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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SMARCA1 Gene

protein-coding GIFtS: 61
GCID: GC0XM128580

SWI/SNF related, matrix associated, actin dependent regulator...

(Previous symbols: SNF2L1, SNF2L)

Explore 8 diseases affiliated with
SMARCA1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 1¹ ²		SNF2LT²
SNF2L1¹ ² ³ ⁵		SWI2²
SNF2L¹ ² ³		Global Transcription Activator Homologous Sequence²
ISWI¹ ²		Probable Global Transcription Activator SNF2L1²
NURF140¹ ²		SNF2-Like 1²
SNF2LB¹ ²		Sucrose Nonfermenting 2-Like Protein 1²
SWI¹ ²		SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin A1²
Nucleosome-Remodeling Factor Subunit SNF2L² ³		EC 3.6.4.-³
ATP-Dependent Helicase SMARCA1² ³		EC 3.6.1⁸
SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin Subfamily A Member 1² ³

External Ids:	HGNC: 11097¹	Entrez Gene: 6594²	Ensembl: ENSG00000102038⁷	OMIM: 300012⁵	UniProtKB: P28370³

Export aliases for SMARCA1 gene to outside databases

Previous GC identifers: GC0XM123226 GC0XM125426 GC0XM126525 GC0XM127286 GC0XM128306 GC0XM128408 GC0XM117987

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SMARCA1:

This gene encodes 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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. (provided

by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: SMCA1_HUMAN, P28370

Function: Energy-transducing component of NURF (nucleosome-remodeling factor) and CERF (CECR2-containing-remodeling

factor) complexes. Both complexes facilitate the perturbation of chromatin structure in an ATP-dependent manner.

Potentiates neurite outgrowth. May be involved in brain development by regulating En-1 and En-2 expression. May be

involved in the development of luteal cells

Gene Wiki entry for SMARCA1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000023.10 NC_018934.1 NT_011786.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SMARCA1 gene promoter:
AP-2alpha isoform 3 AP-2alpha isoform 4 AP-2alpha isoform 2 AP-2alpha AP-2alphaA
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SMARCA1 promoter sequence

Search SABiosciences Chromatin IP Primers for SMARCA1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SMARCA1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq25 Ensembl cytogenetic band: Xq25 HGNC cytogenetic band: Xq25

SMARCA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SMARCA1 gene location

GeneLoc information about chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XM128580: view genomic region (about GC identifiers)

Start:	128,580,478 bp from pter	End:	128,657,477 bp from pter
Size:	77,000 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SMCA1_HUMAN, P28370 (See protein sequence)

Recommended Name: Probable global transcription activator SNF2L1

Size: 1054 amino acids; 122605 Da

Subunit: Part of the nucleosome-remodeling factor (NURF) complex which consists of SMARCA1; BPTF; RBBP4 and RBBP7. Part

of the CECR2-containing-remodeling factor (CERF) complex which contains CECR2 and SMARCA1. Interacts with PRLR

Subcellular location: Nucleus

Sequence caution: Sequence=AAA80560.1; Type=Erroneous initiation;

Secondary accessions: Q5JV41 Q5JV42

Alternative splicing: 2 isoforms: P28370-1 P28370-2 (Inactive as an ATPase and a chromatin remodeler due to the presence of exon 13, but retains its ability to incorporate into the NURF complex. Predominant in non neuronal tissues)

Explore the universe of human proteins at neXtProt for SMARCA1: NX_P28370

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P28370

4/26 DME Specific Peptides for SMARCA1 (P28370) (see all 26)

PPKRERK

TGTPLQN

HPYLFDG

DSDWNPQ

SMARCA1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_003060.2 NP_620604.2

ENSEMBL proteins:

ENSP00000360164 ENSP00000360163 ENSP00000404275 ENSP00000360162

Human Recombinant Protein Products:

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	Uscn Proteins for SMARCA1

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	14609955
GO:0016585	chromatin remodeling complex	--	--
GO:0016589	NURF complex	IDA	--
GO:0031010	ISWI-type complex	IDA	15640247

SMARCA1 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for SMARCA1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SMARCA1 for domains About GeneDecksing

5/9 InterPro domains/families (see all 9):

IPR015194 ATPase_nucl-remodel_HAND-dom

IPR020838 DBINO

IPR017884 SANT_dom

IPR000330 SNF2_N

IPR001005 SANT/Myb

Graphical View of Domain Structure for InterPro Entry P28370

ProtoNet protein and cluster: P28370

2 Blocks protein families:

IPB000330 SNF2 related domain

IPB002464 ATP-dependent helicase

UniProtKB/Swiss-Prot: SMCA1_HUMAN, P28370

Similarity: Belongs to the SNF2/RAD54 helicase family. ISWI subfamily

Similarity: Contains 1 helicase ATP-binding domain

Similarity: Contains 1 helicase C-terminal domain

Similarity: Contains 2 SANT domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: SMCA1_HUMAN, P28370

Function: Energy-transducing component of NURF (nucleosome-remodeling factor) and CERF (CECR2-containing-remodeling

factor) complexes. Both complexes facilitate the perturbation of chromatin structure in an ATP-dependent manner.

