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FLASH GENE

Symbol

CLSTN1

contributors: mct - updated : 28-01-2015

HGNC name	calsyntenin 1
HGNC id	17447

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	1p36.22      Physical location : 9.789.079 - 9.884.550
Synonym name	alcadein alpha 1
	non-classical cadherin XB31alpha1
	cadherin-related family member 12
	alzheimer-related cadherin-like protein
Synonym symbol(s)	CSTN1, KIAA0911, CST1, FLJ32258, PIK3CD, XB31alpha, alcalpha1, alcalpha2

DNA

TYPE	functioning gene
STRUCTURE	95.47 kb     18 Exon(s)

Genomic sequence alignment details
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_001009566 19 - 5209 NP_001009566 - 981 - 2006 16760430 NM_014944 18 - 5179 NP_055759 - 971 - 2006 16760430

EXPRESSION

Type	ubiquitous

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   highly Endocrine pancreas       highly Homo sapiens   parathyroid       highly Nervous nerve       highly Respiratory respiratory tract larynx     highly Urinary kidney       highly Visual eye       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Endocrine islet cell (alpha,beta...) Homo sapiens Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	brain moderately

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a cytoplasmic synaptic Ca2+ binding domain
	two cadherin domains
	two highly conserved segments in the cytoplasmic domain of calsyntenin-1 mediate binding to the tetratricopeptide repeats of KLC1

conjugated

GlycoP

HOMOLOGY

interspecies	ortholog to murine Clstn1
	homolog to Drosophila calsyntenin-1
	homolog to C.elegans B0034.3a

Homologene

FAMILY

CATEGORY

adhesion , regulatory

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
text	type I membrane protein

basic FUNCTION	modulating calcium-mediated postsynaptic signals
	inducing vesicle association of kinesin-1 motor components and activates axonal transport
	cargo regulating kinesin-1 function and associated with APP transport and metabolism
	function outside the nervous system and potentially is modulator of endocrine function
	acts as a general mediator of anterograde axonal transportation of endosomal vesicles
	may actively contribute to axonal growth and pathfinding in the developing as well as to the maintenance of neuronal polarity in the adult nervous system
	CLSTN1/APP organelles as carriers for sheltered anterograde axonal transport of APP
	key role for CLSTN1 in the transport of NMDA receptors to synaptic targets, which is necessary for the maturation of neuronal circuits during early development
	essential regulator of axon branching and neuronal compartmentalization
	regulates transport of RAB5-containing endosomes from the cell body to specific locations of developing axons

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

neurotransmission

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	Ca2+

protein	direct interaction with the light chain of Kinesin-1 (KLC1), linking a certain type of vesicular and tubulovesicular organelles to the Kinesin-1 motor
	interacting with APP (coordinated metabolism of Alcadein and amyloid beta-protein precursor regulates FE65-dependent gene transactivation)
	phosphorylation of KLC1ser460 represents a mechanism for selectively regulating the binding and trafficking of CLSTN1
	is a ligand for kinesin-1 light chains (KLC1) and APP is transported through axons on kinesin-1 molecular motors
	disruption of CLSTN1-associated axonal transport of APP is a pathogenic mechanism in Alzheimer disease

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in Alzheimer disease brains and the extent of this reduction correlates with increased APP levels

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS