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FLASH GENE

Symbol

PRIMA1

contributors: mct/npt - updated : 17-05-2010

HGNC name	proline rich membrane anchor 1
HGNC id	18319

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	70.12 kb     5 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_178013 5 - 3668 NP_821092 - 153 - Xie (2010)

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 Reproductive female system ovary     highly Visual eye       moderately

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a proline-rich attachment domain (PRAD) binding the ACHE catalytic subunits
	cytoplasmic domain of PRIMA1 play some role in stabilizing the raft localization of ACHE (Xie 2010)

conjugated

GlycoP

HOMOLOGY

Homologene

FAMILY

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	plasma membrane
text	synapses

basic FUNCTION	required to anchor acetylcholinesterase (ACHE) to the basal lamina of the neuromuscular junction and to the
	membrane of neuronal synapses in brain
	also able to organize ACHE into tetramers
	involved in the neurotransmitter catabolism

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

in the brain anchoring ACHE in cell membranes (Xie 2010)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       gain of function significantly up-regulated in the differentiated neurons (Xie 2009)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS