SMARCE1 - SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 Gene

Homo sapiens

Also known as CSS5; BAF57

Gene ID: 6605 | Gene type: protein coding

About SMARCE1

Cytogenetic location: 17q21.2 Genomic coordinates (GRCh38): 17:40,624,962-40,647,818 (from NCBI)

This gene has 51 transcripts (splice variants), 248 orthologues, 20 paralogues and is associated with 63 phenotypes. Ubiquitous expression in endometrium (RPKM 61.3), ovary (RPKM 41.8) and 25 other tissues.

Summary

The protein encoded by this gene is part of the large ATP-dependent chromatin remodeling complex SWI/SNF, which is required for transcriptional activation of genes normally repressed by chromatin. The encoded protein, either alone or when in the SWI/SNF complex, can bind to 4-way junction DNA, which is thought to mimic the topology of DNA as it enters or exits the nucleosome. The protein contains a DNA-binding HMG domain, but disruption of this domain does not abolish the DNA-binding or nucleosome-displacement activities of the SWI/SNF complex. Unlike most of the SWI/SNF complex proteins, this protein has no yeast counterpart. [provided by RefSeq, Jul 2008]

SMARCE1 Products(1)

mRNA	Protein	Name
NM_003079.5	NP_003070.3	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1

SMARCE1 Protein Structure

HMG_box

0
100
200
300
411 a.a.

Protein Preferred Names

Protein Names

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1

BRG1-associated factor 57

Related Diseases

Diseases

Alias

Meningioma, Familial

Meningioma	Familial Meningioma
Meningioma, Familial, Susceptibility To	Meningeal Neoplasm
Meningeal Neoplasms	Meningiomas
Meningioma, Nf2-Related, Somatic	Meningioma, Sis-Related
Meningothelial Cell Tumor	Neoplasm Of The Meninges
Primary Meningeal Tumor	Familial Multiple Meningioma
MNGMA	Meningioma, Benign, No Icd-O Subtype
Intracranial Meningioma	Meningothelial Cell Neoplasm
Supratentorial Meningioma	Primary Neoplasm Of Spinal Meninges
Benign Intracranial Meningioma	Benign Meningioma
Meningeal Tumours	Meningeal Sarcoma Of Unspecified Site
Meningothelial Sarcoma Of Unspecified Site

Coffin-Siris Syndrome 5

CSS5	Coffin-Siris Syndrome, Type 5

Facial Cleft

Craniofacial Cleft

Craniofacial Clefts

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

Bap1 Tumor Predisposition Syndrome

Bap1-Related Tumor Predisposition Syndrome	Common Syndrome
Bap1 Cancer Syndrome	Bap1-Tpds
Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms	Tumor Predisposition Syndrome
Tumor Susceptibility Linked To Germline Bap1 Mutations	Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms
Tumor Predisposition

Inherited Cancer-Predisposing Syndrome

Hereditary Cancer-Predisposing Syndrome

Clear Cell Meningioma

Spinal Meningioma

Spinal Cord Meningioma	Meningioma, Spine
Meningioma	Meningioma, Benign, No Icd-O Subtype

Spinal Canal And Spinal Cord Meningioma

Spinal Cancer

Spinal Cord Neoplasm	Spinal Cord Neoplasms
Spinal Neoplasms	Intraspinal Tumor
Malignant Tumor Of The Spinal Cord	Spinal Cord Cancer
Spinal Neoplasm	Tumor Of The Spinal Cord
Tumors Spinal Cord	Intraspinal Neoplasm
Spinal Cord--Cancer

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

Parasagittal Meningioma

Clark-Baraitser Syndrome

CLABARS	Baraitser Syndrome
Autosomal Dominant Intellectual Disability 49	Mental Retardation, Autosomal Dominant 49, Formerly
Mrd49, Formerly	Intellectual Developmental Disorder, Autosomal Dominant 49
Autosomal Dominant Mental Retardation 49	Intellectual Disability, Tall Stature, Obesity, Macrocephaly And Typical Facial Features
Mrd49	Progeria Short Stature Pigmented Nevi

Angiomatous Meningioma

Hypertrichosis

Rhabdoid Meningioma

Papillary Meningioma

Meningioma, Rhabdoid

Childhood Meningioma

Pediatric Meningioma

Neurilemmomatosis

Schwannomatosis	Neurofibromatosis Type 3
Nf3	Neurilemmomatosis Congenital Cutaneous
Neurinomatosis	Congenital Cutaneous Neurilemmomatosis
Multiple Neurilemmomas	Multiple Schwannomas
Neurilemmomatosis, Congenital Cutaneous	Schwannomatosis 1
Neurofibromatosis 3	Mixed Central And Peripheral Neurofibromatosis
Nf3 - [Neurofibromatosis Type 3]

Cerebral Convexity Meningioma

Cerebral Hemispheric Convexity Meningioma

Cerebral Falx Meningioma

Falcine Meningioma

Falx Cerebri Meningioma

Skull Base Meningioma

Meningioma Of The Skull Base

Skull Base Cancer

Tumors Of Skull Base

Skull Base Neoplasms

Meningothelial Meningioma

Meningotheliomatous Meningioma

Anterior Cranial Fossa Meningioma

Meningioma Of The Anterior Fossa

Secretory Meningioma

Meningioma

Coffin-Siris Syndrome 6

CSS6	Coffin-Siris Syndrome, Type 6

Olfactory Groove Meningioma

Meningioma Of The Olfactory Groove

Solitary Fibrous Tumor/Hemangiopericytoma

Sft/Hpc

Brain Meningioma

Intracranial Meningioma

Transitional Meningioma

Intraventricular Meningioma

Cerebellopontine Angle Meningioma

Meningioma Of The Cerebellar Pontine Angle

Microcystic Meningioma

Intracranial Meningioma

Meningioma

Sphenoorbital Meningioma

Cavernous Sinus Meningioma

Meningioma Of The Cavernous Sinus

Cerebral Meningioma

Meningioma Of Cerebrum

Fibrous Meningioma

Fibroblastic Meningioma

Adenoid Cystic Carcinoma

Adenocystic Carcinoma	Cribriform Carcinoma
Cylindroma	Carcinoma Adenoid Cystic
Carcinoma, Adenoid Cystic	Adenoid Cystic Carcinoma Of Salivary Gland
Eccrine Dermal Cylindroma	Carcinoma, Cribriform

Rhabdoid Cancer

Rhabdoid Tumor	Malignant Rhabdoid Tumor
Malignant Rhabdoid Tumour	Rhabdoid Sarcoma
Rhabdoid Tumor Predisposition Syndrome 1	Rhabdoid Tumor Predisposition Syndrome 2
Atypical Teratoid Rhabdoid Tumor	Brain Tumor, Posterior Fossa, Of Infancy, Familial
Atypical Teratoid/Rhabdoid Tumor

Familial Isolated Trichomegaly

Long Eyelashes

Tcmgly

Borjeson-Forssman-Lehmann Syndrome

BFLS	Borj
Borjeson Syndrome	Mrxsbfl
Intellectual Deficiency-Epilepsy-Endocrine Disorders Syndrome	Intellectual Disability-Epilepsy-Endocrine Disorders Syndrome
Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type	Mental Retardation, Epilepsy, And Endocrine Disorders
Mental Retardation, Epilepsy, And Endocrine Disorder	Syndromic X-Linked Mental Retardation Borjeson-Forssman-Lehmann Type
Mental Deficiency, Epilepsy And Endocrine Disorders	Boerjeson-Forssman-Lehmann Syndrome
Borjeson-Forssman Syndrome	Mental Deficiency-Epilepsy- Endocrine Disorders

Atypical Teratoid Rhabdoid Tumor

Rhabdoid Tumor Predisposition Syndrome	Rtps
Atypical Teratoid/Rhabdoid Tumor	Rhabdoid Predisposition Syndrome
Familial Posterior Fossa Brain Tumor Of Infancy	Familial Rhabdoid Tumor
At/Rt	Atypical Teratoid Rhabdoid Tumour
Atypical Teratoid/Rhabdoid Tumour	Rhabdoid Tumor Of The Cns
Rhabdoid Tumour Of The Cns	Familial Posterior Fossa Brain Tumor Syndrome
Hereditary Swi/Snf Deficiency Syndrome	Atrt

Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome

Door Syndrome	Doors Syndrome
Digitorenocerebral Syndrome	Autosomal Recessive Deafness-Onychodystrophy Syndrome
Deafness-Onychoosteodystrophy-Intellectual Disability Syndrome	DOORS
Drc Syndrome	Eronen Syndrome
Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome	Brachydactyly Due To Absence Of Distal Phalanges
Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome	Deafness, Onychodystrophy, Osteodystrophy, And Mental Retardation Syndrome
Deafness-Oncychodystrophy-Osteodystrophy-Intellectual Disability Syndrome	Autosomal Recessive Hearing Loss-Onychodystrophy Syndrome
Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome	Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome
Hearing Loss-Onychoosteodystrophy-Intellectual Disability Syndrome	Deafness, Onychodystrophy, Osteodystrophy, Intellectual Disability, And Seizures Syndrome
Deafness, Congenital Onychodystrophy, Recessive Form	Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation Syndrome

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-RS13415	SMARCE1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SMARCE1	VGNC	VGNC:34996
Rattus norvegicus	SMARCE1	RGD	RGD:1304726
Felis catus	SMARCE1	VGNC	VGNC:99456
Macaca mulatta	SMARCE1	VGNC	VGNC:97830
Mus musculus	SMARCE1	MGD	MGI:1927347
Canis familiaris	SMARCE1	VGNC	VGNC:46540