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UniProtKB - Q6NWY9 (PR40B_HUMAN)

Protein

Pre-mRNA-processing factor 40 homolog B

Gene

PRPF40B

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

Functioni

May be involved in pre-mRNA splicing.1 Publication

GO - Molecular functioni

  • RNA binding Source: GO_Central
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Biological processmRNA 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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000110844.13
HGNCiHGNC:25031 PRPF40B
neXtProtiNX_Q6NWY9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi25766
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
Cross-linki175Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
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
ProteomicsDBi66741
66742 [Q6NWY9-2]
66743 [Q6NWY9-3]
66744 [Q6NWY9-4]

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 Expressed in 148 organ(s), highest expression level in left lobe of thyroid gland
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
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

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0152 Eukaryota
COG5104 LUCA
GeneTreeiENSGT00930000150980
HOVERGENiHBG059634
InParanoidiQ6NWY9
KOiK12821
PhylomeDBiQ6NWY9
TreeFamiTF318732

Family and domain databases

CDDicd00201 WW, 2 hits
Gene3Di1.10.10.440, 5 hits
InterProiView protein in InterPro
IPR002713 FF_domain
IPR036517 FF_domain_sf
IPR039726 Prp40/Urn1
IPR001202 WW_dom
IPR036020 WW_dom_sf
PANTHERiPTHR11864 PTHR11864, 1 hit
PfamiView protein in Pfam
PF01846 FF, 2 hits
PF00397 WW, 2 hits
SMARTiView protein in SMART
SM00441 FF, 4 hits
SM00456 WW, 2 hits
SUPFAMiSSF51045 SSF51045, 2 hits
SSF81698 SSF81698, 5 hits
PROSITEiView protein in PROSITE
PS51676 FF, 6 hits
PS01159 WW_DOMAIN_1, 1 hit
PS50020 WW_DOMAIN_2, 2 hits

Sequences (4+)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8VU11F8VU11_HUMAN
PRP40 pre-mRNA processing factor 40...
PRPF40B hCG_20201
892Annotation score:
H0YII7H0YII7_HUMAN
Pre-mRNA-processing factor 40 homol...
PRPF40B
137Annotation score:

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
CCDSiCCDS86298.1 [Q6NWY9-1]
PIRiT46402
RefSeqiNP_001026868.2, NM_001031698.2
NP_036404.1, NM_012272.2 [Q6NWY9-2]
XP_011536443.1, XM_011538141.1
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

Similar proteinsi

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
CCDSiCCDS86298.1 [Q6NWY9-1]
PIRiT46402
RefSeqiNP_001026868.2, NM_001031698.2
NP_036404.1, NM_012272.2 [Q6NWY9-2]
XP_011536443.1, XM_011538141.1
UniGeneiHs.706827

3D structure databases

ProteinModelPortaliQ6NWY9
SMRiQ6NWY9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117305, 12 interactors
IntActiQ6NWY9, 4 interactors
STRINGi9606.ENSP00000369634

PTM databases

iPTMnetiQ6NWY9
PhosphoSitePlusiQ6NWY9

Polymorphism and mutation databases

BioMutaiPRPF40B
DMDMi74736936

Proteomic databases

EPDiQ6NWY9
MaxQBiQ6NWY9
PaxDbiQ6NWY9
PeptideAtlasiQ6NWY9
PRIDEiQ6NWY9
ProteomicsDBi66741
66742 [Q6NWY9-2]
66743 [Q6NWY9-3]
66744 [Q6NWY9-4]

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
DisGeNETi25766
EuPathDBiHostDB:ENSG00000110844.13
GeneCardsiPRPF40B
HGNCiHGNC:25031 PRPF40B
HPAiHPA038426
HPA038599
neXtProtiNX_Q6NWY9
OpenTargetsiENSG00000110844
PharmGKBiPA143485582
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0152 Eukaryota
COG5104 LUCA
GeneTreeiENSGT00930000150980
HOVERGENiHBG059634
InParanoidiQ6NWY9
KOiK12821
PhylomeDBiQ6NWY9
TreeFamiTF318732

Enzyme and pathway databases

SignaLinkiQ6NWY9

Miscellaneous databases

ChiTaRSiPRPF40B human
GeneWikiiPRPF40B
GenomeRNAii25766
PROiPR:Q6NWY9

Gene expression databases

BgeeiENSG00000110844 Expressed in 148 organ(s), highest expression level in left lobe of thyroid gland
CleanExiHS_PRPF40B
ExpressionAtlasiQ6NWY9 baseline and differential
GenevisibleiQ6NWY9 HS

Family and domain databases

CDDicd00201 WW, 2 hits
Gene3Di1.10.10.440, 5 hits
InterProiView protein in InterPro
IPR002713 FF_domain
IPR036517 FF_domain_sf
IPR039726 Prp40/Urn1
IPR001202 WW_dom
IPR036020 WW_dom_sf
PANTHERiPTHR11864 PTHR11864, 1 hit
PfamiView protein in Pfam
PF01846 FF, 2 hits
PF00397 WW, 2 hits
SMARTiView protein in SMART
SM00441 FF, 4 hits
SM00456 WW, 2 hits
SUPFAMiSSF51045 SSF51045, 2 hits
SSF81698 SSF81698, 5 hits
PROSITEiView protein in PROSITE
PS51676 FF, 6 hits
PS01159 WW_DOMAIN_1, 1 hit
PS50020 WW_DOMAIN_2, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiPR40B_HUMAN
AccessioniPrimary (citable) accession number: Q6NWY9
Secondary accession number(s): O75401
, Q6PI09, Q6ZWB3, Q8NCZ1, Q9H5G4, Q9NT95
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 13, 2007
Last sequence update: July 5, 2004
Last modified: November 7, 2018
This is version 122 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
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