InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Cntnap1

Summary

InnateDB Protein

IDBP-211923.6

Last Modified

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

Gene Symbol

Cntnap1

Protein Name

contactin associated protein-like 1

Synonyms

AI841080; Caspr; NCP1; Nrxn4; p190; shm;

Species

Mus musculus

Ensembl Protein

ENSMUSP00000099398

InnateDB Gene

IDBG-211921 (Cntnap1)

Protein Structure

UniProt Annotation

Function

Seems to play a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Seems to demarcate the paranodal region of the axo-glial junction. In association with contactin may have a role in the signaling between axons and myelinating glial cells. Mice that lack CNTAP1 exhibit tremor, ataxia, and significant motor paresis. Normal paranodal junctions fail to form, and the organization of the paranodal loops is disrupted. Contactin is undetectable in the paranodes, and potassium channels are displaced from the juxtaparanodal into the paranodal domains. Also results in a severe decrease in peripheral nerve conduction velocity.

Subcellular Localization

Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.

Disease Associations

Tissue Specificity

Expressed in brain. In myelinated nerve fibers predominantly found in paranodal axoglial junctions. In the internodal region of myelinated axons in the CNS and the PNS also found as a thin line apposing the inner mesaxon of the myelin sheath. In PNS neurons this line forms a circumferential ring that apposes the innermost aspect of Schmidt-Lanterman incisures. {ECO:0000269PubMed:11512672}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 12 interaction(s) predicted by orthology.

Predicted by orthology
Total	12 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0017124	SH3 domain binding

Biological Process

GO:0002175	protein localization to paranode region of axon
GO:0007010	cytoskeleton organization
GO:0007155	cell adhesion
GO:0008088	axon cargo transport
GO:0019227	neuronal action potential propagation
GO:0030913	paranodal junction assembly
GO:0031175	neuron projection development
GO:0048812	neuron projection morphogenesis
GO:0050884	neuromuscular process controlling posture
GO:0050885	neuromuscular process controlling balance

Cellular Component

GO:0005886	plasma membrane
GO:0008076	voltage-gated potassium channel complex
GO:0016021	integral component of membrane
GO:0030424	axon
GO:0033270	paranode region of axon

Protein Structure and Domains

PDB ID

MGI:1858201

InterPro

IPR000421 Coagulation factor 5/8 C-terminal type domain
IPR000742 Epidermal growth factor-like domain
IPR001791 Laminin G domain
IPR002181 Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain
IPR003585 Neurexin/syndecan/glycophorin C
IPR008979 Galactose-binding domain-like
IPR008985 Concanavalin A-like lectin/glucanases superfamily

PFAM

PF00754
PF00008
PF00054
PF02210
PF00147

PRINTS

PIRSF

SMART

SM00231
SM00181
SM00210
SM00282
SM00186
SM00294

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

O54991