SMARCA5 - SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 Gene

Also Known as ISWI; SNF2H; hISWI; hSNF2H; WCRF135

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8467

About SMARCA5

Cytogenetic location: 4q31.21 Genomic coordinates (GRCh38): 4:143,513,702-143,557,486 (from NCBI)

This gene has 3 transcripts (splice variants), 164 orthologues, 30 paralogues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 25.1), lung (RPKM 17.3) and 25 other tissues.

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 protein encoded by this gene is a component of the chromatin remodeling and spacing factor RSF, a facilitator of the transcription of class II genes by RNA polymerase II. The encoded protein is similar in sequence to the Drosophila ISWI chromatin remodeling protein. [provided by RefSeq, Jul 2008]

SMARCA5 Products (1)

mRNA	Protein	Name
NM_003601.4	NP_003592.3	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ATP binding	IDA IDA: Inferred from direct assay	12972596	GOA
enables ATP hydrolysis activity	IDA IDA: Inferred from direct assay	12972596	GOA
enables ATP-dependent chromatin remodeler activity	IDA IDA: Inferred from direct assay	23911928	GOA
enables ATP-dependent chromatin remodeler activity	IMP IMP: Inferred from mutant phenotype	15543136	GOA
enables DNA binding	IDA IDA: Inferred from direct assay	12972596	GOA
contributes to histone binding	IDA IDA: Inferred from direct assay	12972596	GOA
enables histone octamer slider activity	IDA IDA: Inferred from direct assay	9836642	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10655480	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in DNA repair	IDA IDA: Inferred from direct assay	23911928	GOA
involved in DNA-templated transcription initiation	IDA IDA: Inferred from direct assay	9836642	GOA
involved in antiviral innate immune response	IDA IDA: Inferred from direct assay	38114488	GOA
involved in chromatin organization	IDA IDA: Inferred from direct assay	11691835	GOA
involved in chromatin remodeling	IDA IDA: Inferred from direct assay	9836642	GOA
involved in chromatin remodeling	IMP IMP: Inferred from mutant phenotype	15543136	GOA
involved in negative regulation of mitotic chromosome condensation	IDA IDA: Inferred from direct assay	15543136	GOA
involved in negative regulation of mitotic chromosome condensation	IMP IMP: Inferred from mutant phenotype	15543136	GOA
involved in nucleosome assembly	EXP EXP: Inferred from Experiment	11691835	GOA
involved in nucleosome assembly	IDA IDA: Inferred from direct assay	12972596	GOA
involved in positive regulation of DNA replication	IMP IMP: Inferred from mutant phenotype	12434153	GOA
involved in positive regulation of transcription by RNA polymerase III	IDA IDA: Inferred from direct assay	16603771	GOA
involved in regulation of DNA replication	IMP IMP: Inferred from mutant phenotype	12434153	GOA
involved in regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	12972596	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of ACF complex	IPI IPI: Inferred from physical interaction	10655480	GOA
part of B-WICH complex	IDA IDA: Inferred from direct assay	16603771	GOA
part of NURF complex	IDA IDA: Inferred from direct assay	20850016	GOA
part of RSF complex	IPI IPI: Inferred from physical interaction	9836642	GOA
part of WICH complex	IDA IDA: Inferred from direct assay	16514417	GOA
located in condensed chromosome	IDA IDA: Inferred from direct assay	12972596	GOA
colocalizes with nuclear replication fork	IDA IDA: Inferred from direct assay	15543136	GOA
located in nucleus	IDA IDA: Inferred from direct assay	10655480	GOA
located in pericentric heterochromatin	EXP EXP: Inferred from Experiment	12434153	GOA
is active in site of double-strand break	IDA IDA: Inferred from direct assay	23911928	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

SMARCA5 Protein Structure

DBINO

SNF2_N

Helicase_C

HAND

SLIDE

0
200
400
600
800
1000
1052 a.a.

Protein Preferred Names	Protein Names
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin A5

SMARCA5 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SMARCA5	O60264	BPTF	Homo sapiens	Q12830	Anti Tag CoIP	35271311
Intra	SMARCA5	O60264	RSF1	Homo sapiens	Q96T23	Anti Bait CoIP	12972596
Intra	SMARCA5	O60264	RSF1	Homo sapiens	Q96T23	Anti Tag CoIP	35271311
Intra	SMARCA5	O60264	RSF1	Homo sapiens	Q96T23	IF	12972596
Intra	SMARCA5	O60264	BAZ1B	Homo sapiens	Q9UIG0	Anti Bait CoIP	11980720
Intra	SMARCA5	O60264	BAZ1B	Homo sapiens	Q9UIG0	Anti Bait CoIP	16514417
Intra	SMARCA5	O60264	BAZ1B	Homo sapiens	Q9UIG0	Anti Tag CoIP	35271311
Intra	SMARCA5	O60264	BAZ1A	Homo sapiens	Q9NRL2	Anti Tag CoIP	35271311
Intra	SMARCA5	O60264	BAZ1A	Homo sapiens	Q9NRL2	Anti Bait CoIP	10655480
Intra	SMARCA5	O60264	BAZ1A	Homo sapiens	Q9NRL2	Affinity Chrom	10655480
Intra	SMARCA5	O60264	BAZ1A	Homo sapiens	Q9NRL2	Anti Bait CoIP	11980720

Cross: Cross-species interaction Intra: Intraspecies interaction

SMARCA5 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82268	SMARCA5 Antibody (YA2013)	WB, ICC/IF	Human, Mouse, Rat
HY-P82268A	SMARCA5 Antibody (YA2013)(PBS only)	WB, ICC/IF	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Ewing Sarcoma	Neuroepithelioma Ewing'S Tumor Primitive Neuroectodermal Tumor Ewings Sarcoma Ewing'S Sarcoma Peripheral Neuroepithelioma ES Ewings Sarcoma-Primitive Neuroectodermal Tumor Localized Peripheral Primitive Neuroectodermal Tumor Peripheral Primitive Neuroectodermal Tumor Ewing Tumor Sarcoma, Ewing'S Ewing Family Of Tumors Extraosseous Ewing Tumor Askin Tumor Ewing'S Family Localized Tumor Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor Localized Ewing Sarcoma Localized Ewing'S Sarcoma Localized Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor Localized Ewing'S Tumor Pnet Of Thoracopulmonary Region Tumor Of The Ewing Family Skeletal Ewing Sarcoma Osseous Ewing Sarcoma Ppnet Peripheral Pnet Extraskeletal Ewing Sarcoma Eoe Extraosseous Ewing Sarcoma Extraskeletal Ewing Tumor Esft Ewing Sarcoma Family Of Tumors Pne Pnet Pnet Of The Chest Wall Sarcoma, Ewing Neuroectodermal Tumors, Primitive, Peripheral Neuroectodermal Tumor, Primitive Disorder Of Eye Askin'S Tumor Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor Neuroepithelioma, Peripheral
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
Cockayne Syndrome	Cockayne'S Syndrome Dwarfism-Retinal Atrophy-Deafness Syndrome Neill-Dingwall Syndrome Progeria-Like Syndrome Progeroid Nanism Cs
Ovarian Melanoma
Bone Epithelioid Hemangioma	Bone Hemangioma Hemangioma Of Bone Osseous Epithelioid Hemangioma Osseous Hemangioma
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
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
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome	Icf Syndrome Immunodeficiency Syndrome, Variable Ciid Centromeric Instability, Immunodeficiency Syndrome Immune Deficiency, Variable, With Centromeric Instability Of Chromosomes 1, 9, And 16 Icf
Alpha-Thalassemia	Alpha Thalassemia Alpha Thalassaemia Alpha Plus Thalassemia Thalassemia, Alpha- Thalassemias, Alpha- A-Thalassemia Α-Thalassemia A-THAL Thalassemia Alpha Thalassaemia Syndrome
Cornelia De Lange Syndrome	De Lange Syndrome Brachmann De Lange Syndrome Brachmann-De Lange Syndrome Cdls Bdls Typus Degenerativus Amstelodamensis

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13406	SMARCA5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21260	Smarca5 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27779	Smarca5 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	SMARCA5	VGNC	VGNC:77649
Rattus norvegicus	SMARCA5	RGD	RGD:1308832
Bos taurus	SMARCA5	VGNC	VGNC:34988
Mus musculus	SMARCA5	MGD	MGI:1935129
Canis familiaris	SMARCA5	VGNC	VGNC:46531
Felis catus	SMARCA5	VGNC	VGNC:65465
Others	SMARCA5	NCBI