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FLASH GENE

Symbol

PUS1

contributors: mct - updated : 24-03-2013

HGNC name	pseudouridylate synthase 1
HGNC id	15508

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	14.62 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_025215 6 - 2014 NP_079491 47 427 - 2005 15772074 NM_001002019 6 - 1637 NP_001002019 44 399 - 2005 15772074 NM_001002020 6 - 1666 NP_001002020 - 399 - 2005 15772074

EXPRESSION

Type

widely

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 liver         Endocrine pancreas         Lymphoid/Immune tonsils       highly Nervous brain         Reproductive female system uterus cervix   highly Respiratory lung         Urinary kidney

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies

ortholog to murine Pus1

Homologene

FAMILY

tRNA pseudouridine synthase truA family

CATEGORY

RNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,nucleus,nucleolus

basic FUNCTION	converting uridine into pseudouridine after the nucleotide has been incorporated into RNA
	can bind with nuclear receptors (NRs) and function as a coactivator through pseudouridylation and likely activation of an RNA coactivator called steroid receptor RNA activator (SRA1)
	PUS1 and PUS3 -dependent pseudouridylation of SRA1 is a highly complex posttranscriptional mechanism that controls a coactivator-corepressor switch in SRA1 with major consequences for nuclear receptor signaling
	enzyme that converts uridine to Pseudouridine (Psi) in tRNA and other RNA
	unusual site-specific modification enzyme in that it can modify a number of positions in tRNAs and can recognize several other types of RNA

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MLASA1

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS