Cntnap3 contactin associated protein-like 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cntnap3provided by MGI
Official Full Name: contactin associated protein-like 3provided by MGI
Primary source: MGI:MGI:3588199
See related: Ensembl:ENSMUSG00000033063 AllianceGenome:MGI:3588199
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
Summary: Located in axon. Is active in perikaryon. Is expressed in midbrain mantle layer; midbrain-hindbrain junction; and telencephalon mantle layer. Orthologous to several human genes including CNTNAP3 (contactin associated protein family member 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in frontal lobe adult (RPKM 1.6), CNS E18 (RPKM 1.4) and 8 other tissues See more
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Genomic context

Location:: 13 B3; 13 33.46 cM

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (64883994..65051845, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (64737591..64904029, complement)

Chromosome 13 - NC_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

In trans neuregulin3-Caspr3 interaction controls DA axonal bassoon cluster development.
Title: In trans neuregulin3-Caspr3 interaction controls DA axonal bassoon cluster development.
These evidences elucidate the pivotal role of CNTNAP3 in synapse development and social behaviors, providing mechanistic insights into autism spectrum disorders
Title: The critical role of ASD-related gene CNTNAP3 in regulating synaptic development and social behavior in mice.
The findings of this study suggest that Caspr3 may play an important role in basal ganglia development during early postnatal stages.
Title: Cell adhesion molecule contactin-associated protein 3 is expressed in the mouse basal ganglia during early postnatal stages.
Our findings suggest that reduced activation of neural cells in the dorsal striatum in Caspr3-KO mice leads to a decline in motor learning in the accelerated rotarod task.
Title: Caspr3-Deficient Mice Exhibit Low Motor Learning during the Early Phase of the Accelerated Rotarod Task.

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Variation

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Alleles

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

Endonuclease-mediated (1)
Targeted (2) 1 citation

General gene information

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Markers

NoName (e-PCR)
- UniSTS:236201

46.MMHAP11FRH10.seq (e-PCR)
- UniSTS:124611

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
involved_in biological_process	ND No biological Data available more info

Component	Evidence Code	Pubs
is_active_in axon	IDA Inferred from Direct Assay more info	PubMed
is_active_in perikaryon	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: contactin-associated protein-like 3

Names: cell recognition molecule Caspr3

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_001081129.2 → NP_001074598.1 contactin-associated protein-like 3 precursor

Status: VALIDATED

Source sequence(s)

AC101142, AC156576, AC159190

Consensus CDS

CCDS36703.1

UniProtKB/TrEMBL

E9PY62

Related

ENSMUSP00000089140.5, ENSMUST00000091554.6

Conserved Domains (6) summary

smart00231
Location:58 → 180

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain

cd00054
Location:551 → 586

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

cd00057
Location:57 → 179

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:796 → 940

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 ...

pfam02210
Location:402 → 525

Laminin_G_2; Laminin G domain

cl00085
Location:593 → 638

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 ...

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_000079.7 Reference GRCm39 C57BL/6J

Range

64883994..65051845 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011244524.3 → XP_011242826.1 contactin-associated protein-like 3 isoform X1

Conserved Domains (4) summary

cd00054
Location:555 → 590

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

cd00057
Location:57 → 179

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:375 → 526

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:597 → 642

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 ...