Potentiates neurite outgrowth. May be involved in brain development by regulating En-1 and En-2 expression. May be

involved in the development of luteal cells

Genatlas biochemistry entry for SMARCA1:

general transcriptional activator S cerevisiae SWI/SNF related protein,matrix associated,actin-dependent regulator of

chromatin,subfamily A,member 1,component of the chromatin remodeling complex,Drosophila ISWI (initiator of SWI)

homolog

Enzyme Numbers (IUBMB): EC 3.6.1² EC 3.6.4.-¹

miRNA Products:		OriGene 3'-UTR Clone (see all 2): SMARCA1 Browse MicroRNA Expression Plasmids
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		hsa-miR-607 hsa-miR-624* hsa-miR-520a-5p hsa-miR-888* hsa-miR-3692 hsa-miR-374c hsa-miR-489 hsa-miR-330-3p

		SwitchGear 3'UTR luciferase reporter plasmid: SMARCA1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Gene Editing
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DNA2.0 Custom Protein Engineering Service for SMARCA1

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMARCA1

Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	IEA	--
GO:0004386	helicase activity	IEA	--
GO:0005515	protein binding	IPI	14609955
GO:0005524	ATP binding	IEA	--
GO:0008094	contributes to DNA-dependent ATPase activity	IDA	14609955

SMARCA1 for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for SMARCA1:

Increased gamma-H2AX phosphory

Synthetic lethal with imatinib

Animal Models:
6 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Smarca1):

behavior/neurological	cardiovascular system	cellular	craniofacial	nervous system
normal

SMARCA1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

BRCA1 Pathway

BRCA1 Pathway

1.00

AMPK Enzyme Complex Pathway

AMPK Enzyme Complex Pathway

1.00

Chromatin Regulation / Acetylation

Chromatin Regulation / Acetylation

1.00

Development_Ligand-dependent activation of the ESR1/AP-1 pathway

Chromatin Remodeling

0.30

PEDF Induced Signaling

Glucocorticoid Receptor Signaling

0.27

Pathway sources
See GeneCards unified pathways
Show all pathways

4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for SMARCA1

	AMPK Enzyme Complex Pathway
	BRCA1 Pathway
	Glucocorticoid Receptor Signaling
	Chromatin Remodeling

1 Cell Signaling Technology (CST) Pathway for SMARCA1

Chromatin Regulation / Acetylation

SMARCA1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for SMARCA1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/58 Interacting proteins for SMARCA1 (P28370^{2, 3} ENSP00000360163⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 58)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HIST1H3A	P68431³, ENSP00000350275⁴	I2D: score=1 STRING: ENSP00000350275
HIST1H3B	P68431³	I2D: score=1
HIST1H3C	P68431³	I2D: score=1
HIST1H3D	P68431³	I2D: score=1
HIST1H3E	P68431³	I2D: score=1

About this table

Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000733	DNA strand renaturation	IDA	--
GO:0006338	chromatin remodeling	IDA	14609955
GO:0006351	transcription, DNA-dependent	IMP	14609955
GO:0007420	brain development	IMP	14609955
GO:0030182	neuron differentiation	ISS	--

SMARCA1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SMARCA1
Search CenterWatch for drugs/clinical trials and news about SMARCA1 / SMCA1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SMARCA1 gene (2 alternative transcripts):

NM_003069.3 NM_139035.2

Unigene Cluster for SMARCA1:

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1

Hs.152292 [show with all ESTs]

Unigene Representative Sequence: EU636009

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000371123(uc011mul.1) ENST00000371122(uc004eun.4 uc011muk.1)

ENST00000450039 ENST00000478420 ENST00000371121(uc004eup.4)

miRNA Products:		OriGene 3'-UTR Clone (see all 2): SMARCA1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SMARCA1
		8/21 QIAGEN miScript miRNA Assays for microRNAs that regulate SMARCA1 (see all 21):
		hsa-miR-607 hsa-miR-624* hsa-miR-520a-5p hsa-miR-888* hsa-miR-3692 hsa-miR-374c hsa-miR-489 hsa-miR-330-3p

		SwitchGear 3'UTR luciferase reporter plasmid: SMARCA1 3' UTR sequence

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Additional cDNA sequence:

AK026426.1 BC051825.1 BC117447.1 BC143954.1 BC143955.1 EU636009.1 M89907.1

11 DOTS entries:

DT.449412 DT.75139303 DT.100021913 DT.433556 DT.97810119 DT.100784073 DT.100021914 DT.121303858

DT.100034470 DT.95111863 DT.95269420

24/169 AceView cDNA sequences (see all 169):

AL120557 AI807410 BX647934 BQ008187 AW294211 AA634094 NM_139035 BE552263

CF541038 BM550740 BM803247 AW469379 CA941987 BF589637 AU143772 AW614102

AI249799 NM_003069 BM676432 BM662065 BF058246 BM687947 BC051825 AU124077

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for SMARCA1 About this scheme

ExUns:	1	^	2a	·	2b	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17	^	18a	·	18b	^	19	^	20	^	21	^	22a	·	22b	^	23	^
SP1:
SP2:																											-
SP3:
SP4:
SP5:

ExUns:	24a	·	24b	·	24c	^	25a	·	25b	·	25c	·	25d
SP1:
SP2:
SP3:
SP4:					-		-
SP5:					-

ECgene alternative splicing isoforms for SMARCA1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SMARCA1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCTTCATCAA

About this image

SMARCA1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Brain

Blood Brain Barrier

Postnatal Endothelial Cells

Blood Brain Barrier, Endothelium

Extraembryonic Mesoderm

Extraembryonic Capillary Plexus

Extraembryonic Angioblasts

Endothelium

Neural Tube

Metencephalon

Neural Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Mature follicles (In-vitro growth and ...)

See SMARCA1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SMARCA1

SOURCE GeneReport for Unigene cluster: Hs.152292

SABiosciences Expression via Pathway-Focused PCR Array including SMARCA1:

Polycomb & Trithorax Complexes in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SMARCA1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMARCA1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for SMARCA1 gene from 8/32 species (see all 32) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	SMARCA1¹	SWI/SNF related, matrix associated, actin dependent more	81.44(n) 91.24(a)		422358 XM_420329.3 XP_420329.2
lizard (Anolis carolinensis)	Reptilia	SMARCA1⁶	--	90(a)	1 ↔ 1	GL343202.1(3717133-3744384)
zebrafish (Danio rerio)	Actinopterygii	Dr.12723²	Transcribed sequence with strong similarity to protein more	78.37(n)		CK029415.1
fruit fly (Drosophila melanogaster)	Insecta	Iswi^{1 , 3}	chromatin assembly/disassembly DNA dependent adenosinetriphosphatase³ Imitation SWI¹	72(a)³ 65.36(n)¹ 74.59(a)¹		49B10³ 36390¹ NM_165930.1¹ NP_725203.1¹
worm (Caenorhabditis elegans)	Secernentea	isw-1¹	Protein ISW-1	63.07(n) 65.93(a)		175944 NM_066067.4 NP_498468.2
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	ISW2(YOR304W)⁴ ISW2¹	ATP-dependent DNA translocase involved in chromatin more⁴ Isw2p¹	57.34(n)¹ 53.03(a)¹		15(884514-887876)⁴ 854480^{1, 4} NP_014948.1^{1, 4}
thale cress (Arabidopsis thaliana)	eudicotyledons	CHR11⁶ CHR17⁶	chromatin remodeling factor17	48(a) 48(a)	many ↔ many many ↔ many	3(1940973-1946924) 5(6195917-6202166)
rice (Oryza sativa)	Liliopsida	-- -- (see all 3)	chromatin-remodeling complex ATPase chain, putativ... chromatin-remodeling complex ATPase chain, putativ... (see all 3)	47(a) 46(a) (see all 3)	many ↔ many many ↔ many (see all 3)	1(15074836-15082279) Un(586787-593818)

ENSEMBL Gene Tree for SMARCA1 (if available)
TreeFam Gene Tree for SMARCA1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for SMARCA1 gene

