Cntnap1 contactin associated protein-like 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cntnap1provided by MGI
Official Full Name: contactin associated protein-like 1provided by MGI
Primary source: MGI:MGI:1858201
See related: Ensembl:ENSMUSG00000017167 AllianceGenome:MGI:1858201
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: shm; NCP1; p190; Caspr; Nrxn4
Summary: Predicted to enable SH3 domain binding activity. Involved in several processes, including cell-cell junction organization; neuronal action potential propagation; and synapse organization. Acts upstream of or within neuron projection development. Located in paranode region of axon and septate junction. Is expressed in optic nerve; sciatic nerve; and spinal cord. Human ortholog(s) of this gene implicated in lethal congenital contracture syndrome. Orthologous to human CNTNAP1 (contactin associated protein 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in cerebellum adult (RPKM 42.2), cortex adult (RPKM 22.5) and 8 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 D; 11 64.33 cM

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (101065429..101081550)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (101174617..101190724)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mouse models of human CNTNAP1-associated congenital hypomyelinating neuropathy and genetic restoration of murine neurological deficits.
Title: Mouse models of human CNTNAP1-associated congenital hypomyelinating neuropathy and genetic restoration of murine neurological deficits.
Mutations of CNTNAP1 led to defects in neuronal development.
Title: Mutations of CNTNAP1 led to defects in neuronal development.
These data suggest that NgR1 may regulate axo-myelin ultrastructure through Caspr-mediated adhesion, regulating the electrophysiological signature of myelinated axons of central nervous system.
Title: Nogo receptor 1 regulates Caspr distribution at axo-glial units in the central nervous system.
E. coli exploits Caspr1 as a host receptor for penetration of the blood-brain barrier, resulting in meningitis
Title: Caspr1 is a host receptor for meningitis-causing Escherichia coli.
In Caspr1 mutants, there was a reduction in conductive properties of peripheral myelinated fibers and neuromuscular junction disintegration.
Title: Axonal domain disorganization in Caspr1 and Caspr2 mutant myelinated axons affects neuromuscular junction integrity, leading to muscle atrophy.
Caspr as a novel key regulator that controls the temporal specification of cell fate in radial glial cells of the developing cerebral cortex through Notch signaling
Title: Caspr Controls the Temporal Specification of Neural Progenitor Cells through Notch Signaling in the Developing Mouse Cerebral Cortex.
Simultaneous deletion of Caspr and Caspr2 disrupts the internodal organization of Kv1.2.
Title: Caspr and caspr2 are required for both radial and longitudinal organization of myelinated axons.
Caspr co-localizes and interacts with APP. Amyloid-beta (Abeta) 40 and Abeta42 generation were also reduced in HEK-APP cells by Caspr overexpression.
Title: Caspr interaction with Amyloid Precursor Protein reduces amyloid-β generation in vitro.
Caspr labeling was observed through much of the retina, including horizontal, bipolar, amacrine, and ganglion cells.
Title: Localization of the paranodal protein Caspr in the mammalian retina.
Clustering of Caspr at initial contact sites between OL processes and the axon requires glial expression of NF155 but not of contactin. Expression of membrane proteins along the axolemma is determined by the type of the contacting glial cells.
Title: Differential clustering of Caspr by oligodendrocytes and Schwann cells.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Phenotypes

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Associated conditions

Description	Tests
shambling GeneReviews: Not available

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (4)
Radiation induced (1) 1 citation
Chemically induced (ENU) (1)
Targeted (5) 1 citation
Endonuclease-mediated (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables SH3 domain binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in axonogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in central nervous system myelination	ISO Inferred from Sequence Orthology more info
involved_in cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrion organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in myelination	IGI Inferred from Genetic Interaction more info	PubMed
involved_in myelination in peripheral nervous system	ISO Inferred from Sequence Orthology more info
involved_in neuromuscular junction development, skeletal muscle fiber	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuromuscular process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuromuscular process controlling balance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuromuscular process controlling posture	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron projection development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in neuron projection morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron projection morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in neuronal action potential propagation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in paranodal junction assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in paranodal junction assembly	ISO Inferred from Sequence Orthology more info
involved_in paranodal junction maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in postsynaptic density organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to juxtaparanode region of axon	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to paranode region of axon	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of synapse maturation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of synapse maturation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
located_in axon	ISO Inferred from Sequence Orthology more info
located_in glutamatergic synapse	IC Inferred by Curator more info	PubMed
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in myelin sheath	HDA more info	PubMed
located_in paranode region of axon	IDA Inferred from Direct Assay more info	PubMed
located_in paranode region of axon	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	TAS Traceable Author Statement more info
is_active_in presynaptic active zone	ISO Inferred from Sequence Orthology more info
located_in septate junction	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: contactin-associated protein 1

Names: MHDNIV; caspr1; neurexin 4 (contactin associated protein); neurexin IV; neurexin-4; paranodin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_016782.2 → NP_058062.2 contactin-associated protein 1 precursor

See identical proteins and their annotated locations for NP_058062.2

Status: VALIDATED

Source sequence(s)

AF039833, AL590969, CN538743

Consensus CDS

CCDS25455.1

UniProtKB/Swiss-Prot

A2A4K6, O54991

UniProtKB/TrEMBL

Q3U428

Related

ENSMUSP00000099398.4, ENSMUST00000103109.4

Conserved Domains (6) summary

smart00294
Location:1305 → 1323

4.1m; putative band 4.1 homologues' binding motif

smart00282
Location:200 → 332

LamG; Laminin G domain

cd00057
Location:37 → 168

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.

cd00110
Location:363 → 514

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

cl00085
Location:585 → 659

FReD; Fibrinogen-related domains (FReDs); C terminal globular domain of fibrinogen. Fibrinogen is involved in blood clotting, being activated by thrombin to assemble into fibrin clots. The N-termini of 2 times 3 chains come together to form a globular ...

pfam00008
Location:545 → 574

EGF; EGF-like domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000077.7 Reference GRCm39 C57BL/6J

Range

101065429..101081550

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036156841.1 → XP_036012734.1 contactin-associated protein 1 isoform X2

UniProtKB/TrEMBL

Q3U428

Conserved Domains (6) summary

smart00294
Location:1228 → 1246

4.1m; putative band 4.1 homologues' binding motif

smart00282
Location:123 → 255

LamG; Laminin G domain

cd00057
Location:1 → 91

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.

cd00110
Location:286 → 437

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

pfam00008
Location:468 → 497

EGF; EGF-like domain

cl00085
Location:508 → 582

FReD; Fibrinogen-related domains (FReDs); C terminal globular domain of fibrinogen. Fibrinogen is involved in blood clotting, being activated by thrombin to assemble into fibrin clots. The N-termini of 2 times 3 chains come together to form a globular ...
XM_030246150.1 → XP_030102010.1 contactin-associated protein 1 isoform X1

UniProtKB/Swiss-Prot

A2A4K6, O54991

UniProtKB/TrEMBL

Q3U428

Conserved Domains (6) summary

smart00294
Location:1305 → 1323

4.1m; putative band 4.1 homologues' binding motif

smart00282
Location:200 → 332

LamG; Laminin G domain

cd00057
Location:37 → 168

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.

cd00110
Location:363 → 514

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

cl00085
Location:585 → 659

FReD; Fibrinogen-related domains (FReDs); C terminal globular domain of fibrinogen. Fibrinogen is involved in blood clotting, being activated by thrombin to assemble into fibrin clots. The N-termini of 2 times 3 chains come together to form a globular ...

pfam00008
Location:545 → 574

EGF; EGF-like domain
XM_036156843.1 → XP_036012736.1 contactin-associated protein 1 isoform X3

Conserved Domains (5) summary

smart00294
Location:968 → 986

4.1m; putative band 4.1 homologues' binding motif

smart00282
Location:747 → 882

LamG; Laminin G domain

cd00110
Location:26 → 177

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

pfam00008
Location:208 → 237

EGF; EGF-like domain

cl00085
Location:248 → 322

FReD; Fibrinogen-related domains (FReDs); C terminal globular domain of fibrinogen. Fibrinogen is involved in blood clotting, being activated by thrombin to assemble into fibrin clots. The N-termini of 2 times 3 chains come together to form a globular ...
XM_036156842.1 → XP_036012735.1 contactin-associated protein 1 isoform X2

UniProtKB/TrEMBL

Q3U428

Conserved Domains (6) summary

smart00294
Location:1228 → 1246

4.1m; putative band 4.1 homologues' binding motif

smart00282
Location:123 → 255

LamG; Laminin G domain

cd00057
Location:1 → 91

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.

cd00110
Location:286 → 437

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

pfam00008
Location:468 → 497

EGF; EGF-like domain

cl00085
Location:508 → 582

FReD; Fibrinogen-related domains (FReDs); C terminal globular domain of fibrinogen. Fibrinogen is involved in blood clotting, being activated by thrombin to assemble into fibrin clots. The N-termini of 2 times 3 chains come together to form a globular ...
XM_006533729.4 → XP_006533792.1 contactin-associated protein 1 isoform X2

See identical proteins and their annotated locations for XP_006533792.1

UniProtKB/TrEMBL

Q3U428

Conserved Domains (6) summary

smart00294
Location:1228 → 1246

4.1m; putative band 4.1 homologues' binding motif

smart00282
Location:123 → 255

LamG; Laminin G domain

cd00057
Location:1 → 91

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.

cd00110
Location:286 → 437

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

pfam00008
Location:468 → 497

EGF; EGF-like domain

cl00085
Location:508 → 582

FReD; Fibrinogen-related domains (FReDs); C terminal globular domain of fibrinogen. Fibrinogen is involved in blood clotting, being activated by thrombin to assemble into fibrin clots. The N-termini of 2 times 3 chains come together to form a globular ...