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FLASH GENE

Symbol

PAF1

contributors: mct/pgu - updated : 21-12-2011

HGNC name	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)
HGNC id	25459

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	19q13.2      Physical location : 39.876.271 - 39.881.679
Synonym name	pancreatic differentiation 2
Synonym symbol(s)	PD2, FLJ11123, F23149_1

DNA

TYPE	functioning gene
STRUCTURE	5.41 kb     14 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_019088 14 - 2164 NP_061961 - 531 - 2006 16491129

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 Digestive mouth tongue     moderately   pancreas exocrine       predominantly Lymphoid/Immune spleen       highly Reproductive female system breast mammary gland   moderately   female system ovary     moderately   female system placenta     moderately   female system uterus     moderately   male system testis     moderately Respiratory respiratory tract larynx     highly Skin/Tegument skin       moderately

cell lineage
cell lines
fluid/secretion	blood

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	RNA recognition motif
	DEAD-boxes
	an aspartic/serine (DS)-dmain
	a regulator of the chromosome condensation domain and myc-type helix-loop-helix domains

mono polymer

heteromer , dimer , complex

HOMOLOGY

interspecies	homolog to murine Paf1 (98.9pc)
	homolog to rattus Paf1 (98.5pc)

Homologene

FAMILY

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	directly involved in transcription elongation via histone H2B ubiquitination and histone H3 methylation
	PAF1 and the PAF complex are key regulators of cell-cycle progressionb
	acts in chromatin transcription elongation both independently and cooperatively with TCEA2 and TCEA3
	likely plays an important role in the complex processes of embryonic stem cell growth and terminal differentiation
	important role in rRNA synthesis
	regulates the developmental potential of the lateral plate mesoderm and is required cell autonomously for the specification of cardiac precursors
	involved in the regulation of transcriptional elongation and has oncogenic potential
	influences gene expression by regulating chromatin structure and the recruitment of RNA-processing factors during transcription elongation

CELLULAR PROCESS

nucleotide, transcription, elongation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	complexing with LEO1, CDC73, SH2BP1
	part of the PAF1 complex (PAF1C) implicated in transcription-associated events
	PAF1 and LEO1 subunits form a tightly associated heterodimer through antiparallel beta-sheet interactions 8)

INTERACTION

DNA

RNA

small molecule

protein	cooperative binding with RNA polymerase II
	UBE2E1, RNF20/40, and the PAF1 complex are recruited to transcriptionally active genes
	interacting with TCEA2
	associated with promoters of genes important for pluripotency, potentially maintaining an active chromatin structure
	PAF1 complex synergizes with MLL fusion proteins at HOX loci to promote leukemogenesis

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   is involved in cancer development

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS