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Q6NWY9

- PR40B_HUMAN

UniProt

Q6NWY9 - PR40B_HUMAN

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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

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
Complete GO annotation...

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. nucleus Source: UniProtKB-KW
Complete GO annotation...

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

BgeeiQ6NWY9.
CleanExiHS_PRPF40B.
ExpressionAtlasiQ6NWY9. baseline.
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.
GeneTreeiENSGT00740000115182.
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

        10         20         30         40         50
MMPPPFMPPP GIPPPFPPMG LPPMSQRPPA IPPMPPGILP PMLPPMGAPP
60 70 80 90 100
PLTQIPGMVP PMMPGMLMPA VPVTAATAPG ADTASSAVAG TGPPRALWSE
110 120 130 140 150
HVAPDGRIYY YNADDKQSVW EKPSVLKSKA ELLLSQCPWK EYKSDTGKPY
160 170 180 190 200
YYNNQSKESR WTRPKDLDDL EVLVKQEAAG KQQQQLPQTL QPQPPQPQPD
210 220 230 240 250
PPPVPPGPTP VPTGLLEPEP GGSEDCDVLE ATQPLEQGFL QQLEEGPSSS
260 270 280 290 300
GQHQPQQEEE ESKPEPERSG LSWSNREKAK QAFKELLRDK AVPSNASWEQ
310 320 330 340 350
AMKMVVTDPR YSALPKLSEK KQAFNAYKAQ REKEEKEEAR LRAKEAKQTL
360 370 380 390 400
QHFLEQHERM TSTTRYRRAE QTFGELEVWA VVPERDRKEV YDDVLFFLAK
410 420 430 440 450
KEKEQAKQLR RRNIQALKSI LDGMSSVNFQ TTWSQAQQYL MDNPSFAQDH
460 470 480 490 500
QLQNMDKEDA LICFEEHIRA LEREEEEERE RARLRERRQQ RKNREAFQTF
510 520 530 540 550
LDELHETGQL HSMSTWMELY PAVSTDVRFA NMLGQPGSTP LDLFKFYVEE
560 570 580 590 600
LKARFHDEKK IIKDILKDRG FCVEVNTAFE DFAHVISFDK RAAALDAGNI
610 620 630 640 650
KLTFNSLLEK AEAREREREK EEARRMRRRE AAFRSMLRQA VPALELGTAW
660 670 680 690 700
EEVRERFVCD SAFEQITLES ERIRLFREFL QVLEQTECQH LHTKGRKHGR
710 720 730 740 750
KGKKHHHKRS HSPSGSESEE EELPPPSLRP PKRRRRNPSE SGSEPSSSLD
760 770 780 790 800
SVESGGAALG GRGSPSSHLL GADHGLRKAK KPKKKTKKRR HKSNSPESET
810 820 830 840 850
DPEEKAGKES DEKEQEQDKD RELQQAELPN RSPGFGIKKE KTGWDTSESE
860 870
LSEGELERRR RTLLQQLDDH Q
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.
GeneTreei ENSGT00740000115182.
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

Bgeei Q6NWY9.
CleanExi HS_PRPF40B.
ExpressionAtlasi Q6NWY9. baseline.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 92 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