PBRM1

Protein identityUniProt · HPA

UniProt accession

Q86U86

Gene

PBRM1

Ensembl

ENSG00000163939

Chromosome

3

Canonical length

1689 aa

Protein class

Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

1689 residues, UniProt reviewed canonical sequence.

>Q86U86|PBRM1
     1  MGSKRRRATS PSSSVSGDFD DGHHSVSTPG PSRKRRRLSN LPTVDPIAVC HELYNTIRDY
    61  KDEQGRLLCE LFIRAPKRRN QPDYYEVVSQ PIDLMKIQQK LKMEEYDDVN LLTADFQLLF
   121  NNAKSYYKPD SPEYKAACKL WDLYLRTRNE FVQKGEADDE DDDEDGQDNQ GTVTEGSSPA
   181  YLKEILEQLL EAIVVATNPS GRLISELFQK LPSKVQYPDY YAIIKEPIDL KTIAQRIQNG
   241  SYKSIHAMAK DIDLLAKNAK TYNEPGSQVF KDANSIKKIF YMKKAEIEHH EMAKSSLRMR
   301  TPSNLAAARL TGPSHSKGSL GEERNPTSKY YRNKRAVQGG RLSAITMALQ YGSESEEDAA
   361  LAAARYEEGE SEAESITSFM DVSNPFYQLY DTVRSCRNNQ GQLIAEPFYH LPSKKKYPDY
   421  YQQIKMPISL QQIRTKLKNQ EYETLDHLEC DLNLMFENAK RYNVPNSAIY KRVLKLQQVM
   481  QAKKKELARR DDIEDGDSMI SSATSDTGSA KRKSKKNIRK QRMKILFNVV LEAREPGSGR
   541  RLCDLFMVKP SKKDYPDYYK IILEPMDLKI IEHNIRNDKY AGEEGMIEDM KLMFRNARHY
   601  NEEGSQVYND AHILEKLLKE KRKELGPLPD DDDMASPKLK LSRKSGISPK KSKYMTPMQQ
   661  KLNEVYEAVK NYTDKRGRRL SAIFLRLPSR SELPDYYLTI KKPMDMEKIR SHMMANKYQD
   721  IDSMVEDFVM MFNNACTYNE PESLIYKDAL VLHKVLLETR RDLEGDEDSH VPNVTLLIQE
   781  LIHNLFVSVM SHQDDEGRCY SDSLAEIPAV DPNFPNKPPL TFDIIRKNVE NNRYRRLDLF
   841  QEHMFEVLER ARRMNRTDSE IYEDAVELQQ FFIKIRDELC KNGEILLSPA LSYTTKHLHN
   901  DVEKERKEKL PKEIEEDKLK REEEKREAEK SEDSSGAAGL SGLHRTYSQD CSFKNSMYHV
   961  GDYVYVEPAE ANLQPHIVCI ERLWEDSAGE KWLYGCWFYR PNETFHLATR KFLEKEVFKS
  1021  DYYNKVPVSK ILGKCVVMFV KEYFKLCPEN FRDEDVFVCE SRYSAKTKSF KKIKLWTMPI
  1081  SSVRFVPRDV PLPVVRVASV FANADKGDDE KNTDNSEDSR AEDNFNLEKE KEDVPVEMSN
  1141  GEPGCHYFEQ LHYNDMWLKV GDCVFIKSHG LVRPRVGRIE KVWVRDGAAY FYGPIFIHPE
  1201  ETEHEPTKMF YKKEVFLSNL EETCPMTCIL GKCAVLSFKD FLSCRPTEIP ENDILLCESR
  1261  YNESDKQMKK FKGLKRFSLS AKVVDDEIYY FRKPIVPQKE PSPLLEKKIQ LLEAKFAELE
  1321  GGDDDIEEMG EEDSEVIEPP SLPQLQTPLA SELDLMPYTP PQSTPKSAKG SAKKEGSKRK
  1381  INMSGYILFS SEMRAVIKAQ HPDYSFGELS RLVGTEWRNL ETAKKAEYEE RAAKVAEQQE
  1441  RERAAQQQQP SASPRAGTPV GALMGVVPPP TPMGMLNQQL TPVAGMMGGY PPGLPPLQGP
  1501  VDGLVSMGSM QPLHPGGPPP HHLPPGVPGL PGIPPPGVMN QGVAPMVGTP APGGSPYGQQ
  1561  VGVLGPPGQQ APPPYPGPHP AGPPVIQQPT TPMFVAPPPK TQRLLHSEAY LKYIEGLSAE
  1621  SNSISKWDQT LAARRRDVHL SKEQESRLPS HWLKSKGAHT TMADALWRLR DLMLRDTLNI
  1681  RQAYNLENV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PBRM1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.41

Highest tissue expression

35 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PBRM1.

Disease | AllUniProt

Conditions PBRM1 is implicated in, by any mechanism.

• Renal cell carcinoma (RCC) MIM:144700

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 146 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Clear cell carcinoma of kidney

Disease | ImmuneIEDB

Conditions an epitope on PBRM1 was assayed in.

• glioblastoma T cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.13

gnomAD pLI

1

gnomAD missense Z

3.84

DepMap mean gene effect

-0.2

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• chromatin remodeling
• mitotic cell cycle
• negative regulation of cell population proliferation
• positive regulation of cell differentiation
• positive regulation of double-strand break repair
• positive regulation of myoblast differentiation
• positive regulation of T cell differentiation
• regulation of G0 to G1 transition
• regulation of G1/S transition of mitotic cell cycle
• regulation of mitotic metaphase/anaphase transition
• regulation of nucleotide-excision repair
• regulation of transcription by RNA polymerase II
• transcription elongation by RNA polymerase II

Molecular functions

• chromatin binding
• DNA binding

Cellular components

• chromatin
• kinetochore
• nuclear chromosome
• nuclear matrix
• nucleoplasm
• nucleus
• RSC-type complex
• SWI/SNF complex

Protein domainsUniProt · Pfam · InterPro

• Bromo adjacent homology (BAH) domain
• Bromodomain
• High mobility group box domain
• Bromodomain, conserved site
• Bromodomain-like superfamily
• High mobility group box domain superfamily
• Bromo adjacent homology (BAH) domain superfamily
• Bromodomain
• HMG (high mobility group) box
• BAH domain
• Remodelling complex subunit Rsc/polybromo
• Protein polybromo-1, Bromodomain 5

KeywordsUniProt

• Acetylation
• Bromodomain
• Chromatin regulator
• DNA-binding
• Isopeptide bond
• Nucleus
• Phosphoprotein
• Repeat
• Transcription
• Transcription regulation
• Tumor suppressor
• Ubl conjugation

InteractionsUniProt · HPA

Protein binding partners of PBRM1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ARID2
• SMARCA4