CNTNAP1 Gene (Protein Coding)

Contactin Associated Protein 1

GC17P042680
GIFtS:
44
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 bl... See more...

Aliases for CNTNAP1 Gene

Aliases for CNTNAP1 Gene

  • Contactin Associated Protein 1 2 3 5
  • Contactin-Associated Protein 1 3 4
  • 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
  • Caspr 4
  • CHN3 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 Neuropathy, Congenital Hypomyelinating, 3. Among its related pathways are Cell adhesion molecules (CAMs) and L1CAM interactions. Gene Ontology (GO) annotations related to this gene include SH3/SH2 adaptor activity. An important paralog of this gene is CNTNAP2.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification 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 from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CNTNAP1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CNTNAP1

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

Genomic Locations for CNTNAP1 Gene

Genomic Locations for CNTNAP1 Gene
chr17:42,682,531-42,699,993
(GRCh38/hg38)
Size:
17,463 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 Structure • Gene Density

RefSeq DNA sequence for CNTNAP1 Gene

Proteins for CNTNAP1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for CNTNAP1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CNTNAP1 Gene

  • Glycosylation at Asn120, Asn128, Asn276, Asn420, Asn499, Asn518, Asn597, Asn653, Asn664, Asn763, Asn804, Asn843, Asn860, Asn948, Asn956, Asn1078, and Asn1147
  • Modification sites at PhosphoSitePlus

Other Protein References for CNTNAP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CNTNAP1 Gene

Domains & Families for CNTNAP1 Gene

Gene Families for CNTNAP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for CNTNAP1 Gene

Blocks:
  • Type I EGF
  • Coagulation factor 5/8 type C domain (FA58C)
  • Laminin G
  • Neurexin/syndecan/glycophorin C
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CNTNAP1 Gene

GenScript: Design optimal peptide antigens:
  • p190 (CNTP1_HUMAN)

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

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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

CRISPR 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 3
nucleus 3
cytoskeleton 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
See all subcellular structures

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:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,ISS --
GO:0030054 cell junction IEA --
GO:0030424 axon 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

Products:

  1. Drug

(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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CNTNAP1 Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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

Expression for CNTNAP1 Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CNTNAP1 Gene

mRNA expression in normal human tissues for CNTNAP1 Gene
mRNA expression by GTEx for CNTNAP1 GenemRNA expression by BioGPS 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31 30
  • 99.76 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia CNTNAP1 31 30
  • 90.97 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia CNTNAP1 31 30
  • 90.58 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Cntnap1 17 31 30
  • 87.93 (n)
rat
(Rattus norvegicus)
 Mammalia Cntnap1 30
  • 87.9 (n)
oppossum
(Monodelphis domestica)
 Mammalia CNTNAP1 31
  • 78 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia CNTNAP1 31
  • 45 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves CNTNAP1 31 30
  • 70.22 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia CNTNAP1 31
  • 60 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia cntnap1 30
  • 60.74 (n)
zebrafish
(Danio rerio)
 Actinopterygii LOC566220 30
  • 57.55 (n)
CNTNAP1 31
  • 50 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta Nrx-IV 31
  • 30 (a)
 OneToOne
Nrx 32
  • 29 (a)
worm
(Caenorhabditis elegans)
 Secernentea nlr-1 31
  • 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

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

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CNTNAP1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
691418 Uncertain Significance: Pyloric stenosis; Esophageal atresia 42,679,933(+) C/A MISSENSE_VARIANT
692016 Pathogenic: Lethal congenital contracture syndrome 7 42,692,636(+) C/T NONSENSE
692274 Pathogenic: Fetal akinesia sequence; Arthrogryposis multiplex congenita 42,683,822(+) C/G NONSENSE
692275 Likely Pathogenic: Fetal akinesia sequence; Arthrogryposis multiplex congenita 42,690,789(+) G/A MISSENSE_VARIANT
712209 Benign: not provided 42,693,523(+) A/G SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for CNTNAP1 Gene

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

(18) MalaCards diseases for CNTNAP1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, 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.
  • Neuropathy, congenital hypomyelinating, 3 (CHN3) [MIM:618186]: A form of congenital hypomyelinating neuropathy, a neurologic disorder characterized by early-onset hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities (NCV) resulting from improper myelination of axons. In its extreme form, it may present with severe joint contractures or arthrogryposis multiplex congenita and respiratory insufficiency. In less severe cases patients may achieve walking. Patients lack both active myelin breakdown and well-organized onion bulbs on sural nerve biopsies, have absence of inflammation, and show hypomyelination of most or all fibers. CHN3 is a severe autosomal recessive form characterized by onset of neurogenic muscle impairment in utero. Affected individuals have profoundly impaired psychomotor development and may die in infancy or early childhood. {ECO:0000269 PubMed:27668699, ECO:0000269 PubMed:27818385, ECO:0000269 PubMed:28374019, ECO:0000269 PubMed:29511323}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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 54
  2. Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy. (PMID: 29511323) Low KJ … Smithson SF (European journal of human genetics : EJHG 2018) 3 4 54
  3. 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 54
  4. 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 2017) 3 4 54
  5. CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis. (PMID: 28374019) Hengel H … Schöls L (Neurology. Genetics 2017) 3 4 54

ExternalLinks

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