Symbol: Name: ID: |
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 GFS:1010 |
Gene name: | SMARCAL1 |
Chromosome: | 2q35 |
Previous Symbols: | |
Previous Names: | |
Aliases: | HHARP, HARP |
Name Aliases: | HepA-related protein, |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1859183 | Rat Genome Database ID: | RGD:1306134 |
HGNC ID: | HGNC:11102 | RefSeq IDs: | NM_001127207 |
Entrez Gene ID: | 50485 | Ensembl Gene ID: | |
VEGA IDs: | OTTHUMG00000133055 | UniProt ID: | Q9NZC9 |
UCSC ID: | uc002vgd.3 | OMIM ID: | 606622 |
Pubmed: | PMID10713074 PMID 10857751 PMID 18974355 | ||
CCDS IDs: | CCDSCCDS2403.1 |
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1 is a protein that in humans is encoded by the SMARCAL1 gene. 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].
ATP-dependent annealing helicase that catalyzes the rewinding of the stably unwound DNA. Rewinds single-stranded DNA bubbles that are stably bound by replication protein A (RPA). Acts throughout the genome to reanneal stably unwound DNA, performing the opposite reaction of many enzymes, such as helicases and polymerases, that unwind DNA.
Products for SMARCAL1 gene
Catalog | Product Name | Application | Company |
GFS:E01010 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1; ELISA kit | ELISA | n/a |
GFS:A01010 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1; Anti | ANTIBODIES | n/a |
GFS:P01010 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1; Protien | Protien | n/a |