PBRM1 - polybromo 1 Gene

Also Known as PB1; RCC; BAF180; SMARCH1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55193

About PBRM1

Cytogenetic location: 3p21.1 Genomic coordinates (GRCh38): 3:52,545,367-52,685,913 (from NCBI)

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
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PBRM1 Protein Structure

Bromodomain

Bromodomain: Bromodomain (65 - 137)

Bromodomain

Bromodomain: Bromodomain (198 - 274)

Bromodomain

Bromodomain: Bromodomain (400 - 472)

Bromodomain

Bromodomain: Bromodomain (541 - 612)

Bromodomain

Bromodomain: Bromodomain (676 - 749)

Bromodomain

Bromodomain: Bromodomain (804 - 866)

BAH

BAH: BAH domain (989 - 1049)

BAH

BAH: BAH domain (1133 - 1247)

HMG_box

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

  • BRG1-associated factor 180

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
Cross: Cross-species interaction Intra: Intraspecies interaction

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
  • Renal Cell Carcinoma

  • RCC

  • Nonpapillary Renal Cell Carcinoma

  • Clear Cell Renal Cell Carcinoma

  • Hypernephroma

  • Adenocarcinoma Of Kidney

  • Renal Carcinoma, Chromophobe, Somatic

  • Clear Cell Carcinoma Of Kidney

  • Clear-Cell Metastatic Renal Cell Carcinoma

  • Clear Cell Renal Carcinoma

  • Renal Cell Carcinoma, Somatic

  • Conventional Renal Cell Carcinoma

  • Conventional Renal Cell Carcinoma

  • Renal Clear Cell Carcinoma

  • Ccrcc

  • Hereditary Clear Cell Renal Cell Carcinoma

  • Carcinoma, Renal Cell

  • Renal Cell Carcinoma, Clear Cell, Somatic

  • Renal Cell Carcinoma, Clear Cell

  • Clear Cell Kidney Carcinoma

  • Clear Cell Rcc

  • Cystic-Multilocular Variant

  • Clear Cell Renal Cell Adenocarcinoma

  • Hereditary Clear Cell Renal Cell Adenocarcinoma

  • Common Renal Cell Carcinoma

  • Crcc

  • Renal Cell Carcinoma Non-Papillary

  • Carcinoma Renal Cell

  • Renal Cell Cancer

  • Carcinoma, Renal Cell, Nonpapillary

Clear Cell Papillary Renal Cell Carcinoma
Collecting Duct Carcinoma
  • Kidney Medullary Carcinoma

  • Renal Medullary Carcinoma

  • Bdc

  • Bellini Carcinoma

  • Bellini Duct Carcinoma

  • Cdc

  • Collecting Duct Carcinoma Of The Kidney

  • Renal Cell Adenocarcinoma

  • Carcinoma Of Renal Collecting Duct

  • Renal Carcinoma, Collecting Duct Type

  • Renal Cell Carcinoma

  • Bellini'S Duct Carcinoma

  • Renal Collecting Duct Carcinoma

  • Adenocarcinoma Of Kidney

Papillary Carcinoma
  • Carcinoma, Papillary

  • Carcinoma Papillary

Chromophobe Renal Cell Carcinoma
  • Chromophobe Adenocarcinoma

  • Chromophobe Carcinoma Of Kidney

  • Kidney Chromophobe

  • Renal Cell Carcinoma, Chromophobe Cell

  • Crcc

  • Chrcc

  • Chromophobe Renal Cell Adenocarcinoma

  • Chromophobe Renal Carcinoma

  • Chromophobe Carcinoma

Uterine Corpus Endometrial Carcinoma
Cholangiocarcinoma
  • Cholangiocarcinoma, Susceptibility To

  • Extrahepatic Cholangiocarcinoma

  • Intrahepatic Cholangiocarcinoma

  • Chlc

  • Chlc, Susceptibility To

  • Cc

  • Cholangiocarcinoma Of Biliary Tract

  • Cholangiocellular Carcinoma

  • Distal Cholangiocarcinoma

  • Perihilar Cholangiocarcinoma

  • Bile Duct Cancer

  • Cca

  • Adult Primary Cholangiocellular Carcinoma

  • Bile Duct Carcinoma

Deafness, Autosomal Recessive 51
  • DFNB51

  • Autosomal Recessive Nonsyndromic Deafness 51

  • Autosomal Recessive Deafness 51

Chordoma
  • CHDM

  • Notochordoma

  • Notochordal Sarcoma

  • Chordoma, Susceptibility To

  • Chordocarcinoma

  • Chordoepithelioma

Sarcomatoid Renal Cell Carcinoma
  • Renal Cell Carcinoma, Spindle Cell

Trichothiodystrophy 4, Nonphotosensitive
  • Amish Brittle Hair Brain Syndrome

  • TTD4

  • Trichothiodystrophy, Nonphotosensitive 1

  • Hair-Brain Syndrome

  • Bids Syndrome

  • Ttdn1

  • Abhs

  • Pollitt Syndrome

  • Trichothiodystrophy-Neurocutaneous Syndrome

  • Nonphotosensitive Trichothiodystrophy 4

  • Trichorrhexis Nodosa Syndrome

  • Trichothiodystrophy 4, Non-Photosensitive

  • Trichothiodystrophy Non-Photosensitive 1

Ovarian Clear Cell Carcinoma
  • Clear-Cell Ovarian Carcinoma

Chromophil Adenoma Of The Kidney
  • Papillary Adenoma Of The Kidney

Rhabdoid Cancer
  • Rhabdoid Tumor

  • Malignant Rhabdoid Tumor

  • Malignant Rhabdoid Tumour

  • Rhabdoid Sarcoma

  • Rhabdoid Tumor Predisposition Syndrome 1

  • Rhabdoid Tumor Predisposition Syndrome 2

  • Atypical Teratoid Rhabdoid Tumor

  • Brain Tumor, Posterior Fossa, Of Infancy, Familial

  • Atypical Teratoid/Rhabdoid Tumor

Ovarian Small Cell Carcinoma
  • Small Cell Carcinoma Of The Ovary

  • Scco

  • Small Cell Ovarian Carcinoma

Clear Cell Adenofibroma
  • Cystadenofibroma

Clear Cell Meningioma
Renal Pelvis Carcinoma
  • Malignant Neoplasm Of Renal Pelvis

  • Malignant Tumor Of Renal Pelvis

  • Carcinoma Of Kidney Pelvis

  • Malignant Renal Pelvis Neoplasm

  • Renal Pelvis Cancer

Hereditary Renal Cell Carcinoma
Spinal Meningioma
  • Spinal Cord Meningioma

  • Meningioma, Spine

  • Meningioma

  • Meningioma, Benign, No Icd-O Subtype

Spinal Canal And Spinal Cord Meningioma
Intrahepatic Cholangiocarcinoma
  • Cholangiocarcinoma

  • Intrahepatic Bile Duct Carcinoma

  • Peripheral Cholangiocarcinoma

  • Peripheral Intrahepatic Cholangiocarcinoma

  • Adenocarcinoma Of Intra-Hepatic Bile Ducts

  • Cholangiocarcinoma, Unspecified Site

  • Cholangiocarcinoma Of Liver

Renal Cell Carcinoma, Papillary, 1
  • Papillary Renal Cell Carcinoma

  • Hereditary Papillary Renal Cell Carcinoma

  • Papillary Renal Cell Carcinoma, Sporadic

  • Papillary Renal Cell Adenocarcinoma

  • RCCP

  • RCCP1

  • Renal Cell Carcinoma, Papillary

  • Renal Cell Carcinoma, Papillary, 1, Familial And Somatic

  • Chromophil Carcinoma Of Kidney

  • Papillary Kidney Carcinoma

  • Sporadic Papillary Renal Cell Carcinoma

  • Chromophil Renal Cell Carcinoma

  • Papillary Renal Carcinoma, Malignant -

  • Papillary Renal Cell Carcinoma, Bilateral -

  • Papillary Renal Cell Carcinoma, Familial -

  • Papillary Renal Cell Carcinoma, Multiple -

  • Papillary Renal Cell Carcinoma, Sporadic -

  • Renal Adenocarcinoma

  • Chromophil Rcc

  • Hprcc

  • Renal Cell Carcinoma Papillary

  • Chromophilic Renal Cell Carcinoma

  • Prcc

  • Carcinoma, Renal Cell, Papillary, Type 1

  • Type 1 Papillary Renal Cell Carcinoma

  • Renal Cell Carcinoma

  • Hereditary Papillary Renal Carcinoma

Neurilemmomatosis
  • Schwannomatosis

  • Neurofibromatosis Type 3

  • Nf3

  • Neurilemmomatosis Congenital Cutaneous

  • Neurinomatosis

  • Congenital Cutaneous Neurilemmomatosis

  • Multiple Neurilemmomas

  • Multiple Schwannomas

  • Neurilemmomatosis, Congenital Cutaneous

  • Schwannomatosis 1

  • Neurofibromatosis 3

  • Mixed Central And Peripheral Neurofibromatosis

  • Nf3 - [Neurofibromatosis Type 3]

Melanoma, Uveal
  • Uveal Melanoma

  • Choroidal Melanoma

  • Melanoma Of Uvea

  • Iris Melanoma

  • Malignant Melanoma Of Choroid

  • Malignant Melanoma Of Iris

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma