Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
6599 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
SWI/SNF related BAF chromatin remodeling complex subunit C1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
SMARCC1 |
SynonymsGene synonyms aliases
|
BAF155, CRACC1, HYC5, Rsc8, SRG3, SWI3 |
ChromosomeChromosome number
|
3 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
3p21.31 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. T |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs1576390243 |
T>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs1576408050 |
->GAGTCCCCACT |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs1576408057 |
T>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1576412227 |
->TT |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs1576426439 |
T>A |
Likely-pathogenic |
Coding sequence variant, stop gained |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000785 |
Component |
Chromatin |
HDA |
16217013 |
GO:0001741 |
Component |
XY body |
IEA |
|
GO:0003713 |
Function |
Transcription coactivator activity |
NAS |
8804307 |
GO:0005515 |
Function |
Protein binding |
IPI |
9891079, 10078207, 11238380, 12368262, 12917342, 15985610, 18303029, 20111005, 23540691, 24421395, 24434208, 24981860, 25416956, 28420882, 28533407, 28753627, 31759698, 32296183 |
GO:0005634 |
Component |
Nucleus |
IDA |
28753627 |
GO:0005654 |
Component |
Nucleoplasm |
IDA |
|
GO:0005654 |
Component |
Nucleoplasm |
TAS |
|
GO:0005737 |
Component |
Cytoplasm |
IDA |
28753627 |
GO:0006337 |
Process |
Nucleosome disassembly |
IDA |
8895581 |
GO:0006338 |
Process |
Chromatin remodeling |
IDA |
10078207, 11018012, 11726552 |
GO:0006357 |
Process |
Regulation of transcription by RNA polymerase II |
NAS |
8804307 |
GO:0007399 |
Process |
Nervous system development |
IEA |
|
GO:0008286 |
Process |
Insulin receptor signaling pathway |
IEA |
|
GO:0009887 |
Process |
Animal organ morphogenesis |
IEA |
|
GO:0016514 |
Component |
SWI/SNF complex |
IBA |
21873635 |
GO:0016514 |
Component |
SWI/SNF complex |
IDA |
8804307, 10078207, 11078522, 29374058 |
GO:0030850 |
Process |
Prostate gland development |
IEA |
|
GO:0031492 |
Function |
Nucleosomal DNA binding |
HDA |
16217013 |
GO:0032435 |
Process |
Negative regulation of proteasomal ubiquitin-dependent protein catabolic process |
IEA |
|
GO:0032991 |
Component |
Protein-containing complex |
HDA |
16217013 |
GO:0042393 |
Function |
Histone binding |
IBA |
21873635 |
GO:0043044 |
Process |
ATP-dependent chromatin remodeling |
HDA |
16217013 |
GO:0043044 |
Process |
ATP-dependent chromatin remodeling |
IBA |
21873635 |
GO:0045893 |
Process |
Positive regulation of transcription, DNA-templated |
IBA |
21873635 |
GO:0045893 |
Process |
Positive regulation of transcription, DNA-templated |
IDA |
11018012 |
GO:0045944 |
Process |
Positive regulation of transcription by RNA polymerase II |
IEA |
|
GO:0047485 |
Function |
Protein N-terminus binding |
IPI |
12917342 |
GO:0071564 |
Component |
NpBAF complex |
IBA |
21873635 |
GO:0071564 |
Component |
NpBAF complex |
ISS |
|
GO:0071565 |
Component |
NBAF complex |
IBA |
21873635 |
GO:0071565 |
Component |
NBAF complex |
ISS |
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
Q92922 |
Protein name |
SWI/SNF complex subunit SMARCC1 (BRG1-associated factor 155) (BAF155) (SWI/SNF complex 155 kDa subunit) (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily C member 1) |
Protein function |
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 chromati |
PDB |
2YUS
,
5GJK
,
6KZ7
,
6YXO
,
6YXP
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF16496 |
SWIRM-assoc_2 |
32 → 445 |
SWIRM-associated domain at the N-terminal |
Family |
PF04433 |
SWIRM |
452 → 537 |
SWIRM domain |
Domain |
PF00249 |
Myb_DNA-binding |
620 → 665 |
Myb-like DNA-binding domain |
Domain |
PF16498 |
SWIRM-assoc_3 |
706 → 772 |
SWIRM-associated domain at the C-terminal |
Family |
PF16495 |
SWIRM-assoc_1 |
871 → 954 |
SWIRM-associated region 1 |
Family |
|
Sequence |
|
Sequence length |
1105 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
|
|
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Adenocarcinoma |
Adenocarcinoma, Adenocarcinoma, Basal Cell, Adenocarcinoma, Oxyphilic, Adenocarcinoma, Tubular |
rs121913530, rs886039394, rs121913474 |
21552421 |
Carcinoma |
Carcinoma, Cribriform, Carcinoma, Granular Cell |
rs121912654, rs555607708, rs786202962, rs1564055259 |
21552421 |
Lung adenocarcinoma |
Adenocarcinoma of lung (disorder) |
rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370, rs760043106, rs1057519788, rs1131692238, rs1131692237, rs1554350382 |
27602772 |
Lung cancer |
Malignant neoplasm of lung |
rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135 |
21552421 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Lung neoplasms |
Lung Neoplasms |
|
21552421 |
|