Rabbit Anti-SmarcAL1 antibody

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HARP; HepA Related Protein; HepA-related protein; hHARP; SIOD; SMAL1_HUMAN; SMARCA like Protein 1; smarcal1; Sucrose nonfermenting protein 2 like 1; Sucrose nonfermenting protein 2-like 1; SWI/SNF Related; SWI/SNF related matrix associated acti

Cat:

SL19923R

Species Reactivity：

(predicted: Human,Mouse,Rat,Cow,Horse,Sheep,)

Immunogen：

KLH conjugated synthetic peptide derived from human SmarcAL1:581-680/954

Format：

Liquid

Storage instructions：

Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.

Concentration：

1mg/ml

Clonality：

Polyclonal

Isotype：

IgG

Applications：

ELISA=1:5000-10000IHC-P=1:100-500IHC-F=1:100-500ICC=1:100-500IF=1:100-500（Paraffin sections need to do antigen repair）not yet tested in other applications.optimal dilutions/concentrations should be determined by the end user.

Host：

Rabbit

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Unit:

Price: $228.00

Product PDFs

Datasheet: Down Datasheet

Other Information
Citations
Protein Attributes
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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]

Function:
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.

Subunit:
Interacts with RPA2; the interaction is direct and mediates the recruitment by the RPA complex of SMARCAL1 to sites of DNA damage.

Subcellular Location:
Nucleus.

Tissue Specificity:
Ubiquitously expressed, with high levels in testis.

DISEASE:
Defects in SMARCAL1 are a cause of Schimke immuno-osseous dysplasia (SIOD) [MIM:24580]. SIOD causes spondyloepiphyseal dysplasia, renal dysfunction and T-cell immunodeficiency. Approximately half of all patients also exhibit hyperthyroidism, while around half also exhibit episodal cerebral ischema.

Similarity:
Belongs to the SNF2/RAD54 helicase family.
SMARCAL1 subfamily.
Contains 2 HARP domains.
Contains 1 helicase ATP-binding domain.
Contains 1 helicase SLCterminal domain.

SWISS:
Q9NZC9

Gene ID:
50485

Database links:

Entrez Gene: 338072 Cow

Entrez Gene: 50485 Human

Entrez Gene: 5876 Mouse

Entrez Gene: 316477 Rat

Omim: 606622 Human

SwissProt: Q9TTA5 Cow

SwissProt: Q9NZC9 Human

SwissProt: Q8BJL0 Mouse

SwissProt: B4F769 Rat

Unigene: 516674 Human

Unigene: 274232 Mouse

Unigene: 34679 Rat

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