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Q6NWY9 (PR40B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 88. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length871 AA.
Sequence statusComplete.
Protein existenceEvidence 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 6 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 processmRNA processing
mRNA splicing
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
   DomainRepeat
   PTMAcetylation
Phosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processRNA splicing

Inferred from electronic annotation. Source: UniProtKB-KW

mRNA processing

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentnuclear 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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 871871Pre-mRNA-processing factor 40 homolog B
PRO_0000309282

Regions

Domain92 – 12534WW 1
Domain133 – 16634WW 2
Domain276 – 33055FF 1
Domain340 – 39758FF 2
Domain410 – 47061FF 3
Domain490 – 55061FF 4
Domain554 – 61057FF 5
Domain625 – 68258FF 6
Compositional bias3 – 7270Pro-rich

Amino acid modifications

Modified residue1481N6-acetyllysine Ref.7
Modified residue7641Phosphoserine Ref.8

Natural variations

Alternative sequence1 – 77MMPPPFM → M in isoform 2.
VSP_029117
Alternative sequence1 – 66MMPPPF → M in isoform 4.
VSP_029116
Alternative sequence77 – 200124TAPGA…QPQPD → VSTRGQQVAGSALQSRESDL ECRTMTSILSLFSSHPPRSP AALPTLKSFSPAMYSALLVS HSSPKAYTFSCYSRALSSSL KEHTYPHRATHCGHMNIVLH ILFVPRRVSSTWGSCCAFLC YRSV in isoform 4.
VSP_029120
Alternative sequence201 – 871671Missing in isoform 4.
VSP_029121
Alternative sequence568 – 5747Missing in isoform 2.
VSP_029118
Alternative sequence6851Missing in isoform 3.
VSP_029119

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified July 5, 2004. Version 1.
Checksum: BB62C95BEFB9D23A

FASTA87199,358
        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 

« Hide

Isoform 2 [UniParc].

Checksum: 6A34A4D6ADD2E352
Show »

FASTA85897,850
Isoform 3 [UniParc].

Checksum: F71680F3A1A304DF
Show »

FASTA87099,230
Isoform 4 [UniParc].

Checksum: 7CB0B62D1D447348
Show »

FASTA19520,892

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

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.
PIRT46402.
RefSeqNP_001026868.2. NM_001031698.2.
UniGeneHs.706827.

3D structure databases

ProteinModelPortalQ6NWY9.
SMRQ6NWY9. Positions 80-173, 273-328, 401-475, 482-556, 626-690.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117305. 3 interactions.
MINTMINT-1537769.
STRING9606.ENSP00000369634.

PTM databases

PhosphoSiteQ6NWY9.

Polymorphism databases

DMDM74736936.

Proteomic databases

PaxDbQ6NWY9.
PRIDEQ6NWY9.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000261897; ENSP00000261897; ENSG00000110844. [Q6NWY9-2]
ENST00000380281; ENSP00000369634; ENSG00000110844. [Q6NWY9-1]
GeneID25766.
KEGGhsa:25766.
UCSCuc001ruq.2. human. [Q6NWY9-2]
uc001rur.2. human. [Q6NWY9-1]
uc001rus.2. human. [Q6NWY9-3]

Organism-specific databases

CTD25766.
GeneCardsGC12P049963.
HGNCHGNC:25031. PRPF40B.
HPAHPA038426.
HPA038599.
neXtProtNX_Q6NWY9.
PharmGKBPA143485582.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5104.
HOVERGENHBG059634.
InParanoidQ6NWY9.
KOK12821.
OMAEDCDVLE.
PhylomeDBQ6NWY9.
TreeFamTF318732.

Enzyme and pathway databases

SignaLinkQ6NWY9.

Gene expression databases

ArrayExpressQ6NWY9.
BgeeQ6NWY9.
CleanExHS_PRPF40B.
GenevestigatorQ6NWY9.

Family and domain databases

Gene3D1.10.10.440. 4 hits.
InterProIPR002713. FF_domain.
IPR001202. WW_dom.
[Graphical view]
PfamPF01846. FF. 2 hits.
PF00397. WW. 2 hits.
[Graphical view]
SMARTSM00441. FF. 4 hits.
SM00456. WW. 2 hits.
[Graphical view]
SUPFAMSSF51045. SSF51045. 2 hits.
SSF81698. SSF81698. 5 hits.
PROSITEPS51676. FF. 6 hits.
PS01159. WW_DOMAIN_1. 1 hit.
PS50020. WW_DOMAIN_2. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSPRPF40B. human.
GeneWikiPRPF40B.
GenomeRNAi25766.
NextBio46887.
PROQ6NWY9.

Entry information

Entry namePR40B_HUMAN
AccessionPrimary (citable) accession number: Q6NWY9
Secondary accession number(s): O75401 expand/collapse secondary AC list , Q6PI09, Q6ZWB3, Q8NCZ1, Q9H5G4, Q9NT95
Entry history
Integrated into UniProtKB/Swiss-Prot: November 13, 2007
Last sequence update: July 5, 2004
Last modified: April 16, 2014
This is version 88 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM