UniProtKB - Q9UHX1 (PUF60_HUMAN)
Poly(U)-binding-splicing factor PUF60
PUF60
Functioni
Miscellaneous
GO - Molecular functioni
- cadherin binding Source: BHF-UCL
- DNA binding Source: UniProtKB-KW
- identical protein binding Source: IntAct
- RNA binding Source: UniProtKB
GO - Biological processi
- alternative mRNA splicing, via spliceosome Source: GO_Central
- apoptotic process Source: UniProtKB-KW
- mRNA splice site selection Source: GO_Central
- mRNA splicing, via spliceosome Source: Reactome
- regulation of alternative mRNA splicing, via spliceosome Source: GO_Central
Keywordsi
Molecular function | DNA-binding, Repressor, Ribonucleoprotein, RNA-binding |
Biological process | Apoptosis, mRNA processing, mRNA splicing, Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q9UHX1 |
Reactomei | R-HSA-72163, mRNA Splicing - Major Pathway |
Names & Taxonomyi
Protein namesi | Recommended name: Poly(U)-binding-splicing factor PUF60Alternative name(s): 60 kDa poly(U)-binding-splicing factor FUSE-binding protein-interacting repressor Short name: FBP-interacting repressor Ro-binding protein 1 Short name: RoBP1 Siah-binding protein 1 Short name: Siah-BP1 |
Gene namesi | Name:PUF60 Synonyms:FIR, ROBPI, SIAHBP1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:17042, PUF60 |
MIMi | 604819, gene |
neXtProti | NX_Q9UHX1 |
VEuPathDBi | HostDB:ENSG00000179950.13 |
Subcellular locationi
Nucleus
- Nucleus 2 Publications
Note: Colocalizes partially with TROVE2.
Nucleus
- nucleoplasm Source: HPA
Other locations
- cell junction Source: HPA
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Verheij syndrome (VRJS)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_070939 | 169 | H → Y in VRJS; loss of function mutation; results in altered dosage of different PUF60 protein forms and abnormal splicing profile of several target genes. 1 PublicationCorresponds to variant dbSNP:rs398123001EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 22827 |
MalaCardsi | PUF60 |
MIMi | 615583, phenotype |
OpenTargetsi | ENSG00000179950 |
Orphaneti | 508488, 8q24.3 microdeletion syndrome 508498, Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome |
PharmGKBi | PA162400364 |
Miscellaneous databases
Pharosi | Q9UHX1, Tbio |
Genetic variation databases
BioMutai | PUF60 |
DMDMi | 74761960 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000299519 | 1 – 559 | Poly(U)-binding-splicing factor PUF60Add BLAST | 559 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Cross-linki | 43 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | |||
Modified residuei | 60 | PhosphothreonineCombined sources | 1 | ||
Cross-linki | 80 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | |||
Modified residuei | 112 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 244 | PhosphoserineBy similarity | 1 | ||
Modified residuei | 251 | N6-acetyllysineCombined sources | 1 | ||
Modified residuei | 314 | PhosphothreonineCombined sources | 1 | ||
Cross-linki | 419 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | |||
Modified residuei | 454 | N6-acetyllysineCombined sources | 1 | ||
Cross-linki | 458 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | |||
Isoform 5 (identifier: Q9UHX1-5) | |||||
Cross-linki | 14 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | |||
Isoform 6 (identifier: Q9UHX1-6) | |||||
Cross-linki | 14 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources |
Keywords - PTMi
Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q9UHX1 |
jPOSTi | Q9UHX1 |
MassIVEi | Q9UHX1 |
PaxDbi | Q9UHX1 |
PeptideAtlasi | Q9UHX1 |
PRIDEi | Q9UHX1 |
ProteomicsDBi | 84428 [Q9UHX1-1] 84429 [Q9UHX1-2] 84430 [Q9UHX1-3] 84431 [Q9UHX1-4] 84432 [Q9UHX1-5] 84433 [Q9UHX1-6] |
TopDownProteomicsi | Q9UHX1-3 [Q9UHX1-3] |
PTM databases
iPTMneti | Q9UHX1 |
MetOSitei | Q9UHX1 |
PhosphoSitePlusi | Q9UHX1 |
SwissPalmi | Q9UHX1 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000179950, Expressed in stomach and 246 other tissues |
ExpressionAtlasi | Q9UHX1, baseline and differential |
Genevisiblei | Q9UHX1, HS |
Organism-specific databases
HPAi | ENSG00000179950, Low tissue specificity |
Interactioni
Subunit structurei
Homodimer. Associates with the spliceosome.
Found in a complex with TROVE2 and Y5 RNA.
Found in a complex with FUBP1 and far upstream element (FUSE) DNA segment.
Interacts directly with ERCC3.
Interacts with CDK7, GTF2H1 and SFRS11. Does not interact with ERCC3 in xeroderma pigmentosum complementation group B (XPB) cells.
5 PublicationsBinary interactionsi
Hide detailsQ9UHX1
PUF60 - isoform 2 [Q9UHX1-2]
Isoform 5 [Q9UHX1-5]
With | #Exp. | IntAct |
---|---|---|
KHDC4 - isoform 4 [Q7Z7F0-4] | 3 | EBI-11526420,EBI-9089060 |
Isoform 6 [Q9UHX1-6]
With | #Exp. | IntAct |
---|---|---|
HTT [P42858] | 9 | EBI-11085298,EBI-466029 |
KHDC4 - isoform 4 [Q7Z7F0-4] | 3 | EBI-11085298,EBI-9089060 |
GO - Molecular functioni
- cadherin binding Source: BHF-UCL
- identical protein binding Source: IntAct
Protein-protein interaction databases
BioGRIDi | 116502, 252 interactors |
CORUMi | Q9UHX1 |
DIPi | DIP-34636N |
ELMi | Q9UHX1 |
IntActi | Q9UHX1, 73 interactors |
MINTi | Q9UHX1 |
STRINGi | 9606.ENSP00000434359 |
Miscellaneous databases
RNActi | Q9UHX1, protein |
Structurei
Secondary structure
3D structure databases
BMRBi | Q9UHX1 |
SMRi | Q9UHX1 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q9UHX1 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 129 – 207 | RRM 1PROSITE-ProRule annotationAdd BLAST | 79 | |
Domaini | 226 – 304 | RRM 2PROSITE-ProRule annotationAdd BLAST | 79 | |
Domaini | 462 – 549 | RRM 3; atypicalPROSITE-ProRule annotationAdd BLAST | 88 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 516 | Inhibits homodimerizationAdd BLAST | 516 | |
Regioni | 77 – 559 | Inhibits transcriptional repression, interaction with ERCC3 and apoptosis inductionAdd BLAST | 483 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 321 – 343 | Ala-richAdd BLAST | 23 |
Domaini
Sequence similaritiesi
Keywords - Domaini
RepeatPhylogenomic databases
eggNOGi | KOG0124, Eukaryota |
GeneTreei | ENSGT00940000155594 |
HOGENOMi | CLU_020551_3_1_1 |
InParanoidi | Q9UHX1 |
OMAi | QMNGVML |
OrthoDBi | 861359at2759 |
PhylomeDBi | Q9UHX1 |
TreeFami | TF313987 |
Family and domain databases
CDDi | cd12370, RRM1_PUF60, 1 hit cd12371, RRM2_PUF60, 1 hit cd12648, RRM3_UHM_PUF60, 1 hit |
Gene3Di | 3.30.70.330, 3 hits |
InterProi | View protein in InterPro IPR012677, Nucleotide-bd_a/b_plait_sf IPR006532, PolyU-bd IPR034209, PUF60_RRM1 IPR034211, PUF60_RRM2 IPR034212, PUF60_RRM3 IPR035979, RBD_domain_sf IPR000504, RRM_dom IPR003954, RRM_dom_euk |
Pfami | View protein in Pfam PF00076, RRM_1, 2 hits |
SMARTi | View protein in SMART SM00360, RRM, 3 hits SM00361, RRM_1, 2 hits |
SUPFAMi | SSF54928, SSF54928, 2 hits |
TIGRFAMsi | TIGR01645, half-pint, 1 hit |
PROSITEi | View protein in PROSITE PS50102, RRM, 3 hits |
s (6+)i Sequence
Sequence statusi: Complete.
This entry describes 6 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 6 described isoforms and 12 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MATATIALQV NGQQGGGSEP AAAAAVVAAG DKWKPPQGTD SIKMENGQST
60 70 80 90 100
AAKLGLPPLT PEQQEALQKA KKYAMEQSIK SVLVKQTIAH QQQQLTNLQM
110 120 130 140 150
AAVTMGFGDP LSPLQSMAAQ RQRALAIMCR VYVGSIYYEL GEDTIRQAFA
160 170 180 190 200
PFGPIKSIDM SWDSVTMKHK GFAFVEYEVP EAAQLALEQM NSVMLGGRNI
210 220 230 240 250
KVGRPSNIGQ AQPIIDQLAE EARAFNRIYV ASVHQDLSDD DIKSVFEAFG
260 270 280 290 300
KIKSCTLARD PTTGKHKGYG FIEYEKAQSS QDAVSSMNLF DLGGQYLRVG
310 320 330 340 350
KAVTPPMPLL TPATPGGLPP AAAVAAAAAT AKITAQEAVA GAAVLGTLGT
360 370 380 390 400
PGLVSPALTL AQPLGTLPQA VMAAQAPGVI TGVTPARPPI PVTIPSVGVV
410 420 430 440 450
NPILASPPTL GLLEPKKEKE EEELFPESER PEMLSEQEHM SISGSSARHM
460 470 480 490 500
VMQKLLRKQE STVMVLRNMV DPKDIDDDLE GEVTEECGKF GAVNRVIIYQ
510 520 530 540 550
EKQGEEEDAE IIVKIFVEFS IASETHKAIQ ALNGRWFAGR KVVAEVYDQE
RFDNSDLSA
Computationally mapped potential isoform sequencesi
There are 12 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A0J9YVP6 | A0A0J9YVP6_HUMAN | 60 kDa poly(U)-binding-splicing fac... | PUF60 | 534 | Annotation score: | ||
A0A0J9YYL3 | A0A0J9YYL3_HUMAN | 60 kDa poly(U)-binding-splicing fac... | PUF60 | 505 | Annotation score: | ||
A0A0J9YXJ8 | A0A0J9YXJ8_HUMAN | 60 kDa poly(U)-binding-splicing fac... | PUF60 | 522 | Annotation score: | ||
A0A0J9YXX5 | A0A0J9YXX5_HUMAN | 60 kDa poly(U)-binding-splicing fac... | PUF60 | 551 | Annotation score: | ||
E9PQ56 | E9PQ56_HUMAN | 60 kDa poly(U)-binding-splicing fac... | PUF60 | 322 | Annotation score: | ||
H0YEM1 | H0YEM1_HUMAN | 60 kDa poly(U)-binding-splicing fac... | PUF60 | 336 | Annotation score: | ||
A0A0J9YVR6 | A0A0J9YVR6_HUMAN | 60 kDa poly(U)-binding-splicing fac... | PUF60 | 314 | Annotation score: | ||
A0A0J9YWM1 | A0A0J9YWM1_HUMAN | 60 kDa poly(U)-binding-splicing fac... | PUF60 | 329 | Annotation score: | ||
E9PMU7 | E9PMU7_HUMAN | Poly(U)-binding-splicing factor PUF... | PUF60 | 247 | Annotation score: | ||
E9PN18 | E9PN18_HUMAN | Poly(U)-binding-splicing factor PUF... | PUF60 | 263 | Annotation score: | ||
There are more potential isoformsShow all |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 3 | T → R in AAB41656 (Ref. 7) Curated | 1 | |
Sequence conflicti | 123 | R → G in AAB41656 (Ref. 7) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_070939 | 169 | H → Y in VRJS; loss of function mutation; results in altered dosage of different PUF60 protein forms and abnormal splicing profile of several target genes. 1 PublicationCorresponds to variant dbSNP:rs398123001EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_027717 | 1 – 43 | Missing in isoform 3 and isoform 4. 1 PublicationAdd BLAST | 43 | |
Alternative sequenceiVSP_027718 | 9 – 37 | Missing in isoform 5 and isoform 6. CuratedAdd BLAST | 29 | |
Alternative sequenceiVSP_027719 | 101 – 117 | Missing in isoform 2, isoform 4 and isoform 6. 3 PublicationsAdd BLAST | 17 |
Sequence databases
Genome annotation databases
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2DNY | NMR | - | A | 454-559 | [»] | |
2KXF | NMR | - | A | 119-314 | [»] | |
2KXH | NMR | - | A | 119-314 | [»] | |
2QFJ | X-ray | 2.10 | A/B | 118-316 | [»] | |
3DXB | X-ray | 2.20 | A/B/C/D/E/F/G/H | 460-559 | [»] | |
3UE2 | X-ray | 1.23 | A | 443-559 | [»] | |
3US5 | X-ray | 1.38 | A | 443-559 | [»] | |
3UWT | X-ray | 2.50 | A | 118-316 | [»] | |
5KVY | X-ray | 1.95 | A/B | 118-316 | [»] | |
5KW1 | X-ray | 2.10 | A/B | 118-316 | [»] | |
5KW6 | X-ray | 1.91 | A/B | 118-316 | [»] | |
5KWQ | X-ray | 2.80 | A/B | 118-316 | [»] | |
6LUR | X-ray | 2.00 | A/B/C/D/E/F/G/H | 460-559 | [»] | |
6SLO | X-ray | 1.94 | A/B/C/D | 460-559 | [»] | |
BMRBi | Q9UHX1 | |||||
SMRi | Q9UHX1 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 116502, 252 interactors |
CORUMi | Q9UHX1 |
DIPi | DIP-34636N |
ELMi | Q9UHX1 |
IntActi | Q9UHX1, 73 interactors |
MINTi | Q9UHX1 |
STRINGi | 9606.ENSP00000434359 |
PTM databases
iPTMneti | Q9UHX1 |
MetOSitei | Q9UHX1 |
PhosphoSitePlusi | Q9UHX1 |
SwissPalmi | Q9UHX1 |
Genetic variation databases
BioMutai | PUF60 |
DMDMi | 74761960 |
Proteomic databases
EPDi | Q9UHX1 |
jPOSTi | Q9UHX1 |
MassIVEi | Q9UHX1 |
PaxDbi | Q9UHX1 |
PeptideAtlasi | Q9UHX1 |
PRIDEi | Q9UHX1 |
ProteomicsDBi | 84428 [Q9UHX1-1] 84429 [Q9UHX1-2] 84430 [Q9UHX1-3] 84431 [Q9UHX1-4] 84432 [Q9UHX1-5] 84433 [Q9UHX1-6] |
TopDownProteomicsi | Q9UHX1-3 [Q9UHX1-3] |
Protocols and materials databases
Antibodypediai | 28098, 424 antibodies |
Genome annotation databases
Organism-specific databases
CTDi | 22827 |
DisGeNETi | 22827 |
GeneCardsi | PUF60 |
HGNCi | HGNC:17042, PUF60 |
HPAi | ENSG00000179950, Low tissue specificity |
MalaCardsi | PUF60 |
MIMi | 604819, gene 615583, phenotype |
neXtProti | NX_Q9UHX1 |
OpenTargetsi | ENSG00000179950 |
Orphaneti | 508488, 8q24.3 microdeletion syndrome 508498, Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome |
PharmGKBi | PA162400364 |
VEuPathDBi | HostDB:ENSG00000179950.13 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0124, Eukaryota |
GeneTreei | ENSGT00940000155594 |
HOGENOMi | CLU_020551_3_1_1 |
InParanoidi | Q9UHX1 |
OMAi | QMNGVML |
OrthoDBi | 861359at2759 |
PhylomeDBi | Q9UHX1 |
TreeFami | TF313987 |
Enzyme and pathway databases
PathwayCommonsi | Q9UHX1 |
Reactomei | R-HSA-72163, mRNA Splicing - Major Pathway |
Miscellaneous databases
BioGRID-ORCSi | 22827, 771 hits in 885 CRISPR screens |
ChiTaRSi | PUF60, human |
EvolutionaryTracei | Q9UHX1 |
GeneWikii | PUF60 |
GenomeRNAii | 22827 |
Pharosi | Q9UHX1, Tbio |
PROi | PR:Q9UHX1 |
RNActi | Q9UHX1, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000179950, Expressed in stomach and 246 other tissues |
ExpressionAtlasi | Q9UHX1, baseline and differential |
Genevisiblei | Q9UHX1, HS |
Family and domain databases
CDDi | cd12370, RRM1_PUF60, 1 hit cd12371, RRM2_PUF60, 1 hit cd12648, RRM3_UHM_PUF60, 1 hit |
Gene3Di | 3.30.70.330, 3 hits |
InterProi | View protein in InterPro IPR012677, Nucleotide-bd_a/b_plait_sf IPR006532, PolyU-bd IPR034209, PUF60_RRM1 IPR034211, PUF60_RRM2 IPR034212, PUF60_RRM3 IPR035979, RBD_domain_sf IPR000504, RRM_dom IPR003954, RRM_dom_euk |
Pfami | View protein in Pfam PF00076, RRM_1, 2 hits |
SMARTi | View protein in SMART SM00360, RRM, 3 hits SM00361, RRM_1, 2 hits |
SUPFAMi | SSF54928, SSF54928, 2 hits |
TIGRFAMsi | TIGR01645, half-pint, 1 hit |
PROSITEi | View protein in PROSITE PS50102, RRM, 3 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | PUF60_HUMAN | |
Accessioni | Q9UHX1Primary (citable) accession number: Q9UHX1 Secondary accession number(s): A8K8K8 Q9UJY7 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | September 11, 2007 |
Last sequence update: | May 1, 2000 | |
Last modified: | February 10, 2021 | |
This is version 186 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
3D-structure, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 8
Human chromosome 8: entries, gene names and cross-references to MIM - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human entries with genetic variants
List of human entries with genetic variants