PUF60

Poly(U)-binding-splicing factor PUF60 is a protein that in humans is encoded by the PUF60 gene.^[5][6][7][8]

AliasesPUF60, FIR, RoBPI, SIAHBP1, VRJS, poly(U) binding splicing factor 60KDa, poly(U) binding splicing factor 60

External IDsOMIM: 604819; MGI: 1915209; GeneCards: PUF60

PDBOrtholog search: PDBe RCSB

Chr.Chromosome 8 (human)^[1]

Quick facts Identifiers, Aliases ...

PUF60
Identifiers
Aliases	PUF60, FIR, RoBPI, SIAHBP1, VRJS, poly(U) binding splicing factor 60KDa, poly(U) binding splicing factor 60
External IDs	OMIM: 604819; MGI: 1915209; GeneCards: PUF60
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2DNY, 2KXF, 2KXH, 2QFJ, 3DXB, 3UE2, 3US5, 3UWT
Gene location (Human) Chr. Chromosome 8 (human)[1] Band 8q24.3 Start 143,816,344 bp[1] End 143,829,352 bp[1]
Gene location (Mouse) Chr. Chromosome 15 (mouse)[2] Band 15|15 D3 Start 75,942,031 bp[2] End 75,952,773 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ventricular zone right uterine tube ganglionic eminence tibial nerve prefrontal cortex substantia nigra C1 segment skin of leg apex of heart putamen Top expressed in mandibular prominence maxillary prominence somite Gonadal ridge neural layer of retina vestibular sensory epithelium supraoptic nucleus ventricular zone internal carotid artery external carotid artery More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleic acid binding DNA binding protein binding identical protein binding RNA binding cadherin binding Cellular component cell junction cyclin-dependent protein kinase activating kinase holoenzyme complex nucleus nucleoplasm Biological process mRNA processing regulation of transcription, DNA-templated transcription, DNA-templated RNA splicing apoptotic process mRNA splicing, via spliceosome Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 22827 67959 Ensembl ENSG00000179950 ENSG00000274081 ENSMUSG00000002524 UniProt Q9UHX1 Q3UEB3 RefSeq (mRNA) NM_001136033 NM_001271096 NM_001271097 NM_001271098 NM_001271099 NM_001271100 NM_014281 NM_078480 NM_001362895 NM_001362896 NM_001362897 NM_001164600 NM_028364 NM_133691 NM_001356629 NM_001378984 NM_001378985 NM_001378986 RefSeq (protein) NP_001129505 NP_001258025 NP_001258026 NP_001258027 NP_001258028 NP_001258029 NP_055096 NP_510965 NP_001349824 NP_001349825 NP_001349826 NP_001158072 NP_082640 NP_598452 NP_001343558 NP_001365913 NP_001365914 NP_001365915 NP_001389972 NP_001389973 NP_001389974 NP_001389975 Location (UCSC) Chr 8: 143.82 – 143.83 Mb Chr 15: 75.94 – 75.95 Mb PubMed search [3] [4]
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The protein encoded by this gene is a Ro RNP-binding protein. It interacts with Ro RNPs and their interaction is thought to represent a gain of function for Ro RNPs. This protein also forms a ternary complex with far upstream element (FUSE) and FUSE-binding protein. It can repress a c-myc reporter via the FUSE. It is also known to target transcription factor IIH and inhibit activated transcription. This gene is implicated in the xeroderma pigmentosum disorder. There are two alternatively spliced transcript variants of this gene encoding different isoforms. There seems to be evidence of multiple polyadenylation sites for this gene.^[8]

Mutations in the PUF60 gene may cause Verheij syndrome, which was first described in 2009 and manifests with growth retardation, delayed psychomotor development, dysmorphic facial features, and skeletal, mainly vertebral, abnormalities.