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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 Services Price Order
NM_001127207 Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 2, mRNA. ORF Sequence $830.85
Peptide Services
Antibody Services
Protein Services
NM_014140 Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA. ORF Sequence $830.85
Peptide Services
Antibody Services
Protein Services


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
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 Full Length $1083.25
ORF Sequence $830.85
NM_014140, 187761312 NP_054859, 21071060 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1 Full Length $1148.35
ORF Sequence $830.85
Homo sapiens (human)SMARCAL1NP_001120679.1
Pan troglodytes (chimpanzee)SMARCAL1XP_001153008.1
Macaca mulatta (Rhesus monkey)SMARCAL1XP_001086469.1
Canis lupus familiaris (dog)SMARCAL1XP_536062.2
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_498400.1
Arabidopsis thaliana (thale cress)CHR18NP_175265.3
GeneCards SMARCAL1
UniProt Q9NZC9
MIM 606622
Ensembl ENSG00000138375
HGNC 11102
HPRD 05969

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

General protein information

Interactant

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