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FLASH GENE

Symbol

PNN

contributors: mct - updated : 26-01-2013

HGNC name	pinin, desmosome associated protein
HGNC id	9162

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	14q21.1      Physical location : 39.644.386 - 39.652.421
Synonym name	140 kDa nuclear and cell adhesion-related phosphoprotein
	melanoma metastasis clone A protein
	desmosome-associated protein
	SR-like protein
	nuclear protein SDK3
	neutrophil protein
Synonym symbol(s)	SDK3, DRS, MEMA, pinin, DRSP

DNA

TYPE	functioning gene
STRUCTURE	8.04 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002687 9 - 3606 NP_002678 81.5 717 - 2000 10645008

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       highly   stomach       moderately Lymphoid/Immune thymus       highly Nervous brain       highly Mus musculus Urinary bladder       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone     moderately Nervous central       Mus musculus

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Mus musculus Nervous oligodendrocyte Mus musculus

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	moderately in embryonic tissue

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

polyserine/RS motif, playing a central but not exclusive role in mediating molecular interactions with identified SR-rich proteins

conjugated

Other

mono polymer

complex

HOMOLOGY

interspecies	homolog to rattus Pnn (93.7 pc)
	homolog to murine Pnn (94.1 pc)

Homologene

FAMILY

pinin family

CATEGORY

adhesion , regulatory , structural protein , RNA associated , transcription factor

SUBCELLULAR LOCALIZATION	plasma membrane,junction,desmosome
	intracellular
	intracellular,cytoplasm,cytoskeleton,intermed filament
	intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles

basic FUNCTION	playing a role as transcriptional activator binding to the E-box 1 core sequence of the E-cadherin promoter gene
	being capable of reversing CTBP1-mediated transcription repression
	also participating in the regulation of alternative pre-mRNA splicing
	involved in the establishment and maintenance of epithelia cell-cell adhesion
	being a potential tumor suppressor for renal cell carcinoma
	cell-adhesion-related and nuclear protein that has been identified as central in the establishment and maintenance of corneal epithelial cell-cell adhesion
	PNN and SR-rich proteins may be part of a multiprotein complex within the nucleus and may be involved in pre-mRNA processing
	function in maintenance of epithelial integrity through altering expression of several key adhesion molecules
	is essential for tight regulation of Wnt signaling and CDX2 expression during small intestinal development
	nuclear and desmosome-associated SR-like protein
	playing multiple roles in cell adhesion, transcriptional regulation, pre-mRNA splicing and mRNA export
	is potentially essential for the maintenance of subsets of neural crest cells
	ESRP1 and PNN modulate alternative splicing of a specific subset of target genes, but not general splicing events, in corneal cells to maintain or enhance epithelial characteristics

CELLULAR PROCESS	cell cycle
	nucleotide, transcription, regulation
	nucleotide, RNA splicing

PHYSIOLOGICAL PROCESS

text	negative regulation of cell cycle

PATHWAY

metabolism

signaling

a component	spliceosome
	found in a complex with SR proteins
	found in a mRNP complex with RNPS1

INTERACTION

DNA	core-binding sequence 5'CAGGTG-3'

RNA	associating to spliced mRNA within 60 nt upstream of the 5'-splice sites

small molecule

protein	interacting with PNISR, CTBP1, CTBP2, KRT8, KRT18, KRT19, PS1D/PNO40, PPIG, RNPS1, SFRS4 and SRRM2
	three SR-rich proteins were identified that interact with the C-terminus of PNN: SRSF4 and SRRM2, known components of spliceosome machinery, and PNISR
	plays a crucial role in small intestinal development by influencing expression of an intestinal homeobox gene, CDX2
	PNN physically interacts with RNPS1 and SAP18, forming an alternative ternary complex, PSAP

cell & other

REGULATION

Other	phosphorylated upon DNA damage, probably by ATM or ATR
	acetylation

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   greatly reduced in renal cell carcinoma

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

embryonic lethality of pnn-deficient mice