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FLASH GENE

Symbol

SNURF

contributors: mct - updated : 18-08-2010

HGNC name	SNRPN upstream reading frame
HGNC id	11171

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	26.02 kb     10 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - MKRN3 - MAGEL2 - NDN - SNURF - SNRPN - HBII-436 - HBII-13 - HBII-437 - HBII-438A - IPW - HBII-52 - UBE3A - ATP10A - qter
Authors	Runte (01)

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

text	utilizes the first three exons of the transcript SNRPN, a region that has been identified as an imprinting center

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005678 10 splicing 1326 NP_005669 8.4 71 - Rokeach, Rodriguez-Jato (2005) includes exons 1-10 in a bicistronic transcript that also contains a downstream open reading frame for the SNRPN gene NM_022804 4 splicing 437 NP_073715 - 71 - Rokeach, Rodriguez-Jato (2005) includes exons 1-3 and alternative exon 3b (exon 3b has a polyA signal and site and its inclusion results in a truncated, monocistronic transcript)

EXPRESSION

Type

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

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

brain

IMPRINTING	maternally
text	paternally expressed
	SNURF–SNRPN pre-mRNA is expressed only from the paternal allele (Kishore 2010)

PROTEIN

PHYSICAL PROPERTIES		basic
STRUCTURE

motifs/domains

Sm domain

HOMOLOGY

interspecies

homolog to murine Snurf

Homologene

FAMILY

SNURF family

CATEGORY

RNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleolus

basic FUNCTION

unknown

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA	binding to a nuclear matrix attachment (MAR) sequence

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     mapped within the commonly deleted PWS/AS region

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS