Q969G3 · SMCE1_HUMAN
- ProteinSWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1
- GeneSMARCE1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids411 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
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
Features
Showing features for dna binding.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
DNA binding | 66-134 | HMG box | ||||
Sequence: PDKPLMPYMRYSRKVWDQVKASNPDLKLWEIGKIIGGMWRDLTDEEKQEYLNEYEAEKIEYNESMKAYH |
GO annotations
Keywords
- Molecular function
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameSWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ969G3
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Meningioma (MNGMA)
- Note
- DescriptionA common neoplasm of the central nervous system derived from arachnoidal cells. The majority of meningiomas are well differentiated vascular tumors which grow slowly and have a low potential to be invasive, although malignant subtypes occur. Most cases are sporadic. Familial occurrence of meningioma is rare.
- See alsoMIM:607174
Natural variants in MNGMA
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_071873 | 125-132 | EYNESMKA>GLHRFIVL | in MNGMA; uncertain significance |
Coffin-Siris syndrome 5 (CSS5)
- Note
- DescriptionA form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported.
- See alsoMIM:616938
Natural variants in CSS5
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_068215 | 73 | Y>C | in CSS5; dbSNP:rs387906857 | |
VAR_076932 | 73 | Y>S | in CSS5; dbSNP:rs387906857 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_068215 | 73 | in CSS5; dbSNP:rs387906857 | |||
Sequence: Y → C | ||||||
Natural variant | VAR_076932 | 73 | in CSS5; dbSNP:rs387906857 | |||
Sequence: Y → S | ||||||
Natural variant | VAR_071873 | 125-132 | in MNGMA; uncertain significance | |||
Sequence: EYNESMKA → GLHRFIVL |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 570 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for chain, cross-link, modified residue, modified residue (large scale data).
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000048577 | 1-411 | UniProt | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1 | |||
Sequence: MSKRPSYAPPPTPAPATQMPSTPGFVGYNPYSHLAYNNYRLGGNPGTNSRVTASSGITIPKPPKPPDKPLMPYMRYSRKVWDQVKASNPDLKLWEIGKIIGGMWRDLTDEEKQEYLNEYEAEKIEYNESMKAYHNSPAYLAYINAKSRAEAALEEESRQRQSRMEKGEPYMSIQPAEDPDDYDDGFSMKHTATARFQRNHRLISEILSESVVPDVRSVVTTARMQVLKRQVQSLMVHQRKLEAELLQIEERHQEKKRKFLESTDSFNNELKRLCGLKVEVDMEKIAAEIAQAEEQARKRQEEREKEAAEQAERSQSSIVPEEEQAANKGEEKKDDENIPMETEETHLEETTESQQNGEEGTSTPEDKESGQEGVDSMAEEGTSDSNTGSESNSATVEEPPTDPIPEDEKKE | |||||||
Cross-link | 3 | UniProt | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2) | ||||
Sequence: K | |||||||
Modified residue | 4 | UniProt | Omega-N-methylarginine | ||||
Sequence: R | |||||||
Modified residue | 40 | UniProt | Omega-N-methylarginine | ||||
Sequence: R | |||||||
Cross-link | 92 | UniProt | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate | ||||
Sequence: K | |||||||
Cross-link | 92 | UniProt | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate | ||||
Sequence: K | |||||||
Cross-link | 131 | UniProt | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2) | ||||
Sequence: K | |||||||
Modified residue (large scale data) | 136 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Cross-link | 146 | UniProt | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2) | ||||
Sequence: K | |||||||
Cross-link | 166 | UniProt | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2) | ||||
Sequence: K | |||||||
Modified residue (large scale data) | 204 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 265 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 265 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Cross-link | 277 | UniProt | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2) | ||||
Sequence: K | |||||||
Modified residue (large scale data) | 314 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 316 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 317 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 353 | PRIDE | Phosphoserine | ||||
Sequence: S |
Post-translational modification
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Interaction
Subunit
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).
