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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

Corresponding disease	DEL8Q24.3 8q24.3 deletion syndrome
Location	8q24.3      Physical location : 144.898.548 - 144.911.537
Synonym name	pyrimidine-tract binding splicing factor
	SIAH binding protein 1
	fuse-binding protein-interacting repressor
	Ro ribonucleoprotein-binding protein 1
	FBP interacting repressor
	Siah-binding protein 1
Synonym symbol(s)	FIR, RoBP1, SIAHBP1, FLJ31379

DNA

TYPE	functioning gene
STRUCTURE	13.70 kb     12 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - D8S1751 - D8S1406E - PUF60 - D8S1577E - D8S595 - qter

RNA

TRANSCRIPTS	type	messenger

text	multiple polyadenylation sites

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_078480 12 splicing 1946 NP_510965 59.74 559 - 2017 28471317 NM_014281 11 splicing 1853 NP_055096 58.2 542 - 2017 28471317 same reading frame than variant NM_078480 NM_001136033 12 - 1874 NP_001129505 55.6 516 - 2017 28471317 NM_001271097 10 - 1810 NP_001258026 - 513 - 2017 28471317 NM_001271099 11 - 1861 NP_001258028 - 530 - 2017 28471317 NM_001271096 11 - 1894 NP_001258025 - 541 - 2017 28471317 NM_001271098 12 - 1945 NP_001258027 - 558 - 2017 28471317 NM_001271100 11 - 1916 NP_001258029 - 499 - 2017 28471317 NM_001362895 13 - 2119 NP_001349824 - 596 - 2017 28471317 NM_001362896 13 - 2282 NP_001349825 - 596 - 2017 28471317 NM_001362897 12 - 2068 NP_001349826 - 579 - 2017 28471317

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