GeDiPNet: Comprehensive Gene Data - OMIM, HGNC, Ensembl, UniProt, GO, Transcription Factors & miRNA

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PRPF40B (pre-mRNA processing factor 40B)

Gene

25766

Pre-mRNA processing factor 40B

PRPF40B

HYPC

12q13.12

This gene encodes a WW-domain containing protein similar to yeast splicing factor PRP40. This protein has been shown to interact with Huntingtin and methyl CpG binding protein 2 (MeCP2). Alternative splicing results in different transcript variants. [prov

Show/Hide all(126)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016390	hsa-miR-193b-3p	Microarray	20304954
MIRT017362	hsa-miR-335-5p	Microarray	18185580
MIRT1265675	hsa-miR-3146	CLIP-seq
MIRT1265676	hsa-miR-4269	CLIP-seq
MIRT1265677	hsa-miR-4690-5p	CLIP-seq
MIRT2304580	hsa-miR-1827	CLIP-seq
MIRT2393057	hsa-miR-1236	CLIP-seq
MIRT2393058	hsa-miR-134	CLIP-seq
MIRT2393059	hsa-miR-3118	CLIP-seq
MIRT2393060	hsa-miR-3164	CLIP-seq
MIRT2393061	hsa-miR-4254	CLIP-seq
MIRT2393062	hsa-miR-4292	CLIP-seq
MIRT2393063	hsa-miR-4308	CLIP-seq
MIRT2393064	hsa-miR-4522	CLIP-seq
MIRT2393065	hsa-miR-670	CLIP-seq
MIRT2457236	hsa-miR-193a-3p	CLIP-seq
MIRT2457237	hsa-miR-193b	CLIP-seq
MIRT2457238	hsa-miR-326	CLIP-seq
MIRT2457239	hsa-miR-330-5p	CLIP-seq
MIRT2457240	hsa-miR-3663-5p	CLIP-seq
MIRT2457241	hsa-miR-4527	CLIP-seq
MIRT2457242	hsa-miR-4642	CLIP-seq
MIRT2457243	hsa-miR-4717-3p	CLIP-seq
MIRT2457244	hsa-miR-4720-5p	CLIP-seq
MIRT2457245	hsa-miR-4799-3p	CLIP-seq
MIRT2457246	hsa-miR-892b	CLIP-seq
MIRT2393057	hsa-miR-1236	CLIP-seq
MIRT2601609	hsa-miR-1288	CLIP-seq
MIRT2393058	hsa-miR-134	CLIP-seq
MIRT2304580	hsa-miR-1827	CLIP-seq
MIRT2457236	hsa-miR-193a-3p	CLIP-seq
MIRT2457237	hsa-miR-193b	CLIP-seq
MIRT2393059	hsa-miR-3118	CLIP-seq
MIRT2601610	hsa-miR-3127-3p	CLIP-seq
MIRT2601611	hsa-miR-3144-5p	CLIP-seq
MIRT2393060	hsa-miR-3164	CLIP-seq
MIRT2601612	hsa-miR-3169	CLIP-seq
MIRT2457238	hsa-miR-326	CLIP-seq
MIRT2457239	hsa-miR-330-5p	CLIP-seq
MIRT2601613	hsa-miR-335	CLIP-seq
MIRT2601614	hsa-miR-342-3p	CLIP-seq
MIRT2601615	hsa-miR-3591-3p	CLIP-seq
MIRT2601616	hsa-miR-3616-3p	CLIP-seq
MIRT2457240	hsa-miR-3663-5p	CLIP-seq
MIRT2601617	hsa-miR-377	CLIP-seq
MIRT2601618	hsa-miR-3919	CLIP-seq
MIRT2601619	hsa-miR-3925-5p	CLIP-seq
MIRT2393061	hsa-miR-4254	CLIP-seq
MIRT2601620	hsa-miR-4270	CLIP-seq
MIRT2601621	hsa-miR-4283	CLIP-seq
MIRT2393062	hsa-miR-4292	CLIP-seq
MIRT2393063	hsa-miR-4308	CLIP-seq
MIRT2601622	hsa-miR-4441	CLIP-seq
MIRT2601623	hsa-miR-4489	CLIP-seq
