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FLASH GENE

Symbol

CNTNAP1

contributors: mct/pgu - updated : 23-11-2016

HGNC name	contactin associated protein 1
HGNC id	8011

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CHN1 congenital hypomyelinating neuropathy 1 LCCS7 lethal congenital contracture syndrome 7
Location	17q21.2      Physical location : 40.834.631 - 40.852.010
Synonym name	paranodin
	contactin associated transmembrane receptor p1901 Caspr
	neurexin 4
Synonym symbol(s)	NRXN4, CASPR, P190, CNTNAP

DNA

TYPE	functioning gene
STRUCTURE	17.42 kb     24 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

tentative : very preliminary evidence

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_003632 24 - 5471 NP_003623 - 1384 - 2003 14592966

EXPRESSION

Type

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 Nervous brain       predominantly Visual eye retina       Mus musculus

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central

cells

System Cell Pubmed Species Stage Rna symbol Nervous oligodendrocyte Visual amacrine cell Mus musculus Visual ganglion cell Mus musculus Visual rod photoreceptor Mus musculus

cell lineage
cell lines	neuroblastoma
fluid/secretion

at STAGE

Text	in development of the nervous system

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	at extracellular N terminus, a discoidin/factor V homology region
	three neurexin-like domains, a fibrinogen beta/gamma related sequence
	EGF, epidermal growth factor-like repeat
	a sequence composed of eight repeats of Pro-Gly-Tyr (PGY), followed by a single transmembrane segment
	a short cytoplasmic C terminal tail with a proline rich sequence

conjugated

GlycoP

HOMOLOGY

interspecies

homolog to Drosophila neurexin 4,but structurally different from NRXN2 or NRXN3

Homologene

FAMILY

neurexin family

CATEGORY

adhesion , signaling , receptor

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	putative mediator of glial-cell adhesion
	may be the signaling subunit of contactin, enabling recruitment and activation of intracellular signaling pathways in neurons
	playing an essential role for the structure and function of septate-like paranodal axoglial junctions at nodes of Ranvier
	required for formation of the paranodal junction in myelinated nerves
	role in organizing the localization of different voltage-gated ion channels in and around nodes of Ranvier
	CNTNAP1 is a regulator of the trafficking of AMPA receptors to synapses
	plays roles in formation of paranodal junctions in myelinated axons, neurite outgrowth, synaptic plasticity in nervous system
	essential component of node of Ranvier domains which underlies saltatory conduction of action potentials along the myelinated axons, an important process for neuronal function
	CNTNAP1, CNTNAP2 are required for the organization of the axolemma both radially, manifested as the mesaxonal line, and longitudinally, demarcated by the nodal domains
	constitutes a new antigen that leads to autoantibody generation as part of the novel entity of neuropathies associated with autoantibodies against paranodal proteins
	encodes CASPR1, an essential component of the paranodal axoglial junction composed by CASPR1, contactin-1, and neurofascin-155 (NF155)
	essential component of the paranodal junctions of the peripheral and central nervous systems, that is necessary for the establishment of transverse bands that stabilize paranodal axo-glial junctions

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

CASPR and contactins (CNTN1, CNTN2, CNTN3, CNTN4, CNTN5, CNTN6 form a complex that is targeted to the paranodal junctions during myelination

INTERACTION

DNA

RNA

small molecule

protein	binding EPB41 and EPB41L3 through the GNP motif
	co-localizes and interacts with APP, and reduces amyloid-beta generation

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

LCCS7 , CHN1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       appear to induce characteristic ultrastructural lesions of the paranodal region

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

nodal/paranodal axoplasm of shm mice lack paranodal junctions and contain large mitochondria and abnormal accumulations of cytoplasmic organelles that indicate altered axonal transport