Q12824 · SNF5_HUMAN
- ProteinSWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1
- GeneSMARCB1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids385 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Plays a key role in cell-cycle control and causes cell cycle arrest in G0/G1
GO annotations
Keywords
- Molecular function
- Biological process
Enzyme and pathway databases
The SMARCB1 C-terminus binds nucleosomes, the primary functional unit of eukaryotic genomic organization. The C-terminal domain (CTD) of SMARCB1 contains a positively charged alpha helix that interacts with nucleosomes to mediate mSWI/SNF (BAF) complex chromatin remodeling activity. This interaction is evolutionarily conserved through yeast. Single amino acid mutations identified in the neurodevelopmental disorder Coffin-Siris Syndrome disrupt this interaction in vitro.
Names & Taxonomy
Protein names
- Recommended nameSWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B 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 accessionQ12824
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Rhabdoid tumor predisposition syndrome 1 (RTPS1)
- Note
- DescriptionA familial cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors. Rhabdoid tumors are the most aggressive and lethal malignancies occurring in early childhood.
- See alsoMIM:609322
Schwannomatosis 1 (SWN1)
- Note
- DescriptionAn autosomal dominant tumor predisposition syndrome characterized by the development of multiple benign nerve sheath tumors called schwannomas on cranial, spinal, and peripheral nerves, without involvement of the vestibular nerve. Affected individuals may also have multiple meningiomas.
- See alsoMIM:162091
Coffin-Siris syndrome 3 (CSS3)
- 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:614608
Natural variants in CSS3
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_080263 | 37 | R>H | in CSS3; uncertain significance; dbSNP:rs398122368 | |
VAR_068178 | 364 | missing | in CSS3 | |
VAR_076934 | 366 | R>C | in CSS3; dbSNP:rs886039520 | |
VAR_076935 | 374 | R>Q | in CSS3; dbSNP:rs1057517825 | |
VAR_068179 | 377 | R>H | in CSS3; dbSNP:rs387906812 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_080263 | 37 | in CSS3; uncertain significance; dbSNP:rs398122368 | |||
Sequence: R → H | ||||||
Natural variant | VAR_068178 | 364 | in CSS3 | |||
Sequence: Missing | ||||||
Natural variant | VAR_076934 | 366 | in CSS3; dbSNP:rs886039520 | |||
Sequence: R → C | ||||||
Natural variant | VAR_076935 | 374 | in CSS3; dbSNP:rs1057517825 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_068179 | 377 | in CSS3; dbSNP:rs387906812 | |||
Sequence: R → H |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 2,161 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
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_0000205948 | 1-385 | UniProt | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 | |||
Sequence: MMMMALSKTFGQKPVKFQLEDDGEFYMIGSEVGNYLRMFRGSLYKRYPSLWRRLATVEERKKIVASSHGKKTKPNTKDHGYTTLATSVTLLKASEVEEILDGNDEKYKAVSISTEPPTYLREQKAKRNSQWVPTLPNSSHHLDAVPCSTTINRNRMGRDKKRTFPLCFDDHDPAVIHENASQPEVLVPIRLDMEIDGQKLRDAFTWNMNEKLMTPEMFSEILCDDLDLNPLTFVPAIASAIRQQIESYPTDSILEDQSDQRVIIKLNIHVGNISLVDQFEWDMSEKENSPEKFALKLCSELGLGGEFVTTIAYSIRGQLSWHQKTYAFSENPLPTVEIAIRNTGDADQWCPLLETLTDAEMEKKIRDQDRNTRRMRRLANTAPAW | |||||||
Cross-link | 106 | UniProt | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2) | ||||
Sequence: K | |||||||
Cross-link | 108 | UniProt | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2) | ||||
Sequence: K | |||||||
Cross-link | 124 | UniProt | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2) | ||||
Sequence: K | |||||||
Modified residue | 129 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 129 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 134 | PRIDE | Phosphothreonine | ||||
Sequence: T | |||||||
Modified residue (large scale data) | 139 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Cross-link | 161 | UniProt | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2) | ||||
Sequence: K |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Interaction
Subunit
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 (By similarity).
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 (PubMed:26601204).
Binds to double-stranded DNA. Interacts with CEBPB (when not methylated) (PubMed:20111005).
Interacts with PIH1D1 (PubMed:22368283).
Interacts with MYK and MAEL (PubMed:10319872).
Interacts with PPP1R15A (PubMed:10490642, PubMed:12016208).
Interacts with DPF2 (PubMed:20460684).
Interacts with YWHAZ (PubMed:16959763).
Interacts with ERCC6 (PubMed:24874740).
Interacts with FOS, FOSB isoform 1 and 2, FOSL1 and FOSL2 (By similarity).
Interacts with Epstein-Barr virus protein EBNA-2 (PubMed:8709224).
Binary interactions
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region, repeat.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 1-113 | DNA-binding | ||||
Sequence: MMMMALSKTFGQKPVKFQLEDDGEFYMIGSEVGNYLRMFRGSLYKRYPSLWRRLATVEERKKIVASSHGKKTKPNTKDHGYTTLATSVTLLKASEVEEILDGNDEKYKAVSIS | ||||||
Region | 183-243 | HIV-1 integrase-binding | ||||
Sequence: PEVLVPIRLDMEIDGQKLRDAFTWNMNEKLMTPEMFSEILCDDLDLNPLTFVPAIASAIRQ | ||||||
Repeat | 186-245 | 1 | ||||
Sequence: LVPIRLDMEIDGQKLRDAFTWNMNEKLMTPEMFSEILCDDLDLNPLTFVPAIASAIRQQI | ||||||
Region | 186-245 | MYC-binding | ||||
Sequence: LVPIRLDMEIDGQKLRDAFTWNMNEKLMTPEMFSEILCDDLDLNPLTFVPAIASAIRQQI | ||||||
Region | 186-319 | 2 X approximate tandem repeats | ||||
Sequence: LVPIRLDMEIDGQKLRDAFTWNMNEKLMTPEMFSEILCDDLDLNPLTFVPAIASAIRQQIESYPTDSILEDQSDQRVIIKLNIHVGNISLVDQFEWDMSEKENSPEKFALKLCSELGLGGEFVTTIAYSIRGQL | ||||||
Repeat | 259-319 | 2 | ||||
Sequence: DQRVIIKLNIHVGNISLVDQFEWDMSEKENSPEKFALKLCSELGLGGEFVTTIAYSIRGQL | ||||||
Region | 304-318 | Interaction with PPP1R15A | ||||
Sequence: GGEFVTTIAYSIRGQ |
Domain
Sequence similarities
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoform
- Sequence statusComplete
This entry describes 2 isoforms produced by Alternative splicing.
Q12824-1
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.
- NameA
- SynonymsINI1A
- Length385
- Mass (Da)44,141
- Last updated2004-08-16 v2
- ChecksumB7BCA26875BD943D
Q12824-2
- NameB
- SynonymsINI1B
- Differences from canonical
- 69-77: Missing
Computationally mapped potential isoform sequences
There are 11 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
A0A0U1RQQ2 | A0A0U1RQQ2_HUMAN | SMARCB1 | 81 | ||
A0A0U1RRB8 | A0A0U1RRB8_HUMAN | SMARCB1 | 90 | ||
A0A2R8Y5Z2 | A0A2R8Y5Z2_HUMAN | SMARCB1 | 32 | ||
A0A2R8Y5N5 | A0A2R8Y5N5_HUMAN | SMARCB1 | 271 | ||
A0A2R8YDN6 | A0A2R8YDN6_HUMAN | SMARCB1 | 78 | ||
A0A2R8YEE8 | A0A2R8YEE8_HUMAN | SMARCB1 | 216 | ||
C9JTA6 | C9JTA6_HUMAN | SMARCB1 | 248 | ||
B5MCL5 | B5MCL5_HUMAN | SMARCB1 | 147 | ||
A0A0G2JSE9 | A0A0G2JSE9_HUMAN | SMARCB1 | 227 | ||
A0A0G2JRV3 | A0A0G2JRV3_HUMAN | SMARCB1 | 339 | ||
G5E975 | G5E975_HUMAN | SMARCB1 | 394 |
Features
Showing features for alternative sequence, sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_004399 | 69-77 | in isoform B | |||
Sequence: Missing | ||||||
Sequence conflict | 136 | in Ref. 1 and 2; CAA76639 | ||||
Sequence: P → S | ||||||
Sequence conflict | 378 | in Ref. 2; CAA76639 | ||||
Sequence: L → E | ||||||
Sequence conflict | 382 | in Ref. 1 and 2; CAA76639 | ||||
Sequence: A → G |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
U04847 EMBL· GenBank· DDBJ | AAA81905.1 EMBL· GenBank· DDBJ | mRNA | ||
Y17118 EMBL· GenBank· DDBJ | CAA76639.1 EMBL· GenBank· DDBJ | Genomic DNA | Sequence problems. | |
Y17119 EMBL· GenBank· DDBJ | CAA76639.1 EMBL· GenBank· DDBJ | Genomic DNA | Sequence problems. | |
Y17120 EMBL· GenBank· DDBJ | CAA76639.1 EMBL· GenBank· DDBJ | Genomic DNA | Sequence problems. | |
Y17121 EMBL· GenBank· DDBJ | CAA76639.1 EMBL· GenBank· DDBJ | Genomic DNA | Sequence problems. | |
Y17122 EMBL· GenBank· DDBJ | CAA76639.1 EMBL· GenBank· DDBJ | Genomic DNA | Sequence problems. | |
Y17123 EMBL· GenBank· DDBJ | CAA76639.1 EMBL· GenBank· DDBJ | Genomic DNA | Sequence problems. | |
Y17124 EMBL· GenBank· DDBJ | CAA76639.1 EMBL· GenBank· DDBJ | Genomic DNA | Sequence problems. | |
Y17125 EMBL· GenBank· DDBJ | CAA76639.1 EMBL· GenBank· DDBJ | Genomic DNA | Sequence problems. | |
Y17126 EMBL· GenBank· DDBJ | CAA76639.1 EMBL· GenBank· DDBJ | Genomic DNA | Sequence problems. | |
AJ011738 EMBL· GenBank· DDBJ | CAA09759.1 EMBL· GenBank· DDBJ | mRNA | ||
AJ011737 EMBL· GenBank· DDBJ | CAA09758.1 EMBL· GenBank· DDBJ | mRNA | ||
AB017523 EMBL· GenBank· DDBJ | BAC77068.1 EMBL· GenBank· DDBJ | mRNA | ||
CR456581 EMBL· GenBank· DDBJ | CAG30467.1 EMBL· GenBank· DDBJ | mRNA | ||
AK021419 EMBL· GenBank· DDBJ | BAG51033.1 EMBL· GenBank· DDBJ | mRNA | ||
DQ230988 EMBL· GenBank· DDBJ | ABB02184.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
CH471095 EMBL· GenBank· DDBJ | EAW59606.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC117114 EMBL· GenBank· DDBJ | AAI17115.1 EMBL· GenBank· DDBJ | mRNA | ||
BC143667 EMBL· GenBank· DDBJ | AAI43668.1 EMBL· GenBank· DDBJ | mRNA |