Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	55193
Gene name	Polybromo 1
Gene symbol	PBRM1
Synonyms (NCBI Gene)	BAF180PB1RCCSMARCH1
Chromosome	3
Chromosome location	3p21.1
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 a

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SNP ID	Visualize variation	Clinical significance	Consequence
rs864321679	CACTATCT>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant

300

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miRTarBase ID	miRNA	Experiments	Reference
MIRT005153	hsa-miR-30a-5p	pSILAC	18668040
MIRT020793	hsa-miR-155-5p	Proteomics	18668040
MIRT020793	hsa-miR-155-5p	Reporter assay;Other	20584899
MIRT028017	hsa-miR-93-5p	Sequencing	20371350
MIRT005153	hsa-miR-30a-5p	Proteomics;Other	18668040
MIRT030867	hsa-miR-21-5p	Microarray	18591254
MIRT036962	hsa-miR-877-3p	CLASH	23622248
MIRT036515	hsa-miR-1226-3p	CLASH	23622248
MIRT036263	hsa-miR-1229-3p	CLASH	23622248
MIRT547193	hsa-miR-30c-5p	PAR-CLIP	21572407
MIRT005153	hsa-miR-30a-5p	PAR-CLIP	21572407
MIRT547192	hsa-miR-30b-5p	PAR-CLIP	21572407
MIRT547191	hsa-miR-30d-5p	PAR-CLIP	21572407
MIRT547190	hsa-miR-30e-5p	PAR-CLIP	21572407
MIRT547189	hsa-miR-7844-5p	PAR-CLIP	21572407
MIRT547188	hsa-miR-3129-3p	PAR-CLIP	21572407
MIRT547187	hsa-miR-5583-5p	PAR-CLIP	21572407
MIRT547186	hsa-miR-4528	PAR-CLIP	21572407
MIRT547185	hsa-miR-3607-3p	PAR-CLIP	21572407
MIRT547184	hsa-miR-3686	PAR-CLIP	21572407
MIRT727004	hsa-miR-181a-5p	HITS-CLIP	22473208
MIRT727003	hsa-miR-181b-5p	HITS-CLIP	22473208
MIRT727001	hsa-miR-181c-5p	HITS-CLIP	22473208
MIRT727002	hsa-miR-181d-5p	HITS-CLIP	22473208
MIRT547193	hsa-miR-30c-5p	PAR-CLIP	21572407
MIRT005153	hsa-miR-30a-5p	PAR-CLIP	21572407
MIRT547192	hsa-miR-30b-5p	PAR-CLIP	21572407
MIRT547191	hsa-miR-30d-5p	PAR-CLIP	21572407
MIRT547190	hsa-miR-30e-5p	PAR-CLIP	21572407
MIRT547189	hsa-miR-7844-5p	PAR-CLIP	21572407
MIRT547188	hsa-miR-3129-3p	PAR-CLIP	21572407
MIRT547187	hsa-miR-5583-5p	PAR-CLIP	21572407
MIRT547186	hsa-miR-4528	PAR-CLIP	21572407
MIRT547185	hsa-miR-3607-3p	PAR-CLIP	21572407
MIRT547184	hsa-miR-3686	PAR-CLIP	21572407
MIRT1215697	hsa-miR-204	CLIP-seq
MIRT1215698	hsa-miR-211	CLIP-seq
MIRT1215699	hsa-miR-3145-5p	CLIP-seq
MIRT1215700	hsa-miR-340	CLIP-seq
MIRT1215701	hsa-miR-3618	CLIP-seq
MIRT1215702	hsa-miR-3691-3p	CLIP-seq
MIRT1215703	hsa-miR-3938	CLIP-seq
MIRT1215704	hsa-miR-4330	CLIP-seq
MIRT1215705	hsa-miR-4477a	CLIP-seq
MIRT1215706	hsa-miR-4755-5p	CLIP-seq
MIRT1215707	hsa-miR-4764-3p	CLIP-seq
MIRT1215708	hsa-miR-548a-3p	CLIP-seq
MIRT1215709	hsa-miR-548e	CLIP-seq
MIRT1215710	hsa-miR-548f	CLIP-seq
MIRT1215711	hsa-miR-577	CLIP-seq
MIRT1215712	hsa-miR-618	CLIP-seq
MIRT1215713	hsa-miR-623	CLIP-seq
MIRT1215714	hsa-miR-1324	CLIP-seq
MIRT1215715	hsa-miR-198	CLIP-seq
MIRT1215716	hsa-miR-22	CLIP-seq
MIRT1215717	hsa-miR-3158-5p	CLIP-seq
MIRT1215718	hsa-miR-3166	CLIP-seq
MIRT1215719	hsa-miR-323-3p	CLIP-seq
MIRT1215720	hsa-miR-3679-3p	CLIP-seq
MIRT1215721	hsa-miR-3920	CLIP-seq
MIRT1215722	hsa-miR-4446-5p	CLIP-seq
MIRT1215723	hsa-miR-4459	CLIP-seq
MIRT1215724	hsa-miR-4667-3p	CLIP-seq
MIRT1215725	hsa-miR-4771	CLIP-seq
MIRT1215726	hsa-miR-665	CLIP-seq
MIRT1215727	hsa-miR-1197	CLIP-seq
MIRT1215728	hsa-miR-1273g	CLIP-seq
MIRT1215729	hsa-miR-140-5p	CLIP-seq
MIRT1215730	hsa-miR-142-5p	CLIP-seq
MIRT1215731	hsa-miR-1825	CLIP-seq
MIRT1215732	hsa-miR-199a-5p	CLIP-seq
MIRT1215733	hsa-miR-199b-5p	CLIP-seq
MIRT1215734	hsa-miR-23a	CLIP-seq
MIRT1215735	hsa-miR-23b	CLIP-seq
MIRT1215736	hsa-miR-23c	CLIP-seq
MIRT1215737	hsa-miR-30a	CLIP-seq
MIRT1215738	hsa-miR-30b	CLIP-seq
MIRT1215739	hsa-miR-30c	CLIP-seq
MIRT1215740	hsa-miR-30d	CLIP-seq
MIRT1215741	hsa-miR-30e	CLIP-seq
MIRT1215742	hsa-miR-3121-3p	CLIP-seq
MIRT1215743	hsa-miR-3135	CLIP-seq
MIRT1215744	hsa-miR-3161	CLIP-seq
MIRT1215745	hsa-miR-3183	CLIP-seq
MIRT1215746	hsa-miR-34b	CLIP-seq
MIRT1215747	hsa-miR-362-5p	CLIP-seq
MIRT1215748	hsa-miR-410	CLIP-seq
MIRT1215749	hsa-miR-4277	CLIP-seq
MIRT1215750	hsa-miR-4420	CLIP-seq
MIRT1215751	hsa-miR-4426	CLIP-seq
MIRT1215752	hsa-miR-4484	CLIP-seq
MIRT1215753	hsa-miR-4495	CLIP-seq
MIRT1215754	hsa-miR-4509	CLIP-seq
MIRT1215755	hsa-miR-4647	CLIP-seq
MIRT1215756	hsa-miR-4662b	CLIP-seq
MIRT1215757	hsa-miR-4698	CLIP-seq
MIRT1215758	hsa-miR-4699-5p	CLIP-seq
MIRT1215759	hsa-miR-4709-3p	CLIP-seq
MIRT1215760	hsa-miR-4723-3p	CLIP-seq
MIRT1215761	hsa-miR-4762-5p	CLIP-seq
MIRT1215762	hsa-miR-500b	CLIP-seq
MIRT1215763	hsa-miR-501-5p	CLIP-seq
MIRT1215764	hsa-miR-548aa	CLIP-seq
MIRT1215765	hsa-miR-548an	CLIP-seq
MIRT1215766	hsa-miR-548c-3p	CLIP-seq
MIRT1215767	hsa-miR-563	CLIP-seq
MIRT1215711	hsa-miR-577	CLIP-seq
MIRT1215768	hsa-miR-599	CLIP-seq
MIRT1215769	hsa-miR-889	CLIP-seq
MIRT1215766	hsa-miR-548c-3p	CLIP-seq
MIRT2062085	hsa-miR-101	CLIP-seq
MIRT1215728	hsa-miR-1273g	CLIP-seq
MIRT2062086	hsa-miR-1287	CLIP-seq
MIRT1215729	hsa-miR-140-5p	CLIP-seq
MIRT2062087	hsa-miR-142-3p	CLIP-seq
MIRT1215730	hsa-miR-142-5p	CLIP-seq
MIRT2062088	hsa-miR-144	CLIP-seq
MIRT1215731	hsa-miR-1825	CLIP-seq
MIRT1215732	hsa-miR-199a-5p	CLIP-seq
MIRT1215733	hsa-miR-199b-5p	CLIP-seq
MIRT2062089	hsa-miR-203	CLIP-seq
MIRT2062090	hsa-miR-21	CLIP-seq
MIRT2062091	hsa-miR-217	CLIP-seq
MIRT2062092	hsa-miR-2909	CLIP-seq
MIRT2062093	hsa-miR-3064-5p	CLIP-seq
MIRT2062094	hsa-miR-3065-3p	CLIP-seq
MIRT2062095	hsa-miR-3137	CLIP-seq
MIRT1215744	hsa-miR-3161	CLIP-seq
MIRT2062096	hsa-miR-3162-5p	CLIP-seq
MIRT2062097	hsa-miR-3163	CLIP-seq
MIRT2062098	hsa-miR-3171	CLIP-seq
MIRT2062099	hsa-miR-3174	CLIP-seq
MIRT1215719	hsa-miR-323-3p	CLIP-seq
MIRT2062100	hsa-miR-331-3p	CLIP-seq
MIRT2062101	hsa-miR-361-3p	CLIP-seq
MIRT2062102	hsa-miR-3652	CLIP-seq
MIRT2062103	hsa-miR-3662	CLIP-seq
MIRT2062104	hsa-miR-3671	CLIP-seq
MIRT1215720	hsa-miR-3679-3p	CLIP-seq
MIRT2062105	hsa-miR-3921	CLIP-seq
MIRT1215748	hsa-miR-410	CLIP-seq
MIRT2062106	hsa-miR-4263	CLIP-seq
MIRT2062107	hsa-miR-4269	CLIP-seq
MIRT2062108	hsa-miR-4307	CLIP-seq
MIRT2062109	hsa-miR-4418	CLIP-seq
MIRT2062110	hsa-miR-4424	CLIP-seq
MIRT2062111	hsa-miR-4430	CLIP-seq
MIRT1215705	hsa-miR-4477a	CLIP-seq
MIRT2062112	hsa-miR-4505	CLIP-seq
MIRT2062113	hsa-miR-4514	CLIP-seq
MIRT2062114	hsa-miR-4653-5p	CLIP-seq
MIRT2062115	hsa-miR-4682	CLIP-seq
MIRT2062116	hsa-miR-4692	CLIP-seq
MIRT2062117	hsa-miR-4731-3p	CLIP-seq
MIRT2062118	hsa-miR-4742-5p	CLIP-seq
MIRT1215761	hsa-miR-4762-5p	CLIP-seq
MIRT2062119	hsa-miR-4795-3p	CLIP-seq
MIRT2062120	hsa-miR-4801	CLIP-seq
MIRT2062121	hsa-miR-494	CLIP-seq
MIRT2062122	hsa-miR-495	CLIP-seq
MIRT2062123	hsa-miR-509-3-5p	CLIP-seq
MIRT2062124	hsa-miR-509-5p	CLIP-seq
MIRT2062125	hsa-miR-512-5p	CLIP-seq
MIRT1215708	hsa-miR-548a-3p	CLIP-seq
MIRT1215709	hsa-miR-548e	CLIP-seq
MIRT1215710	hsa-miR-548f	CLIP-seq
MIRT2062126	hsa-miR-548t	CLIP-seq
MIRT1215767	hsa-miR-563	CLIP-seq
MIRT2062127	hsa-miR-570	CLIP-seq
MIRT2062128	hsa-miR-576-5p	CLIP-seq
MIRT2062129	hsa-miR-590-5p	CLIP-seq
MIRT2062130	hsa-miR-603	CLIP-seq
MIRT2062131	hsa-miR-607	CLIP-seq
MIRT2062132	hsa-miR-633	CLIP-seq
MIRT2062133	hsa-miR-642b	CLIP-seq
MIRT2062134	hsa-miR-656	CLIP-seq
MIRT2062135	hsa-miR-671-5p	CLIP-seq
MIRT1215769	hsa-miR-889	CLIP-seq
MIRT2062136	hsa-miR-921	CLIP-seq
MIRT2062085	hsa-miR-101	CLIP-seq
MIRT1215727	hsa-miR-1197	CLIP-seq
MIRT1215728	hsa-miR-1273g	CLIP-seq
MIRT2062086	hsa-miR-1287	CLIP-seq
MIRT2290588	hsa-miR-1290	CLIP-seq
MIRT1215714	hsa-miR-1324	CLIP-seq
MIRT1215729	hsa-miR-140-5p	CLIP-seq
MIRT2062087	hsa-miR-142-3p	CLIP-seq
MIRT2062088	hsa-miR-144	CLIP-seq
MIRT1215731	hsa-miR-1825	CLIP-seq
MIRT1215732	hsa-miR-199a-5p	CLIP-seq
MIRT1215733	hsa-miR-199b-5p	CLIP-seq
MIRT2062089	hsa-miR-203	CLIP-seq
MIRT2062090	hsa-miR-21	CLIP-seq
MIRT2290589	hsa-miR-2110	CLIP-seq
MIRT1215716	hsa-miR-22	CLIP-seq
MIRT2290590	hsa-miR-2278	CLIP-seq
MIRT1215734	hsa-miR-23a	CLIP-seq
MIRT1215735	hsa-miR-23b	CLIP-seq
MIRT1215736	hsa-miR-23c	CLIP-seq
MIRT2062092	hsa-miR-2909	CLIP-seq
MIRT2290591	hsa-miR-29a	CLIP-seq
MIRT2290592	hsa-miR-29b	CLIP-seq
MIRT2290593	hsa-miR-29c	CLIP-seq
MIRT2290594	hsa-miR-300	CLIP-seq
MIRT2062093	hsa-miR-3064-5p	CLIP-seq
MIRT2062094	hsa-miR-3065-3p	CLIP-seq
MIRT1215737	hsa-miR-30a	CLIP-seq
MIRT1215738	hsa-miR-30b	CLIP-seq
MIRT1215739	hsa-miR-30c	CLIP-seq
MIRT1215740	hsa-miR-30d	CLIP-seq
MIRT1215741	hsa-miR-30e	CLIP-seq
MIRT2062095	hsa-miR-3137	CLIP-seq
MIRT1215699	hsa-miR-3145-5p	CLIP-seq
MIRT2290595	hsa-miR-3150a-3p	CLIP-seq
MIRT1215717	hsa-miR-3158-5p	CLIP-seq
MIRT2062096	hsa-miR-3162-5p	CLIP-seq
MIRT1215718	hsa-miR-3166	CLIP-seq
MIRT2062099	hsa-miR-3174	CLIP-seq
MIRT1215745	hsa-miR-3183	CLIP-seq
MIRT2062100	hsa-miR-331-3p	CLIP-seq
MIRT2290596	hsa-miR-337-3p	CLIP-seq
MIRT1215746	hsa-miR-34b	CLIP-seq
MIRT1215701	hsa-miR-3618	CLIP-seq
MIRT2062102	hsa-miR-3652	CLIP-seq
MIRT2062103	hsa-miR-3662	CLIP-seq
MIRT2062104	hsa-miR-3671	CLIP-seq
MIRT1215702	hsa-miR-3691-3p	CLIP-seq
MIRT2290597	hsa-miR-381	CLIP-seq
MIRT1215721	hsa-miR-3920	CLIP-seq
MIRT2062105	hsa-miR-3921	CLIP-seq
MIRT2290598	hsa-miR-4260	CLIP-seq
MIRT1215749	hsa-miR-4277	CLIP-seq
MIRT1215704	hsa-miR-4330	CLIP-seq
MIRT2062110	hsa-miR-4424	CLIP-seq
MIRT1215751	hsa-miR-4426	CLIP-seq
MIRT2062111	hsa-miR-4430	CLIP-seq
MIRT2290599	hsa-miR-4450	CLIP-seq
MIRT1215705	hsa-miR-4477a	CLIP-seq
MIRT1215752	hsa-miR-4484	CLIP-seq
MIRT1215753	hsa-miR-4495	CLIP-seq
MIRT2062112	hsa-miR-4505	CLIP-seq
MIRT1215754	hsa-miR-4509	CLIP-seq
MIRT2290600	hsa-miR-450b-5p	CLIP-seq
MIRT1215755	hsa-miR-4647	CLIP-seq
MIRT2290601	hsa-miR-4652-3p	CLIP-seq
MIRT2062114	hsa-miR-4653-5p	CLIP-seq
MIRT2290602	hsa-miR-4659a-3p	CLIP-seq
MIRT2290603	hsa-miR-4659b-3p	CLIP-seq
MIRT1215756	hsa-miR-4662b	CLIP-seq
MIRT2290604	hsa-miR-4666-3p	CLIP-seq
MIRT2062115	hsa-miR-4682	CLIP-seq
MIRT1215760	hsa-miR-4723-3p	CLIP-seq
MIRT2062117	hsa-miR-4731-3p	CLIP-seq
MIRT2290605	hsa-miR-4749-3p	CLIP-seq
MIRT1215761	hsa-miR-4762-5p	CLIP-seq
MIRT1215725	hsa-miR-4771	CLIP-seq
MIRT2290606	hsa-miR-4793-3p	CLIP-seq
MIRT2062120	hsa-miR-4801	CLIP-seq
MIRT2062121	hsa-miR-494	CLIP-seq
MIRT2062125	hsa-miR-512-5p	CLIP-seq
MIRT2290607	hsa-miR-513b	CLIP-seq
MIRT2290608	hsa-miR-515-5p	CLIP-seq
MIRT1215708	hsa-miR-548a-3p	CLIP-seq
MIRT1215765	hsa-miR-548an	CLIP-seq
MIRT1215766	hsa-miR-548c-3p	CLIP-seq
MIRT1215709	hsa-miR-548e	CLIP-seq
MIRT1215710	hsa-miR-548f	CLIP-seq
MIRT1215767	hsa-miR-563	CLIP-seq
MIRT1215711	hsa-miR-577	CLIP-seq
MIRT2062129	hsa-miR-590-5p	CLIP-seq
MIRT2062130	hsa-miR-603	CLIP-seq
MIRT2062131	hsa-miR-607	CLIP-seq
MIRT2062132	hsa-miR-633	CLIP-seq
MIRT2062133	hsa-miR-642b	CLIP-seq
MIRT2062135	hsa-miR-671-5p	CLIP-seq
MIRT2290609	hsa-miR-873	CLIP-seq
MIRT2062136	hsa-miR-921	CLIP-seq
MIRT2290610	hsa-miR-942	CLIP-seq
MIRT2062091	hsa-miR-217	CLIP-seq
MIRT2062092	hsa-miR-2909	CLIP-seq
MIRT2062093	hsa-miR-3064-5p	CLIP-seq
MIRT2062094	hsa-miR-3065-3p	CLIP-seq
MIRT2062096	hsa-miR-3162-5p	CLIP-seq
MIRT2062100	hsa-miR-331-3p	CLIP-seq
MIRT2062102	hsa-miR-3652	CLIP-seq
MIRT2062109	hsa-miR-4418	CLIP-seq
MIRT1215750	hsa-miR-4420	CLIP-seq
MIRT2062111	hsa-miR-4430	CLIP-seq
MIRT2062112	hsa-miR-4505	CLIP-seq
MIRT2290606	hsa-miR-4793-3p	CLIP-seq
MIRT2062123	hsa-miR-509-3-5p	CLIP-seq
MIRT2062124	hsa-miR-509-5p	CLIP-seq
MIRT2062125	hsa-miR-512-5p	CLIP-seq
MIRT2062126	hsa-miR-548t	CLIP-seq
MIRT2062130	hsa-miR-603	CLIP-seq
MIRT2062133	hsa-miR-642b	CLIP-seq
MIRT2062135	hsa-miR-671-5p	CLIP-seq
MIRT1215730	hsa-miR-142-5p	CLIP-seq
MIRT2062130	hsa-miR-603	CLIP-seq
MIRT2062133	hsa-miR-642b	CLIP-seq

Show/Hide all (35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000228	Component	Nuclear chromosome	NAS	11078522
GO:0000278	Process	Mitotic cell cycle	TAS	11078522
GO:0000776	Component	Kinetochore	NAS	11078522
GO:0000785	Component	Chromatin	NAS	12192000
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IBA
GO:0003682	Function	Chromatin binding	IEA
GO:0003682	Function	Chromatin binding	NAS	11078522
GO:0005515	Function	Protein binding	IPI	11780067, 12368262, 15985610, 20130577, 22140357, 27142060, 35271311
GO:0005634	Component	Nucleus	IDA	25593309
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006338	Process	Chromatin remodeling	IBA
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006338	Process	Chromatin remodeling	NAS	10078207
GO:0006338	Process	Chromatin remodeling	TAS	11078522
GO:0006357	Process	Regulation of transcription by RNA polymerase II	NAS	18809673
GO:0006368	Process	Transcription elongation by RNA polymerase II	IBA
GO:0008285	Process	Negative regulation of cell population proliferation	IMP	21248752
GO:0016363	Component	Nuclear matrix	NAS	9128241
GO:0016514	Component	SWI/SNF complex	IBA
GO:0016514	Component	SWI/SNF complex	IDA	8895581
GO:0016586	Component	RSC-type complex	IBA
GO:0016586	Component	RSC-type complex	IEA
GO:0016586	Component	RSC-type complex	NAS	8804307
GO:0030071	Process	Regulation of mitotic metaphase/anaphase transition	NAS	25066234
GO:0045582	Process	Positive regulation of T cell differentiation	NAS	12110891
GO:0045597	Process	Positive regulation of cell differentiation	NAS	11790558
GO:0045663	Process	Positive regulation of myoblast differentiation	NAS	15985610
GO:0070316	Process	Regulation of G0 to G1 transition	NAS	11790558
GO:2000045	Process	Regulation of G1/S transition of mitotic cell cycle	NAS	10778858
GO:2000781	Process	Positive regulation of double-strand break repair	NAS	25066234
GO:2000819	Process	Regulation of nucleotide-excision repair	NAS	12215535

MIM	HGNC	e!Ensembl
606083	30064	ENSG00000163939

Q86U86

Protein name

Protein polybromo-1 (hPB1) (BRG1-associated factor 180) (BAF180) (Polybromo-1D)

Protein function

Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Required for the stability of the SWI/SNF chromatin remodeling complex SWI/SNF-B (PBAF). Acts as a negative re

PDB

2KTB , 3G0J , 3HMF , 3IU5 , 3IU6 , 3K2J , 3LJW , 3MB4 , 3TLP , 4Q0N , 4Q0O , 4Y03 , 5E7D , 5FH6 , 5FH7 , 5FH8 , 5HRV , 5HRW , 5HRX , 5II1 , 5II2 , 5IID , 6OXB , 6ZN6 , 6ZNV , 6ZS3 , 6ZS4 , 7VDV , 7Y8R , 8FTA

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00439	Bromodomain	54 → 139	Bromodomain	Domain
PF00439	Bromodomain	186 → 275	Bromodomain	Domain
PF00439	Bromodomain	393 → 475	Bromodomain	Domain
PF00439	Bromodomain	537 → 613	Bromodomain	Domain
PF00439	Bromodomain	667 → 751	Bromodomain	Domain
PF00439	Bromodomain	783 → 867	Bromodomain	Domain
PF01426	BAH	956 → 1074	BAH domain	Domain
PF01426	BAH	1156 → 1272	BAH domain	Domain
PF00505	HMG_box	1379 → 1446	HMG (high mobility group) box	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:12487023}.

Sequence

MGSKRRRATSPSSSVSGDFDDGHHSVSTPGPSRKRRRLSNLPTVDPIAVCHELYNTIRDY
KDEQGRLLCELFIRAPKRRNQPDYYEVVSQPIDLMKIQQKLKMEEYDDVNLLTADFQLLF
NNAKSYYKPDSPEYKAACKLWDLYLRTRNEFVQKGEADDEDDDEDGQDNQGTVTEGSSPA
YLKEILEQLLEAIVVATNPSGRLISELFQKLPSKVQYPDYYAIIKEPIDLKTIAQRIQNG
SYKSIHAMAKDIDLLAKNAKTYNEPGSQVFKDANSIKKIFYMKKAEIEHHEMAKSSLRMR
TPSNLAAARLTGPSHSKGSLGEERNPTSKYYRNKRAVQGGRLSAITMALQYGSESEEDAA
LAAARYEEGESEAESITSFMDVSNPFYQLYDTVRSCRNNQGQLIAEPFYHLPSKKKYPDY
YQQIKMPISLQQIRTKLKNQEYETLDHLECDLNLMFENAKRYNVPNSAIYKRVLKLQQVM
QAKKKELARRDDIEDGDSMISSATSDTGSAKRKSKKNIRKQRMKILFNVVLEAREPGSGR
RLCDLFMVKPSKKDYPDYYKIILEPMDLKIIEHNIRNDKYAGEEGMIEDMKLMFRNARHY
NEEGSQVYNDAHILEKLLKEKRKELGPLPDDDDMASPKLKLSRKSGISPKKSKYMTPMQQ
KLNEVYEAVKNYTDKRGRRLSAIFLRLPSRSELPDYYLTIKKPMDMEKIRSHMMANKYQD
IDSMVEDFVMMFNNACTYNEPESLIYKDALVLHKVLLETRRDLEGDEDSHVPNVTLLIQE
LIHNLFVSVMSHQDDEGRCYSDSLAEIPAVDPNFPNKPPLTFDIIRKNVENNRYRRLDLF
QEHMFEVLERARRMNRTDSEIYEDAVELQQFFIKIRDELCKNGEILLSPALSYTTKHLHN
DVEKERKEKLPKEIEEDKLKREEEKREAEKSEDSSGAAGLSGLHRTYSQDCSFKNSMYHV
GDYVYVEPAEANLQPHIVCIERLWEDSAGEKWLYGCWFYRPNETFHLATRKFLEKEVFKS
DYYNKVPVSKILGKCVVMFVKEYFKLCPENFRDEDVFVCESRYSAKTKSFKKIKLWTMPI
SSVRFVPRDVPLPVVRVASVFANADKGDDEKNTDNSEDSRAEDNFNLEKEKEDVPVEMSN
GEPGCHYFEQLHYNDMWLKVGDCVFIKSHGLVRPRVGRIEKVWVRDGAAYFYGPIFIHPE
ETEHEPTKMFYKKEVFLSNLEETCPMTCILGKCAVLSFKDFLSCRPTEIPENDILLCESR
YNESDKQMKKFKGLKRFSLSAKVVDDEIYYFRKPIVPQKEPSPLLEKKIQLLEAKFAELE
GGDDDIEEMGEEDSEVIEPPSLPQLQTPLASELDLMPYTPPQSTPKSAKGSAKKEGSKRK
INMSGYILFSSEMRAVIKAQHPDYSFGELSRLVGTEWRNLETAKKAEYEERAAKVAEQQE
RERAAQQQQPSASPRAGTPVGALMGVVPPPTPMGMLNQQLTPVAGMMGGYPPGLPPLQGP
VDGLVSMGSMQPLHPGGPPPHHLPPGVPGLPGIPPPGVMNQGVAPMVGTPAPGGSPYGQQ
VGVLGPPGQQAPPPYPGPHPAGPPVIQQPTTPMFVAPPPKTQRLLHSEAYLKYIEGLSAE
SNSISKWDQTLAARRRDVHLSKEQESRLPSHWLKSKGAHTTMADALWRLRDLMLRDTLNI
RQAYNLENV

Sequence length

1689

Interactions

View interactions

	KEGG		Reactome
	ATP-dependent chromatin remodeling Hepatocellular carcinoma		RMTs methylate histone arginines RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Clear cell carcinoma of kidney	Pathogenic	rs864321679	RCV000203297

Show/Hide Unknown Diseases (15)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs72947594, rs56134416, rs1987234	RCV005915134 RCV005919910 RCV005922197
Cervical cancer	Benign	rs72947594, rs116758482, rs6796577, rs56134416, rs1987234	RCV005915135 RCV005918181 RCV005917374 RCV005919911 RCV005922199
Cholangiocarcinoma	Benign	rs72947594, rs56134416	RCV005915141 RCV005919916
Familial pancreatic carcinoma	Benign	rs72947594	RCV005915136
Gastric cancer	Benign	rs72947594	RCV005915138
Hepatocellular carcinoma	Benign	rs7652191, rs2590846	RCV005924695 RCV005924925
Lung cancer	Benign	rs72947594	RCV005915142
Malignant lymphoma, large B-cell, diffuse	Benign	rs7652191, rs2590846	RCV005924696 RCV005924926
Malignant tumor of esophagus	Benign; Likely benign	rs116758482, rs6796577, rs1987234, rs11719685	RCV005918180 RCV005917373 RCV005922198 RCV005905297
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs72947594, rs56134416, rs1987234, rs11719685	RCV005915139 RCV005919913 RCV005922201 RCV005905298
PBRM1-related BAFopathy	Uncertain significance	rs2153491813	RCV001533039
Sarcoma	Benign	rs72947594, rs116758482, rs6796577, rs56134416, rs1987234	RCV005915137 RCV005918182 RCV005917375 RCV005919912 RCV005922200
Thymoma	Benign	rs56134416	RCV005919915
Uterine carcinosarcoma	Benign	rs72947594, rs56134416, rs1987234	RCV005915140 RCV005919914 RCV005922202
Uterine corpus endometrial carcinoma	Likely benign	rs11719685	RCV005905299

Show/Hide Text Mining Associations (61)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma Clear Cell	Associate	37697729
Adenocarcinoma of Lung	Associate	35301413
Anemia Aplastic	Stimulate	29596882
Bile Duct Neoplasms	Associate	31122820
Biliary Tract Neoplasms	Associate	29360550, 34145795, 37341068
Breast Neoplasms	Associate	18339845, 26464681, 36404592
Calcinosis Cutis	Associate	28327121
Carcinogenesis	Associate	18339845, 27100670, 28394406, 36261012
Carcinoma	Associate	28731042, 34118935
Carcinoma Non Small Cell Lung	Associate	36456601
Carcinoma Pancreatic Ductal	Associate	28810144
Carcinoma Papillary	Associate	28731042, 36178086
Carcinoma Renal Cell	Associate	23036577, 23333114, 23416164, 23620406, 23792563, 23867514, 24029645, 24158655, 24821879, 24992170, 25124064, 25465300, 25753955, 26300218, 26452128 View all (57 more)
Cholangiocarcinoma	Associate	24185509, 24867389, 25536104, 29551704, 31122820, 32293336, 33579226, 33765338, 35726602, 38281914
Chordoma	Associate	33536423
Clear cell metastatic renal cell carcinoma	Associate	32661119
Coffin Siris syndrome	Associate	34906496
Esophageal Squamous Cell Carcinoma	Associate	26812616
Gallbladder Neoplasms	Associate	31122820
Genetic Diseases Inborn	Associate	19728075
Glioma	Associate	37094128
Hemolytic Uremic Syndrome	Associate	38237287
Hypoxia	Associate	27100670, 29301960
Infections	Associate	21249207, 22398284
Inflammation	Associate	36445328
Influenza Human	Associate	29667576
Kidney Failure Chronic	Associate	23036577
Kidney Neoplasms	Associate	23867514, 32396860, 35368029
Klatskin Tumor	Associate	31122820
Lung Diseases	Associate	38237287
Lymphatic Metastasis	Inhibit	26464681
Meningeal Carcinomatosis	Associate	26864202
Meningioma	Associate	33087175
Mesothelioma	Associate	34531524
Mesothelioma Malignant	Associate	27834213, 32504035, 35849291
Migraine Disorders	Associate	34294844
Necrosis	Associate	30660076
Neoplasm Metastasis	Associate	25536104, 29674707, 32811483, 33664427, 34535962, 34580025, 35726602, 37749865
Neoplasm Metastasis	Inhibit	28394406
Neoplasms	Associate	18339845, 22156295, 22683710, 23036577, 23333114, 23355908, 23620406, 23636849, 23867514, 24185509, 24817979, 24867389, 24974848, 25066234, 25124064 View all (38 more)
Neoplasms	Inhibit	24821879, 26464681, 27100670, 27556922, 29551704, 32472114, 35412614, 37749865
Neoplasms Glandular and Epithelial	Associate	28394406
Neurofibromatosis 2	Associate	36917021
Oncocytoma renal	Associate	25465300
Pancreatic Intraductal Neoplasms	Associate	28776573, 36056133
Pancreatic Neoplasms	Associate	23229642, 34375311
Peritonitis	Associate	30862609, 37453150
Personality Disorders	Stimulate	31212728
Pityriasis Rubra Pilaris	Associate	27407122
Prostatic Neoplasms	Associate	31212728, 36227159
Prostatic Neoplasms Castration Resistant	Associate	31212728
Psychotic Disorders	Associate	23967141
Recombinant chromosome 8 syndrome	Associate	38607586
Rhabdoid Tumor	Associate	22683710, 26111976, 31912158
Rufous oculocutaneous albinism	Associate	35301413
Skull Base Neoplasms	Associate	33536423
Squamous Cell Carcinoma of Head and Neck	Associate	18339795, 36362284
Stomach Neoplasms	Associate	33481850, 34145795, 35928964
Thymoma	Associate	24974848
Thyroid Neoplasms	Associate	38275291
Triple Negative Breast Neoplasms	Associate	36445328

PBRM1 (polybromo 1)