SMARCA5²

17 SIMAP similar genes for SMARCA1 using alignment to 4 protein entries: SMCA1_HUMAN (see all proteins):

SMARCA5 CHD8 HELLS CHD1L CHD9 CHD3

CHD5 DKFZp434K213 DKFZp434P202 CHD4 CHD7 SMARCA2

ATRX DKFZp434J1672 SMARCA4 CHD2 CHD1

SMARCA1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs185845379^1,2		--	128579997(+)	`AGTGGA/TTGTGA`	2	--	ds500¹		0	--	--	--	--
rs188743219^1,2		--	128580192(+)	`CTCTTG/TGTGTG`	2	--	ds500¹		0	--	--	--	--
rs181747146^1,2		--	128580646(+)	`TCAAAG/TAAACA`	2	--	ut3¹		0	--	--	--	--
rs15261^1,2	H	--	128580681(-)	`TTTGTG/ATTACT`	2	--	ut3¹ ese³		7		NA EA MN NS	770
rs186357381^1,2		--	128580923(+)	`TGAAAC/TGCACA`	2	--	ut3¹		0	--	--	--	--
rs191268475^1,2		--	128581360(+)	`TATAGA/CCCAAC`	2	--	int¹		0	--	--	--	--
rs138985955^1,2		--	128581413(+)	`TTTTTA/GTGAAA`	2	--	int¹		0	--	--	--	--
rs182743466^1,2		--	128581539(+)	`AGTATA/GTATTT`	2	--	int¹		0	--	--	--	--
rs185445642^1,2		--	128581561(+)	`TATGAC/TAGGTT`	2	--	int¹		0	--	--	--	--
rs191026590^1,2		--	128581654(+)	`CTGATA/GACAAA`	2	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for SMARCA1 (128580478 - 128657477 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for SMARCA1: --
Locus Specific Mutation Databases (LSDB): SMARCA1

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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SMARCA1 for disorders           About GeneDecksing

OMIM gene information: 300012    OMIM disorders: --

8 diseases for SMARCA1:    About MalaCards

smith-fineman-myers syndrome alpha thalassemia intellectual disability cockayne syndrome

rhabdoid cancer thalassemia malaria neuronitis

1 disease from the University of Copenhagen DISEASES database for SMARCA1:

Alpha thalassemia

Export disorders for SMARCA1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for SMARCA1 gene, integrated from 9 sources (see all 36):
(articles sorted by number of sources associating them with SMARCA1)

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Isolation of human NURF: a regulator of Engrailed gene expression. (PubMed id 14609955)^{1, 2, 3} Barak O....Shiekhattar R. (2003)
Cloning of human and bovine homologs of SNF2/SWI2: a global activator of transcription in yeast S. cerevisiae. (PubMed id 1408766)^{1, 2, 3} Okabe I....Nussbaum R.L. (1992)
The imitation switch protein SNF2L regulates steroidogenic acute regulatory protein expression during terminal differentiation of ovarian granulosa cells. (PubMed id 16740656)^{1, 2} Lazzaro M.A....Picketts D.J. (2006)
The DNA sequence of the human X chromosome. (PubMed id 15772651)^{1, 2} Ross M.T.... Bentley D.R. (2005)
CECR2, a protein involved in neurulation, forms a novel chromatin remodeling complex with SNF2L. (PubMed id 15640247)^{1, 2} Banting G.S.... Shiekhattar R. (2005)
A tissue-specific, naturally occurring human SNF2L variant inactivates chromatin remodeling. (PubMed id 15310751)^{1, 2} Barak O.... Shiekhattar R. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Identification of the phosphotyrosine proteome from thrombin activated platelets. (PubMed id 12112843)^{1, 2} Maguire P.B....Fitzgerald D.J. (2002)
Characterization of novel isoforms and evaluation of SNF2L/SMARCA1 as a candidate gene for X-linked mental retardation in 12 families linked to Xq25-26. (PubMed id 18302774)^{1, 9} Lazzaro M.A....Picketts D.J. (2008)
A PHD finger of NURF couples histone H3 lysine 4 trimethylation with chromatin remodelling. (PubMed id 16728976)^{1, 9} Wysocka J.... Allis C.D. (2006)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 6594	HGNC: 11097	AceView: SMARCA1	Ensembl:ENSG00000102038	euGenes: HUgn6594
ECgene: SMARCA1	H-InvDB: SMARCA1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for SMARCA1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for SMARCA1	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for SMARCA1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for SMARCA1 gene:
Search GeneIP for patents involving SMARCA1

GeneCards and IP:
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SMARCA1 Gene

SWI/SNF related, matrix associated, actin dependent regulator...

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SMARCA1 (Gene Symbol)
SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 1
SNF2L1
SNF2L
ISWI
NURF140
SNF2LB
SWI
Nucleosome-Remodeling Factor Subunit SNF2L
ATP-Dependent Helicase SMARCA1
SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin Subfamily A Member 1
SNF2LT
SWI2
Global Transcription Activator Homologous Sequence
Probable Global Transcription Activator SNF2L1
SNF2-Like 1
Sucrose Nonfermenting 2-Like Protein 1
SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin A1
EC 3.6.4.-
EC 3.6.1

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SMARCA1 Gene

SWI/SNF related, matrix associated, actin dependent regulator...

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