Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

CNTN1

contributors: mct/npt - updated : 25-10-2016

HGNC name	contactin 1
HGNC id	2171

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	FLCM familial lethal congenital myopathy
Location	12q12      Physical location : 41.086.357 - 41.464.094
Synonym name	lentil-lectin binding glycoprotein Gp135
	neural cell surface protein F3
Synonym symbol(s)	F3, GP135, MYPCN

DNA

TYPE	functioning gene
SPECIAL FEATURE	head to head
STRUCTURE	379.97 kb     23 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D12S1931 - D12S1474 - D12S2001 - (D12S1029 ,D12S1067 ) - D12S331 - D12S1928 - D12S3067 - D12S1930 - D12S1470 - D12S1243E - D12S1469 - D12S1269 - D12S1048 - D12S1668 - D12S1065 - (CNTN1 ,D12S315 ,D12S247 ) - D12S1271 - D12S1081 - D12S1296 - D12S1090 - D12S1130E - (D12S1424 ,D12S1589 ,D12S1592 ,D12S1198E ) - (D12S856 ,D12S1653 ) - D12S1473 - D12S29 - D12S1080 - qter
Authors	4st Workshop chrom.12 (97)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed contactin-1 - - 6600 32 974 - 2016 26721881 contactin-2 - - - - 963 brain 2016 26721881 shorter N terminus NM_001843 24 - 5664 NP_001834 - 1018 - 2016 26721881 NM_175038 23 - 5480 NP_778203 - 1007 - 2016 26721881 NM_001256063 16 - 3315 NP_001242992 - 627 - 2016 26721881 NM_001256064 16 - 3528 NP_001242993 - 627 - 2016 26721881

EXPRESSION

Type	restricted

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

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Nervous oligodendrocyte Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	six C2 Ig-like domains
	four FNIII-like extracellular domains
	a single transmembrane segment (TM)
	a GPI anchor Ig-like and FNIII domains, wuth Ig repeats 2 and 3 that interact with the CA-like domain found at the N terminus of the PTPRZ1 extracellular domain
	a short cytoplasmic tail

conjugated

GlycoP

HOMOLOGY

Homologene

FAMILY	immunoglobulin superfamily
	contactin family

CATEGORY

adhesion

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	expressed at the neuromuscular junction

basic FUNCTION	neuronal cell adhesion molecule, involved in axon growth and initiating a NOTCH/DTX1 signaling pathway that promotes oligodendrocyte maturation and myelination
	may play a role in the formation of axon connections in the developing nervous system
	playing a role at the neuromuscular junction
	playing a role in the regulation of neurite growth, synapse formation, fasciculation, and myelin organization
	CNTN1, CNTN2 and L1-like proteins (NRCAM) play a significant role in modulating SHH-induced neuronal precursor proliferation
	plays a general role in neural development and, in particular, in neuronal and oligodendrocyte differentiation
	reduces CDH1 expression via activating AKT1 in lung cancer
	is involved in several aspects of neural development including synapse building, maintenance and functioning
	plays likely a role in promoting adult hippocampal neurogenesis and this effect correlates with improved synaptic function and memory
	regulates both myelin formation and organization of nodal and paranodal domains in the CNS
	neural cell adhesion protein, hat is a prostate cancer-promoting factor

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

a component

PTPRZ1/CNTN1 complex is a previously unknown modulator of oligodendrogenesis

INTERACTION

DNA

RNA

small molecule

protein	NOTCH1 and NOTCH2 ligand
	interacting with PTPRZ2 (Abdelhakim 2010)
	PTPRZ1 binds specifically to CNTN1 expressed at the surface of oligodendrocyte precursor cells
	enhances AKT1 activation in part by preventing PHLPP2-mediated AKT1 dephosphrorylation
	PTPRA interacts with CNTN1 to form a membrane-spanning co-receptor complex to transduce extracellular signals to FYN tyrosine kinase

cell & other

REGULATION

Other

regulated by CNTNAP1 (regulates the intracellular processing and transport of contactin to the cell surface, thereby affecting its ability to interact with other cell adhesion molecules)

ASSOCIATED DISORDERS

corresponding disease(s)

FLCM

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in glioblastomas compared with normal brain tumoral     --over   in gastric cancer tissues compared with adjacent normal tissues

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	may be a novel biomarker of the cancer
Therapy target
	System Type Disorder Pubmed cancer     possible therapeutic target in cancer treatment in the near future cancer digestive stomach may be a potential therapeutic target for gastric cancer

ANIMAL & CELL MODELS