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SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001127207 Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 2, mRNA. GenEZ ORF Cloning In-stock $809.00 $760.00 15
NM_014140 Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $809.00 $760.00 15
XM_005246631 PREDICTED: Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $899.00 20
XM_005246632 PREDICTED: Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand $899.00 20
XM_006712557 PREDICTED: Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant X3, mRNA. GenEZ ORF Cloning On-demand $899.00 20

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Gene Symbol SMARCAL1
Entrez Gene ID 50485
Full Name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
Synonyms HARP, HHARP
General protein information
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

2

2q35

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].
Disorder

MIM: 606622

Schimke immunoosseous dysplasia, 242900 (3)

mRNA Protein Product Sequence Price Select
NM_001127207, 187761313 NP_001120679, 187761314 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1 ORF Sequence $660.00
NM_014140, 187761312 NP_054859, 21071060 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1 ORF Sequence $660.00
XM_005246631, 578804405 XP_005246688, 530370505 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1 isoform X1 ORF Sequence $750.00
XM_005246632, 530370506 XP_005246689, 530370507 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1 isoform X2 ORF Sequence $750.00
XM_006712557, 578804406 XP_006712620, 578804407 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1 isoform X3 ORF Sequence $750.00
Homo sapiens (human)SMARCAL1NP_001120679.1
Pan troglodytes (chimpanzee)SMARCAL1XP_001153124.1
Macaca mulatta (Rhesus monkey)SMARCAL1XP_001086594.1
Canis lupus familiaris (dog)SMARCAL1XP_005640678.1
Bos taurus (cattle)SMARCAL1NP_788839.1
Mus musculus (house mouse)Smarcal1NP_061287.2
Rattus norvegicus (Norway rat)Smarcal1NP_001101692.1
Gallus gallus (chicken)SMARCAL1XP_422070.3
Danio rerio (zebrafish)smarcal1NP_001120938.1
Drosophila melanogaster (fruit fly)Marcal1NP_608883.1
Caenorhabditis elegansC16A3.1NP_741192.1
Arabidopsis thaliana (thale cress)CHR18NP_175265.3
Xenopus (Silurana) tropicalis (western clawed frog)smarcal1NP_001072923.1
Process
IDNameEvidence
GO:0000733DNA strand renaturationIDA
GO:0000733DNA strand renaturationIMP
GO:0006200ATP catabolic processIEA
GO:0006200ATP catabolic processIMP
GO:0006259DNA metabolic processIMP
GO:0006357regulation of transcription from RNA polymerase II promoterIMP
GO:0006974cellular response to DNA damage stimulusIMP
GO:0016568chromatin modificationIEA
GO:0031297replication fork processingIMP
Component
IDNameEvidence
GO:0005634nucleusIDA
GO:0005662DNA replication factor A complexIDA
GO:0035861site of double-strand breakIDA
Function
IDNameEvidence
GO:0003677DNA bindingIEA
GO:0004386helicase activityIEA
GO:0005515protein bindingIPI
GO:0005524ATP bindingIEA
GO:0008094DNA-dependent ATPase activityIMP
GO:0036310annealing helicase activityIDA
GO:0036310annealing helicase activityIMP
GeneCards SMARCAL1
UniProt Q9NZC9
Vega OTTHUMG00000133055
MIM 606622
Ensembl ENSG00000138375
HGNC 11102
HPRD 05969

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the SMARCAL1 gene?

The SMARCAL1 gene provides instructions for producing a protein whose specific function is unknown. The SMARCAL1 protein can attach (bind) to chromatin, which is the complex of DNA and protein that packages DNA into chromosomes. Based on the function of similar proteins, the SMARCAL1 protein is thought to influence the activity (expression) of other genes through a process known as chromatin remodeling. The structure of chromatin can be changed (remodeled) to alter how tightly DNA is packaged. Chromatin remodeling is one way gene expression is regulated during development. When DNA is tightly packed, gene expression is lower than when DNA is loosely packed.

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