CNTNAP1 contactin associated protein 1 [Homo sapiens] - Gene

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Summary

Official Symbol: CNTNAP1provided by HGNC
Official Full Name: contactin associated protein 1provided by HGNC
Primary source: HGNC:8011
See related: Ensembl:ENSG00000108797; HPRD:03825; MIM:602346
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: 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]

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Genomic context

Location :: 17q21

Sequence :: Chromosome: 17; NC_000017.10 (40834632..40852011)

See CNTNAP1 in Epigenomics, MapViewer

Chromosome 17 - NC_000017.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Polymorphisms in innate immunity genes and risk of childhood leukemia.
Observational study of gene-disease association. (HuGE Navigator)
Title: Risk of meningioma and common variation in genes related to innate immunity.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
P78357	P06241	FYN	HPRD	PubMed
P78357	O94856	NFASC	HPRD	PubMed
P78357	P23467	PTPRB	HPRD	PubMed
P78357	P61586	RHOA	HPRD	PubMed
P78357	Q9NQC3	RTN4	HPRD	PubMed
P78357	P12931	SRC	HPRD	PubMed
BioGRID:114078	BioGRID:107433	CDC42	BioGRID	PubMed	Reconstituted Complex
BioGRID:114078	BioGRID:109939	KCNA1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:114078	BioGRID:109940	KCNA2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:114078	BioGRID:111817	RAC1	BioGRID	PubMed	Reconstituted Complex
BioGRID:114078	BioGRID:106880	RHOA	BioGRID	PubMed	Reconstituted Complex
BioGRID:114078	BioGRID:121400	RTN4	BioGRID	PubMed	Affinity Capture-Western

Function	Evidence Code	Pubs
SH3 domain binding	IEA Inferred from Electronic Annotation more info
SH3/SH2 adaptor activity	TAS Traceable Author Statement more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
receptor activity	TAS Traceable Author Statement more info	PubMed
receptor binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
axon cargo transport	ISS Inferred from Sequence or Structural Similarity more info
axon guidance	TAS Traceable Author Statement more info
cell adhesion	IEA Inferred from Electronic Annotation more info
cytoskeleton organization	ISS Inferred from Sequence or Structural Similarity more info
neuromuscular process controlling balance	IEA Inferred from Electronic Annotation more info
neuromuscular process controlling posture	IEA Inferred from Electronic Annotation more info
neuron projection morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
paranodal junction assembly	ISS Inferred from Sequence or Structural Similarity more info
protein localization to paranode region of axon	ISS Inferred from Sequence or Structural Similarity more info
signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
integral to plasma membrane	TAS Traceable Author Statement more info	PubMed
membrane	IEA Inferred from Electronic Annotation more info
paranode region of axon	ISS Inferred from Sequence or Structural Similarity more info
colocalizes_with voltage-gated potassium channel complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

Preferred Names: contactin-associated protein 1

Names: contactin-associated protein 1; caspr1; neurexin 4; neurexin-4; neurexin IV

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NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

NM_003632.2 → NP_003623.1 contactin-associated protein 1 precursor

Status: REVIEWED

Source sequence(s)

BC171797, BU729460, U87223

Consensus CDS

CCDS11436.1

UniProtKB/Swiss-Prot

P78357

Related

ENSP00000264638, ENST00000264638

Conserved Domains (5) summary

cd00054
Location:542 – 576
Blast Score: 82

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

cd00057
Location:36 – 167
Blast Score: 358

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
Blast Score: 268

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:581 – 626
Blast Score: 101

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 ...

smart00231
Location:24 – 168
Blast Score: 290

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000017.10 Reference GRCh37.p5 Primary Assembly

Range

40834632..40852011

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000149.1 Alternate HuRef

Range

36599698..36617086

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC100793.8 (20385..37585)	None
genomic	CH471152.1	EAW60867.1
		EAW60868.1
		EAW60869.1
mRNA	BC171797.1	None
mRNA	BU729460.1	None
mRNA	U87223.1	AAB48481.1
other-genetic	BC160132.1	AAI60132.1