Gene

smarce1

ID
ZDB-GENE-030131-967
Name
SWI/SNF related BAF chromatin remodeling complex subunit E1
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 enable nuclear receptor binding activity. Acts upstream of or within endocardium morphogenesis and iridophore differentiation. Predicted to be located in nucleus. Predicted to be part of SWI/SNF complex. Is expressed in telencephalon. Human ortholog(s) of this gene implicated in Coffin-Siris syndrome 5; familial meningioma; and meningioma. Orthologous to human SMARCE1 (SWI/SNF related BAF chromatin remodeling complex subunit E1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
3 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
8 figures from 3 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
sa12524Allele with one point mutationUnknownPremature StopENU
sa12565Allele with one point mutationUnknownPremature StopENU
sa18758unknownUnknownUnknownENU
sa20071Allele with one point mutationUnknownPremature StopENU
sa33229Allele with one point mutationUnknownPremature StopENU
una1Allele with one deletionUnknownUnknownCRISPR
una2Allele with one deletionUnknownUnknownCRISPR
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Sequence Targeting Reagents
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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
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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
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Domain Details Per Protein
Protein Additional Resources 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
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 3
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA smarce1-201 (1) Ensembl 1,995 nt
mRNA smarce1-202 (1) Ensembl 2,072 nt
mRNA smarce1-203 (1) Ensembl 1,263 nt
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Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACDKEY-15H19ZFIN Curated Data
EncodesESTfb33d02
EncodesESTfb54d11
EncodescDNAMGC:55303ZFIN Curated Data
EncodescDNAMGC:77275ZFIN Curated Data
EncodescDNAMGC:191900ZFIN Curated Data
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanSMARCE117
Conserved genome location (synteny) (2)
Amino acid sequence comparison (2)
MouseSmarce111
Amino acid sequence comparison (1)
Conserved genome location (synteny) (1)
Citations
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