SMARCA1

Probable global transcription activator SNF2L1 is a protein that in humans is encoded by the SMARCA1 gene.^[5][6][7]

AliasesSMARCA1, ISWI, NURF140, SNF2L, SNF2L1, SNF2LB, SNF2LT, SWI, SWI2, hSNF2L, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1

External IDsOMIM: 300012; MGI: 1935127; HomoloGene: 55711; GeneCards: SMARCA1; OMA:SMARCA1 - orthologs

Chr.X chromosome (human)^[1]

End129,523,500 bp^[1]

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SMARCA1
Identifiers
Aliases	SMARCA1, ISWI, NURF140, SNF2L, SNF2L1, SNF2LB, SNF2LT, SWI, SWI2, hSNF2L, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1
External IDs	OMIM: 300012; MGI: 1935127; HomoloGene: 55711; GeneCards: SMARCA1; OMA:SMARCA1 - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xq25-q26.1 Start 129,446,501 bp[1] End 129,523,500 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X|X A4 Start 46,898,245 bp[2] End 46,981,851 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Epithelium of choroid plexus tibia endothelial cell ventricular zone right adrenal cortex left adrenal cortex parietal pleura seminal vesicula stromal cell of endometrium cartilage tissue Top expressed in Gonadal ridge vas deferens fossa efferent ductule internal carotid artery atrium trigeminal ganglion ureter external carotid artery ovary More reference expression data BioGPS More reference expression data
Gene ontology Molecular function ATP-dependent DNA/DNA annealing activity DNA binding nucleotide binding ATP-dependent activity, acting on DNA helicase activity hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides protein binding nucleic acid binding nucleosome binding hydrolase activity ATP binding transcription factor binding ATPase activity DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component CERF complex nucleus nucleoplasm intracellular membrane-bounded organelle NURF complex Biological process chromatin remodeling regulation of transcription, DNA-templated transcription, DNA-templated positive regulation of transcription, DNA-templated brain development neuron differentiation chromatin organization regulation of transcription by RNA polymerase II positive regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6594 93761 Ensembl ENSG00000102038 ENSMUSG00000031099 UniProt P28370 Q6PGB8 RefSeq (mRNA) NM_001282874 NM_001282875 NM_003069 NM_139035 NM_001378261 NM_001378262 NM_001378263 NM_001378264 NM_001290708 NM_053123 NM_001358618 NM_001358619 RefSeq (protein) NP_001269803 NP_001269804 NP_003060 NP_001365190 NP_001365191 NP_001365192 NP_001365193 NP_001277637 NP_444353 NP_001345547 NP_001345548 Location (UCSC) Chr X: 129.45 – 129.52 Mb Chr X: 46.9 – 46.98 Mb PubMed search [3] [4]
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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. Two transcript variants encoding different isoforms have been found for this gene.^[7]