Aliases for CNTNAP1 Gene
Aliases for CNTNAP1 Gene
External Ids for CNTNAP1 Gene
- HGNC: 8011
- Entrez Gene: 8506
- Ensembl: ENSG00000108797
- OMIM: 602346
- UniProtKB: P78357
Previous HGNC Symbols for CNTNAP1 Gene
- NRXN4
Previous GeneCards Identifiers for CNTNAP1 Gene
- GC17P040350
- GC17P042999
- GC17P040743
- GC17P041207
- GC17P038088
- GC17P040835
- GC17P036601
Summaries for CNTNAP1 Gene
-
The gene product was initially identified as a 190-kD protein associated with the contactin-PTPRZ1 complex. The 1,384-amino acid protein, also designated p190 or CASPR for 'contactin-associated protein,' includes an extracellular domain with several putative protein-protein interaction domains, a putative transmembrane domain, and a 74-amino acid cytoplasmic domain. Northern blot analysis showed that the gene is transcribed predominantly in brain as a transcript of 6.2 kb, with weak expression in several other tissues tested. The architecture of its extracellular domain is similar to that of neurexins, and this protein may be the signaling subunit of contactin, enabling recruitment and activation of intracellular signaling pathways in neurons. [provided by RefSeq, Jan 2009]
GeneCards Summary for CNTNAP1 Gene
CNTNAP1 (Contactin Associated Protein 1) is a Protein Coding gene. Diseases associated with CNTNAP1 include Lethal Congenital Contracture Syndrome 7 and Arthrogryposis Multiplex Congenita, Neurogenic, With Myelin Defect. Among its related pathways are Developmental Biology and Neuroscience. Gene Ontology (GO) annotations related to this gene include SH3/SH2 adaptor activity. An important paralog of this gene is CNTNAP2.
UniProtKB/Swiss-Prot for CNTNAP1 Gene
-
Required, with CNTNAP2, for radial and longitudinal organization of myelinated axons. Plays a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Demarcates the paranodal region of the axo-glial junction. In association with contactin involved in the signaling between axons and myelinating glial cells.
Additional gene information for CNTNAP1 Gene
- Monarch Initiative
- Search for CNTNAP1 at DataMed
- Search for CNTNAP1 at HumanCyc
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CNTNAP1 Gene
Genomics for CNTNAP1 Gene
GeneHancer (GH) Regulatory Elements for CNTNAP1 Gene
Promoters and enhancers for CNTNAP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around CNTNAP1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the CNTNAP1 gene promoter:
Regulatory Element Products
Genomic Locations for CNTNAP1 Gene
Genomic Locations for CNTNAP1 Gene
- chr17:42,682,613-42,699,993
- (GRCh38/hg38)
- Size:
- 17,381 bases
- Orientation:
- Plus strand
- chr17:40,834,631-40,852,011
- (GRCh37/hg19)
Genomic View for CNTNAP1 Gene
Genes around CNTNAP1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q21.2 by Entrez Gene
- 17q21.2 by HGNC
- 17q21.2 by Ensembl
CNTNAP1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CNTNAP1 Gene
Proteins for CNTNAP1 Gene
-
Protein details for CNTNAP1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P78357-CNTP1_HUMAN
- Recommended name:
- Contactin-associated protein 1
- Protein Accession:
- P78357
Protein attributes for CNTNAP1 Gene
- Size:
- 1384 amino acids
- Molecular mass:
- 156267 Da
- Quaternary structure:
-
- Interacts with CNTN1/contactin in cis form.
Protein Expression for CNTNAP1 Gene
Post-translational modifications for CNTNAP1 Gene
Other Protein References for CNTNAP1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for CNTNAP1 (Caspr1)
- Novus Biologicals Antibodies for CNTNAP1
- Invitrogen Antibodies for CNTNAP1
- antibodies-online: Search results for 61 available CNTNAP1 Antibodies ranked by validation data
- Compare Top CNTNAP1 Antibodies
-
Recommended
- 18 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 4 IHC (p) Antibodies (anti-human)
- 1 IHC Antibody (anti-human)
- 28 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 3 IHC (p) Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-mouse)
- 7 WB Antibodies (anti-mouse)
- 3 IHC (p) Antibodies (anti-mouse)
- GeneTex CNTNAP1 Antibody for CNTNAP1
-
Boster Bio Antibodies for CNTNAP1
-
Santa Cruz Biotechnology (SCBT) Antibodies for CNTNAP1
Protein Products
-
OriGene Purified Proteins for CNTNAP1
- Search Origene for MassSpec and Protein Over-expression Lysates for CNTNAP1
- Origene Custom Protein Services for CNTNAP1
- Search GeneTex for Proteins for CNTNAP1
Assay Products
No data available for DME Specific Peptides for CNTNAP1 Gene
Domains & Families for CNTNAP1 Gene
Gene Families for CNTNAP1 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted membrane proteins
Protein Domains for CNTNAP1 Gene
Suggested Antigen Peptide Sequences for CNTNAP1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P78357- Family:
-
- Belongs to the neurexin family.
Function for CNTNAP1 Gene
Molecular function for CNTNAP1 Gene
- UniProtKB/Swiss-Prot Function:
- Required, with CNTNAP2, for radial and longitudinal organization of myelinated axons. Plays a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Demarcates the paranodal region of the axo-glial junction. In association with contactin involved in the signaling between axons and myelinating glial cells.
Phenotypes From GWAS Catalog for CNTNAP1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005070 | SH3/SH2 adaptor activity | TAS | 9118959 |
| GO:0005515 | protein binding | IPI | 17474147 |
| GO:0017124 | SH3 domain binding | ISS | -- |
| GO:0038023 | signaling receptor activity | TAS | 9118959 |
Phenotypes for CNTNAP1 Gene
- MGI mutant phenotypes for CNTNAP1:
- inferred from 9 alleles
- GenomeRNAi human phenotypes for CNTNAP1:
-
- Decreased viability in esophageal squamous lineage
- Decreased Salmonella enterica Typhimurium invasion
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Resistant to vaccinia virus (VACV-A4L) infection
- Synthetic lethal with Ras
- Increased viability
- Increased transferrin (TF) endocytosis
- Synthetic lethal with vaccinia virus (VACV) infection
Animal Models for CNTNAP1 Gene
- MGI Knock Outs for CNTNAP1:
-
- Cntnap1 Cntnap1<tm1Bhat>
- Cntnap1 Cntnap1<tm1Pele>
- Ccr10/Cntnap1 Ccr10/Cntnap1<tm1Bhat>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CNTNAP1
-
CRISPR Products
-
OriGene CRISPR knockouts for CNTNAP1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CNTNAP1
- genomics-online: gRNA clones - Search results for 65 available CNTNAP1 gene related products
- Overview of 65 available CNTNAP1 gene related products
- Applied Biological Materials CRISPR for CNTNAP1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CNTNAP1
- GenScript: Design CRISPR guide RNA sequences for CNTNAP1
miRNA for CNTNAP1 Gene
- miRTarBase miRNAs that target CNTNAP1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CNTNAP1
- Browse OriGene Inhibitory RNA Products For CNTNAP1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNTNAP1
- genomics-online: shRNA clones - Search results for 65 available CNTNAP1 gene related products
- Overview of 65 available CNTNAP1 gene related products
Clone Products
- VectorBuilder custom plasmid, inducible vectors for CNTNAP1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CNTNAP1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CNTNAP1
- Applied Biological Materials Clones for CNTNAP1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for CNTNAP1 (Caspr1)
Cell Line Products
-
Horizon Cell Lines for CNTNAP1
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CNTNAP1 Gene
Localization for CNTNAP1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CNTNAP1 Gene
- Membrane; Single-pass type I membrane protein. Cell junction, paranodal septate junction.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 2 |
| nucleus | 2 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| lysosome | 1 |
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005887 | integral component of plasma membrane | TAS | 9118959 |
| GO:0008076 | colocalizes_with voltage-gated potassium channel complex | ISS,IEA | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | ISS,IEA | -- |
| GO:0030054 | cell junction | IEA | -- |
Pathways & Interactions for CNTNAP1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Developmental Biology |
.51
|
|
| 2 | L1CAM interactions | ||
| 3 | Cell adhesion molecules (CAMs) | ||
| 4 | Neuroscience | ||
Pathways by source for CNTNAP1 Gene
4 Reactome pathways for CNTNAP1 Gene
1 KEGG pathway for CNTNAP1 Gene
1 Cell Signaling Technology pathway for CNTNAP1 Gene
Interacting Proteins for CNTNAP1 Gene
Selected Interacting proteins:
P78357-CNTP1_HUMAN
ENSP00000264638
for CNTNAP1 Gene via
IID
UniProtKB
STRING
GPS-Prot Interaction Network for CNTNAP1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002175 | protein localization to paranode region of axon | ISS | -- |
| GO:0007010 | cytoskeleton organization | IEA,ISS | -- |
| GO:0007155 | cell adhesion | IEA | -- |
| GO:0007165 | signal transduction | TAS | 9118959 |
| GO:0009967 | positive regulation of signal transduction | IEA | -- |
No data available for SIGNOR curated interactions for CNTNAP1 Gene
Transcripts for CNTNAP1 Gene
mRNA/cDNA for CNTNAP1 Gene
- (88) Selected AceView cDNA sequences:
- (2) Additional mRNA sequences :
- (4) REFSEQ mRNAs :
- (4) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000264638 5276 bps (uc002iay.4)
- ENST00000585534 613 bps (uc060flz.1)
- ENST00000586801 838 bps (uc060fly.1)
- ENST00000591662 4499 bps (uc060flw.1)
Unigene Clusters for CNTNAP1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for CNTNAP1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CNTNAP1
- genomics-online: gRNA clones - Search results for 65 available CNTNAP1 gene related products
- Overview of 65 available CNTNAP1 gene related products
- Applied Biological Materials CRISPR for CNTNAP1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CNTNAP1
- GenScript: Design CRISPR guide RNA sequences for CNTNAP1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CNTNAP1
- Browse OriGene Inhibitory RNA Products For CNTNAP1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNTNAP1
- genomics-online: shRNA clones - Search results for 65 available CNTNAP1 gene related products
- Overview of 65 available CNTNAP1 gene related products
Clone Products
- VectorBuilder custom plasmid, inducible vectors for CNTNAP1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CNTNAP1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CNTNAP1
- Applied Biological Materials Clones for CNTNAP1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for CNTNAP1 (Caspr1)
Expression for CNTNAP1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
mRNA differential expression in normal tissues according to GTEx for CNTNAP1 Gene
This gene is overexpressed in Brain - Cortex (x4.4) and Brain - Cerebellum (x4.0).
This gene is overexpressed in Frontal cortex (44.1), Brain (10.0), and Spinal cord (9.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CNTNAP1 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of CNTNAP1 Gene:
CNTNAP1SOURCE GeneReport for Unigene cluster for CNTNAP1 Gene:
Hs.408730mRNA Expression by UniProt/SwissProt for CNTNAP1 Gene:
P78357-CNTP1_HUMAN
Tissue specificity:
Predominantly expressed in brain. Weak expression detected in ovary, pancreas, colon, lung, heart, intestine and testis.
Evidence on tissue expression from TISSUES for CNTNAP1 Gene
- Nervous system(3.5)
- Eye(2.4)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CNTNAP1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- face
- head
Thorax:
- lung
Pelvis:
- placenta
- uterus
Limb:
- ankle
- digit
- elbow
- finger
- foot
- hand
- hip
- knee
- lower limb
- shoulder
- toe
- upper limb
- wrist
General:
- peripheral nerve
- peripheral nervous system
Primer Products
-
OriGene qPCR primer pairs for CNTNAP1
Gene Expression Assay Products
Orthologs for CNTNAP1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CNTNAP1 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | CNTNAP1 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | CNTNAP1 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Cntnap1 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Cntnap1 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | CNTNAP1 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | CNTNAP1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CNTNAP1 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | CNTNAP1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | cntnap1 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC566220 33 |
|
||
| CNTNAP1 34 |
|
OneToOne | |||
| fruit fly (Drosophila melanogaster) |
Insecta | Nrx-IV 34 |
|
OneToOne | |
| Nrx 35 |
|
|
|||
| worm (Caenorhabditis elegans) |
Secernentea | nlr-1 34 |
|
OneToOne |
- Species where no ortholog for CNTNAP1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for CNTNAP1 Gene
- ENSEMBL:
- Gene Tree for CNTNAP1 (if available)
- TreeFam:
- Gene Tree for CNTNAP1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CNTNAP1: view image
Paralogs for CNTNAP1 Gene
Paralogs for CNTNAP1 Gene
(9) SIMAP similar genes for CNTNAP1 Gene using alignment to 3 proteins:
- CNTP1_HUMAN
- K7EMM9_HUMAN
- L8E7H9_HUMAN
Variants for CNTNAP1 Gene
| SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs746361190 | likely-pathogenic, Lethal congenital contracture syndrome 7 | 42,691,905(+) | C/A | coding_sequence_variant, missense_variant | |
| rs751050956 | pathogenic, Lethal congenital contracture syndrome 7, not provided | 42,693,445(+) | CT/ | coding_sequence_variant, frameshift | |
| rs768554986 | pathogenic, Lethal congenital contracture syndrome 7, Lethal congenital contracture syndrome 7 (LCCS7) [MIM:616286] | 42,686,969(+) | T/C | coding_sequence_variant, missense_variant | |
| rs786204799 | pathogenic, Lethal congenital contracture syndrome 7 | 42,695,535(+) | TTT/TTTT | coding_sequence_variant, stop_gained | |
| rs786204800 | pathogenic, Lethal congenital contracture syndrome 7 | 42,695,519(+) | AGATA/A | coding_sequence_variant, splice_acceptor_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv1007587 | CNV | deletion | 20482838 |
| esv33998 | OTHER | inversion | 15654335 |
| nsv1146669 | OTHER | inversion | 26484159 |
| nsv833450 | CNV | loss | 17160897 |
| nsv953899 | CNV | deletion | 24416366 |
Residual Variation Intolerance Score:
0.735% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.83;
58.60% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CNTNAP1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CNTNAP1 Gene
Disorders for CNTNAP1 Gene
(8) MalaCards diseases for CNTNAP1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| lethal congenital contracture syndrome 7 |
|
|
| arthrogryposis multiplex congenita, neurogenic, with myelin defect |
|
|
| charcot-marie-tooth disease |
|
|
| autoimmune neuropathy |
|
|
| autoimmune disease of central nervous system |
|
|
Search CNTNAP1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CNTP1_HUMAN- Lethal congenital contracture syndrome 7 (LCCS7) [MIM:616286]: A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non-progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS7 is a severe axoglial disease characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and motor paralysis leading to death early in the neonatal period. {ECO:0000269 PubMed:24319099, ECO:0000269 PubMed:27782105, ECO:0000269 PubMed:28254648, ECO:0000269 PubMed:28374019}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Note=Defects in CNTNAP1 are associated with congenital hypomyelinating neuropathy (CHN). Patients show polyhydramnios and reduced fetal movements, they were hypotonic and required ventilatory support at birth. But no arthrogryposis is noted. Patients die often early in the neonatal period. {ECO:0000269 PubMed:27668699, ECO:0000269 PubMed:27818385, ECO:0000269 PubMed:28374019}.
