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Protein

Pre-mRNA-processing factor 40 homolog B

Gene

PRPF40B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May be involved in pre-mRNA splicing.1 Publication

GO - Molecular functioni

GO - Biological processi

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
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:25031. PRPF40B.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000110844.
PharmGKBiPA143485582.

Polymorphism and mutation databases

BioMutaiPRPF40B.
DMDMi74736936.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003092821 – 871Pre-mRNA-processing factor 40 homolog BAdd BLAST871

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei148N6-acetyllysineCombined sources1
Modified residuei764PhosphoserineCombined sources1
Modified residuei832PhosphoserineCombined sources1
Cross-linki838Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei852PhosphoserineBy similarity1

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ6NWY9.
MaxQBiQ6NWY9.
PaxDbiQ6NWY9.
PeptideAtlasiQ6NWY9.
PRIDEiQ6NWY9.

PTM databases

iPTMnetiQ6NWY9.
PhosphoSitePlusiQ6NWY9.

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

BgeeiENSG00000110844.
CleanExiHS_PRPF40B.
ExpressionAtlasiQ6NWY9. baseline and differential.
GenevisibleiQ6NWY9. HS.

Organism-specific databases

HPAiHPA038426.
HPA038599.

Interactioni

Subunit structurei

Interacts with the N-terminus of HD.1 Publication

Protein-protein interaction databases

BioGridi117305. 12 interactors.
IntActiQ6NWY9. 4 interactors.
MINTiMINT-1537769.
STRINGi9606.ENSP00000369634.

Structurei

3D structure databases

ProteinModelPortaliQ6NWY9.
SMRiQ6NWY9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini92 – 125WW 1PROSITE-ProRule annotationAdd BLAST34
Domaini133 – 166WW 2PROSITE-ProRule annotationAdd BLAST34
Domaini276 – 330FF 1Add BLAST55
Domaini340 – 397FF 2Add BLAST58
Domaini410 – 470FF 3Add BLAST61
Domaini490 – 550FF 4Add BLAST61
Domaini554 – 610FF 5Add BLAST57
Domaini625 – 682FF 6Add BLAST58

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi3 – 72Pro-richAdd BLAST70

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

eggNOGiKOG0152. Eukaryota.
COG5104. LUCA.
GeneTreeiENSGT00820000127014.
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. AlignAdd to basket

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 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence BAB15662 differs from that shown. Reason: Frameshift at positions 537 and 851.Curated

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0291171 – 7MMPPPFM → M in isoform 2. 1 Publication7
Alternative sequenceiVSP_0291161 – 6MMPPPF → M in isoform 4. 1 Publication6
Alternative sequenceiVSP_02912077 – 200TAPGA…QPQPD → VSTRGQQVAGSALQSRESDL ECRTMTSILSLFSSHPPRSP AALPTLKSFSPAMYSALLVS HSSPKAYTFSCYSRALSSSL KEHTYPHRATHCGHMNIVLH ILFVPRRVSSTWGSCCAFLC YRSV in isoform 4. 1 PublicationAdd BLAST124
Alternative sequenceiVSP_029121201 – 871Missing in isoform 4. 1 PublicationAdd BLAST671
Alternative sequenceiVSP_029118568 – 574Missing in isoform 2. 1 Publication7
Alternative sequenceiVSP_029119685Missing in isoform 3. 3 Publications1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.
NP_036404.1. NM_012272.2. [Q6NWY9-2]
XP_011536443.1. XM_011538141.1. [Q6NWY9-1]
UniGeneiHs.706827.

Genome annotation databases

EnsembliENST00000261897; ENSP00000261897; ENSG00000110844. [Q6NWY9-2]
ENST00000380281; ENSP00000369634; ENSG00000110844. [Q6NWY9-1]
GeneIDi25766.
KEGGihsa:25766.
UCSCiuc058nrq.1. human. [Q6NWY9-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.
NP_036404.1. NM_012272.2. [Q6NWY9-2]
XP_011536443.1. XM_011538141.1. [Q6NWY9-1]
UniGeneiHs.706827.

3D structure databases

ProteinModelPortaliQ6NWY9.
SMRiQ6NWY9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117305. 12 interactors.
IntActiQ6NWY9. 4 interactors.
MINTiMINT-1537769.
STRINGi9606.ENSP00000369634.

PTM databases

iPTMnetiQ6NWY9.
PhosphoSitePlusiQ6NWY9.

Polymorphism and mutation databases

BioMutaiPRPF40B.
DMDMi74736936.

Proteomic databases

EPDiQ6NWY9.
MaxQBiQ6NWY9.
PaxDbiQ6NWY9.
PeptideAtlasiQ6NWY9.
PRIDEiQ6NWY9.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000261897; ENSP00000261897; ENSG00000110844. [Q6NWY9-2]
ENST00000380281; ENSP00000369634; ENSG00000110844. [Q6NWY9-1]
GeneIDi25766.
KEGGihsa:25766.
UCSCiuc058nrq.1. human. [Q6NWY9-1]

Organism-specific databases

CTDi25766.
GeneCardsiPRPF40B.
HGNCiHGNC:25031. PRPF40B.
HPAiHPA038426.
HPA038599.
neXtProtiNX_Q6NWY9.
OpenTargetsiENSG00000110844.
PharmGKBiPA143485582.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0152. Eukaryota.
COG5104. LUCA.
GeneTreeiENSGT00820000127014.
HOVERGENiHBG059634.
InParanoidiQ6NWY9.
KOiK12821.
PhylomeDBiQ6NWY9.
TreeFamiTF318732.

Enzyme and pathway databases

SignaLinkiQ6NWY9.

Miscellaneous databases

ChiTaRSiPRPF40B. human.
GeneWikiiPRPF40B.
GenomeRNAii25766.
PROiQ6NWY9.

Gene expression databases

BgeeiENSG00000110844.
CleanExiHS_PRPF40B.
ExpressionAtlasiQ6NWY9. baseline and differential.
GenevisibleiQ6NWY9. HS.

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]
ProtoNetiSearch...

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: November 30, 2016
This is version 112 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.