Product Name
SMARCAL1, cDNA Clone
Full Product Name
SMARCAL1 cDNA Clone
Product Gene Name
SMARCAL1 cdna clone
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Sequence
atgtccttgc ctcttacaga ggagcagagg aaaaagattg aagagaatcg acaaaaggct ctggcccgca gagctgagaa gttattggca gaacagcatc agaggactag ctcgggcacc tccattgctg gcaacccatt ccaggccaag caaggcccat cccaaaattt cccaagggag tcttgtaagc cagtgagcca tggtgtcatt ttcaagcaac agaatctcag tagctcatct aatgctgacc aaagacctca tgattcccac agttttcagg caaagggaat atggaaaaag ccagaagaaa tgcccacagc ctgcccaggc cacagtccac gtagtcaaat ggctctcact ggaatctctc ctcccttggc acaaagtcct ccagaggtcc ctaaacaaca gctcttgagt tatgagttag gtcaaggtca tgctcaggct tcacctgaga tcaggttcac accctttgct aacccaactc ataagcctct ggccaaacca aagagttccc aagagacacc agctcattcc tctggacagc ctcccaggga tgctaagtta gaggccaaga cagcaaaagc ctccccttcg gggcagaaca tttcttacat ccattctagc tcagagagtg taacgcccag gacagaagga agactccagc agaagtcagg gtcctcagtc caaaaaggag tgaactctca gaagggaaag tgcgtaagga acggcgatcg tttccaggtg ttgattgggt acaatgcgga actcattgca gtgtttaaga ccctgcccag caagaattat gatcctgaca ccaagacgtg gaacttcagc atgaatgact atagtgccct gatgaaagca gcccagagcc tccccacggt caacctgcag cctctggaat gggcctatgg cagcagcgag tcaccctcca ccagcagtga gggacaggcc ggccttccat cagctccatc cctttcattt gtcaaagggc gatgcatgct catctccagg gcctacttcg aggcagacat cagttattca caggacctta ttgcgctttt taaacagatg gattccagaa gatatgatgt caagaccagg aagtggagct ttctcttgga agagcacagt aaactaattg caaaggtgcg ctgcctccca caagttcagc tggaccctct gcccacgact ctcaccctgg cgtttgcttc tcagctcaag aagacatctc tcagtctcac gccagatgtc ccagaggcag acctttctga agtggacccc aagctcgtgt ctaatctgat gccctttcag agagctggag tcaattttgc catagccaaa ggaggccgcc tgctgctcgc tgacgacatg ggcctgggga agaccatcca agccatctgc atcgcagcct tttaccggaa ggagtggccg ctcctggtgg tggtgccatc ctccgtgcgc ttcacctggg agcaggcctt ccttcggtgg ctgccatctc tgagcccaga ttgcatcaac gtcgtggtga ctgggaagga ccgcctgaca gctggcctga tcaacattgt cagctttgac cttcttagca agttggaaaa acagctaaaa acccctttta aagttgtcat cattgatgaa tctcacttcc tcaaaaacag taggactgcc cgctgtcgag cagctatgcc ggtcctaaag gttgccaaga gggtgatcct gttgtcgggc acaccagcca tgtcccggcc cgcagagctc tacacgcaga tcatcgcagt caagccaact ttcttccccc agtttcatgc ctttggactt cgctactgtg atgccaaacg gatgccttgg gggtgggact actcaggttc ctccaacctg ggagagctga agctcctgct ggaggaagca gtcatgctgc ggcgcctcaa gtccgacgtc ctttcccagc tgcctgccaa gcagcgcaag atagtggtga ttgccccagg acggatcaat gccaggacca gagctgccct ggatgctgca gccaaggaaa tgaccaccaa ggacaaaact aaacagcagc agaaagatgc cctcattctc ttcttcaaca gaacagctga agctaaaatc ccatctgtca ttgaatatat cttggaccta ctggaaagtg gaagagagaa gtttttagta tttgcacacc ataaggtggt cctggacgca attacgcaag agcttgagag aaagcacgtg cagcacatcc gcatcgatgg ctccacctca tcagctgagc gggaggacct gtgccagcag ttccaactgt cggagaggca tgctgtggcc gtgctgtcca tcaccgctgc caatatgggc ctcaccttct cctcggctga cctggtggtg tttgctgagc tgttttggaa cccaggggtg ctgatccagg ctgaggaccg cgtgcaccgc attggacaga ccagctccgt gggcattcac tacctcgtgg caaagggcac agctgatgac tacctttggc ccctgattca agagaagatt aaagttctgg cagaagccgg gctttctgag accaattttt cagaaatgac agaatccact gattacctct acaaggaccc aaagcagcag aagatctacg acctattcca gaagtccttt gagaaagaag gaagtgatat ggagctcctg gaagcagcag agtcctttga cccaggaagt gcttcaggaa catctggaag tagttcccag aacatgggag acaccctgga tgaaagctca ttgacagcca gtccacagaa gaaaaggaga tttgaatttt ttgataactg ggacagcttt acgtctcccc tgtaa
ISO Certification
Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.
Other Notes
Small volumes of SMARCAL1 cdna clone vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
NCBI/Uniprot data below describe general gene information for SMARCAL1. It may not necessarily be applicable to this product.
NCBI Accession #
BC043341
[Other Products]
UniProt Secondary Accession #
Q53R00; Q96AY1; Q9NXQ5; Q9UFH3; Q9UI93; A6NEH0[Other Products]
UniProt Related Accession #
Q9NZC9[Other Products]
Molecular Weight
105,938 Da
NCBI Official Full Name
Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1, mRNA
NCBI Official Synonym Full Names
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1
NCBI Official Symbol
SMARCAL1??[Similar Products]
NCBI Official Synonym Symbols
HARP; HHARP
??[Similar Products]
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??[Similar Products]
UniProt Synonym Gene Names
HARP; hHARP??[Similar Products]
UniProt Entry Name
SMAL1_HUMAN
NCBI Summary for SMARCAL1
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 Comments for SMARCAL1
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.
Protein type: EC 3.6.1.-; EC 3.6.4.-; Helicase
Chromosomal Location of Human Ortholog: 2q35
Cellular Component: DNA replication factor A complex; nucleoplasm; nucleus
Molecular Function: DNA-dependent ATPase activity; protein binding
Biological Process: DNA metabolic process; regulation of transcription from RNA polymerase II promoter; replication fork processing; response to DNA damage stimulus
Disease: Immunoosseous Dysplasia, Schimke Type
Research Articles on SMARCAL1
1. Mutations in human SMARCAL1 that result in loss in ATPase activity lead to increased replication stress and therefore possibly manifestation of Schimke immuno-osseous dysplasia.
Precautions
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Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.
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