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Gene

ehmt1b

ID
ZDB-GENE-080515-3
Name
euchromatic histone-lysine N-methyltransferase 1b
Symbol
ehmt1b Nomenclature History
Previous Names
None
Type
protein_coding_gene
Location
Chr: 21 Mapping Details/Browsers
Description
Predicted to enable histone-lysine N-methyltransferase activity; p53 binding activity; and zinc ion binding activity. Predicted to act upstream of or within histone lysine methylation. Predicted to be located in nucleus. Human ortholog(s) of this gene implicated in Kleefstra syndrome and Kleefstra syndrome 1. Orthologous to human EHMT1 (euchromatic histone lysine methyltransferase 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
1 figure from Sun et al., 2008
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With ehmt1b Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Kleefstra syndrome 1 Alliance Kleefstra syndrome 1 610253
Associated With ehmt1b Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR001214 SET domain
Domain IPR007728 Pre-SET domain
Domain IPR020683 Ankyrin repeat-containing domain
Family IPR038035 Histone-lysine N-methyltransferase EHMT1
Family IPR043550 Histone-lysine N-methyltransferase EHMT1/EHMT2
Homologous_superfamily IPR036770 Ankyrin repeat-containing domain superfamily
Repeat IPR002110 Ankyrin repeat
Domain Details Per Protein
Protein Length Ankyrin repeat Ankyrin repeat-containing domain Ankyrin repeat-containing domain superfamily Histone-lysine N-methyltransferase EHMT1 Histone-lysine N-methyltransferase EHMT1/EHMT2 Pre-SET domain SET domain
UniProtKB:F1QJX1 1278
UniProtKB:Q071D8 175
UniProtKB:A0A2R8QQP4 1277
UniProtKB:A5XBP2 153
UniProtKB:Q7SXC3 397
UniProtKB:F1QUP3 1005
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations