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FLASH GENE

Symbol

PCP4

contributors: mct - updated : 02-09-2014

HGNC name	Purkinje cell protein 4
HGNC id	8742

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	21q22.2      Physical location : 41.239.346 - 41.301.320
Synonym name	brain-specific polypeptide PEP-19
	brain-specific antigen PCP-4
Synonym symbol(s)	PEP19, PEP-19

DNA

TYPE	functioning gene
STRUCTURE	61.98 kb     3 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006198 3 - 566 NP_006189 6.7 62 - 1998 9697113

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 Endocrine adrenal gland         Homo sapiens   thyroid         Homo sapiens Nervous brain forebrain cerebral cortex     Other species   brain basal nuclei caudate nucleus     Homo sapiens   brain basal nuclei putamen   highly Homo sapiens   brain limbic system hippocampus     Other species Reproductive female system uterus       Homo sapiens   male system prostate       Homo sapiens Urinary bladder         Homo sapiens   kidney         Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Nervous Purkinje cell Other species Adult

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

an IQ motif (intrinsically disordered protein, but with residual structure localized to its acidic/IQ motif) , having the potential to modulate the rate-limiting kinetics of Ca2+ binding to CALM1

HOMOLOGY

interspecies

homolog to rattus Pep-19 neuron-specific polypeptide

intraspecies

homolog to S100 calcium binding proteins

Homologene

FAMILY	calmodulin (CaM)-binding proteins family
	PCP4 family

CATEGORY

antigen

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus

basic FUNCTION	involved in the development of the central nervous system
	may play a role in the pathophysiology of Alzheimer disease and Huntington disease through a mechanism of calcium/calmodulin disregulation
	has the potential to alter the Ca2+-binding dynamics of free CALM1 and CALM1 that is bound to other target proteins
	with NRGN, small IQ-motif calmodulin (CALM1)-binding proteins originally identified in the central nervous system
	can bind to either apo- or Ca2+-CALM1, and can modulate Ca2+ binding to the C-domain of CALM1
	neurospecific, small calmodulin-binding protein that binds both calcium-free and calcium-binding calmodulin to regulate the calmodulin-mediated signal
	promotes neuroendocrine cell differentiation and neurotransmitter release by activating calmodulin function
	modulates the kinetics of Ca2+ binding to CALM1, and regulating ligand-induced Ca2+ release gives PCP4 the potential to broadly affect cell signaling
	is a modulator of Ca(2+)-Calmodulin signaling
	contributes significantly to the development of Down syndrome phenotypes through molecular and functional changes
	is a regulator of aldosterone production in normal, hyperplastic, and neoplastic human adrenocortical cells

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	is a small protein with the potential to broadly affect CALM1 signaling by binding to apo- or Ca2+-CALM1 via its IQ motif
	HOXA2 binds to PCP4 chromatin and regulates PCP4 expression in the second arch

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in cerebellum in Alzheimer and Huntington disease

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS