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FLASH GENE

Symbol

PPIE

contributors: mct - updated : 21/10/2008

HGNC name	peptidylprolyl isomerase E (cyclophilin E)
HGNC id	9258

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	25.07 kb     11 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map

see CLN1

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006112 10 splicing 4392 NP_006103 33.3 301 - 1998 9747881 NM_203456 10 splicing 1136 NP_982281 33 296 - 1998 9747881 using an alternate exon at the 3' end of the coding region compared to variant 1 NM_001195007 11 splicing 1271 NP_001181936 - 314 - -

EXPRESSION

Type

widely

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 pharynx       highly   salivary gland       predominantly Lymphoid/Immune tonsils       highly Nervous brain         Reproductive female system ovary     moderately Respiratory respiratory tract larynx     moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune T cell

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an RNA recognition motif (RRM) domain, interacting with PHD3 domain of MLL
	C-terminal cyclophilin domain that has peptidyl-proline isomerase (PPIase) activity

conjugated

HemoP

mono polymer

monomer , complex

HOMOLOGY

interspecies	homolog to rattus Ppie (97.7 pc)
	homolog to murine Ppie (98.3 pc)

Homologene

FAMILY	cyclophilin-type PPIase (peptidyl-prolyl cis-trans isomerase) family
	PPIase E subfamily
	immunophilin class M family

CATEGORY

chaperone/stress , enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus
text	spliceosome

basic FUNCTION	accelerating the folding of proteins by catalyzing the cis-trans isomerization of proline imidic peptide bonds in oligopeptides
	may be involved in muscle- and brain-specific processes
	may be involved in pre-mRNA splicing
	negatively regulates the function of MLL

CELLULAR PROCESS	nucleotide, transcription, regulation
	nucleotide, RNA splicing
	protein, post translation, folding

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

identified in the spliceosome C complex

INTERACTION

DNA

RNA	binding to poly(A)(+)RNA

small molecule	cofactor, nucleotide,
	NADPH

protein	flavoprotein P450 oxidoreductase (POR)
	binding to cyclosporin A
	mediates downregulation of the expression of MLL target genes HOXC8, HOXA9, CDKN1B, and C-MYC, in a proline isomerase-dependent manner

cell & other

REGULATION

Other

binding specifically to mRNA, namely poly(A)(+)RNA which stimulates its PPIase activity

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   amplification     amplified with MYCL1 in small cell lung cancer lines

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS