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FLASH GENE

Symbol

NOP56

contributors: mct - updated : 27-08-2014

HGNC name	nucleolar protein 5A (56kDa with KKE/D repeat)
HGNC id	15911

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SCA36 spinocerebellar ataxia-36
Location	20p13      Physical location : 2.633.253 - 2.639.038
Synonym name	nucleolar protein Nop56
Synonym symbol(s)	NOL5A

DNA

TYPE	functioning gene
STRUCTURE	5.86 kb     12 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006392 12 - 2068 NP_006383 66 594 - 1997 9372940

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 blood / hematopoietic spleen         Cardiovascular heart       highly Endocrine pancreas       highly Nervous brain       highly Reproductive male system prostate     highly Respiratory lung       highly Urinary kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Connective bone       Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine   Lymphoid         Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies	homolog to yeast S.cerevisiae sik1p
	homolog to Drosophila nop56
	homolog to C.elegans K07C5.4

Homologene

FAMILY

NOP5/NOP56 family

CATEGORY

RNA associated

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm
	intracellular,nucleus,nucleoplasm
	intracellular,nucleus,nucleolus

basic FUNCTION	involved in pre-mRNA processing
	required for 60S ribosomal subunit biogenesis
	NOP56 and NOP58 are required for ribosome biogenesis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	ribosome biogenesis

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

binding

small molecule

protein	FBL and and NOP56 directly interact (interaction, indispensable for the association of both proteins with the box C/D snoRNPs)
	RUVBL2, RUVBL1 efficiently bridge interactions between the core box C/D proteins NOP56 or NOP58 and NHP2L1

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SCA36

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS