Statements (52)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
SNF2H
hSNF2H SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5 |
| gptkbp:associatedWith |
intellectual disability
developmental delay growth retardation |
| gptkbp:domain |
gptkb:HSA_domain
gptkb:SANT_domain ATPase domain helicase domain SLIDE domain |
| gptkbp:encodes |
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5
|
| gptkbp:Entrez_Gene_ID |
ENSG00000104951
8467 |
| gptkbp:expressedIn |
many tissues
|
| gptkbp:function |
DNA binding
ATPase activity chromatin remodeling |
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
HGNC:11102
|
| https://www.w3.org/2000/01/rdf-schema#label |
SMARCA5
|
| gptkbp:interactsWith |
gptkb:CHD4
RSF1 BAZ1A BAZ1B SUPT16H |
| gptkbp:involvedIn |
DNA repair
DNA replication transcription regulation nucleosome spacing |
| gptkbp:length |
1052 amino acids
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_4
4q31.21 |
| gptkbp:memberOf |
chromatin remodeling complex
ISWI family |
| gptkbp:molecularWeight |
120 kDa
|
| gptkbp:OMIM |
603725
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Smarca5
|
| gptkbp:participatedIn |
ACF complex
CHRAC complex NoRC complex RSF complex WICH complex |
| gptkbp:regulates |
gene expression
chromatin structure |
| gptkbp:subcellularLocation |
gptkb:nucleus
|
| gptkbp:UniProtID |
O60264
|
| gptkbp:bfsParent |
gptkb:EWSR1
gptkb:MiR100 |
| gptkbp:bfsLayer |
7
|