setd1a

ID

ZDB-GENE-080521-4

Name

SET domain containing 1A, histone lysine methyltransferase

Symbol

setd1a Nomenclature History

Previous Names

None

Type

protein_coding_gene

Location

Chr: 3 Mapping Details/Browsers

Genome Assembly

GRCz12tu

Annotation Status

Current

Description

Predicted to enable histone H3K4 methyltransferase activity. Predicted to act upstream of or within chromatin organization and methylation. Predicted to be located in chromosome and nucleus. Predicted to be part of Set1C/COMPASS complex. Human ortholog(s) of this gene implicated in early-onset epilepsy 2 and neurodevelopmental disorder with speech impairment and dysmorphic facies. Orthologous to human SETD1A (SET domain containing 1A, histone lysine methyltransferase).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

No data available

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

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 setd1a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
early-onset epilepsy 2	Alliance	Epilepsy, early-onset, 2, with or without developmental delay	618832
neurodevelopmental disorder with speech impairment and dysmorphic facies	Alliance	Neurodevelopmental disorder with speech impairment and dysmorphic facies	619056

Associated With setd1a Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR000504	RNA recognition motif domain
Domain	IPR001214	SET domain
Domain	IPR003616	Post-SET domain
Domain	IPR024657	COMPASS complex Set1 subunit, N-SET domain
Domain	IPR034467	Set1A, RNA recognition motif
Domain	IPR037841	Histone-lysine N-methyltransferase SETD1A/B-like, SET domain
Family	IPR044570	Histone-lysine N-methyltransferase Set1-like
Homologous_superfamily	IPR012677	Nucleotide-binding alpha-beta plait domain superfamily
Homologous_superfamily	IPR035979	RNA-binding domain superfamily
Homologous_superfamily	IPR046341	SET domain superfamily

Domain Details Per Protein

Protein	Additional Resources	Length
UniProtKB:A0A8M9PSI4	InterPro	2252
UniProtKB:A0A8M1QQT7	InterPro	2253
UniProtKB:E9QGQ0	InterPro	2253
UniProtKB:A0A8M2BBI9	InterPro	2252
UniProtKB:A0A8M9PER0	InterPro	2253
UniProtKB:A0A8M9PXP4	InterPro	2252
UniProtKB:A0AC58J2H9	InterPro	2252