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 have histone-lysine N-methyltransferase activity; p53 binding activity; and zinc ion binding activity. Predicted to be involved in histone lysine methylation. Predicted to localize to chromosome and 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

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

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	IPR047762	EHMT1/2, cysteine-rich region
Family	IPR043550	Histone-lysine N-methyltransferase EHMT1/EHMT2
Homologous_superfamily	IPR036770	Ankyrin repeat-containing domain superfamily
Homologous_superfamily	IPR046341	SET domain superfamily
Repeat	IPR002110	Ankyrin repeat

Domain Details Per Protein

Protein	Length	Ankyrin repeat	Ankyrin repeat-containing domain superfamily	EHMT1/2, cysteine-rich region	Histone-lysine N-methyltransferase EHMT1/EHMT2	Pre-SET domain	SET domain	SET domain superfamily
UniProtKB:A0A8M1NVV8 InterPro	1278
UniProtKB:A0A8M9PI65 InterPro	1285
UniProtKB:A0A8M3AWQ8 InterPro	1265
UniProtKB:A0A8M3AM13 InterPro	1286
UniProtKB:A0A8M3B4K4 InterPro	1288
UniProtKB:A0A8M9PQC0 InterPro	1247
UniProtKB:A0A8M9PTR6 InterPro	1278
UniProtKB:A0A8M2B810 InterPro	1280
UniProtKB:A0A8M9P384 InterPro	1295
UniProtKB:A0A8M9PCJ6 InterPro	1287

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	ehmt1b-202 (1) Ensembl	Havana	4502 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
ncRNA	ehmt1b-002 (1) Ensembl	Havana	918 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
ncRNA	ehmt1b-003 (1) Ensembl	Havana	862 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
ncRNA	ehmt1b-004 (1) Ensembl	Havana	625 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

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