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

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6594

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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

SMARCA1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P84235	SMARCA1 Antibody (YA3932)	WB, IHC-P, FC, ELISA	Human, Mouse
HY-P84235A	SMARCA1 Antibody (YA3932)(PBS only)	WB, IHC-P, FC, ELISA	Human, Mouse

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

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 Set	/	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
Others	SMARCA1	NCBI