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Q6NWY9

- PR40B_HUMAN

UniProt

Q6NWY9 - PR40B_HUMAN

Protein

Pre-mRNA-processing factor 40 homolog B

Gene

PRPF40B

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 91 (01 Oct 2014)
      Sequence version 1 (05 Jul 2004)
      Previous versions | rss
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    Functioni

    May be involved in pre-mRNA splicing.1 Publication

    GO - Biological processi

    1. mRNA processing Source: UniProtKB-KW
    2. RNA splicing Source: UniProtKB-KW

    Keywords - Biological processi

    mRNA processing, mRNA splicing

    Enzyme and pathway databases

    SignaLinkiQ6NWY9.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Pre-mRNA-processing factor 40 homolog B
    Alternative name(s):
    Huntingtin yeast partner C
    Huntingtin-interacting protein C
    Gene namesi
    Name:PRPF40B
    Synonyms:HYPC
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:25031. PRPF40B.

    Subcellular locationi

    Nucleus speckle 1 Publication

    GO - Cellular componenti

    1. nuclear speck Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA143485582.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 871871Pre-mRNA-processing factor 40 homolog BPRO_0000309282Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei148 – 1481N6-acetyllysine1 Publication
    Modified residuei764 – 7641Phosphoserine1 Publication

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    MaxQBiQ6NWY9.
    PaxDbiQ6NWY9.
    PRIDEiQ6NWY9.

    PTM databases

    PhosphoSiteiQ6NWY9.

    Expressioni

    Tissue specificityi

    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.2 Publications

    Gene expression databases

    ArrayExpressiQ6NWY9.
    BgeeiQ6NWY9.
    CleanExiHS_PRPF40B.
    GenevestigatoriQ6NWY9.

    Organism-specific databases

    HPAiHPA038426.
    HPA038599.

    Interactioni

    Subunit structurei

    Interacts with the N-terminus of HD.1 Publication

    Protein-protein interaction databases

    BioGridi117305. 3 interactions.
    MINTiMINT-1537769.
    STRINGi9606.ENSP00000369634.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6NWY9.
    SMRiQ6NWY9. Positions 80-173, 273-328, 626-690.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini92 – 12534WW 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini133 – 16634WW 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini276 – 33055FF 1Add
    BLAST
    Domaini340 – 39758FF 2Add
    BLAST
    Domaini410 – 47061FF 3Add
    BLAST
    Domaini490 – 55061FF 4Add
    BLAST
    Domaini554 – 61057FF 5Add
    BLAST
    Domaini625 – 68258FF 6Add
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi3 – 7270Pro-richAdd
    BLAST

    Sequence similaritiesi

    Belongs to the PRPF40 family.Curated
    Contains 6 FF domains.Curated
    Contains 2 WW domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiCOG5104.
    HOVERGENiHBG059634.
    InParanoidiQ6NWY9.
    KOiK12821.
    PhylomeDBiQ6NWY9.
    TreeFamiTF318732.

    Family and domain databases

    Gene3Di1.10.10.440. 4 hits.
    InterProiIPR002713. FF_domain.
    IPR001202. WW_dom.
    [Graphical view]
    PfamiPF01846. FF. 2 hits.
    PF00397. WW. 2 hits.
    [Graphical view]
    SMARTiSM00441. FF. 4 hits.
    SM00456. WW. 2 hits.
    [Graphical view]
    SUPFAMiSSF51045. SSF51045. 2 hits.
    SSF81698. SSF81698. 5 hits.
    PROSITEiPS51676. FF. 6 hits.
    PS01159. WW_DOMAIN_1. 1 hit.
    PS50020. WW_DOMAIN_2. 2 hits.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q6NWY9-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MMPPPFMPPP GIPPPFPPMG LPPMSQRPPA IPPMPPGILP PMLPPMGAPP    50
    PLTQIPGMVP PMMPGMLMPA VPVTAATAPG ADTASSAVAG TGPPRALWSE 100
    HVAPDGRIYY YNADDKQSVW EKPSVLKSKA ELLLSQCPWK EYKSDTGKPY 150
    YYNNQSKESR WTRPKDLDDL EVLVKQEAAG KQQQQLPQTL QPQPPQPQPD 200
    PPPVPPGPTP VPTGLLEPEP GGSEDCDVLE ATQPLEQGFL QQLEEGPSSS 250
    GQHQPQQEEE ESKPEPERSG LSWSNREKAK QAFKELLRDK AVPSNASWEQ 300
    AMKMVVTDPR YSALPKLSEK KQAFNAYKAQ REKEEKEEAR LRAKEAKQTL 350
    QHFLEQHERM TSTTRYRRAE QTFGELEVWA VVPERDRKEV YDDVLFFLAK 400
    KEKEQAKQLR RRNIQALKSI LDGMSSVNFQ TTWSQAQQYL MDNPSFAQDH 450
    QLQNMDKEDA LICFEEHIRA LEREEEEERE RARLRERRQQ RKNREAFQTF 500
    LDELHETGQL HSMSTWMELY PAVSTDVRFA NMLGQPGSTP LDLFKFYVEE 550
    LKARFHDEKK IIKDILKDRG FCVEVNTAFE DFAHVISFDK RAAALDAGNI 600
    KLTFNSLLEK AEAREREREK EEARRMRRRE AAFRSMLRQA VPALELGTAW 650
    EEVRERFVCD SAFEQITLES ERIRLFREFL QVLEQTECQH LHTKGRKHGR 700
    KGKKHHHKRS HSPSGSESEE EELPPPSLRP PKRRRRNPSE SGSEPSSSLD 750
    SVESGGAALG GRGSPSSHLL GADHGLRKAK KPKKKTKKRR HKSNSPESET 800
    DPEEKAGKES DEKEQEQDKD RELQQAELPN RSPGFGIKKE KTGWDTSESE 850
    LSEGELERRR RTLLQQLDDH Q 871
    Length:871
    Mass (Da):99,358
    Last modified:July 5, 2004 - v1
    Checksum:iBB62C95BEFB9D23A
    GO
    Isoform 2 (identifier: Q6NWY9-2) [UniParc]FASTAAdd to Basket

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

    Show »
    Length:858
    Mass (Da):97,850
    Checksum:i6A34A4D6ADD2E352
    GO
    Isoform 3 (identifier: Q6NWY9-3) [UniParc]FASTAAdd to Basket

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

    Show »
    Length:870
    Mass (Da):99,230
    Checksum:iF71680F3A1A304DF
    GO
    Isoform 4 (identifier: Q6NWY9-4) [UniParc]FASTAAdd to Basket

    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.

    Show »
    Length:195
    Mass (Da):20,892
    Checksum:i7CB0B62D1D447348
    GO

    Sequence cautioni

    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.

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 77MMPPPFM → M in isoform 2. 1 PublicationVSP_029117
    Alternative sequencei1 – 66MMPPPF → M in isoform 4. 1 PublicationVSP_029116
    Alternative sequencei77 – 200124TAPGA…QPQPD → VSTRGQQVAGSALQSRESDL ECRTMTSILSLFSSHPPRSP AALPTLKSFSPAMYSALLVS HSSPKAYTFSCYSRALSSSL KEHTYPHRATHCGHMNIVLH ILFVPRRVSSTWGSCCAFLC YRSV in isoform 4. 1 PublicationVSP_029120Add
    BLAST
    Alternative sequencei201 – 871671Missing in isoform 4. 1 PublicationVSP_029121Add
    BLAST
    Alternative sequencei568 – 5747Missing in isoform 2. 1 PublicationVSP_029118
    Alternative sequencei685 – 6851Missing in isoform 3. 3 PublicationsVSP_029119

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    PIRiT46402.
    RefSeqiNP_001026868.2. NM_001031698.2.
    UniGeneiHs.706827.

    Genome annotation databases

    EnsembliENST00000261897; ENSP00000261897; ENSG00000110844. [Q6NWY9-2]
    ENST00000380281; ENSP00000369634; ENSG00000110844. [Q6NWY9-1]
    GeneIDi25766.
    KEGGihsa:25766.
    UCSCiuc001ruq.2. human. [Q6NWY9-2]
    uc001rur.2. human. [Q6NWY9-1]
    uc001rus.2. human. [Q6NWY9-3]

    Polymorphism databases

    DMDMi74736936.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    PIRi T46402.
    RefSeqi NP_001026868.2. NM_001031698.2.
    UniGenei Hs.706827.

    3D structure databases

    ProteinModelPortali Q6NWY9.
    SMRi Q6NWY9. Positions 80-173, 273-328, 626-690.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 117305. 3 interactions.
    MINTi MINT-1537769.
    STRINGi 9606.ENSP00000369634.

    PTM databases

    PhosphoSitei Q6NWY9.

    Polymorphism databases

    DMDMi 74736936.

    Proteomic databases

    MaxQBi Q6NWY9.
    PaxDbi Q6NWY9.
    PRIDEi Q6NWY9.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000261897 ; ENSP00000261897 ; ENSG00000110844 . [Q6NWY9-2 ]
    ENST00000380281 ; ENSP00000369634 ; ENSG00000110844 . [Q6NWY9-1 ]
    GeneIDi 25766.
    KEGGi hsa:25766.
    UCSCi uc001ruq.2. human. [Q6NWY9-2 ]
    uc001rur.2. human. [Q6NWY9-1 ]
    uc001rus.2. human. [Q6NWY9-3 ]

    Organism-specific databases

    CTDi 25766.
    GeneCardsi GC12P049963.
    HGNCi HGNC:25031. PRPF40B.
    HPAi HPA038426.
    HPA038599.
    neXtProti NX_Q6NWY9.
    PharmGKBi PA143485582.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5104.
    HOVERGENi HBG059634.
    InParanoidi Q6NWY9.
    KOi K12821.
    PhylomeDBi Q6NWY9.
    TreeFami TF318732.

    Enzyme and pathway databases

    SignaLinki Q6NWY9.

    Miscellaneous databases

    ChiTaRSi PRPF40B. human.
    GeneWikii PRPF40B.
    GenomeRNAii 25766.
    NextBioi 46887.
    PROi Q6NWY9.

    Gene expression databases

    ArrayExpressi Q6NWY9.
    Bgeei Q6NWY9.
    CleanExi HS_PRPF40B.
    Genevestigatori Q6NWY9.

    Family and domain databases

    Gene3Di 1.10.10.440. 4 hits.
    InterProi IPR002713. FF_domain.
    IPR001202. WW_dom.
    [Graphical view ]
    Pfami PF01846. FF. 2 hits.
    PF00397. WW. 2 hits.
    [Graphical view ]
    SMARTi SM00441. FF. 4 hits.
    SM00456. WW. 2 hits.
    [Graphical view ]
    SUPFAMi SSF51045. SSF51045. 2 hits.
    SSF81698. SSF81698. 5 hits.
    PROSITEi PS51676. FF. 6 hits.
    PS01159. WW_DOMAIN_1. 1 hit.
    PS50020. WW_DOMAIN_2. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 419-871 (ISOFORM 3).
      Tissue: Testis.
    3. 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. 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].

    Entry informationi

    Entry nameiPR40B_HUMAN
    AccessioniPrimary (citable) accession number: Q6NWY9
    Secondary accession number(s): O75401
    , Q6PI09, Q6ZWB3, Q8NCZ1, Q9H5G4, Q9NT95
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 13, 2007
    Last sequence update: July 5, 2004
    Last modified: October 1, 2014
    This is version 91 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 12
      Human chromosome 12: entries, gene names and cross-references to MIM
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3