Q6NWY9 (PR40B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Pre-mRNA-processing factor 40 homolog B

Alternative name(s):
Huntingtin yeast partner C
Huntingtin-interacting protein C

Gene names

Name:	PRPF40B
Synonyms:	HYPC

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	871 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May be involved in pre-mRNA splicing. Ref.5
Subunit structure	Interacts with the N-terminus of HD. Ref.5
Subcellular location	Nucleus speckle Ref.6.
Tissue specificity	Expressed in the striatum and cortex of the brain (at protein level). Highly expressed in testis, fetal kidney and fetal brain. Moderately expressed in pancreas, skeletal muscle, placenta, brain and heart. Weakly expressed in colon, ileum, ovary, prostate, spleen, kidney and fetal lung. Ref.5 Ref.6
Sequence similarities	Belongs to the PRPF40 family. Contains 2 FF domains. Contains 2 WW domains.
Sequence caution	The sequence AAH50398.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence. The sequence BAB15662.1 differs from that shown. Reason: Frameshift at positions 537 and 851.

Ontologies

Keywords
Biological process	mRNA processing mRNA splicing
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing
Domain	Repeat
PTM	Acetylation Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	RNA splicing Inferred from electronic annotation. Source: UniProtKB-KW mRNA processing Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nuclear speck Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q6NWY9-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q6NWY9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-7: MMPPPFM → M
     568-574: Missing.

Isoform 3 (identifier: Q6NWY9-3)

The sequence of this isoform differs from the canonical sequence as follows:
     685-685: Missing.

Isoform 4 (identifier: Q6NWY9-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-6: MMPPPF → M
     77-200: TAPGADTASS...QPQPPQPQPD → VSTRGQQVAG...CCAFLCYRSV
     201-871: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 871	871	Pre-mRNA-processing factor 40 homolog B		PRO_0000309282
Regions
	Domain	92 – 125	34	WW 1
	Domain	133 – 166	34	WW 2
	Domain	278 – 327	50	FF 1
	Domain	492 – 547	56	FF 2
	Compositional bias	3 – 72	70	Pro-rich
Amino acid modifications
	Modified residue	148	1	N6-acetyllysine Ref.7
	Modified residue	764	1	Phosphoserine Ref.8
Natural variations
	Alternative sequence	1 – 7	7	MMPPPFM → M in isoform 2.		VSP_029117
	Alternative sequence	1 – 6	6	MMPPPF → M in isoform 4.		VSP_029116
	Alternative sequence	77 – 200	124	TAPGA…QPQPD → VSTRGQQVAGSALQSRESDL ECRTMTSILSLFSSHPPRSP AALPTLKSFSPAMYSALLVS HSSPKAYTFSCYSRALSSSL KEHTYPHRATHCGHMNIVLH ILFVPRRVSSTWGSCCAFLC YRSV in isoform 4.		VSP_029120
	Alternative sequence	201 – 871	671	Missing in isoform 4.		VSP_029121
	Alternative sequence	568 – 574	7	Missing in isoform 2.		VSP_029118
	Alternative sequence	685	1	Missing in isoform 3.		VSP_029119

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified July 5, 2004. Version 1. Checksum: BB62C95BEFB9D23A	FASTA	871	99,358
	10 20 30 40 50 60 MMPPPFMPPP GIPPPFPPMG LPPMSQRPPA IPPMPPGILP PMLPPMGAPP PLTQIPGMVP 70 80 90 100 110 120 PMMPGMLMPA VPVTAATAPG ADTASSAVAG TGPPRALWSE HVAPDGRIYY YNADDKQSVW 130 140 150 160 170 180 EKPSVLKSKA ELLLSQCPWK EYKSDTGKPY YYNNQSKESR WTRPKDLDDL EVLVKQEAAG 190 200 210 220 230 240 KQQQQLPQTL QPQPPQPQPD PPPVPPGPTP VPTGLLEPEP GGSEDCDVLE ATQPLEQGFL 250 260 270 280 290 300 QQLEEGPSSS GQHQPQQEEE ESKPEPERSG LSWSNREKAK QAFKELLRDK AVPSNASWEQ 310 320 330 340 350 360 AMKMVVTDPR YSALPKLSEK KQAFNAYKAQ REKEEKEEAR LRAKEAKQTL QHFLEQHERM 370 380 390 400 410 420 TSTTRYRRAE QTFGELEVWA VVPERDRKEV YDDVLFFLAK KEKEQAKQLR RRNIQALKSI 430 440 450 460 470 480 LDGMSSVNFQ TTWSQAQQYL MDNPSFAQDH QLQNMDKEDA LICFEEHIRA LEREEEEERE 490 500 510 520 530 540 RARLRERRQQ RKNREAFQTF LDELHETGQL HSMSTWMELY PAVSTDVRFA NMLGQPGSTP 550 560 570 580 590 600 LDLFKFYVEE LKARFHDEKK IIKDILKDRG FCVEVNTAFE DFAHVISFDK RAAALDAGNI 610 620 630 640 650 660 KLTFNSLLEK AEAREREREK EEARRMRRRE AAFRSMLRQA VPALELGTAW EEVRERFVCD 670 680 690 700 710 720 SAFEQITLES ERIRLFREFL QVLEQTECQH LHTKGRKHGR KGKKHHHKRS HSPSGSESEE 730 740 750 760 770 780 EELPPPSLRP PKRRRRNPSE SGSEPSSSLD SVESGGAALG GRGSPSSHLL GADHGLRKAK 790 800 810 820 830 840 KPKKKTKKRR HKSNSPESET DPEEKAGKES DEKEQEQDKD RELQQAELPN RSPGFGIKKE 850 860 870 KTGWDTSESE LSEGELERRR RTLLQQLDDH Q
	Isoform 2 [UniParc]. Checksum: 6A34A4D6ADD2E352	FASTA	858	97,850
	10 20 30 40 50 60 MPPPGIPPPF PPMGLPPMSQ RPPAIPPMPP GILPPMLPPM GAPPPLTQIP GMVPPMMPGM 70 80 90 100 110 120 LMPAVPVTAA TAPGADTASS AVAGTGPPRA LWSEHVAPDG RIYYYNADDK QSVWEKPSVL 130 140 150 160 170 180 KSKAELLLSQ CPWKEYKSDT GKPYYYNNQS KESRWTRPKD LDDLEVLVKQ EAAGKQQQQL 190 200 210 220 230 240 PQTLQPQPPQ PQPDPPPVPP GPTPVPTGLL EPEPGGSEDC DVLEATQPLE QGFLQQLEEG 250 260 270 280 290 300 PSSSGQHQPQ QEEEESKPEP ERSGLSWSNR EKAKQAFKEL LRDKAVPSNA SWEQAMKMVV 310 320 330 340 350 360 TDPRYSALPK LSEKKQAFNA YKAQREKEEK EEARLRAKEA KQTLQHFLEQ HERMTSTTRY 370 380 390 400 410 420 RRAEQTFGEL EVWAVVPERD RKEVYDDVLF FLAKKEKEQA KQLRRRNIQA LKSILDGMSS 430 440 450 460 470 480 VNFQTTWSQA QQYLMDNPSF AQDHQLQNMD KEDALICFEE HIRALEREEE EERERARLRE 490 500 510 520 530 540 RRQQRKNREA FQTFLDELHE TGQLHSMSTW MELYPAVSTD VRFANMLGQP GSTPLDLFKF 550 560 570 580 590 600 YVEELKARFH DEKKIIKDIL KVNTAFEDFA HVISFDKRAA ALDAGNIKLT FNSLLEKAEA 610 620 630 640 650 660 REREREKEEA RRMRRREAAF RSMLRQAVPA LELGTAWEEV RERFVCDSAF EQITLESERI 670 680 690 700 710 720 RLFREFLQVL EQTECQHLHT KGRKHGRKGK KHHHKRSHSP SGSESEEEEL PPPSLRPPKR 730 740 750 760 770 780 RRRNPSESGS EPSSSLDSVE SGGAALGGRG SPSSHLLGAD HGLRKAKKPK KKTKKRRHKS 790 800 810 820 830 840 NSPESETDPE EKAGKESDEK EQEQDKDREL QQAELPNRSP GFGIKKEKTG WDTSESELSE 850 GELERRRRTL LQQLDDHQ
	Isoform 3 [UniParc]. Checksum: F71680F3A1A304DF	FASTA	870	99,230
	10 20 30 40 50 60 MMPPPFMPPP GIPPPFPPMG LPPMSQRPPA IPPMPPGILP PMLPPMGAPP PLTQIPGMVP 70 80 90 100 110 120 PMMPGMLMPA VPVTAATAPG ADTASSAVAG TGPPRALWSE HVAPDGRIYY YNADDKQSVW 130 140 150 160 170 180 EKPSVLKSKA ELLLSQCPWK EYKSDTGKPY YYNNQSKESR WTRPKDLDDL EVLVKQEAAG 190 200 210 220 230 240 KQQQQLPQTL QPQPPQPQPD PPPVPPGPTP VPTGLLEPEP GGSEDCDVLE ATQPLEQGFL 250 260 270 280 290 300 QQLEEGPSSS GQHQPQQEEE ESKPEPERSG LSWSNREKAK QAFKELLRDK AVPSNASWEQ 310 320 330 340 350 360 AMKMVVTDPR YSALPKLSEK KQAFNAYKAQ REKEEKEEAR LRAKEAKQTL QHFLEQHERM 370 380 390 400 410 420 TSTTRYRRAE QTFGELEVWA VVPERDRKEV YDDVLFFLAK KEKEQAKQLR RRNIQALKSI 430 440 450 460 470 480 LDGMSSVNFQ TTWSQAQQYL MDNPSFAQDH QLQNMDKEDA LICFEEHIRA LEREEEEERE 490 500 510 520 530 540 RARLRERRQQ RKNREAFQTF LDELHETGQL HSMSTWMELY PAVSTDVRFA NMLGQPGSTP 550 560 570 580 590 600 LDLFKFYVEE LKARFHDEKK IIKDILKDRG FCVEVNTAFE DFAHVISFDK RAAALDAGNI 610 620 630 640 650 660 KLTFNSLLEK AEAREREREK EEARRMRRRE AAFRSMLRQA VPALELGTAW EEVRERFVCD 670 680 690 700 710 720 SAFEQITLES ERIRLFREFL QVLETECQHL HTKGRKHGRK GKKHHHKRSH SPSGSESEEE 730 740 750 760 770 780 ELPPPSLRPP KRRRRNPSES GSEPSSSLDS VESGGAALGG RGSPSSHLLG ADHGLRKAKK 790 800 810 820 830 840 PKKKTKKRRH KSNSPESETD PEEKAGKESD EKEQEQDKDR ELQQAELPNR SPGFGIKKEK 850 860 870 TGWDTSESEL SEGELERRRR TLLQQLDDHQ
	Isoform 4 [UniParc]. Checksum: 7CB0B62D1D447348	FASTA	195	20,892
	10 20 30 40 50 60 MMPPPGIPPP FPPMGLPPMS QRPPAIPPMP PGILPPMLPP MGAPPPLTQI PGMVPPMMPG 70 80 90 100 110 120 MLMPAVPVTA AVSTRGQQVA GSALQSRESD LECRTMTSIL SLFSSHPPRS PAALPTLKSF 130 140 150 160 170 180 SPAMYSALLV SHSSPKAYTF SCYSRALSSS LKEHTYPHRA THCGHMNIVL HILFVPRRVS 190 STWGSCCAFL CYRSV

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 494-871 (ISOFORM 3). Tissue: Caudate nucleus and Small intestine.
[2]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 419-871 (ISOFORM 3). Tissue: Testis.
[3]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-785 (ISOFORM 3). Tissue: Ovary and Skin.
[5]	"Huntingtin interacts with a family of WW domain proteins." Faber P.W., Barnes G.T., Srinidhi J., Chen J., Gusella J.F., MacDonald M.E. Hum. Mol. Genet. 7:1463-1474(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 36-179 (ISOFORMS 1/2/3), FUNCTION, INTERACTION WITH HD, TISSUE SPECIFICITY. Tissue: Testis.
[6]	"Huntingtin's WW domain partners in Huntington's disease post-mortem brain fulfill genetic criteria for direct involvement in Huntington's disease pathogenesis." Passani L.A., Bedford M.T., Faber P.W., McGinnis K.M., Sharp A.H., Gusella J.F., Vonsattel J.-P., MacDonald M.E. Hum. Mol. Genet. 9:2175-2182(2000) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
[7]	"Lysine acetylation targets protein complexes and co-regulates major cellular functions." Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M. Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-148, MASS SPECTROMETRY.
[8]	"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-764, MASS SPECTROMETRY.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK027117 mRNA. Translation: BAB15662.1. Frameshift. AK123353 mRNA. No translation available. AL137459 mRNA. Translation: CAB70747.1. AL834216 mRNA. Translation: CAD38898.1. CH471111 Genomic DNA. Translation: EAW58085.1. BC050398 mRNA. Translation: AAH50398.1. Sequence problems. BC067364 mRNA. Translation: AAH67364.1. AF049525 mRNA. Translation: AAC27503.1.
IPI	IPI00446681. IPI00465345. IPI00646529. IPI00789604.
PIR	T46402.
RefSeq	NP_001026868.2. NM_001031698.2.
UniGene	Hs.706827.
3D structure databases
HSSP	HSSP built from PDB template 1UZC based on UniProtKB O75400.
ProteinModelPortal	Q6NWY9.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000369634.
PTM databases
PhosphoSite	Q6NWY9.
Polymorphism databases
DMDM	74736936.
Proteomic databases
PaxDb	Q6NWY9.
PRIDE	Q6NWY9.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000261897; ENSP00000261897; ENSG00000110844. ENST00000380281; ENSP00000369634; ENSG00000110844.
GeneID	25766.
KEGG	hsa:25766.
UCSC	uc001rup.1. human. uc001ruq.1. human. uc001rur.1. human.
Organism-specific databases
CTD	25766.
GeneCards	GC12P049963.
HGNC	HGNC:25031. PRPF40B.
HPA	HPA038426. HPA038599.
neXtProt	NX_Q6NWY9.
PharmGKB	PA143485582.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5104.
HOVERGEN	HBG059634.
InParanoid	Q6NWY9.
KO	K12821.
OMA	QQLEEGP.
Gene expression databases
ArrayExpress	Q6NWY9.
Bgee	Q6NWY9.
CleanEx	HS_PRPF40B.
Genevestigator	Q6NWY9.
Family and domain databases
Gene3D	1.10.10.440. 4 hits.
InterPro	IPR002713. FF_domain. IPR001202. WW_dom. [Graphical view]
Pfam	PF01846. FF. 2 hits. PF00397. WW. 2 hits. [Graphical view]
SMART	SM00441. FF. 4 hits. SM00456. WW. 2 hits. [Graphical view]
SUPFAM	SSF81698. FF. 4 hits. SSF51045. WW_Rsp5_WWP. 2 hits.
PROSITE	PS01159. WW_DOMAIN_1. 1 hit. PS50020. WW_DOMAIN_2. 2 hits. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	PRPF40B. human.
GenomeRNAi	25766.
NextBio	46887.

Entry information

Entry name

PR40B_HUMAN

Accession

Primary (citable) accession number: Q6NWY9
Secondary accession number(s): O75401 , Q6PI09, Q6ZWB3, Q8NCZ1, Q9H5G4, Q9NT95

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 13, 2007
Last sequence update:	July 5, 2004
Last modified:	May 1, 2013
This is version 80 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.