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FLASH GENE

Symbol

POP1

contributors: mct - updated : 30-04-2013

HGNC name	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)
HGNC id	30129

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SMDA2 spondylometaphyseal dysplasia anauxetic type 2
Location	8q22.2      Physical location : 99.129.520 - 99.172.068
Synonym symbol(s)	KIAA0061
EC.number	3.1.26.5

DNA

TYPE	functioning gene
SPECIAL FEATURE	head to head
text	HRSP12 and POP1 are oriented head-to-head, separated by a 102-bp region containing a bidirectional promoter
STRUCTURE	42.55 kb     16 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_001145860 16 - 4761 NP_001139332 - 1024 - - NM_001145861 16 - 4701 NP_001139333 - 1024 - - NM_015029 16 - 4689 NP_055844 - 1024 - -

EXPRESSION

Type

widely

constitutive of

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 Digestive intestine large intestine colon   moderately Reproductive female system uterus cervix   predominantly Skin/Tegument skin       highly Urinary bladder       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

conjugated

RiboP

mono polymer

complex

HOMOLOGY

interspecies

ortholog to murine Pop1

Homologene

FAMILY

small nucleolar ribonucleoprotein (snoRNP) particles

CATEGORY

enzyme , RNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleolus

basic FUNCTION	involved in a protein complex that generates mature tRNA molecules by cleaving their 5'ends
	endonucleolytic cleavage of RNA, removing 5'- extranucleotides from tRNA precursor
	cleaving RNA derived from the mitochondrial origin of DNA replication
	implicated in pre-rRNA processing
	plays multiple roles in the assembly and function of RNases P and mitochondrial RNA processing, and the functions can be differentiated through the mutations in conserved residues
	core component of the RNase mitochondrial RNA processing (RNase MRP) complex

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

nucleic

signaling

tRNA catabolism

a component	nucleolar ribonuclease P complex
	ribonuclease MRP complex

INTERACTION

DNA

RNA

small molecule

protein

directly interacts with the RMRP RNA domains

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SMDA2

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS