CNTNAP1 contactin associated protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CNTNAP1provided by HGNC
Official Full Name: contactin associated protein 1provided by HGNC
Primary source: HGNC:HGNC:8011
See related: Ensembl:ENSG00000108797 MIM:602346; AllianceGenome:HGNC:8011
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CHN3; P190; CASPR; NRXN4; CNTNAP
Summary: 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]
Expression: Broad expression in brain (RPKM 18.9), endometrium (RPKM 5.5) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q21.2

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (42682531..42699993)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (43539668..43557130)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (40834549..40852011)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mouse models of human CNTNAP1-associated congenital hypomyelinating neuropathy and genetic restoration of murine neurological deficits.
Title: Mouse models of human CNTNAP1-associated congenital hypomyelinating neuropathy and genetic restoration of murine neurological deficits.
M2-polarization-related CNTNAP1 gene might be a novel immunotherapeutic target and biomarker for clear cell renal cell carcinoma.
Title: M2-polarization-related CNTNAP1 gene might be a novel immunotherapeutic target and biomarker for clear cell renal cell carcinoma.
CNTNAP1-encephalopathy: Six novel patients surviving the neonatal period.
Title: CNTNAP1-encephalopathy: Six novel patients surviving the neonatal period.
Mutations of CNTNAP1 led to defects in neuronal development.
Title: Mutations of CNTNAP1 led to defects in neuronal development.
These results demonstrate that CASPR1 binds with ATP1B3 and thereby contributes to the regulation of Na(+)/K(+)-ATPase maturation and trafficking to the plasma membrane in brain microvascular endothelial cells.
Title: A CASPR1-ATP1B3 protein interaction modulates plasma membrane localization of Na(+)/K(+)-ATPase in brain microvascular endothelial cells.
We identified 9 novel CNTNAP1 variants in 6 families: three missense variants, four nonsense variants, one frameshift variant and one splice site variant. Significant polyhydramnios occurred in 6/7 pregnancies
Title: Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy.
E. coli exploits Caspr1 as a host receptor for penetration of the blood-brain barrier, resulting in meningitis
Title: Caspr1 is a host receptor for meningitis-causing Escherichia coli.
In two brothers with severe congenital hypotonia and foot deformities, we identified compound heterozygous variants in CNTNAP1, reporting the first causative missense variant, p.(Cys323Arg). Motor nerve conductions were markedly decreased.
Title: Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy.
CNTNAP1 mutations were found to induce characteristic ultrastructural lesions of the paranodal region.
Title: Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region.
report a consanguineous Arab family from Qatar with three children having an early lethal form of arthrogryposis multiplex congenita and a novel frameshift mutation in CNTNAP1
Title: Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Charcot-Marie-Tooth disease MedGen: C0007959 GeneReviews: Charcot-Marie-Tooth Hereditary Neuropathy Overview	Compare labs
Lethal congenital contracture syndrome 7 MedGen: C4225386 OMIM: 616286 GeneReviews: Not available	Compare labs
Neuropathy, congenital hypomyelinating, 3 MedGen: C4748608 OMIM: 618186 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vpu	vpu	HIV-1 Vpu is identified to have a physical interaction with contactin associated protein 1 (CNTNAP1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D17S2094 (e-PCR)
- UniSTS:59437

STS-Z40888 (e-PCR)
- UniSTS:3906

STS-U17905 (e-PCR)
- UniSTS:59473

WI-16114 (e-PCR)
- UniSTS:37529

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables SH3 domain binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in axonogenesis	IEA Inferred from Electronic Annotation more info
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in central nervous system myelination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cytoskeleton organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitochondrion organization	IEA Inferred from Electronic Annotation more info
involved_in myelination in peripheral nervous system	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuromuscular junction development, skeletal muscle fiber	IEA Inferred from Electronic Annotation more info
involved_in neuromuscular process controlling balance	IEA Inferred from Electronic Annotation more info
involved_in neuromuscular process controlling posture	IEA Inferred from Electronic Annotation more info
involved_in neuron projection morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron projection morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuronal action potential propagation	ISS Inferred from Sequence or Structural Similarity more info
involved_in paranodal junction assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in paranodal junction assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in paranodal junction maintenance	IEA Inferred from Electronic Annotation more info
involved_in postsynaptic density organization	IEA Inferred from Electronic Annotation more info
involved_in protein localization to juxtaparanode region of axon	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein localization to paranode region of axon	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of synapse maturation	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in paranodal junction	IEA Inferred from Electronic Annotation more info
located_in paranode region of axon	ISS Inferred from Sequence or Structural Similarity more info
located_in presynaptic active zone	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: contactin-associated protein 1

Names: caspr1; neurexin IV; neurexin-4

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.

Genomic

NG_042091.1 RefSeqGene

Range

4918..22380

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_003632.3 → NP_003623.1 contactin-associated protein 1 precursor

See identical proteins and their annotated locations for NP_003623.1

Status: REVIEWED

Source sequence(s)

AC100793, BC171797, BU729460, U87223

Consensus CDS

CCDS11436.1

UniProtKB/Swiss-Prot

P78357

Related

ENSP00000264638.3, ENST00000264638.9

Conserved Domains (6) summary

smart00294
Location:1304 → 1322

4.1m; putative band 4.1 homologues' binding motif

smart00282
Location:1083 → 1218

LamG; Laminin G domain

cd00057
Location:36 → 167

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:175 → 330

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:584 → 658

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:544 → 575

EGF; EGF-like domain