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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

Corresponding disease	DUP15QP chromosome 15 interstitial duplication involving the Prader-Willi/Angelman critical region PWS Prader-Willi syndrome
Location	15q11.2      Physical location : 25.068.793 - 25.223.729
Synonym name	human lupus autoantigen, associated polypeptide SmN
	tissue-specific-splicing protein
	Sm protein N
	Sm protein D
Synonym symbol(s)	HCERN3, SMD, RSMN, PWCR, SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI, DKFZp686C0927, DKFZp686M12165, DKFZp762N022, DKFZp761I1912, MGC29886

DNA

TYPE	functioning gene
SPECIAL FEATURE
text	associated with a 5'differentiated methylated region (DMR)
STRUCTURE	176.41 kb     12 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence

MAPPING

cloned

Y

linked

N

status

confirmed

regionally located

. SNURF–SNRPN locus spans more than 460 kb and contains at least 148 exons (Kishore 2010) . large 3'-UTR region of the SNURF–SNRPN locus harbors clusters of the C/D box snoRNAs HBII-85 and HBII-52 that are present in 24 and 47 copies, respectively (Kishore 2010)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_003097 10 - 1326 NP_003088 24.6 240 - Schmauss, Runte (2001) NM_022805 12 - 1605 NP_073716 24.6 240 - Schmauss, Runte (2001) NM_022806 12 - 1616 NP_073717 24.6 240 - Schmauss, Runte (2001) NM_022807 13 - 1751 NP_073718 24.6 240 - Schmauss, Runte (2001) NM_022808 12 - 1643 NP_073719 24.6 240 - Schmauss, Runte (2001)

EXPRESSION

Type	restricted

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 Nervous brain

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central

cell lineage

cell lines

fluid/secretion

at STAGE

IMPRINTING	maternally
text	only paternal allele expressed in fetal brain and heart
	SNURF–SNRPN pre-mRNA is expressed only from the paternal allele (Kishore 2010)

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