Gene

smarce1

ID

ZDB-GENE-030131-967

Name

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1

Symbol

smarce1 Nomenclature History

Previous Names

baf57 (1)
fb33d02
fb54d11
wu:fb33d02 (1)
wu:fb54d11 (1)

Type

protein_coding_gene

Location

Chr: 3 Mapping Details/Browsers

Description

Predicted to have nuclear receptor binding activity. Involved in endocardium morphogenesis. Predicted to localize to SWI/SNF complex. Human ortholog(s) of this gene implicated in familial meningioma. Orthologous to human SMARCE1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

3 figures from 3 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

MGC:55303 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 6 figures from 2 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With smarce1 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
Coffin-Siris syndrome 5	Alliance	Coffin-Siris syndrome 5	616938
		{Meningioma, familial, susceptibility to}	607174

Associated With smarce1 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR009071	High mobility group box domain
Homologous_superfamily	IPR036910	High mobility group box domain superfamily

Domain Details Per Protein

Protein	Length	High mobility group box domain	High mobility group box domain superfamily
UniProtKB:A0A8M2BBH2 InterPro	422
UniProtKB:A0A8M9PJR1 InterPro	391
UniProtKB:A0A8M9P4E1 InterPro	387
UniProtKB:A0A8M3AQX7 InterPro	424
UniProtKB:Q803S1 InterPro	420
UniProtKB:A0A8M2BB53 InterPro	426