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

Homo sapiens

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

Gene ID: 8467 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13406	SMARCA5 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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