UniProtKB - Q969G3 (SMCE1_HUMAN)
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1
SMARCE1
Functioni
Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity).
Required for the coactivation of estrogen responsive promoters by SWI/SNF complexes and the SRC/p160 family of histone acetyltransferases (HATs). Also specifically interacts with the CoREST corepressor resulting in repression of neuronal specific gene promoters in non-neuronal cells.
3 PublicationsBy similarityRegions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 66 – 134 | HMG boxPROSITE-ProRule annotationAdd BLAST | 69 |
GO - Molecular functioni
- chromatin binding Source: ProtInc
- DNA binding Source: UniProtKB-KW
- N-acetyltransferase activity Source: UniProtKB
- nuclear receptor binding Source: BHF-UCL
- protein N-terminus binding Source: UniProtKB
- RNA binding Source: Ensembl
- transcription coactivator activity Source: ProtInc
GO - Biological processi
- chromatin remodeling Source: BHF-UCL
- negative regulation of transcription, DNA-templated Source: UniProtKB
- neurogenesis Source: Ensembl
- nucleosome disassembly Source: BHF-UCL
- positive regulation of cell differentiation Source: ComplexPortal
- positive regulation of double-strand break repair Source: ComplexPortal
- positive regulation of myoblast differentiation Source: ComplexPortal
- positive regulation of stem cell population maintenance Source: ComplexPortal
- positive regulation of T cell differentiation Source: ComplexPortal
- regulation of G0 to G1 transition Source: ComplexPortal
- regulation of G1/S transition of mitotic cell cycle Source: ComplexPortal
- regulation of mitotic metaphase/anaphase transition Source: ComplexPortal
- regulation of nucleotide-excision repair Source: ComplexPortal
- regulation of transcription by RNA polymerase II Source: ProtInc
Keywordsi
Molecular function | Chromatin regulator, DNA-binding |
Biological process | Neurogenesis |
Enzyme and pathway databases
PathwayCommonsi | Q969G3 |
Reactomei | R-HSA-3214858, RMTs methylate histone arginines R-HSA-8939243, RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known |
SignaLinki | Q969G3 |
SIGNORi | Q969G3 |
Names & Taxonomyi
Protein namesi | Recommended name: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1Alternative name(s): BRG1-associated factor 57 Short name: BAF57 |
Gene namesi | Name:SMARCE1 Synonyms:BAF57 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:11109, SMARCE1 |
MIMi | 603111, gene |
neXtProti | NX_Q969G3 |
VEuPathDBi | HostDB:ENSG00000073584 |
Subcellular locationi
Nucleus
- Nucleus PROSITE-ProRule annotation1 Publication
Nucleus
- bBAF complex Source: ComplexPortal
- brahma complex Source: ComplexPortal
- nBAF complex Source: UniProtKB
- npBAF complex Source: UniProtKB
- nuclear chromosome Source: ProtInc
- nuclear matrix Source: ComplexPortal
- nucleoplasm Source: HPA
- nucleus Source: LIFEdb
- RSC-type complex Source: ComplexPortal
- SWI/SNF complex Source: UniProtKB
Other locations
- chromatin Source: UniProtKB
- kinetochore Source: ComplexPortal
- protein-containing complex Source: UniProtKB
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Meningioma (MNGMA)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_071873 | 125 – 132 | EYNESMKA → GLHRFIVL in MNGMA; found in a case of childhood clear cell meningioma; associated with disease susceptibility. 1 Publication | 8 |
Coffin-Siris syndrome 5 (CSS5)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_068215 | 73 | Y → C in CSS5. 1 PublicationCorresponds to variant dbSNP:rs387906857EnsemblClinVar. | 1 | |
Natural variantiVAR_076932 | 73 | Y → S in CSS5. 1 PublicationCorresponds to variant dbSNP:rs387906857EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, Mental retardationOrganism-specific databases
DisGeNETi | 6605 |
GeneReviewsi | SMARCE1 |
MalaCardsi | SMARCE1 |
MIMi | 607174, phenotype 616938, phenotype |
OpenTargetsi | ENSG00000073584 |
Orphaneti | 1465, Coffin-Siris syndrome 263662, Familial multiple meningioma 2495, Meningioma |
PharmGKBi | PA35959 |
Miscellaneous databases
Pharosi | Q969G3, Tbio |
Chemistry databases
DrugBanki | DB12695, Phenethyl Isothiocyanate |
Genetic variation databases
BioMutai | SMARCE1 |
DMDMi | 61247587 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000048577 | 1 – 411 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1Add BLAST | 411 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Cross-linki | 3 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 4 | Omega-N-methylarginineCombined sources | 1 | |
Modified residuei | 40 | Omega-N-methylarginineCombined sources | 1 | |
Cross-linki | 92 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources | ||
Cross-linki | 92 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources | ||
Cross-linki | 131 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 146 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 166 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 265 | PhosphoserineCombined sources | 1 | |
Cross-linki | 277 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources |
Post-translational modificationi
Keywords - PTMi
Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q969G3 |
jPOSTi | Q969G3 |
MassIVEi | Q969G3 |
MaxQBi | Q969G3 |
PaxDbi | Q969G3 |
PeptideAtlasi | Q969G3 |
PRIDEi | Q969G3 |
ProteomicsDBi | 4071 45313 7575 75754 [Q969G3-1] 75755 [Q969G3-2] |
PTM databases
iPTMneti | Q969G3 |
PhosphoSitePlusi | Q969G3 |
Expressioni
Gene expression databases
Bgeei | ENSG00000073584, Expressed in calcaneal tendon and 185 other tissues |
ExpressionAtlasi | Q969G3, baseline and differential |
Genevisiblei | Q969G3, HS |
Organism-specific databases
HPAi | ENSG00000073584, Low tissue specificity |
Interactioni
Subunit structurei
Component of the multiprotein chromatin-remodeling complexes SWI/SNF: SWI/SNF-A (BAF), SWI/SNF-B (PBAF) and related complexes. The canonical complex contains a catalytic subunit (either SMARCA4/BRG1/BAF190A or SMARCA2/BRM/BAF190B), and at least SMARCE1, ACTL6A/BAF53, SMARCC1/BAF155, SMARCC2/BAF170, and SMARCB1/SNF5/BAF47. Other subunits specific to each of the complexes may also be present permitting several possible combinations developmentally and tissue specific (PubMed:12672490, PubMed:22952240, PubMed:26601204).
Component of the BAF complex, which includes at least actin (ACTB), ARID1A/BAF250A, ARID1B/BAF250B, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C. In muscle cells, the BAF complex also contains DPF3 (PubMed:18765789).
Component of neural progenitors-specific chromatin remodeling complex (npBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, PHF10/BAF45A, ACTL6A/BAF53A and actin.
Component of neuron-specific chromatin remodeling complex (nBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, DPF1/BAF45B, DPF3/BAF45C, ACTL6B/BAF53B and actin. May be a component of the SWI/SNF-B (PBAF) chromatin remodeling complex, at least composed of SMARCA4/BRG1, SMARCB1/BAF47/SNF5, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCD2/BAF60B, perhaps SMARCD3/BAF60C, SMARCC1/BAF155, SMARCC2/BAF170, PBRM1/BAF180, ARID2/BAF200 and actin (ACTB) (PubMed:22952240, PubMed:26601204).
Interacts with BRDT (By similarity). Also binds to the SRC/p160 family of histone acetyltransferases (HATs) composed of NCOA1, NCOA2, and NCOA3.
Interacts with RCOR1/CoREST, NR3C1 and ZMIM2/ZIMP7 (PubMed:12192000, PubMed:12917342, PubMed:16051670).
3 PublicationsBy similarity4 PublicationsBinary interactionsi
Q969G3
Isoform 1 [Q969G3-1]
With | #Exp. | IntAct |
---|---|---|
RCOR1 [Q9UKL0] | 2 | EBI-455091,EBI-926563 |
Isoform 2 [Q969G3-2]
With | #Exp. | IntAct |
---|---|---|
RCOR1 [Q9UKL0] | 4 | EBI-455096,EBI-926563 |
SMARCA4 [P51532] | 2 | EBI-455096,EBI-302489 |
GO - Molecular functioni
- nuclear receptor binding Source: BHF-UCL
- protein N-terminus binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 112489, 200 interactors |
ComplexPortali | CPX-1164, SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1A-SMARCA2 variant CPX-1194, Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1A-SMARCA2 variant CPX-1195, Embryonic stem cell-specific SWI/SNF ATP-dependent chromatin remodeling complex CPX-1196, Polybromo-associated SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B variant CPX-1199, Polybromo-associated SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A variant CPX-1201, Neural progenitor-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA2 variant CPX-1202, Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA2 variant CPX-1203, Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA2 variant CPX-1204, SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1A-SMARCA4 variant CPX-1205, SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1B-SMARCA2 variant CPX-1206, SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1B-SMARCA4 variant CPX-1207, SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA2 variant CPX-1209, SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA4 variant CPX-1210, SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA2 variant CPX-1211, SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA4 variant CPX-1212, Neural progenitor-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA4 variant CPX-1213, Neural progenitor-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA2 variant CPX-1215, Neural progenitor-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA4 variant CPX-1216, Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA4 variant CPX-1217, Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA2 variant CPX-1218, Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA4 variant CPX-1219, Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA4 variant CPX-1220, Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA2 variant CPX-1221, Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA4 variant CPX-1222, Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1A-SMARCA4 variant CPX-1223, Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1B-SMARCA2 variant CPX-1224, Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1B-SMARCA4 variant CPX-1225, Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA2 variant CPX-1226, Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA4 variant CPX-1227, Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA2 variant CPX-1228, Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA4 variant |
CORUMi | Q969G3 |
DIPi | DIP-27614N DIP-33041N |
IntActi | Q969G3, 139 interactors |
MINTi | Q969G3 |
STRINGi | 9606.ENSP00000323967 |
Miscellaneous databases
RNActi | Q969G3, protein |
Structurei
Secondary structure
3D structure databases
AlphaFoldDBi | Q969G3 |
SMRi | Q969G3 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 23 | DisorderedSequence analysisAdd BLAST | 23 | |
Regioni | 42 – 70 | DisorderedSequence analysisAdd BLAST | 29 | |
Regioni | 153 – 175 | DisorderedSequence analysisAdd BLAST | 23 | |
Regioni | 296 – 411 | DisorderedSequence analysisAdd BLAST | 116 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 220 – 319 | Sequence analysisAdd BLAST | 100 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 1 – 18 | Pro residuesSequence analysisAdd BLAST | 18 | |
Compositional biasi | 42 – 56 | Polar residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 296 – 311 | Basic and acidic residuesSequence analysisAdd BLAST | 16 | |
Compositional biasi | 324 – 353 | Basic and acidic residuesSequence analysisAdd BLAST | 30 | |
Compositional biasi | 376 – 398 | Polar residuesSequence analysisAdd BLAST | 23 |
Domaini
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | KOG4715, Eukaryota |
GeneTreei | ENSGT00390000003628 |
InParanoidi | Q969G3 |
OMAi | QEYDIER |
PhylomeDBi | Q969G3 |
TreeFami | TF321146 |
Family and domain databases
Gene3Di | 1.10.30.10, 1 hit |
InterProi | View protein in InterPro IPR030089, BAF57 IPR009071, HMG_box_dom IPR036910, HMG_box_dom_sf |
PANTHERi | PTHR46232, PTHR46232, 1 hit |
Pfami | View protein in Pfam PF00505, HMG_box, 1 hit |
SMARTi | View protein in SMART SM00398, HMG, 1 hit |
SUPFAMi | SSF47095, SSF47095, 1 hit |
PROSITEi | View protein in PROSITE PS50118, HMG_BOX_2, 1 hit |
s (6+)i Sequence
Sequence statusi: Complete.
This entry describes 6 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 6 described isoforms and 19 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MSKRPSYAPP PTPAPATQMP STPGFVGYNP YSHLAYNNYR LGGNPGTNSR
60 70 80 90 100
VTASSGITIP KPPKPPDKPL MPYMRYSRKV WDQVKASNPD LKLWEIGKII
110 120 130 140 150
GGMWRDLTDE EKQEYLNEYE AEKIEYNESM KAYHNSPAYL AYINAKSRAE
160 170 180 190 200
AALEEESRQR QSRMEKGEPY MSIQPAEDPD DYDDGFSMKH TATARFQRNH
210 220 230 240 250
RLISEILSES VVPDVRSVVT TARMQVLKRQ VQSLMVHQRK LEAELLQIEE
260 270 280 290 300
RHQEKKRKFL ESTDSFNNEL KRLCGLKVEV DMEKIAAEIA QAEEQARKRQ
310 320 330 340 350
EEREKEAAEQ AERSQSSIVP EEEQAANKGE EKKDDENIPM ETEETHLEET
360 370 380 390 400
TESQQNGEEG TSTPEDKESG QEGVDSMAEE GTSDSNTGSE SNSATVEEPP
410
TDPIPEDEKK E
Computationally mapped potential isoform sequencesi
There are 19 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketB4DGM3 | B4DGM3_HUMAN | SWI/SNF-related matrix-associated a... | SMARCE1 | 393 | Annotation score: | ||
A0A2R8Y4T4 | A0A2R8Y4T4_HUMAN | SWI/SNF-related matrix-associated a... | SMARCE1 | 335 | Annotation score: | ||
A0A2R8YES3 | A0A2R8YES3_HUMAN | SWI/SNF-related matrix-associated a... | SMARCE1 | 347 | Annotation score: | ||
J3QKX6 | J3QKX6_HUMAN | SWI/SNF-related matrix-associated a... | SMARCE1 | 135 | Annotation score: | ||
A0A2R8Y765 | A0A2R8Y765_HUMAN | SWI/SNF-related matrix-associated a... | SMARCE1 | 277 | Annotation score: | ||
A0A2R8Y7I9 | A0A2R8Y7I9_HUMAN | SWI/SNF-related matrix-associated a... | SMARCE1 | 332 | Annotation score: | ||
A0A2R8Y7U4 | A0A2R8Y7U4_HUMAN | SWI/SNF-related matrix-associated a... | SMARCE1 | 297 | Annotation score: | ||
A0A2R8Y855 | A0A2R8Y855_HUMAN | SWI/SNF-related matrix-associated a... | SMARCE1 | 367 | Annotation score: | ||
A0A2U3TZQ7 | A0A2U3TZQ7_HUMAN | SWI/SNF-related matrix-associated a... | SMARCE1 | 311 | Annotation score: | ||
A0A2R8YD78 | A0A2R8YD78_HUMAN | SWI/SNF-related matrix-associated a... | SMARCE1 | 115 | Annotation score: | ||
There are more potential isoformsShow all |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 46 | G → S in AAP35840 (Ref. 3) Curated | 1 | |
Sequence conflicti | 46 | G → S in AAH07082 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 46 | G → S in AAH11017 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_068215 | 73 | Y → C in CSS5. 1 PublicationCorresponds to variant dbSNP:rs387906857EnsemblClinVar. | 1 | |
Natural variantiVAR_076932 | 73 | Y → S in CSS5. 1 PublicationCorresponds to variant dbSNP:rs387906857EnsemblClinVar. | 1 | |
Natural variantiVAR_071873 | 125 – 132 | EYNESMKA → GLHRFIVL in MNGMA; found in a case of childhood clear cell meningioma; associated with disease susceptibility. 1 Publication | 8 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_047604 | 1 – 70 | Missing in isoform 3 and isoform 6. 2 PublicationsAdd BLAST | 70 | |
Alternative sequenceiVSP_047825 | 17 – 51 | Missing in isoform 4 and isoform 5. 1 PublicationAdd BLAST | 35 | |
Alternative sequenceiVSP_047826 | 344 – 411 | ETHLE…DEKKE → KNCQLCPRKTLTSRYTDFPD in isoform 5 and isoform 6. 1 PublicationAdd BLAST | 68 | |
Alternative sequenceiVSP_011801 | 344 – 363 | ETHLE…EGTST → KNCQLCPRKTLTSRYTDFPD in isoform 2. 1 PublicationAdd BLAST | 20 | |
Alternative sequenceiVSP_011802 | 364 – 411 | Missing in isoform 2. 1 PublicationAdd BLAST | 48 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF035262 Genomic DNA Translation: AAC04509.1 EU327017 mRNA Translation: ACA81391.1 EU327018 mRNA Translation: ACA81392.1 EU327019 mRNA Translation: ACA81393.1 EU327020 mRNA Translation: ACA81394.1 BT007176 mRNA Translation: AAP35840.1 AK001532 mRNA Translation: BAG50933.1 AK095047 mRNA Translation: BAG52975.1 AK294218 mRNA Translation: BAG57525.1 AC004585 Genomic DNA No translation available. AC073508 Genomic DNA No translation available. CH471152 Genomic DNA Translation: EAW60670.1 BC007082 mRNA Translation: AAH07082.1 BC011017 mRNA Translation: AAH11017.1 BC063700 mRNA Translation: AAH63700.1 |
CCDSi | CCDS11370.1 [Q969G3-1] |
RefSeqi | NP_003070.3, NM_003079.4 [Q969G3-1] |
Genome annotation databases
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF035262 Genomic DNA Translation: AAC04509.1 EU327017 mRNA Translation: ACA81391.1 EU327018 mRNA Translation: ACA81392.1 EU327019 mRNA Translation: ACA81393.1 EU327020 mRNA Translation: ACA81394.1 BT007176 mRNA Translation: AAP35840.1 AK001532 mRNA Translation: BAG50933.1 AK095047 mRNA Translation: BAG52975.1 AK294218 mRNA Translation: BAG57525.1 AC004585 Genomic DNA No translation available. AC073508 Genomic DNA No translation available. CH471152 Genomic DNA Translation: EAW60670.1 BC007082 mRNA Translation: AAH07082.1 BC011017 mRNA Translation: AAH11017.1 BC063700 mRNA Translation: AAH63700.1 |
CCDSi | CCDS11370.1 [Q969G3-1] |
RefSeqi | NP_003070.3, NM_003079.4 [Q969G3-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
6LTH | electron microscopy | 3.00 | Q | 1-411 | [»] | |
6LTJ | electron microscopy | 3.70 | Q | 1-411 | [»] | |
7CYU | X-ray | 2.55 | A | 66-134 | [»] | |
AlphaFoldDBi | Q969G3 | |||||
SMRi | Q969G3 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 112489, 200 interactors |
ComplexPortali | CPX-1164, SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1A-SMARCA2 variant CPX-1194, Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1A-SMARCA2 variant CPX-1195, Embryonic stem cell-specific SWI/SNF ATP-dependent chromatin remodeling complex CPX-1196, Polybromo-associated SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B variant CPX-1199, Polybromo-associated SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A variant CPX-1201, Neural progenitor-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA2 variant CPX-1202, Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA2 variant CPX-1203, Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA2 variant CPX-1204, SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1A-SMARCA4 variant CPX-1205, SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1B-SMARCA2 variant CPX-1206, SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1B-SMARCA4 variant CPX-1207, SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA2 variant CPX-1209, SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA4 variant CPX-1210, SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA2 variant CPX-1211, SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA4 variant CPX-1212, Neural progenitor-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA4 variant CPX-1213, Neural progenitor-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA2 variant CPX-1215, Neural progenitor-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA4 variant CPX-1216, Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA4 variant CPX-1217, Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA2 variant CPX-1218, Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA4 variant CPX-1219, Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA4 variant CPX-1220, Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA2 variant CPX-1221, Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA4 variant CPX-1222, Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1A-SMARCA4 variant CPX-1223, Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1B-SMARCA2 variant CPX-1224, Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1B-SMARCA4 variant CPX-1225, Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA2 variant CPX-1226, Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA4 variant CPX-1227, Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA2 variant CPX-1228, Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA4 variant |
CORUMi | Q969G3 |
DIPi | DIP-27614N DIP-33041N |
IntActi | Q969G3, 139 interactors |
MINTi | Q969G3 |
STRINGi | 9606.ENSP00000323967 |
Chemistry databases
DrugBanki | DB12695, Phenethyl Isothiocyanate |
PTM databases
iPTMneti | Q969G3 |
PhosphoSitePlusi | Q969G3 |
Genetic variation databases
BioMutai | SMARCE1 |
DMDMi | 61247587 |
Proteomic databases
EPDi | Q969G3 |
jPOSTi | Q969G3 |
MassIVEi | Q969G3 |
MaxQBi | Q969G3 |
PaxDbi | Q969G3 |
PeptideAtlasi | Q969G3 |
PRIDEi | Q969G3 |
ProteomicsDBi | 4071 45313 7575 75754 [Q969G3-1] 75755 [Q969G3-2] |
Protocols and materials databases
ABCDi | Q969G3, 1 sequenced antibody |
Antibodypediai | 1299, 395 antibodies from 43 providers |
DNASUi | 6605 |
Genome annotation databases
Organism-specific databases
CTDi | 6605 |
DisGeNETi | 6605 |
GeneCardsi | SMARCE1 |
GeneReviewsi | SMARCE1 |
HGNCi | HGNC:11109, SMARCE1 |
HPAi | ENSG00000073584, Low tissue specificity |
MalaCardsi | SMARCE1 |
MIMi | 603111, gene 607174, phenotype 616938, phenotype |
neXtProti | NX_Q969G3 |
OpenTargetsi | ENSG00000073584 |
Orphaneti | 1465, Coffin-Siris syndrome 263662, Familial multiple meningioma 2495, Meningioma |
PharmGKBi | PA35959 |
VEuPathDBi | HostDB:ENSG00000073584 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4715, Eukaryota |
GeneTreei | ENSGT00390000003628 |
InParanoidi | Q969G3 |
OMAi | QEYDIER |
PhylomeDBi | Q969G3 |
TreeFami | TF321146 |
Enzyme and pathway databases
PathwayCommonsi | Q969G3 |
Reactomei | R-HSA-3214858, RMTs methylate histone arginines R-HSA-8939243, RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known |
SignaLinki | Q969G3 |
SIGNORi | Q969G3 |
Miscellaneous databases
BioGRID-ORCSi | 6605, 528 hits in 1113 CRISPR screens |
ChiTaRSi | SMARCE1, human |
GeneWikii | SMARCE1 |
GenomeRNAii | 6605 |
Pharosi | Q969G3, Tbio |
PROi | PR:Q969G3 |
RNActi | Q969G3, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000073584, Expressed in calcaneal tendon and 185 other tissues |
ExpressionAtlasi | Q969G3, baseline and differential |
Genevisiblei | Q969G3, HS |
Family and domain databases
Gene3Di | 1.10.30.10, 1 hit |
InterProi | View protein in InterPro IPR030089, BAF57 IPR009071, HMG_box_dom IPR036910, HMG_box_dom_sf |
PANTHERi | PTHR46232, PTHR46232, 1 hit |
Pfami | View protein in Pfam PF00505, HMG_box, 1 hit |
SMARTi | View protein in SMART SM00398, HMG, 1 hit |
SUPFAMi | SSF47095, SSF47095, 1 hit |
PROSITEi | View protein in PROSITE PS50118, HMG_BOX_2, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | SMCE1_HUMAN | |
Accessioni | Q969G3Primary (citable) accession number: Q969G3 Secondary accession number(s): B3KMC1 O43539 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 25, 2004 |
Last sequence update: | October 25, 2004 | |
Last modified: | May 25, 2022 | |
This is version 190 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references