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PUF60 (poly(U) binding splicing factor 60)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
22827
Gene nameGene Name - the full gene name approved by the HGNC.
Poly(U) binding splicing factor 60
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
PUF60
SynonymsGene synonyms aliases
FIR, RoBPI, SIAHBP1, VRJS
ChromosomeChromosome number
8
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q24.3
SummarySummary of gene provided in NCBI Entrez Gene.
This gene encodes a nucleic acid-binding protein that plays a role in a variety of nuclear processes, including pre-mRNA splicing and transcriptional regulation. The encoded protein forms a complex with the far upstream DNA element (FUSE) and FUSE-binding
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs398123001 G>A Pathogenic Coding sequence variant, missense variant
rs886041995 C>T Pathogenic Stop gained, coding sequence variant
rs1057518046 ->C Likely-pathogenic Frameshift variant, coding sequence variant
rs1085307135 C>T Likely-pathogenic, pathogenic, uncertain-significance Missense variant, coding sequence variant
rs1085307137 C>T Likely-pathogenic Missense variant, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT042259 hsa-miR-484 CLASH 23622248
MIRT038851 hsa-miR-93-3p CLASH 23622248
MIRT439856 hsa-miR-218-5p HITS-CLIP 23212916
MIRT439856 hsa-miR-218-5p HITS-CLIP 23212916
MIRT1276851 hsa-miR-103a CLIP-seq
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0000380 Process Alternative mRNA splicing, via spliceosome IBA 21873635
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome IBA 21873635
GO:0000398 Process MRNA splicing, via spliceosome TAS
GO:0003677 Function DNA binding IEA
GO:0003723 Function RNA binding HDA 22658674, 22681889
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9UHX1
Protein name Poly(U)-binding-splicing factor PUF60 (60 kDa poly(U)-binding-splicing factor) (FUSE-binding protein-interacting repressor) (FBP-interacting repressor) (Ro-binding protein 1) (RoBP1) (Siah-binding protein 1) (Siah-BP1)
Protein function DNA- and RNA-binding protein, involved in several nuclear processes such as pre-mRNA splicing, apoptosis and transcription regulation. In association with FUBP1 regulates MYC transcription at the P2 promoter through the core-TFIIH basal transcri
PDB 2DNY , 2KXF , 2KXH , 2QFJ , 3DXB , 3UE2 , 3US5 , 3UWT , 5KVY , 5KW1 , 5KW6 , 5KWQ , 6LUR , 6SLO , 7Q8A , 7Z3X
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1
131 → 201
RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)
 Domain
PF00076 RRM_1
228 → 298
RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)
 Domain
Sequence 
MATATIALQVNGQQGGGSEPAAAAAVVAAGDKWKPPQGTDSIKMENGQSTAAKLGLPPLT
PEQQEALQKAKKYAMEQSIKSVLVKQTIAHQQQQLTNLQMAAVTMGFGDPLSPLQSMAAQ
RQRALAIMCRVYVGSIYYELGEDTIRQAFAPFGPIKSIDMSWDSVTMKHKGFAFVEYEVP
EAAQLALEQMNSVMLGGRNIKVGRPSNIGQAQPIIDQLAEEARAFNRIYVASVHQDLSDD
DIKSVFEAFGKIKSCTLARDPTTGKHKGYGFIEYEKAQSSQDAVSSMNLFDLGGQYLRVG
KAVTPPMPLLTPATPGGLPPAAAVAAAAATAKITAQEAVAGAAVLGTLGTPGLVSPALTL
AQPLGTLPQAVMAAQAPGVITGVTPARPPIPVTIPSVGVVNPILASPPTLGLLEPKKEKE
EEELFPESERPEMLSEQEHMSISGSSARHMVMQKLLRKQESTVMVLRNMVDPKDIDDDLE
GEVTEECGKFGAVNRVIIYQEKQGEEEDAEIIVKIFVEFSIASETHKAIQALNGRWFAGR
KVVAEVYDQERFDNSDLSA
Sequence length 559
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  Spliceosome   mRNA Splicing - Major Pathway
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
8q24.3 microdeletion syndrome 8q24.3 microdeletion syndrome rs398123001, rs1057518681, rs1554643142, rs1085307135, rs1131692232, rs1554643584, rs1554643099, rs1554642573, rs1554643473, rs1554642022, rs1563825893, rs1563826453, rs1563819620, rs1563823411, rs1563818514, rs1586555859, rs1586565506, rs1586590135
Atrioventricular septal defect Atrioventricular Septal Defect rs121912626, rs121912627, rs137852683, rs137852686, rs104894073, rs1598737972, rs1057518960, rs774018674, rs1575650682, rs1598737976, rs1188358849, rs2033057699
Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder rs120074176, rs786205019
Congenital ocular coloboma Congenital ocular coloboma (disorder) rs587778875, rs587777249, rs767611891, rs2091986259, rs2091987023, rs2091988799
Unknown
Disease name Disease term dbSNP ID References
Aortic coarctation Aortic coarctation
Bilateral renal hypoplasia Bilateral renal hypoplasia
Branchioma Branchioma
Camptodactyly of fingers Clinodactyly of the 5th finger

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