RBPJL (recombination signal binding protein for immunoglobulin kappa J region like)

Gene

• Entrez ID: 11317
• Gene name: Recombination signal binding protein for immunoglobulin kappa J region like
• Gene symbol: RBPJL
• Synonyms (NCBI Gene): RBPL, RBPSUHL, SUHL
• Chromosome: 20
• Chromosome location: 20q13.12
• Summary: This gene encodes a member of the suppressor of hairless protein family. A similar protein in mouse is a transcription factor that binds to DNA sequences almost identical to that bound by the Notch receptor signaling pathway transcription factor recombini

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs200998587	C>T	Risk-factor	Missense variant, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT499193	hsa-miR-6758-5p	PAR-CLIP	24398324
MIRT499191	hsa-miR-6856-5p	PAR-CLIP	24398324
MIRT499192	hsa-miR-6760-5p	PAR-CLIP	24398324
MIRT499190	hsa-miR-4716-3p	PAR-CLIP	24398324
MIRT499189	hsa-miR-6794-5p	PAR-CLIP	24398324
MIRT499188	hsa-miR-7515	PAR-CLIP	24398324
MIRT499187	hsa-miR-3184-5p	PAR-CLIP	24398324
MIRT499186	hsa-miR-423-5p	PAR-CLIP	24398324
MIRT499185	hsa-miR-1914-3p	PAR-CLIP	24398324
MIRT499184	hsa-miR-5194	PAR-CLIP	24398324
MIRT499183	hsa-miR-6738-5p	PAR-CLIP	24398324
MIRT499182	hsa-miR-3202	PAR-CLIP	24398324
MIRT499181	hsa-miR-185-5p	PAR-CLIP	24398324
MIRT499180	hsa-miR-4306	PAR-CLIP	24398324
MIRT499179	hsa-miR-4644	PAR-CLIP	24398324
MIRT499178	hsa-miR-4747-5p	PAR-CLIP	24398324
MIRT499177	hsa-miR-5196-5p	PAR-CLIP	24398324
MIRT499176	hsa-miR-6731-5p	PAR-CLIP	24398324
MIRT499174	hsa-miR-8085	PAR-CLIP	24398324
MIRT499175	hsa-miR-4271	PAR-CLIP	24398324
MIRT499173	hsa-miR-4725-3p	PAR-CLIP	24398324
MIRT499172	hsa-miR-6780b-5p	PAR-CLIP	24398324
MIRT499171	hsa-miR-625-5p	PAR-CLIP	24398324
MIRT499170	hsa-miR-6734-5p	PAR-CLIP	24398324
MIRT499169	hsa-miR-1303	PAR-CLIP	24398324
MIRT499193	hsa-miR-6758-5p	PAR-CLIP	24398324
MIRT499191	hsa-miR-6856-5p	PAR-CLIP	24398324
MIRT499192	hsa-miR-6760-5p	PAR-CLIP	24398324
MIRT499190	hsa-miR-4716-3p	PAR-CLIP	24398324
MIRT499189	hsa-miR-6794-5p	PAR-CLIP	24398324
MIRT499188	hsa-miR-7515	PAR-CLIP	24398324
MIRT499187	hsa-miR-3184-5p	PAR-CLIP	24398324
MIRT499186	hsa-miR-423-5p	PAR-CLIP	24398324
MIRT499185	hsa-miR-1914-3p	PAR-CLIP	24398324
MIRT499184	hsa-miR-5194	PAR-CLIP	24398324
MIRT499183	hsa-miR-6738-5p	PAR-CLIP	24398324
MIRT499182	hsa-miR-3202	PAR-CLIP	24398324
MIRT499181	hsa-miR-185-5p	PAR-CLIP	24398324
MIRT499180	hsa-miR-4306	PAR-CLIP	24398324
MIRT499179	hsa-miR-4644	PAR-CLIP	24398324
MIRT499178	hsa-miR-4747-5p	PAR-CLIP	24398324
MIRT499177	hsa-miR-5196-5p	PAR-CLIP	24398324
MIRT499176	hsa-miR-6731-5p	PAR-CLIP	24398324
MIRT499174	hsa-miR-8085	PAR-CLIP	24398324
MIRT499175	hsa-miR-4271	PAR-CLIP	24398324
MIRT499173	hsa-miR-4725-3p	PAR-CLIP	24398324
MIRT499172	hsa-miR-6780b-5p	PAR-CLIP	24398324
MIRT499171	hsa-miR-625-5p	PAR-CLIP	24398324
MIRT499170	hsa-miR-6734-5p	PAR-CLIP	24398324
MIRT499169	hsa-miR-1303	PAR-CLIP	24398324
MIRT1297401	hsa-miR-1253	CLIP-seq
MIRT1297402	hsa-miR-134	CLIP-seq
MIRT1297403	hsa-miR-1912	CLIP-seq
MIRT1297404	hsa-miR-3118	CLIP-seq
MIRT1297405	hsa-miR-3165	CLIP-seq
MIRT1297406	hsa-miR-3189-5p	CLIP-seq
MIRT1297407	hsa-miR-3646	CLIP-seq
MIRT1297408	hsa-miR-3649	CLIP-seq
MIRT1297409	hsa-miR-4434	CLIP-seq
MIRT1297410	hsa-miR-4471	CLIP-seq
MIRT1297411	hsa-miR-4476	CLIP-seq
MIRT1297412	hsa-miR-4516	CLIP-seq
MIRT1297413	hsa-miR-4533	CLIP-seq
MIRT1297414	hsa-miR-4648	CLIP-seq
MIRT1297415	hsa-miR-4726-3p	CLIP-seq
MIRT1297416	hsa-miR-4758-3p	CLIP-seq
MIRT1297417	hsa-miR-524-3p	CLIP-seq
MIRT1297418	hsa-miR-525-3p	CLIP-seq
MIRT1297419	hsa-miR-548q	CLIP-seq
MIRT1297420	hsa-miR-582-3p	CLIP-seq
MIRT1297421	hsa-miR-637	CLIP-seq
MIRT1297422	hsa-miR-665	CLIP-seq
MIRT1297423	hsa-miR-759	CLIP-seq
MIRT1297406	hsa-miR-3189-5p	CLIP-seq
MIRT1297408	hsa-miR-3649	CLIP-seq
MIRT2088396	hsa-miR-3907	CLIP-seq
MIRT1297410	hsa-miR-4471	CLIP-seq
MIRT1297414	hsa-miR-4648	CLIP-seq
MIRT2088397	hsa-miR-4685-5p	CLIP-seq
MIRT1297415	hsa-miR-4726-3p	CLIP-seq
MIRT1297416	hsa-miR-4758-3p	CLIP-seq
MIRT1297419	hsa-miR-548q	CLIP-seq
MIRT1297420	hsa-miR-582-3p	CLIP-seq
MIRT1297406	hsa-miR-3189-5p	CLIP-seq
MIRT1297408	hsa-miR-3649	CLIP-seq
MIRT2088396	hsa-miR-3907	CLIP-seq
MIRT1297410	hsa-miR-4471	CLIP-seq
MIRT1297414	hsa-miR-4648	CLIP-seq
MIRT2088397	hsa-miR-4685-5p	CLIP-seq
MIRT1297415	hsa-miR-4726-3p	CLIP-seq
MIRT1297416	hsa-miR-4758-3p	CLIP-seq
MIRT1297419	hsa-miR-548q	CLIP-seq
MIRT1297420	hsa-miR-582-3p	CLIP-seq
MIRT1297406	hsa-miR-3189-5p	CLIP-seq
MIRT1297408	hsa-miR-3649	CLIP-seq
MIRT2088396	hsa-miR-3907	CLIP-seq
MIRT1297410	hsa-miR-4471	CLIP-seq
MIRT1297414	hsa-miR-4648	CLIP-seq
MIRT2088397	hsa-miR-4685-5p	CLIP-seq
MIRT1297415	hsa-miR-4726-3p	CLIP-seq
MIRT1297416	hsa-miR-4758-3p	CLIP-seq
MIRT1297419	hsa-miR-548q	CLIP-seq
MIRT1297420	hsa-miR-582-3p	CLIP-seq
MIRT2457964	hsa-miR-1207-5p	CLIP-seq
MIRT2457965	hsa-miR-1827	CLIP-seq
MIRT2457966	hsa-miR-3160-3p	CLIP-seq
MIRT2457967	hsa-miR-4270	CLIP-seq
MIRT2457968	hsa-miR-4441	CLIP-seq
MIRT2457969	hsa-miR-4709-3p	CLIP-seq
MIRT2457970	hsa-miR-4763-3p	CLIP-seq
MIRT2457971	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	9929984
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IEA
GO:0005667	Component	Transcription regulator complex	IEA
GO:0007165	Process	Signal transduction	TAS	9929984
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA

Other IDs

• MIM: 616104
• HGNC: 13761
• e!Ensembl: ENSG00000124232

Protein

• UniProt ID: Q9UBG7
• Protein name: Recombining binding protein suppressor of hairless-like protein (Transcription factor RBP-L)
• Protein function: Putative transcription factor, which cooperates with EBNA2 to activate transcription.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09271	LAG1-DNAbind	69 → 206	LAG1, DNA binding	Domain
  PF09270	BTD	234 → 359	Beta-trefoil DNA-binding domain	Domain

• Sequence:

  MDPAGAADPSVPPNPLTHLSLQDRSEMQLQSEADRRSLPGTWTRSSPEHTTILRGGVRRC
  LQQQCEQTVRILHAKVAQKSYGNEKRFFCPPPCVYLSGPGWRVKPGQDQAHQAGETGPTV
  CGYMGLDSASGSATETQKLNFEQQPDSREFGCAKTLYISDADKRKHFRLVLRLVLRGGRE
  LGTFHSRLIKVISKPSQKKQSLKNTDLCISSGSKVSLFNRLRSQTVSTRYLSVEDGAFVA
  SARQWAAFTLHLADGHSAQGDFPPREGYVRYGSLVQLVCTVTGITLPPMIIRKVAKQCAL
  LDVDEPISQLHKCAFQFPGSPPGGGGTYLCLATEKVVQFQASPCPKEANRALLNDSSCWT
  IIGTESVEFSFSTSLACTLEPVTPVPLISTLELSGGGDVATLELHGENFHAGLKVWFGDV
  EAETMYRSPRSLVCVVPDVAAFCSDWRWLRAPITIPMSLVRADGLFYPSAFSFTYTPEYS
  VRPGHPGVPEPATDADALLESIHQEFTRTNFHLFIQT

• Sequence length: 517

Pathways

KEGG:

Notch signaling pathway
Th1 and Th2 cell differentiation
Spinocerebellar ataxia
Human papillomavirus infection
Epstein-Barr virus infection
Viral carcinogenesis

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261

Unknown
Disease term	Disease name	Evidence	References	Source
Bipolar Disorder	Bipolar Disorder			GWAS