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FLASH GENE

Symbol

SNRPN

contributors: mct - updated : 18-08-2010

HGNC name	small nuclear ribonucleoprotein polypeptide N
HGNC id	11164

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

proline rich extensin domain

conjugated

RiboP

HOMOLOGY

interspecies

homolog to murine Surpin

Homologene

FAMILY

Sur up Smb/Smn family

CATEGORY

RNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleolus

basic FUNCTION	playing a role in maternal imprinting may be dependent or facilitated by the presence of a nuclear matrix attachment region (MAR)
	containing a promoter region playing a critical role in the initiation of imprint switching during spermatogenesis
	time-dependent demethylated during the process of postovulatory aging in oocytes (Liang 2008)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

PWS , DUP15QP

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   hypermethylated in benign ovarian teratoma and germ cell tumor constitutional   deletion     in Prader-Willi syndrome tumoral     --low   by hypermethylation in acute myeloid leukemia and myelodysplastic syndromes (Benetatos 2010)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS