PUF60

PUF60
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2DNY, 2KXF, 2KXH, 2QFJ, 3DXB, 3UE2, 3US5, 3UWT
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; HomoloGene: 8614; GeneCards: PUF60; OMA:PUF60 - orthologs
Gene location (Human)
Chr.	Chromosome 8 (human)
End	143,829,352 bp
Gene location (Mouse)
Chr.	Chromosome 15 (mouse)
End	75,952,773 bp
RNA expression pattern
	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
	; ;
	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
	22827
	67959
	ENSG00000179950; ENSG00000274081
	ENSMUSG00000002524
	Q9UHX1
	Q3UEB3
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
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
	Wikidata
View/Edit Human	View/Edit Mouse

Poly(U)-binding-splicing factor PUF60 is a protein that in humans is encoded by the PUF60 gene.

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.