Antibody Name:	Anti-SMARCAL1 Antibody
Antibody SKU:	CAB16524
Antibody Size:	20uL, 50uL, 100uL
Application:	WB
Reactivity:	Human, Mouse
Host Species:	Rabbit
Immunogen:	A synthetic peptide corresponding to a sequence within amino acids 800-900 of human SMARCAL1 (NP_001120679.1).

Application:	WB
Recommended Dilution:	WB 1:500 - 1:2000
Reactivity:	Human, Mouse
Positive Samples:

Immunogen:	A synthetic peptide corresponding to a sequence within amino acids 800-900 of human SMARCAL1 (NP_001120679.1).
Purification Method:	Affinity purification
Storage Buffer:	Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:	IgG
Sequence:	VFAE LFWN PGVL IQAE DRVH RIGQ TSSV GIHY LVAK GTAD DYLW PLIQ EKIK VLAE AGLS ETNF SEMT ESTD YLYK DPKQ QKIY DLFQ KSFE KEGS DMEL L
Gene ID:	50485
Uniprot:	Q9NZC9
Cellular Location:	Nucleus
Calculated MW:	105kDa
Observed MW:	Refer to figures

Synonyms:

SMARCAL1, HARP, HHARP

Background:

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.

UniProt Protein Function:	SMARCAL1: 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. Defects in SMARCAL1 are a cause of Schimke immuno-osseous dysplasia (SIOD). 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. Belongs to the SNF2/RAD54 helicase family. SMARCAL1 subfamily.
UniProt Protein Details:	Protein type:EC 3.6.4.-; EC 3.6.1.-; Helicase Chromosomal Location of Human Ortholog: 2q35 Cellular Component: nucleoplasm; DNA replication factor A complex; nucleus Molecular Function:DNA-dependent ATPase activity; protein binding; DNA binding; helicase activity; ATP binding Biological Process: regulation of transcription from RNA polymerase II promoter; DNA strand renaturation; chromatin modification; DNA repair; response to DNA damage stimulus; DNA metabolic process; replication fork processing Disease: Immunoosseous Dysplasia, Schimke Type
NCBI 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]
UniProt Code:	Q9NZC9
NCBI GenInfo Identifier:	60390962
NCBI Gene ID:	50485
NCBI Accession:	Q9NZC9.1
UniProt Related Accession:	Q9NZC9
Molecular Weight:	105kDa
NCBI Full Name:	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1
NCBI Synonym Full Names:	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1
NCBI Official Symbol:	SMARCAL1
NCBI Official Synonym Symbols:	HARP; HHARP
NCBI Protein Information:	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1
UniProt Protein Name:	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1
UniProt Synonym Protein Names:	HepA-related protein; hHARP; Sucrose nonfermenting protein 2-like 1
UniProt Gene Name:	SMARCAL1
UniProt Entry Name:	SMAL1_HUMAN