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Aliases for CNTNAP1 Gene

Aliases for CNTNAP1 Gene

  • Contactin Associated Protein 1 2 3 5
  • Neurexin IV 3 4
  • Neurexin-4 3 4
  • Caspr1 3 4
  • NRXN4 3 4
  • CASPR 3 4
  • P190 3 4
  • Neurexin 4 2
  • CNTNAP 3

External Ids for CNTNAP1 Gene

Previous HGNC Symbols for CNTNAP1 Gene

  • NRXN4

Previous GeneCards Identifiers for CNTNAP1 Gene

  • GC17P040350
  • GC17P042999
  • GC17P040743
  • GC17P041207
  • GC17P038088
  • GC17P040835
  • GC17P036601

Summaries for CNTNAP1 Gene

Entrez Gene Summary 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 autism susceptibility 15. Among its related pathways are Cell adhesion molecules (CAMs) and Developmental Biology. GO annotations related to this gene include receptor activity and SH3/SH2 adaptor activity. An important paralog of this gene is CNTNAP3B.

UniProtKB/Swiss-Prot for CNTNAP1 Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CNTNAP1 Gene

Genomics for CNTNAP1 Gene

Regulatory Elements for CNTNAP1 Gene

Enhancers for CNTNAP1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CNTNAP1 on UCSC Golden Path with GeneCards custom track

Promoters for CNTNAP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CNTNAP1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the CNTNAP1 gene promoter:

Genomic Location for CNTNAP1 Gene

Chromosome:
17
Start:
42,682,613 bp from pter
End:
42,699,993 bp from pter
Size:
17,381 bases
Orientation:
Plus strand

Genomic View for CNTNAP1 Gene

Genes around CNTNAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CNTNAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CNTNAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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 contactin in cis form.

neXtProt entry for CNTNAP1 Gene

Proteomics data for CNTNAP1 Gene at MOPED

Post-translational modifications for CNTNAP1 Gene

  • Glycosylation at Asn 120, Asn 128, Asn 276, Asn 420, Asn 499, Asn 518, Asn 597, Asn 653, Asn 664, Asn 763, Asn 804, Asn 843, Asn 860, Asn 948, Asn 956, Asn 1078, and Asn 1147
  • Modification sites at PhosphoSitePlus

Other Protein References for CNTNAP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cloud-Clone Corp. Antibodies for CNTNAP1

No data available for DME Specific Peptides for CNTNAP1 Gene

Domains & Families for CNTNAP1 Gene

Suggested Antigen Peptide Sequences for CNTNAP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P78357

UniProtKB/Swiss-Prot:

CNTP1_HUMAN :
  • Contains 2 EGF-like domains.
  • Belongs to the neurexin family.
Domain:
  • Contains 2 EGF-like domains.
  • Contains 1 F5/8 type C domain.
  • Contains 1 fibrinogen C-terminal domain.
  • Contains 4 laminin G-like domains.
Family:
  • Belongs to the neurexin family.
genes like me logo Genes that share domains with CNTNAP1: view

No data available for Gene Families for CNTNAP1 Gene

Function for CNTNAP1 Gene

Molecular function for CNTNAP1 Gene

UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with CNTNAP1: view

Human Phenotype Ontology for CNTNAP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CNTNAP1 Gene

MGI Knock Outs for CNTNAP1:

Animal Model Products

CRISPR Products

miRNA for CNTNAP1 Gene

miRTarBase miRNAs that target CNTNAP1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CNTNAP1 Gene COMPARTMENTS Subcellular localization image for CNTNAP1 gene
Compartment Confidence
plasma membrane 5
extracellular 2
nucleus 2
cytoskeleton 1
lysosome 1
mitochondrion 1
peroxisome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for CNTNAP1 Gene

Pathways & Interactions for CNTNAP1 Gene

genes like me logo Genes that share pathways with CNTNAP1: view

Pathways by source for CNTNAP1 Gene

1 KEGG pathway for CNTNAP1 Gene

Gene Ontology (GO) - Biological Process for CNTNAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization IEA,ISS --
GO:0007155 cell adhesion IEA --
GO:0007411 axon guidance TAS --
GO:0031175 neuron projection development IEA --
GO:0050884 neuromuscular process controlling posture IEA --
genes like me logo Genes that share ontologies with CNTNAP1: view

No data available for SIGNOR curated interactions for CNTNAP1 Gene

Drugs & Compounds for CNTNAP1 Gene

(2) Drugs for CNTNAP1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for CNTNAP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CNTNAP1: view

Transcripts for CNTNAP1 Gene

mRNA/cDNA for CNTNAP1 Gene

Unigene Clusters for CNTNAP1 Gene

Contactin associated protein 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CNTNAP1 Gene

No ASD Table

Relevant External Links for CNTNAP1 Gene

GeneLoc Exon Structure for
CNTNAP1
ECgene alternative splicing isoforms for
CNTNAP1

Expression for CNTNAP1 Gene

mRNA expression in normal human tissues for CNTNAP1 Gene

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).

Protein differential expression in normal tissues from HIPED for CNTNAP1 Gene

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, PaxDb, MOPED, and MaxQB for CNTNAP1 Gene



SOURCE GeneReport for Unigene cluster for CNTNAP1 Gene Hs.408730

mRNA 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.
genes like me logo Genes that share expression patterns with CNTNAP1: view

Protein tissue co-expression partners for CNTNAP1 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for CNTNAP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CNTNAP1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CNTNAP1 35
  • 90.58 (n)
  • 96.03 (a)
CNTNAP1 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CNTNAP1 35
  • 90.97 (n)
  • 96.22 (a)
CNTNAP1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cntnap1 35
  • 87.93 (n)
  • 93.35 (a)
Cntnap1 16
Cntnap1 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CNTNAP1 35
  • 99.76 (n)
  • 100 (a)
CNTNAP1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cntnap1 35
  • 87.9 (n)
  • 93.77 (a)
oppossum
(Monodelphis domestica)
Mammalia CNTNAP1 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CNTNAP1 36
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves CNTNAP1 35
  • 70.22 (n)
  • 66.98 (a)
CNTNAP1 36
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CNTNAP1 36
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cntnap1 35
  • 60.74 (n)
  • 59 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC566220 35
  • 57.55 (n)
  • 51.96 (a)
CNTNAP1 36
  • 50 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Nrx 37
  • 29 (a)
Nrx-IV 36
  • 30 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea nlr-1 36
  • 22 (a)
OneToOne
Species with no ortholog for CNTNAP1:
  • 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)

Paralogs for CNTNAP1 Gene

Paralogs for CNTNAP1 Gene

(9) SIMAP similar genes for CNTNAP1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CNTNAP1: view

Variants for CNTNAP1 Gene

Sequence variations from dbSNP and Humsavar for CNTNAP1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs35437096 - 42,688,983(+) CTCTG(C/G)TGGAG reference, missense
rs1046888 -- 42,699,186(+) GTTGA(C/T)ATAGG utr-variant-3-prime
rs2134806 -- 42,686,495(+) TTTTG(G/T)GGGTG intron-variant
rs874640 -- 42,691,374(+) ATCCT(G/T)CCCCC intron-variant
rs2174275 -- 42,686,540(+) TTTCA(A/G)AACTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CNTNAP1 Gene

Variant ID Type Subtype PubMed ID
esv33998 OTHER Inversion 15654335
nsv833450 CNV Loss 17160897
esv1007587 CNV Deletion 20482838

Variation tolerance for CNTNAP1 Gene

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)

Relevant External Links for CNTNAP1 Gene

HapMap Linkage Disequilibrium report
CNTNAP1
Human Gene Mutation Database (HGMD)
CNTNAP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CNTNAP1 Gene

Disorders for CNTNAP1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for CNTNAP1 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
lethal congenital contracture syndrome 7
  • lccs7
autism susceptibility 15
  • autism 15
cortical dysplasia-focal epilepsy syndrome
  • pitt-hopkins like syndrome 1
hypomyelination neuropathy-arthrogryposis syndrome
  • boylan-dew syndrome
childhood pilocytic astrocytoma
  • pediatric pilocytic astrocytoma
- elite association - COSMIC cancer census association via MalaCards

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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CNTNAP1

Genetic Association Database (GAD)
CNTNAP1
Human Genome Epidemiology (HuGE) Navigator
CNTNAP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CNTNAP1
genes like me logo Genes that share disorders with CNTNAP1: view

No data available for Genatlas for CNTNAP1 Gene

Publications for CNTNAP1 Gene

  1. Identification of a novel contactin-associated transmembrane receptor with multiple domains implicated in protein-protein interactions. (PMID: 9118959) Peles E. … Schlessinger J. (EMBO J. 1997) 2 3 4 67
  2. Caspr1/Paranodin/Neurexin IV is most likely not a common disease-causing gene for inherited peripheral neuropathies. (PMID: 11496158) Venken K. … Timmerman V. (Neuroreport 2001) 3 23
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. (PMID: 24319099) LaquAcrriere A. … Melki J. (Hum. Mol. Genet. 2014) 3
  5. Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study. (PMID: 23192594) Velez Edwards D.R. … Edwards T.L. (Hum. Genet. 2013) 3

Products for CNTNAP1 Gene

Sources for CNTNAP1 Gene

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