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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
  • Contactin-Associated Protein 1 3
  • Neurexin 4 2
  • CNTNAP 3
  • Caspr 4

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 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

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
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J042672 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 704.7 -3.9 -3915 11.4 MLX ZFP64 DMAP1 YBX1 YY1 SLC30A9 ZNF213 ZNF143 ZNF263 SP3 CNTNAP1 CCR10 PLEKHH3 ENSG00000267042 DHX8 TUBG2 HMGN1P29 ENSG00000267758 ENSG00000267002 ENSG00000266962
GH17J042684 Enhancer 0.2 ENCODE 650.7 +1.9 1896 0.1 CCR10 GC17M042684 CNTNAP1 PSMC3IP HMGN2P15 RAMP2 RAMP2-AS1 VPS25 ENSG00000267765
GH17J042565 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 40.9 -115.2 -115175 3.4 HDGF SMAD1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 MLX CNTNAP1 TUBG2 CAVIN1 FKBP10 ENSG00000259623 VAT1 ENSG00000267765 RPL27 HSD17B1P1
GH17J041687 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 31.7 -992.2 -992214 6.1 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 EIF1 GC17P041692 GC17P041691 ENSG00000267758 ENSG00000259623 KLHL10 CNTNAP1 HSD17B1 NT5C3B KAT2A
GH17J042266 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 21.8 -410.2 -410173 12.8 MLX FEZF1 DMAP1 YY1 E2F8 SP3 MEF2D GLIS1 RCOR2 NBN STAT5B ENSG00000236194 CNTNAP1 TUBG2 ENSG00000267002 ENSG00000259623 ENSG00000267340 HSD17B1 ENSG00000267765 EZH1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CNTNAP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CNTNAP1 gene promoter:
  • ATF-2
  • c-Jun
  • AML1a

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)
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 CNTN1/contactin in cis form.

neXtProt entry for CNTNAP1 Gene

Post-translational modifications for CNTNAP1 Gene

  • Glycosylation at Asn1147, Asn1078, Asn956, posLast=948948, posLast=860860, posLast=843843, Asn804, Asn763, Asn664, posLast=653653, posLast=597597, posLast=518518, Asn499, posLast=420420, posLast=276276, posLast=128128, and Asn120
  • Modification sites at PhosphoSitePlus

Other Protein References for CNTNAP1 Gene

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

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 :
  • Belongs to the neurexin family.
Family:
  • Belongs to the neurexin family.
genes like me logo Genes that share domains with CNTNAP1: view

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

Gene Ontology (GO) - Molecular Function 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
genes like me logo Genes that share ontologies with CNTNAP1: view
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

miRNA for CNTNAP1 Gene

miRTarBase miRNAs that target CNTNAP1

Clone Products

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CNTNAP1 gene
Compartment Confidence
plasma membrane 5
extracellular 2
nucleus 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CNTNAP1 Gene

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 --
genes like me logo Genes that share ontologies with CNTNAP1: view

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
1 Cell Signaling Technology pathway for CNTNAP1 Gene

Gene Ontology (GO) - Biological Process for CNTNAP1 Gene

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 --
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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for CNTNAP1 Gene



Protein tissue co-expression partners for CNTNAP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CNTNAP1 Gene:

CNTNAP1

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.

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

Orthologs for CNTNAP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CNTNAP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CNTNAP1 34 33
  • 99.76 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CNTNAP1 34 33
  • 90.97 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CNTNAP1 34 33
  • 90.58 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cntnap1 16 34 33
  • 87.93 (n)
rat
(Rattus norvegicus)
Mammalia Cntnap1 33
  • 87.9 (n)
oppossum
(Monodelphis domestica)
Mammalia CNTNAP1 34
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CNTNAP1 34
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves CNTNAP1 34 33
  • 70.22 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CNTNAP1 34
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cntnap1 33
  • 60.74 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC566220 33
  • 57.55 (n)
CNTNAP1 34
  • 50 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Nrx-IV 34
  • 30 (a)
OneToOne
Nrx 35
  • 29 (a)
worm
(Caenorhabditis elegans)
Secernentea nlr-1 34
  • 22 (a)
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

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

  • CNTP1_HUMAN
  • K7EMM9_HUMAN
  • L8E7H9_HUMAN
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 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

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

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

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)

Additional Variant Information for CNTNAP1 Gene

Human Gene Mutation Database (HGMD)
CNTNAP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CNTNAP1

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

Disorders for CNTNAP1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for CNTNAP1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- 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, 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
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 (The EMBO journal 1997) 2 3 4 58
  2. 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
  3. CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis. (PMID: 28374019) Hengel H … Schöls L (Neurology. Genetics 2017) 3 4 58
  4. 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
  5. 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

Sources for CNTNAP1 Gene

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