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
ENST00000357276 ENSP00000349823
ENST00000358207 ENSP00000350940
ENST00000392128 ENSP00000375974
ENST00000430374 ENSP00000405077
ENST00000444508 ENSP00000398969
ENST00000425815 ENSP00000394410
ENST00000434435 ENSP00000402967
ENST00000427645 ENSP00000392997
ENST00000412913 ENSP00000390248
ENST00000445153 ENSP00000400473
ENST00000496037
ENST00000479008
ENST00000486983
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated
Total 8 [view]
Protein-Protein 7 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0004386 helicase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008094 DNA-dependent ATPase activity
GO:0036310 annealing helicase activity
Biological Process
GO:0000733 DNA strand renaturation
GO:0006200 ATP catabolic process
GO:0006259 DNA metabolic process
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006974 cellular response to DNA damage stimulus
GO:0008152 metabolic process
GO:0016568 chromatin modification
GO:0031297 replication fork processing
Cellular Component
GO:0005634 nucleus
GO:0005662 DNA replication factor A complex
GO:0035861 site of double-strand break
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
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