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FLASH GENE

Symbol

NOL3

contributors: mct - updated : 29/10/2008

HGNC name	nucleolar protein 3 (apoptosis repressor with CARD domain)
HGNC id	7869

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	5.24 kb     6 Exon(s)

10 Kb 5' upstream gene genomic sequence study

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_001185057 4 splicing 1496 NP_001171986 30 219 . nuclear . heart, skeletal muscle 1999 10196175 also called NOP30 may be involved in RNA splicing oligomer binding to SFRS9/SRp30C also interacting with NPM1 negatively regulating p53 NM_001185058 6 splicing 1885 NP_001171987 22.5 208 cytoplasmic 1999 10196175 also called MYP may inhibit apoptosis binding to CASP2/caspase-2 and CASP8/caspase-8 inhibiting caspase-8 activity NM_003946 4 - 1515 NP_003937 - 208 - - also called variant 2 or MYP

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 Cardiovascular heart       predominantly Homo sapiens Digestive salivary gland       highly Endocrine neuroendocrine pituitary     highly   parathyroid       highly Nervous nerve       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose     highly Muscular striatum skeletal   predominantly Homo sapiens Muscular striatum cardiac   predominantly Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Muscular myocyte Homo sapiens Nervous neuron Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an N terminal caspase recruitment domain (CARD)
	a C terminal region rich in proline and glutamic acid

mono polymer

polymer

HOMOLOGY

interspecies	homolog to rattus Nol3 (85.4 pc)
	homolog to murine Nol3 (85.1 pc)

Homologene

FAMILY

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus,nucleoplasm
	intracellular,nucleus,nucleolus

basic FUNCTION	involved in alternative splice site selection
	inhibiting caspase 2 and 8
	being a Ca(2+)-dependent regulator of caspase 8 and cell death
	inhibitor of apoptosis in that it antagonizes both the extrinsic (death receptor) and intrinsic (mitochondrial/ER) apoptosis pathways

CELLULAR PROCESS	cell life, antiapoptosis
	nucleotide, RNA splicing

PHYSIOLOGICAL PROCESS

text	regulation of apoptosis

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

binding

small molecule	metal binding,
	Ca2+

protein	alternating apoptosis induced by TRADD, FADD
	binding to the RS domain of SFRS9 (Srp30c)
	interacting with TFPT

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in the epithelium of primary breast cancers compared with benign breast tissue and to confer chemo- and radiation-resistance tumoral     --over   in most colon cancer cell lines and in almost all primary colon cancers compared with corresponding controls

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	marker of human colon cancer
Therapy target

ANIMAL & CELL MODELS