| UniProt/SwissProt ID: | SNF5_HUMAN |
| Description: | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 [Source:HGNC Symbol;Acc:11103] |
| Location: | chr22 q11.23 |
| Node attribute: | substrate |
| Phosphorylation site |
| Position | PhosphoPeptide | Catalytic kinase | Source |
|---|---|---|---|
| S49 | YKRYPsLWRRL | PhosphoSitePlus | |
| S120 | KAKRNsQWVPT | HPRD | |
| T372 | DQDRNtRRMRR | SNF5 | PhosphoSitePlus |
| T134 | SQWVPtLPNSS | PhosphoSitePlus | |
| S129 | KAKRNsQWVPT | PhosphoSitePlus; HPRD; phosphoELM | |
| S7 | MMMALsKTFGQ | PhosphoSitePlus | |
| T150 | VPCSTtINRNR | SNF5 | PhosphoSitePlus |
| Dephosphorylation site |
| SNF5_HUMAN do not have dephosphorylation site. |
| Mutation site |
| Ensembl ID | Variation | Source | Cancer name | Pubmed |
|---|---|---|---|---|
| ENSP00000263121 | R242K | COSMIC | Melanoma | ENSP00000263121 | P173S | COSMIC | Neoplasms by Histologic Type | 11921280 | ENSP00000263121 | R377fs*10 | COSMIC | Central Nervous System Neoplasms | 17152049 | ENSP00000263121 | R201* | COSMIC | Central Nervous System Neoplasms | 10556283 | ENSP00000263121 | R53* | COSMIC | Neoplasms by Histologic Type | 21061303 | ENSP00000263121 | Q368* | COSMIC | Lymphoma | 11104031 | ENSP00000263121 | P48S | COSMIC | Neoplasms by Histologic Type | 10556283 | ENSP00000263121 | E306* | COSMIC | Central Nervous System Neoplasms | 12429635 | ENSP00000263121 | Y47* | COSMIC | Central Nervous System Neoplasms | 10556283 | ENSP00000263121 | E280* | COSMIC | Neoplasms by Histologic Type | 10556283 | ENSP00000263121 | I112fs*31 | COSMIC | Neoplasms by Histologic Type | 17152049 | ENSP00000263121 | P290fs*6 | COSMIC | Neoplasms by Histologic Type | 12429635 | ENSP00000263121 | R158* | COSMIC | Central Nervous System Neoplasms | 10556283 | ENSP00000263121 | G317fs*3 | COSMIC | Neoplasms by Histologic Type | 9671307 | ENSP00000263121 | R341L | COSMIC | Lymphoma | 11104031 | ENSP00000263121 | A109T | COSMIC | Skin Cancer | 21984974 | ENSP00000263121 | Q257* | COSMIC | Sarcoma | 19683621 | ENSP00000263121 | Y326* | COSMIC | Central Nervous System Neoplasms | 17152049 | ENSP00000263121 | P117fs*26 | COSMIC | Neoplasms by Histologic Type | 12429635 | ENSP00000263121 | W206* | COSMIC | Central Nervous System Neoplasms | 10556283 | ENSP00000263121 | P188L | COSMIC | Melanoma | 21499247 | ENSP00000263121 | P116T | COSMIC | Pancreatic Cancer | 17040295 | ENSP00000263121 | E216* | COSMIC | Neoplasms by Histologic Type | 10602515 | ENSP00000263121 | V262I | COSMIC | Ovarian Cancer | 21720365 | ENSP00000263121 | L142* | COSMIC | Central Nervous System Neoplasms | 19276269 | ENSP00000263121 | T118fs*25 | COSMIC | Neoplasms by Histologic Type | 10556283 | ENSP00000263121 | P383fs*3 | COSMIC | Central Nervous System Neoplasms | 10914721 | ENSP00000263121 | R377H | COSMIC | Brain Cancer | 11161377 | ENSP00000263121 | R127G | COSMIC | Central Nervous System Neoplasms | 10556283 | ENSP00000263121 | W51* | COSMIC | Central Nervous System Neoplasms | 10556283 | ENSP00000263121 | A327T | COSMIC | Lung Cancer | 20668451 | ENSP00000263121 | N152D | COSMIC | Lymphoma | 12684622 | ENSP00000383984 | P342S | TCGA | Ovarian Cancer | 21720365, 18772890 | ENSP00000263121 | I237fs*30 | COSMIC | Central Nervous System Neoplasms | 19276269 | ENSP00000263121 | Q182fs*27 | COSMIC | Central Nervous System Neoplasms | 10556283 | ENSP00000263121 | K265* | COSMIC | Central Nervous System Neoplasms | 12429635 | ENSP00000383984 | Q359R | TCGA | Ovarian Cancer | 21720365, 18772890 | ENSP00000263121 | R374Q | COSMIC | Lymphoma | 11104031 | ENSP00000263121 | R40* | COSMIC | Neoplasms by Histologic Type | 10602515 | ENSP00000263121 | Q260* | COSMIC | Central Nervous System Neoplasms | 9892189 | ENSP00000263121 | P183L | COSMIC | Melanoma | 21499247 | ENSP00000263121 | Q368R | COSMIC | Ovarian Cancer | 21720365 | ENSP00000263121 | S284L | COSMIC | Neoplasms by Histologic Type | 10556283 | ENSP00000263121 | Q243* | COSMIC | Neoplasms by Histologic Type | 9892189 | ENSP00000263121 | A144fs*32 | COSMIC | Central Nervous System Neoplasms | 17152049 | ENSP00000263121 | P351S | COSMIC | Ovarian Cancer | 21720365 | ENSP00000263121 | R40fs*15 | COSMIC | Central Nervous System Neoplasms | 15779233 | ENSP00000263121 | A203T | COSMIC | Lymphoma | 11104031 | ENSP00000263121 | W281* | COSMIC | Neoplasms by Histologic Type | 12429635 | ENSP00000263121 | A382fs*4 | COSMIC | Central Nervous System Neoplasms | 12429635 | ENSP00000263121 | K211* | COSMIC | Neoplasms by Histologic Type | 10556283 | ENSP00000263121 | S49* | COSMIC | Central Nervous System Neoplasms | 12429635 |
| Differential expressed protein |
| Ensembl ID | Cancer name | Design | Sample | Change | Ratio | Pubmed |
|---|---|---|---|---|---|---|
| ENSP00000263121 | Uterine Cancer | Treatment(none vs. transfected with the pOP13 vector that containing E7) | cell line | Down | 14997504 | |
| Hyperphosphorylation site |
| SNF5_HUMAN do not have hyperphosphorylation site. |
| Direct Interaction Pair |
| Source | Target | Relationship | Resource |
|---|---|---|---|
| IRAK1_HUMAN | SNF5_HUMAN | kinase -> substrate | Robert H Newman (2013) |
| Function Annotation |
| KEGG Pathway |
| SNF5_HUMAN is not in KEGG pathway. |
| Gene Ontology |
| GO ID | GO_Term | Evidence | Ontology |
|---|---|---|---|
| GO:0071564 | npBAF complex | ISS | cellular_component |
| GO:0005654 | nucleoplasm | TAS | cellular_component |
| GO:0007049 | cell cycle | IEA | biological_process |
| GO:0007399 | nervous system development | IEA | biological_process |
| GO:0008285 | negative regulation of cell proliferation | IEA | biological_process |
| GO:0071564 | npBAF complex | IEA | cellular_component |
| GO:0003713 | transcription coactivator activity | IMP | molecular_function |
| GO:0030957 | Tat protein binding | IPI | molecular_function |
| GO:0015074 | DNA integration | TAS | biological_process |
| GO:0000228 | nuclear chromosome | IEA | cellular_component |
| GO:0016514 | SWI/SNF complex | IDA | cellular_component |
| GO:0043923 | positive regulation by host of viral transcription | IMP | biological_process |
| GO:0071565 | nBAF complex | IEA | cellular_component |
| GO:0005634 | nucleus | IEA | cellular_component |
| GO:0005634 | nucleus | IDA | cellular_component |
| GO:0005730 | nucleolus | IDA | cellular_component |
| GO:0001824 | blastocyst development | IEA | biological_process |
| GO:0006351 | transcription, DNA-dependent | IEA | biological_process |
| GO:0006337 | nucleosome disassembly | IDA | biological_process |
| GO:0045090 | retroviral genome replication | IDA | biological_process |
| GO:0030154 | cell differentiation | IEA | biological_process |
| GO:0016514 | SWI/SNF complex | IEA | cellular_component |
| GO:0006338 | chromatin remodeling | IDA | biological_process |
| GO:0005515 | protein binding | IEA | molecular_function |
| GO:0019048 | virus-host interaction | IEA | biological_process |
| GO:0051091 | positive regulation of sequence-specific DNA bindi | IDA | biological_process |
| GO:0001835 | blastocyst hatching | IEA | biological_process |
| GO:0045944 | positive regulation of transcription from RNA poly | IDA | biological_process |
| GO:0016585 | chromatin remodeling complex | IEA | cellular_component |
| GO:0071565 | nBAF complex | ISS | cellular_component |
| GO:0005515 | protein binding | IPI | molecular_function |
| GO:0001741 | XY body | IEA | cellular_component |
| GO:0006357 | regulation of transcription from RNA polymerase II | NAS | biological_process |
| GO:0002039 | p53 binding | IPI | molecular_function |