Entity Details

Primary name SMARCAL1
Entity type gene
Source Source Link

Details

PrimaryID50485
RefseqGeneNG_009771
SymbolSMARCAL1
NameSWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1
Chromosome2
Location2q35
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-03-23
ModificationDate2021-06-22

Ontological Relatives

UniProt IDsSMAL1_HUMAN

GO terms

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GOName
GO:0004386 helicase activity
GO:0005524 ATP binding
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0006281 DNA repair
GO:0006303 double-strand break repair via nonhomologous end joining
GO:0006357 regulation of transcription by RNA polymerase II
GO:0006974 cellular response to DNA damage stimulus
GO:0031297 replication fork processing
GO:0035861 site of double-strand break
GO:0036310 ATP-dependent DNA/DNA annealing activity
GO:0043596 nuclear replication fork
GO:0048478 replication fork protection
GO:0070615 nucleosome-dependent ATPase activity
GO:0090656 t-circle formation

Diseases

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Disease IDSourceNameDescription
242900 OMIMSchimke immuno-osseous dysplasia (SIOD)An autosomal recessive pleiotropic disorder characterized by spondyloepiphyseal dysplasia, renal dysfunction and immunodeficiency. Arteriosclerosis may also occur in some case. The disease is caused by variants affecting the gene represented in this entry.