SMARCA1 - SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 Gene

Homo sapiens

Also known as SWI; ISWI; SWI2; SNF2L; SNF2L1; SNF2LB; SNF2LT; hSNF2L; NURF140

Gene ID: 6594 | Gene type: protein coding

About SMARCA1

Cytogenetic location: Xq25-q26.1 Genomic coordinates (GRCh38): X:129,446,506-129,523,490 (from NCBI)

This gene has 5 transcripts (splice variants), 210 orthologues and 30 paralogues. Broad expression in adrenal (RPKM 46.7), testis (RPKM 43.0) and 22 other tissues.

Summary

This gene encodes a member of the SWI/SNF family of proteins. The encoded protein is an ATPase which is expressed in diverse tissues and contributes to the chromatin remodeling complex that is involved in transcription. The protein may also play a role in DNA damage, growth inhibition and Apoptosis of Cancer cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

SMARCA1 Products(7)

mRNA	Protein	Name
NM_001282874.2	NP_001269803.1	probable global transcription activator SNF2L1 isoform d
NM_001282875.2	NP_001269804.1	probable global transcription activator SNF2L1 isoform c
NM_001378261.1	NP_001365190.1	probable global transcription activator SNF2L1 isoform e
NM_001378262.1	NP_001365191.1	probable global transcription activator SNF2L1 isoform f
NM_001378263.1	NP_001365192.1	probable global transcription activator SNF2L1 isoform f
NM_001378264.1	NP_001365193.1	probable global transcription activator SNF2L1 isoform g
NM_003069.5	NP_003060.2	probable global transcription activator SNF2L1 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables ATP-dependent DNA/DNA annealing activity	IDA IDA: Inferred from direct assay	22705370	GOA
contributes to ATP-dependent activity, acting on DNA	IDA IDA: Inferred from direct assay	14609955	GOA
contributes to ATP-dependent chromatin remodeler activity	IDA IDA: Inferred from direct assay	15640247	GOA
enables ATP-dependent chromatin remodeler activity	IDA IDA: Inferred from direct assay	15640247	GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	27141965	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	14609955	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in brain development	IMP IMP: Inferred from mutant phenotype	14609955	GOA
involved in chromatin remodeling	IDA IDA: Inferred from direct assay	14609955	GOA
involved in positive regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	14609955	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	14609955	GOA
involved in regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	14609955	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of ATPase complex	IDA IDA: Inferred from direct assay	14609955	GOA
part of CERF complex	IDA IDA: Inferred from direct assay	15640247	GOA
part of CERF complex	IPI IPI: Inferred from physical interaction	15640247	GOA
part of NURF complex	IDA IDA: Inferred from direct assay	20850016	GOA
part of NURF complex	IPI IPI: Inferred from physical interaction	14609955	GOA
located in nucleus	IDA IDA: Inferred from direct assay	14609955	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SMARCA1 Protein Structure

DBINO

SNF2_N

Helicase_C

HAND

SLIDE

0
200
400
600
800
1000
1054 a.a.

Protein Preferred Names

Protein Names

probable global transcription activator SNF2L1

ATP-dependent helicase SMARCA1

SMARCA1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	SMARCA1	P28370	BPTF	Homo sapiens	Q12830	Anti Tag CoIP	14609955
Intra	SMARCA1	P28370	BPTF	Homo sapiens	Q12830	Anti Tag CoIP	15640247
Intra	SMARCA1	P28370	BPTF	Homo sapiens	Q12830	Anti Tag CoIP	35271311
Intra	SMARCA1	P28370	BPTF	Homo sapiens	Q12830	Anti Bait CoIP	14609955
Intra	SMARCA1	P28370	BPTF	Homo sapiens	Q12830	GMS	14609955
Intra	SMARCA1	P28370	BAZ1B	Homo sapiens	Q9UIG0	Anti Tag CoIP	35271311

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Rett Syndrome

Atypical Rett Syndrome	RTT
Rett Disorder	Rts
Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use	Rett Syndrome, Preserved Speech Variant
Rett Syndrome, Atypical	Rett'S Disorder
Rett Syndrome Variant	Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome
Cerebroatrophic Hyperammonemia	Rett Like Syndrome
Rett'S Syndrome	Atypical Rtt
Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use	Rett Syndrome Preserved Speech Variant
Rett Syndrome Zappella Variant	Rett Syndrome, Zappella Variant

Cockayne Syndrome

Cockayne'S Syndrome	Dwarfism-Retinal Atrophy-Deafness Syndrome
Neill-Dingwall Syndrome	Progeria-Like Syndrome
Progeroid Nanism	Cs

Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

Atr-X Syndrome	Atr, Nondeletion Type
Alpha-Thalassemia X-Linked Intellectual Disability Syndrome	Atrx Syndrome
Alpha-Thalassemia/Mental Retardation Syndrome Nondeletion Type	Alpha Thalassemia Intellectual Disability Syndrome, Nondeletion Type, X-Linked
X-Linked Alpha-Thalassemia/Intellectual Disability Syndrome	Xlmr Hypotonic Face Syndrome
Alpha Thalassemia X-Linked Intellectual Disability Syndrome	Alpha Thalassemia X-Linked Mental Retardation Syndrome
Alpha Thalassemia/Mental Retardation, X-Linked	Alpha-Thalassemia X-Linked Mental Retardation Syndrome
Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type	X-Linked Alpha-Thalassemia/Mental Retardation Syndrome
Xlmr-Hypotonic Face Syndrome	Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type, X-Linked

Schimke Immunoosseous Dysplasia

Schimke Immuno-Osseous Dysplasia	SIOD
Immunoosseous Dysplasia, Schimke Type	Schimke Syndrome
Immunoosseous Dysplasia Schimke Type	Spondyloepiphyseal Dysplasia - Nephrotic Syndrome
Spondyloepiphyseal Dysplasia Nephrotic Syndrome	Spondyloepiphyseal Dysplasia-Nephrotic Syndrome

Cockayne Syndrome B

Cockayne Syndrome Type 2	Cockayne Syndrome, Type B
Cockayne Syndrome Type Ii	CSB
Cockayne Syndrome 2	Cockayne Syndrome Type B
Ckn2	Cockayne Syndrome, Type Ii

Autosomal Dominant Intellectual Developmental Disorder

Autosomal Dominant Mental Retardation	Autosomal Dominant Non-Syndromic Mental Retardation
Autosomal Dominant Non-Syndromic Intellectual Disability	Mental Retardation, Autosomal Dominant

Cartilage-Hair Hypoplasia

Metaphyseal Chondrodysplasia, Mckusick Type	CHH
Mckusick Type Metaphyseal Chondrodysplasia	Metaphyseal Dysplasia Without Hypotrichosis
Cartilage Hair Hypoplasia Like Syndrome	Metaphyseal Chondrodysplasia Mckusick Type
Chhv	Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only
Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia Without Hypotrichosis Or Immunodeficiency	Cartilage-Hair Syndrome
Mckusick'S Metaphyseal Chondrodysplasia Syndrome	Metaphyseal Chondrodysplasia, Recessive Type
Autosomal Recessive Metaphyseal Chondrodysplasia

Uv-Sensitive Syndrome

Uvss	Uv Sensitive Syndrome
Ultraviolet Sensitive Syndrome

Charge Syndrome

Charge Association	Hall-Hittner Syndrome
Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies	Hhs
Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies	Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome
CHARGES

Primary Hyperoxaluria

Hyperoxaluria	Hyperoxaluria, Primary
Oxalosis	Primary Oxalosis
Congenital Oxaluria	D-Glycerate Dehydrogenase Deficiency
Glyceric Aciduria	Glycolic Aciduria
Hepatic Agt Deficiency	Oxaluria, Primary
Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency	Primary Oxaluria
Hyperoxaluria Primary	Primary Hyperoxaluria Type 2
Primary Hyperoxaluria, Type I

Alpha-Thalassemia

Alpha Thalassemia	Alpha Thalassaemia
Alpha Plus Thalassemia	Thalassemia, Alpha-
Thalassemias, Alpha-	A-Thalassemia
Α-Thalassemia	A-THAL
Thalassemia	Alpha Thalassaemia Syndrome

Williams-Beuren Syndrome

Williams Syndrome	WBS
Wms	Deletion 7q11.23
Monosomy 7q11.23	Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb
Fanconi Schlesinger Syndrome	Beuren Syndrome
Elfin Facies Syndrome	Elfin Facies With Hypercalcemia
Hypercalcemia-Supravalvar Aortic Stenosis	Ws

Coffin-Siris Syndrome 1

Coffin-Siris Syndrome	Fifth Digit Syndrome
Css	CSS1
Mrd12	Mental Retardation, Autosomal Dominant 12
Hhid	Dwarfism-Onychodysplasia
Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features	Autosomal Dominant Mental Retardation 12
Short Stature-Onychodysplasia.	Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx
Mental Retardation With Hypoplastic Fifth Fingernails And Toenails	Short Stature-Onychodysplasia
Coffin-Siris Syndrome, Type 1	Mental Retardation, Autosomal Dominant, Type 12

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13403	SMARCA1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SMARCA1	RGD	RGD:1561046
Felis catus	SMARCA1	VGNC	VGNC:65462
Canis familiaris	SMARCA1	VGNC	VGNC:46528
Mus musculus	SMARCA1	MGD	MGI:1935127
Bos taurus	SMARCA1	VGNC	VGNC:34985
Macaca mulatta	SMARCA1	VGNC	VGNC:77646

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