Binary interactions
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for compositional bias, region, coiled coil.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Compositional bias | 1-18 | Pro residues | ||||
Sequence: MSKRPSYAPPPTPAPATQ | ||||||
Region | 1-23 | Disordered | ||||
Sequence: MSKRPSYAPPPTPAPATQMPSTP | ||||||
Compositional bias | 42-56 | Polar residues | ||||
Sequence: GGNPGTNSRVTASSG | ||||||
Region | 42-70 | Disordered | ||||
Sequence: GGNPGTNSRVTASSGITIPKPPKPPDKPL | ||||||
Region | 153-175 | Disordered | ||||
Sequence: LEEESRQRQSRMEKGEPYMSIQP | ||||||
Coiled coil | 220-319 | |||||
Sequence: TTARMQVLKRQVQSLMVHQRKLEAELLQIEERHQEKKRKFLESTDSFNNELKRLCGLKVEVDMEKIAAEIAQAEEQARKRQEEREKEAAEQAERSQSSIV | ||||||
Compositional bias | 296-311 | Basic and acidic residues | ||||
Sequence: ARKRQEEREKEAAEQA | ||||||
Region | 296-411 | Disordered | ||||
Sequence: ARKRQEEREKEAAEQAERSQSSIVPEEEQAANKGEEKKDDENIPMETEETHLEETTESQQNGEEGTSTPEDKESGQEGVDSMAEEGTSDSNTGSESNSATVEEPPTDPIPEDEKKE | ||||||
Compositional bias | 324-353 | Basic and acidic residues | ||||
Sequence: QAANKGEEKKDDENIPMETEETHLEETTES | ||||||
Compositional bias | 376-398 | Polar residues | ||||
Sequence: SMAEEGTSDSNTGSESNSATVEE |
Domain
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
This entry describes 6 isoforms produced by Alternative splicing.
Q969G3-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- SynonymsBAF57
- Length411
- Mass (Da)46,649
- Last updated2004-10-25 v2
- Checksum6F1C1B7917BAD506
Q969G3-2
- Name2
- SynonymsBAF57v
Q969G3-3
- Name3
- Differences from canonical
- 1-70: Missing
Q969G3-4
- Name4
- Differences from canonical
- 17-51: Missing
Q969G3-5
- Name5
Q969G3-6
- Name6
Computationally mapped potential isoform sequences
There are 19 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
J3KT85 | J3KT85_HUMAN | SMARCE1 | 109 | ||
A0A2R8Y7U4 | A0A2R8Y7U4_HUMAN | SMARCE1 | 297 | ||
A0A2R8Y855 | A0A2R8Y855_HUMAN | SMARCE1 | 367 | ||
A0A2R8Y7I9 | A0A2R8Y7I9_HUMAN | SMARCE1 | 332 | ||
A0A2R8Y765 | A0A2R8Y765_HUMAN | SMARCE1 | 277 | ||
A0A2R8Y4T4 | A0A2R8Y4T4_HUMAN | SMARCE1 | 335 | ||
A0A2R8YEB8 | A0A2R8YEB8_HUMAN | SMARCE1 | 96 | ||
A0A2R8YDQ4 | A0A2R8YDQ4_HUMAN | SMARCE1 | 55 | ||
A0A2R8YDD9 | A0A2R8YDD9_HUMAN | SMARCE1 | 51 | ||
A0A2R8YD78 | A0A2R8YD78_HUMAN | SMARCE1 | 115 | ||
A0A2R8YFC8 | A0A2R8YFC8_HUMAN | SMARCE1 | 58 | ||
A0A2R8YES3 | A0A2R8YES3_HUMAN | SMARCE1 | 347 | ||
A0A2U3TZQ7 | A0A2U3TZQ7_HUMAN | SMARCE1 | 311 | ||
B4DGM3 | B4DGM3_HUMAN | SMARCE1 | 393 | ||
J3QKX6 | J3QKX6_HUMAN | SMARCE1 | 135 | ||
J3QKS7 | J3QKS7_HUMAN | SMARCE1 | 287 | ||
J3QL66 | J3QL66_HUMAN | SMARCE1 | 77 | ||
J3QR61 | J3QR61_HUMAN | SMARCE1 | 259 | ||
J3QS32 | J3QS32_HUMAN | SMARCE1 | 52 |
Features
Showing features for compositional bias, alternative sequence, sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Compositional bias | 1-18 | Pro residues | ||||
Sequence: MSKRPSYAPPPTPAPATQ | ||||||
Alternative sequence | VSP_047604 | 1-70 | in isoform 3 and isoform 6 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_047825 | 17-51 | in isoform 4 and isoform 5 | |||
Sequence: Missing | ||||||
Compositional bias | 42-56 | Polar residues | ||||
Sequence: GGNPGTNSRVTASSG | ||||||
Sequence conflict | 46 | in Ref. 3; AAP35840 and 7; AAH07082/AAH11017 | ||||
Sequence: G → S | ||||||
Compositional bias | 296-311 | Basic and acidic residues | ||||
Sequence: ARKRQEEREKEAAEQA | ||||||
Compositional bias | 324-353 | Basic and acidic residues | ||||
Sequence: QAANKGEEKKDDENIPMETEETHLEETTES | ||||||
Alternative sequence | VSP_011801 | 344-363 | in isoform 2 | |||
Sequence: ETHLEETTESQQNGEEGTST → KNCQLCPRKTLTSRYTDFPD | ||||||
Alternative sequence | VSP_047826 | 344-411 | in isoform 5 and isoform 6 | |||
Sequence: ETHLEETTESQQNGEEGTSTPEDKESGQEGVDSMAEEGTSDSNTGSESNSATVEEPPTDPIPEDEKKE → KNCQLCPRKTLTSRYTDFPD | ||||||
Alternative sequence | VSP_011802 | 364-411 | in isoform 2 | |||
Sequence: Missing | ||||||
Compositional bias | 376-398 | Polar residues | ||||
Sequence: SMAEEGTSDSNTGSESNSATVEE |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF035262 EMBL· GenBank· DDBJ | AAC04509.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
EU327017 EMBL· GenBank· DDBJ | ACA81391.1 EMBL· GenBank· DDBJ | mRNA | ||
EU327018 EMBL· GenBank· DDBJ | ACA81392.1 EMBL· GenBank· DDBJ | mRNA | ||
EU327019 EMBL· GenBank· DDBJ | ACA81393.1 EMBL· GenBank· DDBJ | mRNA | ||
EU327020 EMBL· GenBank· DDBJ | ACA81394.1 EMBL· GenBank· DDBJ | mRNA | ||
BT007176 EMBL· GenBank· DDBJ | AAP35840.1 EMBL· GenBank· DDBJ | mRNA | ||
AK001532 EMBL· GenBank· DDBJ | BAG50933.1 EMBL· GenBank· DDBJ | mRNA | ||
AK095047 EMBL· GenBank· DDBJ | BAG52975.1 EMBL· GenBank· DDBJ | mRNA | ||
AK294218 EMBL· GenBank· DDBJ | BAG57525.1 EMBL· GenBank· DDBJ | mRNA | ||
AC004585 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC073508 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471152 EMBL· GenBank· DDBJ | EAW60670.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC007082 EMBL· GenBank· DDBJ | AAH07082.1 EMBL· GenBank· DDBJ | mRNA | ||
BC011017 EMBL· GenBank· DDBJ | AAH11017.1 EMBL· GenBank· DDBJ | mRNA | ||
BC063700 EMBL· GenBank· DDBJ | AAH63700.1 EMBL· GenBank· DDBJ | mRNA |