Additional Disease Information for CNTNAP1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for CNTNAP1 Gene
Publications for CNTNAP1 Gene
- Identification of a novel contactin-associated transmembrane receptor with multiple domains implicated in protein-protein interactions. (PMID: 9118959) Peles E … Schlessinger J (The EMBO journal 1997) 2 3 4 58
- Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy. (PMID: 28254648) Lakhani S … Ben-Omran T (European journal of medical genetics 2017) 3 4 58
- CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis. (PMID: 28374019) Hengel H … Schöls L (Neurology. Genetics 2017) 3 4 58
- Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region. (PMID: 27818385) Vallat JM … Mathis S (Journal of neuropathology and experimental neurology 2016) 3 4 58
- Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy. (PMID: 27782105) Nizon M … Isidor B (European journal of human genetics : EJHG 2016) 3 4 58
Products for CNTNAP1 Gene
- R&D Systems Antibodies for CNTNAP1 (Caspr1)
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- R&D Systems cDNA Clones for CNTNAP1 (Caspr1)
- Browse Human Proteins and Enzymes
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for CNTNAP1
- Search Origene for MassSpec and Protein Over-expression Lysates for CNTNAP1
- Origene Custom Protein Services for CNTNAP1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CNTNAP1
- Browse OriGene Inhibitory RNA Products For CNTNAP1
- OriGene qPCR primer pairs for CNTNAP1
- OriGene CRISPR knockouts for CNTNAP1
- OriGene ORF clones in human for CNTNAP1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For CNTNAP1
- GenScript: Next-day shipping of latest version cDNA ORF clones for CNTNAP1 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for CNTNAP1
- GenScript Custom Assay Services for CNTNAP1
- GenScript Custom overexpressing Cell Line Services for CNTNAP1
- GenScript: Design CRISPR guide RNA sequences for CNTNAP1
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for CNTNAP1
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse Sino Biological ELISA Kits
- Browse Sino Biological ELISA Pair Sets
- Browse Sino Biological CRO Services
- Browse Sino Biological Control Vectors
- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for CNTNAP1
- Novus Biologicals lysates and proteins for CNTNAP1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- VectorBuilder custom plasmid, inducible vectors for CNTNAP1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CNTNAP1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 61 available CNTNAP1 Antibodies ranked by validation data
- Compare Top CNTNAP1 Antibodies
- Recommended
- 18 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 4 IHC (p) Antibodies (anti-human)
- 1 IHC Antibody (anti-human)
- 28 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 3 IHC (p) Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-mouse)
- 7 WB Antibodies (anti-mouse)
- 3 IHC (p) Antibodies (anti-mouse)
- antibodies-online: Search results for 17 available CNTNAP1 Elisa Kits ranked by validation data
- Compare Top CNTNAP1 Elisa Kits
- antibodies-online: Search results for 8 available CNTNAP1 Proteins ranked by validation data
- Compare Top CNTNAP1 Proteins
- GeneTex CNTNAP1 Antibody for CNTNAP1
- Search GeneTex for Proteins for CNTNAP1
- Santa Cruz Biotechnology (SCBT) Antibodies for CNTNAP1
- Search Santa Cruz Biotechnology (SCBT) for CNTNAP1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for CNTNAP1
- Horizon Cell Lines for CNTNAP1
- genomics-online: cdna clones - Search results for 65 available CNTNAP1 gene related products
- Overview of 65 available CNTNAP1 gene related products
- orf clones - Search results for 65 available CNTNAP1 gene related products
- Overview of 65 available CNTNAP1 gene related products
- genomics-online: gRNA clones - Search results for 65 available CNTNAP1 gene related products
- Overview of 65 available CNTNAP1 gene related products
- genomics-online: primer clones - Search results for 65 available CNTNAP1 gene related products
- Overview of 65 available CNTNAP1 gene related products
- genomics-online: shRNA clones - Search results for 65 available CNTNAP1 gene related products
- Overview of 65 available CNTNAP1 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CNTNAP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CNTNAP1
- GeneCopoeia miRNA 3'UTR Target clone products for CNTNAP1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNTNAP1
- Boster Bio Antibodies for CNTNAP1
- Browse Boster Bio ELISA Kits
Sources for CNTNAP1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio