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

Gene ID: 53321, updated on 8-Feb-2024

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
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Genomic context

See Cntnap1 in Genome Data Viewer
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_000077.7Genomic Context describing neighboring genes Neighboring gene tubulin, gamma 2 Neighboring gene pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 Neighboring gene C-C motif chemokine receptor 10 Neighboring gene enhancer of zeste 1 polycomb repressive complex 2 subunit Neighboring gene receptor (calcitonin) activity modifying protein 2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
shambling
GeneReviews: Not available

Variation

Alleles

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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
 
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 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

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)

  1. NM_016782.2NP_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:13051323
    4.1m; putative band 4.1 homologues' binding motif
    smart00282
    Location:200332
    LamG; Laminin G domain
    cd00057
    Location:37168
    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:363514
    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:585659
    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:545574
    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

  1. NC_000077.7 Reference GRCm39 C57BL/6J

    Range
    101065429..101081550
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/TrEMBL
    Q3U428
    Conserved Domains (6) summary
    smart00294
    Location:12281246
    4.1m; putative band 4.1 homologues' binding motif
    smart00282
    Location:123255
    LamG; Laminin G domain
    cd00057
    Location:191
    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:286437
    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:468497
    EGF; EGF-like domain
    cl00085
    Location:508582
    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 ...
  2. XM_030246150.1XP_030102010.1  contactin-associated protein 1 isoform X1

    UniProtKB/Swiss-Prot
    A2A4K6, O54991
    UniProtKB/TrEMBL
    Q3U428
    Conserved Domains (6) summary
    smart00294
    Location:13051323
    4.1m; putative band 4.1 homologues' binding motif
    smart00282
    Location:200332
    LamG; Laminin G domain
    cd00057
    Location:37168
    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:363514
    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:585659
    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:545574
    EGF; EGF-like domain
  3. XM_036156843.1XP_036012736.1  contactin-associated protein 1 isoform X3

    Conserved Domains (5) summary
    smart00294
    Location:968986
    4.1m; putative band 4.1 homologues' binding motif
    smart00282
    Location:747882
    LamG; Laminin G domain
    cd00110
    Location:26177
    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:208237
    EGF; EGF-like domain
    cl00085
    Location:248322
    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 ...
  4. XM_036156842.1XP_036012735.1  contactin-associated protein 1 isoform X2

    UniProtKB/TrEMBL
    Q3U428
    Conserved Domains (6) summary
    smart00294
    Location:12281246
    4.1m; putative band 4.1 homologues' binding motif
    smart00282
    Location:123255
    LamG; Laminin G domain
    cd00057
    Location:191
    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:286437
    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:468497
    EGF; EGF-like domain
    cl00085
    Location:508582
    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 ...
  5. XM_006533729.4XP_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:12281246
    4.1m; putative band 4.1 homologues' binding motif
    smart00282
    Location:123255
    LamG; Laminin G domain
    cd00057
    Location:191
    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:286437
    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:468497
    EGF; EGF-like domain
    cl00085
    Location:508582
    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 ...

RNA

  1. XR_003949478.1 RNA Sequence