation of cold-induced thermogenesis. Acts upstream of or within negative regulation of transcription by RNA polymerase II. Located in nucleus. Is expressed in several structures, including alimentary system; forelimb; integumental system; nervous system; and respiratory system. Used to study Kleefstra syndrome 1. Human ortholog(s) of this gene implicated in Kleefstra syndrome and Kleefstra syndrome 1. Orthologous to human EHMT1 (euchromatic histone lysine methyltransferase 1). [provided by Alliance of Genome Resources, Apr 2022]
Ehmt1 Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_001012518.3 | NP_001012536.2 | histone-lysine N-methyltransferase EHMT1 isoform 1 |
| NM_001109687.2 | NP_001103157.1 | histone-lysine N-methyltransferase EHMT1 isoform 4 |
| NM_001109686.2 | NP_001103156.1 | histone-lysine N-methyltransferase EHMT1 isoform 3 |
| NM_172545.4 | NP_766133.2 | histone-lysine N-methyltransferase EHMT1 isoform 2 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables C2H2 zinc finger domain binding |
IPI
IPI: Inferred from physical interaction
|
16702210 | MGI |
| enables histone H3K27 methyltransferase activity |
IDA
IDA: Inferred from direct assay
|
15774718 | MGI |
| enables histone H3K9 methyltransferase activity |
IDA
IDA: Inferred from direct assay
|
15774718 | MGI |
| enables histone H3K9 methyltransferase activity |
IMP
IMP: Inferred from mutant phenotype
|
18818694 | MGI |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
15774718 | MGI |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in DNA methylation-dependent heterochromatin formation |
IDA
IDA: Inferred from direct assay
|
18818694 | MGI |
| involved in facultative heterochromatin formation |
IDA
IDA: Inferred from direct assay
|
19010785 | MGI |
| involved in negative regulation of DNA-templated transcription |
IMP
IMP: Inferred from mutant phenotype
|
21131967 | MGI |
| acts upstream of or within negative regulation of transcription by RNA polymerase II |
IMP
IMP: Inferred from mutant phenotype
|
17392792 | MGI |
| involved in peptidyl-lysine dimethylation |
IMP
IMP: Inferred from mutant phenotype
|
15774718 | MGI |
| involved in peptidyl-lysine monomethylation |
IMP
IMP: Inferred from mutant phenotype
|
15774718 | MGI |
| involved in positive regulation of cold-induced thermogenesis |
IMP
IMP: Inferred from mutant phenotype
|
24196706 | MGI |
| involved in regulation of embryonic development |
IMP
IMP: Inferred from mutant phenotype
|
15774718 | MGI |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
15774718 | MGI |
Ehmt1 Protein Structure
EHMT_ZBD: cd20905 (506 - 636)
PHA03095: cl33707 (744 - 970)
ANK: sd00045 (764 - 793)
ANK: sd00045 (795 - 826)
Ank_2: pfam12796 (800 - 893)
ANK: sd00045 (828 - 860)
ANK: sd00045 (862 - 893)
ANK: sd00045 (895 - 926)
ANK: sd00045 (928 - 959)
SET_EHMT1: cd10535 (1026 - 1256)
- 0
- 200
- 400
- 600
- 800
- 1000
- 1200
- 1289 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
histone-lysine N-methyltransferase EHMT1 |
|
|