Gene

ehmt1a

ID

ZDB-GENE-040724-44

Name

euchromatic histone-lysine N-methyltransferase 1a

Symbol

ehmt1a Nomenclature History

Previous Names

si:rp71-1o1.6
zgc:136244

Type

protein_coding_gene

Location

Chr: 5 Mapping Details/Browsers

Description

Predicted to enable histone H3K9 methyltransferase activity. Predicted to be involved in macromolecule methylation; negative regulation of transcription by RNA polymerase II; and regulation of histone H3-K9 methylation. Predicted to act upstream of or within histone lysine methylation. Predicted to be active in chromatin 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

2 figures from 2 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:7154822 (1 image)

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 ehmt1a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
Kleefstra syndrome 1	Alliance	Kleefstra syndrome 1	610253

Associated With ehmt1a 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:F1QKB1 InterPro	1059
UniProtKB:Q6ZM72 InterPro	1058
UniProtKB:A0A8M2BJK3 InterPro	1058
UniProtKB:A0A8M9Q809 InterPro	990

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	ehmt1a-201 (1) Ensembl	Ensembl	3,654 nt	Select Tool ZFIN BLAST
mRNA	ehmt1a-202 (1) Ensembl	Ensembl	1,800 nt	Select Tool ZFIN BLAST
mRNA	ehmt1a-203 (1) Ensembl	Ensembl	3,795 nt	Select Tool ZFIN BLAST

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