Homo sapiens Gene: SMARCAL1 | |||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Summary | |||||||||||||||||||
InnateDB Gene | IDBG-80649.5 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | SMARCAL1 | ||||||||||||||||||
Gene Name | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 | ||||||||||||||||||
Synonyms | |||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Gene | ENSG00000138375 | ||||||||||||||||||
Encoded Proteins |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
|
||||||||||||||||||
Protein Structure | |||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
Entrez Gene | |||||||||||||||||||
Summary |
The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency. [provided by RefSeq, Jul 2008] |
||||||||||||||||||
Gene Information | |||||||||||||||||||
Type | Protein coding | ||||||||||||||||||
Genomic Location | Chromosome 2:216412414-216483053 | ||||||||||||||||||
Strand | Forward strand | ||||||||||||||||||
Band | q35 | ||||||||||||||||||
Transcripts | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
|
||||||||||||||||||
Gene Ontology | |||||||||||||||||||
Molecular Function |
|
||||||||||||||||||
Biological Process |
|
||||||||||||||||||
Cellular Component |
|
||||||||||||||||||
Orthologs | |||||||||||||||||||
Species
Mus musculus
Bos taurus
|
Gene ID
Gene Order
Not yet available
|
||||||||||||||||||
Pathways | |||||||||||||||||||
NETPATH | |||||||||||||||||||
REACTOME | |||||||||||||||||||
KEGG | |||||||||||||||||||
INOH | |||||||||||||||||||
PID NCI |
ATR signaling pathway
|
||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | |||||||||||||||||||
TrEMBL | |||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | |||||||||||||||||||
UniGene | Hs.516674 | ||||||||||||||||||
RefSeq | NM_001127207 NM_014140 XM_005246631 XM_005246632 XM_006712557 | ||||||||||||||||||
HUGO | |||||||||||||||||||
OMIM | |||||||||||||||||||
CCDS | CCDS2403 | ||||||||||||||||||
HPRD | 05969 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | |||||||||||||||||||
GenPept | |||||||||||||||||||
RNA Seq Atlas | |||||||||||||||||||