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FLASH GENE

Symbol

PUF60

contributors: mct - updated : 19-06-2018

HGNC name	poly-U binding splicing factor 60KDa
HGNC id	17042

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Reproductive female system ovary     highly   male system testis     highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an N terminal activator-selective repression domain, that binds to TFIIH and suppresses its p89/3prime-5prime helicase activity
	three RNA recognition motifs (RRM)
	C-terminal domain belonging to the family of U2AF (U2 auxiliary factor) homology motifs (UHM), a subgroup of RNA recognition motifs that bind to tryptophan-containing linear peptide motifs (UHM is mainly monomeric in physiological buffer but it can dimerize)

HOMOLOGY

interspecies	homolog to rattus Siahbp1
	ortholog to murine 2410104I19Rik

intraspecies

homolog to U2AF2

Homologene

FAMILY

RRM half pint family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	plasma membrane,junction
	intracellular
	intracellular,nucleus,nucleoplasm

basic FUNCTION	repressing a c-myc reporter via the FUSE
	targeting transcription factor IIH (only the p89 helicase)
	inhibiting activated transcription
	using TFIIH to delay promoter escape
	poly-U RNA-binding protein required to reconstitute splicing in depleted nuclear extracts
	playing a role in alternative splicing, and also controls MYC gene expression
	also possesses pre-mRNA splicing activity
	nucleic acid-binding protein, a component of multimeric complexes regulating RNA splicing and transcription
	is a splicing factor that binds uridine (U)-rich tracts and facilitates association of the U2 small nuclear ribonucleoprotein with primary transcripts

CELLULAR PROCESS	nucleotide, transcription, regulation
	nucleotide, RNA splicing

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

forming a ternary complex with far upstream element (FUSE) and FUSE-binding protein (FBP)

INTERACTION

DNA

RNA

small molecule

protein	binding to Ro RNPs
	interacting with U2A2 (mutually enhance their affinity for binding polypyrimidine tract RNA in a cooperative fashion)
	binds to FUSE, as well as to the central domain of FUBP1, and forms a stable tripartite FUSE-FUBP1-PUF60 complex, which represses activated but not basal MYC transcription after transcription initiation by delaying promoter escape

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DEL8Q24.3

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional         in xeroderma pigmentosum disorder (XPB, XPD)

Susceptibility

to dermatomyositis and Sjögren syndrome

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS