PBRM1 - polybromo 1 Gene
Also Known as PB1; RCC; BAF180; SMARCH1
Species: Homo sapiens
About PBRM1
This gene has 20 transcripts (splice variants), 222 orthologues and is associated with 130 phenotypes. Ubiquitous expression in thyroid (RPKM 10.3), ovary (RPKM 8.8) and 25 other tissues.
Summary
This locus encodes a subunit of ATP-dependent chromatin-remodeling complexes. The encoded protein has been identified as in integral component of complexes necessary for ligand-dependent transcriptional activation by nuclear hormone receptors. Mutations at this locus have been associated with primary clear cell renal cell carcinoma. [provided by RefSeq, Feb 2012]
PBRM1 Products (136)
| mRNA | Protein | Name |
|---|---|---|
| NM_001350074.2 | NP_001337003.1 | protein polybromo-1 isoform 5 |
| NM_001350075.2 | NP_001337004.1 | protein polybromo-1 isoform 6 |
| NM_001350076.2 | NP_001337005.1 | protein polybromo-1 isoform 7 |
| NM_001350077.2 | NP_001337006.1 | protein polybromo-1 isoform 8 |
| NM_001350078.2 | NP_001337007.1 | protein polybromo-1 isoform 5 |
| NM_001350079.2 | NP_001337008.1 | protein polybromo-1 isoform 9 |
| NM_001366070.2 | NP_001352999.1 | protein polybromo-1 isoform 5 |
| NM_001366071.2 | NP_001353000.1 | protein polybromo-1 isoform 10 |
| NM_001366072.2 | NP_001353001.1 | protein polybromo-1 isoform 11 |
| NM_001366073.2 | NP_001353002.1 | protein polybromo-1 isoform 12 |
| NM_001366074.2 | NP_001353003.1 | protein polybromo-1 isoform 13 |
| NM_001366075.2 | NP_001353004.1 | protein polybromo-1 isoform 14 |
| NM_001366076.2 | NP_001353005.1 | protein polybromo-1 isoform 15 |
| NM_001394867.1 | NP_001381796.1 | protein polybromo-1 isoform 16 |
| NM_001394868.1 | NP_001381797.1 | protein polybromo-1 isoform 16 |
| NM_001394869.1 | NP_001381798.1 | protein polybromo-1 isoform 16 |
| NM_001394870.1 | NP_001381799.1 | protein polybromo-1 isoform 17 |
| NM_001394871.1 | NP_001381800.1 | protein polybromo-1 isoform 18 |
| NM_001394872.1 | NP_001381801.1 | protein polybromo-1 isoform 6 |
| NM_001394873.1 | NP_001381802.1 | protein polybromo-1 isoform 20 |
| NM_001394874.1 | NP_001381803.1 | protein polybromo-1 isoform 20 |
| NM_001394875.1 | NP_001381804.1 | protein polybromo-1 isoform 4 |
| NM_001394876.1 | NP_001381805.1 | protein polybromo-1 isoform 22 |
| NM_001394877.1 | NP_001381806.1 | protein polybromo-1 isoform 22 |
| NM_001394878.1 | NP_001381807.1 | protein polybromo-1 isoform 23 |
| NM_001394879.1 | NP_001381808.1 | protein polybromo-1 isoform 24 |
| NM_001394880.1 | NP_001381809.1 | protein polybromo-1 isoform 25 |
| NM_001394881.1 | NP_001381810.1 | protein polybromo-1 isoform 26 |
| NM_001400470.1 | NP_001387399.1 | protein polybromo-1 isoform 16 |
| NM_001400471.1 | NP_001387400.1 | protein polybromo-1 isoform 27 |
| NM_001400472.1 | NP_001387401.1 | protein polybromo-1 isoform 28 |
| NM_001400473.1 | NP_001387402.1 | protein polybromo-1 isoform 29 |
| NM_001400474.1 | NP_001387403.1 | protein polybromo-1 isoform 6 |
| NM_001400475.1 | NP_001387404.1 | protein polybromo-1 isoform 6 |
| NM_001400479.1 | NP_001387408.1 | protein polybromo-1 isoform 6 |
| NM_001400481.1 | NP_001387410.1 | protein polybromo-1 isoform 20 |
| NM_001400484.1 | NP_001387413.1 | protein polybromo-1 isoform 21 |
| NM_001400487.1 | NP_001387416.1 | protein polybromo-1 isoform 30 |
| NM_001400490.1 | NP_001387419.1 | protein polybromo-1 isoform 31 |
| NM_001400496.1 | NP_001387425.1 | protein polybromo-1 isoform 4 |
| NM_001400500.1 | NP_001387429.1 | protein polybromo-1 isoform 4 |
| NM_001400501.1 | NP_001387430.1 | protein polybromo-1 isoform 4 |
| NM_001400504.1 | NP_001387433.1 | protein polybromo-1 isoform 31 |
| NM_001405552.1 | NP_001392481.1 | protein polybromo-1 isoform 52 |
| NM_001405553.1 | NP_001392482.1 | protein polybromo-1 isoform 55 |
| NM_001405554.1 | NP_001392483.1 | protein polybromo-1 isoform 53 |
| NM_001405555.1 | NP_001392484.1 | protein polybromo-1 isoform 4 |
| NM_001405556.1 | NP_001392485.1 | protein polybromo-1 isoform 6 |
| NM_001405557.1 | NP_001392486.1 | protein polybromo-1 isoform 6 |
| NM_001405558.1 | NP_001392487.1 | protein polybromo-1 isoform 21 |
| NM_001405559.1 | NP_001392488.1 | protein polybromo-1 isoform 54 |
| NM_001405560.1 | NP_001392489.1 | protein polybromo-1 isoform 71 |
| NM_001405561.1 | NP_001392490.1 | protein polybromo-1 isoform 20 |
| NM_001405563.1 | NP_001392492.1 | protein polybromo-1 isoform 22 |
| NM_001405564.1 | NP_001392493.1 | protein polybromo-1 isoform 64 |
| NM_001405565.1 | NP_001392494.1 | protein polybromo-1 isoform 21 |
| NM_001405566.1 | NP_001392495.1 | protein polybromo-1 isoform 78 |
| NM_001405567.1 | NP_001392496.1 | protein polybromo-1 isoform 51 |
| NM_001405568.1 | NP_001392497.1 | protein polybromo-1 isoform 58 |
| NM_001405569.1 | NP_001392498.1 | protein polybromo-1 isoform 59 |
| NM_001405570.1 | NP_001392499.1 | protein polybromo-1 isoform 50 |
| NM_001405571.1 | NP_001392500.1 | protein polybromo-1 isoform 57 |
| NM_001405572.1 | NP_001392501.1 | protein polybromo-1 isoform 67 |
| NM_001405573.1 | NP_001392502.1 | protein polybromo-1 isoform 68 |
| NM_001405574.1 | NP_001392503.1 | protein polybromo-1 isoform 56 |
| NM_001405575.1 | NP_001392504.1 | protein polybromo-1 isoform 20 |
| NM_001405576.1 | NP_001392505.1 | protein polybromo-1 isoform 70 |
| NM_001405577.1 | NP_001392506.1 | protein polybromo-1 isoform 4 |
| NM_001405578.1 | NP_001392507.1 | protein polybromo-1 isoform 20 |
| NM_001405579.1 | NP_001392508.1 | protein polybromo-1 isoform 29 |
| NM_001405580.1 | NP_001392509.1 | protein polybromo-1 isoform 69 |
| NM_001405581.1 | NP_001392510.1 | protein polybromo-1 isoform 16 |
| NM_001405582.1 | NP_001392511.1 | protein polybromo-1 isoform 30 |
| NM_001405583.1 | NP_001392512.1 | protein polybromo-1 isoform 18 |
| NM_001405584.1 | NP_001392513.1 | protein polybromo-1 isoform 18 |
| NM_001405585.1 | NP_001392514.1 | protein polybromo-1 isoform 20 |
| NM_001405586.1 | NP_001392515.1 | protein polybromo-1 isoform 83 |
| NM_001405587.1 | NP_001392516.1 | protein polybromo-1 isoform 65 |
| NM_001405588.1 | NP_001392517.1 | protein polybromo-1 isoform 54 |
| NM_001405589.1 | NP_001392518.1 | protein polybromo-1 isoform 51 |
| NM_001405590.1 | NP_001392519.1 | protein polybromo-1 isoform 20 |
| NM_001405591.1 | NP_001392520.1 | protein polybromo-1 isoform 61 |
| NM_001405592.1 | NP_001392521.1 | protein polybromo-1 isoform 31 |
| NM_001405593.1 | NP_001392522.1 | protein polybromo-1 isoform 4 |
| NM_001405594.1 | NP_001392523.1 | protein polybromo-1 isoform 16 |
| NM_001405595.1 | NP_001392524.1 | protein polybromo-1 isoform 62 |
| NM_001405596.1 | NP_001392525.1 | protein polybromo-1 isoform 77 |
| NM_001405597.1 | NP_001392526.1 | protein polybromo-1 isoform 63 |
| NM_001405598.1 | NP_001392527.1 | protein polybromo-1 isoform 49 |
| NM_001405599.1 | NP_001392528.1 | protein polybromo-1 isoform 30 |
| NM_001405600.1 | NP_001392529.1 | protein polybromo-1 isoform 17 |
| NM_001405601.1 | NP_001392530.1 | protein polybromo-1 isoform 48 |
| NM_001405602.1 | NP_001392531.1 | protein polybromo-1 isoform 84 |
| NM_001405603.1 | NP_001392532.1 | protein polybromo-1 isoform 16 |
| NM_001405604.1 | NP_001392533.1 | protein polybromo-1 isoform 54 |
| NM_001405605.1 | NP_001392534.1 | protein polybromo-1 isoform 31 |
| NM_001405606.1 | NP_001392535.1 | protein polybromo-1 isoform 30 |
| NM_001405607.1 | NP_001392536.1 | protein polybromo-1 isoform 48 |
| NM_001405608.1 | NP_001392537.1 | protein polybromo-1 isoform 74 |
| NM_001405609.1 | NP_001392538.1 | protein polybromo-1 isoform 66 |
| NM_001405610.1 | NP_001392539.1 | protein polybromo-1 isoform 72 |
| NM_001405611.1 | NP_001392540.1 | protein polybromo-1 isoform 73 |
| NM_001405612.1 | NP_001392541.1 | protein polybromo-1 isoform 76 |
| NM_001405613.1 | NP_001392542.1 | protein polybromo-1 isoform 80 |
| NM_001405614.1 | NP_001392543.1 | protein polybromo-1 isoform 26 |
| NM_001405615.1 | NP_001392544.1 | protein polybromo-1 isoform 26 |
| NM_001405616.1 | NP_001392545.1 | protein polybromo-1 isoform 26 |
| NM_001405617.1 | NP_001392546.1 | protein polybromo-1 isoform 81 |
| NM_001405618.1 | NP_001392547.1 | protein polybromo-1 isoform 81 |
| NM_001405619.1 | NP_001392548.1 | protein polybromo-1 isoform 79 |
| NM_001405620.1 | NP_001392549.1 | protein polybromo-1 isoform 81 |
| NM_001405621.1 | NP_001392550.1 | protein polybromo-1 isoform 79 |
| NM_001405622.1 | NP_001392551.1 | protein polybromo-1 isoform 55 |
| NM_001405623.1 | NP_001392552.1 | protein polybromo-1 isoform 6 |
| NM_001405624.1 | NP_001392553.1 | protein polybromo-1 isoform 22 |
| NM_001405625.1 | NP_001392554.1 | protein polybromo-1 isoform 75 |
| NM_001405626.1 | NP_001392555.1 | protein polybromo-1 isoform 4 |
| NM_001405627.1 | NP_001392556.1 | protein polybromo-1 isoform 4 |
| NM_001405628.1 | NP_001392557.1 | protein polybromo-1 isoform 6 |
| NM_001405629.1 | NP_001392558.1 | protein polybromo-1 isoform 51 |
| NM_001405630.1 | NP_001392559.1 | protein polybromo-1 isoform 6 |
| NM_001405631.1 | NP_001392560.1 | protein polybromo-1 isoform 6 |
| NM_001405632.1 | NP_001392561.1 | protein polybromo-1 isoform 20 |
| NM_001405633.1 | NP_001392562.1 | protein polybromo-1 isoform 21 |
| NM_001405634.1 | NP_001392563.1 | protein polybromo-1 isoform 31 |
| NM_001405635.1 | NP_001392564.1 | protein polybromo-1 isoform 21 |
| NM_001405636.1 | NP_001392565.1 | protein polybromo-1 isoform 64 |
| NM_001405637.1 | NP_001392566.1 | protein polybromo-1 isoform 60 |
| NM_001405638.1 | NP_001392567.1 | protein polybromo-1 isoform 30 |
| NM_001405639.1 | NP_001392568.1 | protein polybromo-1 isoform 82 |
| NM_001405640.1 | NP_001392569.1 | protein polybromo-1 isoform 4 |
| NM_001405641.1 | NP_001392570.1 | protein polybromo-1 isoform 18 |
| NM_001405642.1 | NP_001392571.1 | protein polybromo-1 isoform 71 |
| NM_001405643.1 | NP_001392572.1 | protein polybromo-1 isoform 18 |
| NM_018313.5 | NP_060783.3 | protein polybromo-1 isoform 2 |
| NM_181042.5 | NP_851385.1 | protein polybromo-1 isoform 4 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
11780067 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in negative regulation of cell population proliferation |
IMP
IMP: Inferred from mutant phenotype
|
21248752 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of SWI/SNF complex |
IDA
IDA: Inferred from direct assay
|
8895581 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
25593309 | GOA |
PBRM1 Protein Structure
Bromodomain: Bromodomain (65 - 137)
Bromodomain: Bromodomain (198 - 274)
Bromodomain: Bromodomain (400 - 472)
Bromodomain: Bromodomain (541 - 612)
Bromodomain: Bromodomain (676 - 749)
Bromodomain: Bromodomain (804 - 866)
BAH: BAH domain (989 - 1049)
BAH: BAH domain (1133 - 1247)
HMG_box: HMG (high mobility group) box (1330 - 1379)
- 0
- 300
- 600
- 900
- 1200
- 1500
- 1582 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
protein polybromo-1 |
|
PBRM1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
PBRM1 | Q86U86 | SMARCA4 | Homo sapiens | P51532 | 12368262 | |
|
Intra
|
PBRM1 | Q86U86 | SMARCA4 | Homo sapiens | P51532 | 15985610 | |
|
Intra
|
PBRM1 | Q86U86 | SMARCA4 | Homo sapiens | P51532 | 11780067 | |
|
Intra
|
PBRM1 | Q86U86 | ARID2 | Homo sapiens | Q68CP9 | 15985610 | |
|
Cross
|
PBRM1 | Q86U86 | tat | Human immunodeficiency virus | P04608 | 22140357 |
PBRM1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P81431 | Baf180 Antibody (YA1176) | IHC-P | Human |
| HY-P81431A | Baf180 Antibody (YA1176)(PBS only) | IHC-P | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Renal Cell Carcinoma, Nonpapillary |
|
|
| Clear Cell Papillary Renal Cell Carcinoma |
|
|
| Collecting Duct Carcinoma |
|
|
| Papillary Carcinoma |
|
|
| Chromophobe Renal Cell Carcinoma |
|
|
| Uterine Corpus Endometrial Carcinoma |
|
|
| Cholangiocarcinoma |
|
|
| Deafness, Autosomal Recessive 51 |
|
|
| Chordoma |
|
|
| Sarcomatoid Renal Cell Carcinoma |
|
|
| Trichothiodystrophy 4, Nonphotosensitive |
|
|
| Ovarian Clear Cell Carcinoma |
|
|
| Chromophil Adenoma Of The Kidney |
|
|
| Rhabdoid Cancer |
|
|
| Ovarian Small Cell Carcinoma |
|
|
| Clear Cell Adenofibroma |
|
|
| Clear Cell Meningioma |
|
|
| Renal Pelvis Carcinoma |
|
|
| Hereditary Renal Cell Carcinoma |
|
|
| Spinal Meningioma |
|
|
| Spinal Canal And Spinal Cord Meningioma |
|
|
| Intrahepatic Cholangiocarcinoma |
|
|
| Renal Cell Carcinoma, Papillary, 1 |
|
|
| Neurilemmomatosis |
|
|
| Melanoma, Uveal |
|
|