InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CNTN1

Summary

InnateDB Protein

IDBP-596986.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CNTN1

Protein Name

contactin 1

Synonyms

F3; GP135; MYPCN;

Species

Homo sapiens

Ensembl Protein

ENSP00000447006

InnateDB Gene

IDBG-27462 (CNTN1)

Protein Structure

UniProt Annotation

Function

Contactins mediate cell surface interactions during nervous system development. Involved in the formation of paranodal axo-glial junctions in myelinated peripheral nerves and in the signaling between axons and myelinating glial cells via its association with CNTNAP1. Participates in oligodendrocytes generation by acting as a ligand of NOTCH1. Its association with NOTCH1 promotes NOTCH1 activation through the released notch intracellular domain (NICD) and subsequent translocation to the nucleus. Interaction with TNR induces a repulsion of neurons and an inhibition of neurite outgrowth (By similarity). {ECO:0000250}.

Subcellular Localization

Isoform 1: Cell membrane; Lipid-anchor, GPI- anchor; Extracellular side.Isoform 2: Cell membrane; Lipid-anchor, GPI- anchor; Extracellular side.

Disease Associations

Compton-North congenital myopathy (CNCM) [MIM:612540]: Familial lethal form of congenital onset muscle weakness, inherited in an autosomal-recessive fashion and characterized by a secondary loss of beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma, central nervous system involvement, and fetal akinesia. {ECO:0000269PubMed:19026398}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Strongly expressed in brain and in neuroblastoma and retinoblastoma cell lines. Lower levels of expression in lung, pancreas, kidney and skeletal muscle. {ECO:0000269PubMed:2026173, ECO:0000269PubMed:8164510}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 15 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	15 [view]
Protein-Protein	15 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001948	glycoprotein binding
GO:0005515	protein binding
GO:0030246	carbohydrate binding

Biological Process

GO:0007155	cell adhesion
GO:0007219	Notch signaling pathway
GO:0007411	axon guidance
GO:0010628	positive regulation of gene expression
GO:0010765	positive regulation of sodium ion transport
GO:0010976	positive regulation of neuron projection development
GO:0021549	cerebellum development
GO:0031175	neuron projection development

Cellular Component

GO:0005886	plasma membrane
GO:0016020	membrane
GO:0031225	anchored component of membrane
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR003598 Immunoglobulin subtype 2
IPR003599 Immunoglobulin subtype
IPR003961 Fibronectin, type III
IPR007110 Immunoglobulin-like domain
IPR013098 Immunoglobulin I-set
IPR013106 Immunoglobulin V-set domain
IPR013151 Immunoglobulin

PFAM

PF00041
PF01108
PF07679
PF07686
PF00047

PRINTS

PIRSF

SMART

SM00408
SM00409
SM00060

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q12860