MIRT2393064	hsa-miR-4522	CLIP-seq
MIRT2457241	hsa-miR-4527	CLIP-seq
MIRT2457242	hsa-miR-4642	CLIP-seq
MIRT2601624	hsa-miR-4656	CLIP-seq
MIRT2601625	hsa-miR-4667-5p	CLIP-seq
MIRT2601626	hsa-miR-4685-5p	CLIP-seq
MIRT2601627	hsa-miR-4700-5p	CLIP-seq
MIRT2601628	hsa-miR-4715-3p	CLIP-seq
MIRT2457243	hsa-miR-4717-3p	CLIP-seq
MIRT2457244	hsa-miR-4720-5p	CLIP-seq
MIRT2601629	hsa-miR-4721	CLIP-seq
MIRT2601630	hsa-miR-4768-5p	CLIP-seq
MIRT2601631	hsa-miR-4773	CLIP-seq
MIRT2601632	hsa-miR-4780	CLIP-seq
MIRT2601633	hsa-miR-4793-3p	CLIP-seq
MIRT2457245	hsa-miR-4799-3p	CLIP-seq
MIRT2601634	hsa-miR-554	CLIP-seq
MIRT2601635	hsa-miR-604	CLIP-seq
MIRT2601636	hsa-miR-637	CLIP-seq
MIRT2393065	hsa-miR-670	CLIP-seq
MIRT2457246	hsa-miR-892b	CLIP-seq
MIRT2601637	hsa-miR-942	CLIP-seq
MIRT2393057	hsa-miR-1236	CLIP-seq
MIRT2688718	hsa-miR-1266	CLIP-seq
MIRT2601609	hsa-miR-1288	CLIP-seq
MIRT2393058	hsa-miR-134	CLIP-seq
MIRT2457236	hsa-miR-193a-3p	CLIP-seq
MIRT2457237	hsa-miR-193b	CLIP-seq
MIRT2393059	hsa-miR-3118	CLIP-seq
MIRT2688719	hsa-miR-3127-5p	CLIP-seq
MIRT2601611	hsa-miR-3144-5p	CLIP-seq
MIRT2393060	hsa-miR-3164	CLIP-seq
MIRT2601612	hsa-miR-3169	CLIP-seq
MIRT2457238	hsa-miR-326	CLIP-seq
MIRT2457239	hsa-miR-330-5p	CLIP-seq
MIRT2601613	hsa-miR-335	CLIP-seq
MIRT2601615	hsa-miR-3591-3p	CLIP-seq
MIRT2601616	hsa-miR-3616-3p	CLIP-seq
MIRT2457240	hsa-miR-3663-5p	CLIP-seq
MIRT2688720	hsa-miR-3918	CLIP-seq
MIRT2393061	hsa-miR-4254	CLIP-seq
MIRT2601620	hsa-miR-4270	CLIP-seq
MIRT2601621	hsa-miR-4283	CLIP-seq
MIRT2393062	hsa-miR-4292	CLIP-seq
MIRT2393063	hsa-miR-4308	CLIP-seq
MIRT2688721	hsa-miR-4436b-3p	CLIP-seq
MIRT2601622	hsa-miR-4441	CLIP-seq
MIRT2601623	hsa-miR-4489	CLIP-seq
MIRT2688722	hsa-miR-4514	CLIP-seq
MIRT2688723	hsa-miR-4518	CLIP-seq
MIRT2393064	hsa-miR-4522	CLIP-seq
MIRT2457241	hsa-miR-4527	CLIP-seq
MIRT2688724	hsa-miR-4640-5p	CLIP-seq
MIRT2457242	hsa-miR-4642	CLIP-seq
MIRT2601624	hsa-miR-4656	CLIP-seq
MIRT2601625	hsa-miR-4667-5p	CLIP-seq
MIRT2601626	hsa-miR-4685-5p	CLIP-seq
MIRT2688725	hsa-miR-4692	CLIP-seq
MIRT2601627	hsa-miR-4700-5p	CLIP-seq
MIRT2601628	hsa-miR-4715-3p	CLIP-seq
MIRT2457243	hsa-miR-4717-3p	CLIP-seq
MIRT2457244	hsa-miR-4720-5p	CLIP-seq
MIRT2601629	hsa-miR-4721	CLIP-seq
MIRT2688726	hsa-miR-4726-5p	CLIP-seq
MIRT2601632	hsa-miR-4780	CLIP-seq
MIRT2601633	hsa-miR-4793-3p	CLIP-seq
MIRT2457245	hsa-miR-4799-3p	CLIP-seq
MIRT2601634	hsa-miR-554	CLIP-seq
MIRT2601635	hsa-miR-604	CLIP-seq
MIRT2601636	hsa-miR-637	CLIP-seq
MIRT2393065	hsa-miR-670	CLIP-seq
MIRT2457246	hsa-miR-892b	CLIP-seq

Show/Hide all(7)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000398	Process	MRNA splicing, via spliceosome	IBA	21873635
GO:0003723	Function	RNA binding	IBA	21873635
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005685	Component	U1 snRNP	IBA	21873635
GO:0016607	Component	Nuclear speck	IEA
GO:0045292	Process	MRNA cis splicing, via spliceosome	IEA
GO:0071004	Component	U2-type prespliceosome	IBA	21873635

MIM	HGNC	e!Ensembl
621019	25031	ENSG00000110844

Protein

UniProt ID

Q6NWY9

Protein name

Pre-mRNA-processing factor 40 homolog B (Huntingtin yeast partner C) (Huntingtin-interacting protein C)

Protein function

May be involved in pre-mRNA splicing.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00397	WW	96 → 123	WW domain	Domain
PF00397	WW	135 → 164	WW domain	Domain
PF01846	FF	278 → 327	FF domain	Family
PF01846	FF	492 → 547	FF domain	Family

Sequence

MMPPPFMPPPGIPPPFPPMGLPPMSQRPPAIPPMPPGILPPMLPPMGAPPPLTQIPGMVP
PMMPGMLMPAVPVTAATAPGADTASSAVAGTGPPRALWSEHVAPDGRIYYYNADDKQSVW
EKPSVLKSKAELLLSQCPWKEYKSDTGKPYYYNNQSKESRWTRPKDLDDLEVLVKQEAAG
KQQQQLPQTLQPQPPQPQPDPPPVPPGPTPVPTGLLEPEPGGSEDCDVLEATQPLEQGFL
QQLEEGPSSSGQHQPQQEEEESKPEPERSGLSWSNREKAKQAFKELLRDKAVPSNASWEQ
AMKMVVTDPRYSALPKLSEKKQAFNAYKAQREKEEKEEARLRAKEAKQTLQHFLEQHERM
TSTTRYRRAEQTFGELEVWAVVPERDRKEVYDDVLFFLAKKEKEQAKQLRRRNIQALKSI
LDGMSSVNFQTTWSQAQQYLMDNPSFAQDHQLQNMDKEDALICFEEHIRALEREEEEERE
RARLRERRQQRKNREAFQTFLDELHETGQLHSMSTWMELYPAVSTDVRFANMLGQPGSTP
LDLFKFYVEELKARFHDEKKIIKDILKDRGFCVEVNTAFEDFAHVISFDKRAAALDAGNI
KLTFNSLLEKAEAREREREKEEARRMRRREAAFRSMLRQAVPALELGTAWEEVRERFVCD
SAFEQITLESERIRLFREFLQVLEQTECQHLHTKGRKHGRKGKKHHHKRSHSPSGSESEE
EELPPPSLRPPKRRRRNPSESGSEPSSSLDSVESGGAALGGRGSPSSHLLGADHGLRKAK
KPKKKTKKRRHKSNSPESETDPEEKAGKESDEKEQEQDKDRELQQAELPNRSPGFGIKKE
KTGWDTSESELSEGELERRRRTLLQQLDDHQ

Sequence length

871

Interactions

View interactions

	KEGG
	Spliceosome

Associated diseases

Show/Hide Causal Diseases (2)

Causal
Disease name	Disease term	dbSNP ID	References
Nephronophthisis	Nephronophthisis	rs62635288, rs267607116, rs201893408, rs267607117, rs202149403, rs118204032, rs121918244, rs750962965, rs1474058708, rs119456959, rs119456960, rs119456961, rs119456962, rs267606916, rs137852856, rs137852918, rs137852919, rs137852920, rs28940891, rs1278089386, rs137852922, rs137852923, rs1233478832, rs121907898, rs121907899, rs74315396, rs104893698, rs28936684, rs104893701, rs104893705, rs797044441, rs104893716, rs121964994, rs267607185, rs200844390, rs753348470, rs387906983, rs786205114, rs373909351, rs387907009, rs140511594, rs387907059, rs766132877, rs201188361, rs193922432, rs1565649749, rs387907309, rs387907310, rs387907311, rs145646425, rs397514728, rs397514257, rs587777024, rs587777025, rs397514258, rs375661404, rs398123285, rs398123538, rs398124546, rs368138001, rs759330, rs2070634, rs2070635, rs353623, rs353618, rs353612, rs353637, rs353630, rs353647, rs3794110, rs3794109, rs112762, rs3794105, rs7110737, rs7116432, rs6055363, rs2294305, rs2235250, rs2294301, rs2423326, rs6118004, rs2205818, rs2142697, rs6140463, rs2235245, rs2255183, rs587777350, rs587777351, rs587777352, rs587777486, rs879255575, rs368619022, rs879255576, rs587777487, rs369483167, rs587777488, rs587783011, rs144972972, rs727503968, rs727503969, rs730880299, rs757704417, rs760040426, rs758558609, rs755549444, rs763300393, rs794727964, rs182135982, rs758498695, rs775883520, rs777686211, rs756856188, rs777668842, rs756302731, rs751527253, rs138783896, rs869312915, rs769256610, rs878855332, rs376879175, rs878855335, rs886041154, rs886041637, rs766524637, rs769739938, rs201405662, rs376974221, rs201633414, rs1057519303, rs1057519304, rs202001274, rs1057519305, rs1057519306, rs752616462, rs1060499938, rs745340459, rs771215577, rs1064794347, rs201091657, rs771742823, rs1553484094, rs747861275, rs773521620, rs1456714047, rs1553773271, rs1555564134, rs752792782, rs398124289, rs1025515771, rs747052534, rs904520404, rs1553200990, rs1553178047, rs866982675, rs1182741031, rs1556026984, rs150001738, rs780247729, rs1555564214, rs372607453, rs61893682, rs549662742, rs774456004, rs1189889920, rs370210428, rs1557580413, rs1368105372, rs1559056633, rs765263671, rs1280238814, rs1560000875, rs1560002147, rs758238787, rs201237799, rs1560017690, rs1564123602, rs1425211517, rs369437168, rs764893412, rs747914869, rs778819060, rs1207804224, rs756090222, rs1564228101, rs1565455033, rs1322951938, rs1564236717, rs1565454034, rs375753623, rs374141736, rs1349732291, rs1017750255, rs1210874691, rs1379989124, rs1565582604, rs1485445500, rs758275952, rs1276839362, rs1576682880, rs1588420907, rs375416014, rs955421639, rs1596759273, rs755288504, rs1588153872, rs780020801, rs1576660495, rs1596088812, rs1576875819, rs779696701, rs759262253, rs775612958, rs1570504754, rs754862360, rs1679148969, rs1311042980, rs1682584195, rs753517219, rs1358793834, rs1560002113, rs1939543636, rs1205325321, rs1329661241, rs140611214, rs780500128, rs2061113374, rs1652115764, rs780148543, rs749866369, rs1459158279, rs756111113	26489029
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	31374203

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