Gene

smarcd1

ID
ZDB-GENE-030131-1835
Name
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1
Symbol
smarcd1 Nomenclature History
Previous Names
  • BAF60a (1)
  • wu:fa10h07
  • wu:fb82d01 (1)
  • wu:fi45f10 (1)
Type
protein_coding_gene
Location
Chr: 22 Mapping Details/Browsers
Description
Predicted to enable transcription coregulator activity. Acts upstream of or within hemopoiesis; somite development; and spinal cord development. Predicted to be part of SWI/SNF complex. Predicted to be active in nucleus. Is expressed in ventricular zone. Human ortholog(s) of this gene implicated in Coffin-Siris syndrome. Orthologous to human SMARCD1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
8 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
2 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With smarcd1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Coffin-Siris syndrome 11 618779
Associated With smarcd1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR003121 SWIB/MDM2 domain
Domain IPR019835 SWIB domain
Family IPR038041 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1
Homologous_superfamily IPR036885 SWIB/MDM2 domain superfamily
Domain Details Per Protein
Protein Length SWIB domain SWIB/MDM2 domain SWIB/MDM2 domain superfamily SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1
UniProtKB:Q802C8 510
Transcripts
Genome Browsers
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