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Entry version 174 (08 May 2019)
Sequence version 1 (01 May 1997)
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Protein

Contactin-associated protein 1

Gene

CNTNAP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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.3 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processCell adhesion

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-447043 Neurofascin interactions

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
P78357

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Contactin-associated protein 1
Short name:
Caspr
Short name:
Caspr1
Alternative name(s):
Neurexin IV
Neurexin-4
p190
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CNTNAP1
Synonyms:CASPR, NRXN4
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:8011 CNTNAP1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
602346 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P78357

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini20 – 1283ExtracellularSequence analysisAdd BLAST1264
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei1284 – 1304HelicalSequence analysisAdd BLAST21
Topological domaini1305 – 1384CytoplasmicSequence analysisAdd BLAST80

Keywords - Cellular componenti

Cell junction, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Lethal congenital contracture syndrome 7 (LCCS7)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:616286
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_078818323C → R in LCCS7. 1 PublicationCorresponds to variant dbSNP:rs768554986EnsemblClinVar.1
Natural variantiVAR_078820623 – 1384Missing in LCCS7; also found in a patient with congenital hypomyelinating neuropathy. 2 PublicationsAdd BLAST762
Natural variantiVAR_078822672 – 1384Missing in LCCS7. 1 PublicationAdd BLAST713
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.3 Publications

Organism-specific databases

DisGeNET

More...
DisGeNETi
8506

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
CNTNAP1

MalaCards human disease database

More...
MalaCardsi
CNTNAP1
MIMi616286 phenotype

Open Targets

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OpenTargetsi
ENSG00000108797

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
2680 Hypomyelination neuropathy-arthrogryposis syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA26691

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CNTNAP1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
17433016

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 19Sequence analysisAdd BLAST19
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001950320 – 1384Contactin-associated protein 1Add BLAST1365

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi25 ↔ 168By similarity
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi120N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi128N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi276N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi323 ↔ 355By similarity
Glycosylationi420N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi499N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi506 ↔ 538By similarity
Glycosylationi518N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi544 ↔ 555By similarity
Disulfide bondi549 ↔ 564By similarity
Disulfide bondi566 ↔ 576By similarity
Glycosylationi597N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi653N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi664N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi763N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi804N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi843N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi860N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi930 ↔ 957By similarity
Glycosylationi948N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi956N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi961 ↔ 974By similarity
Disulfide bondi968 ↔ 983By similarity
Disulfide bondi985 ↔ 995By similarity
Glycosylationi1078N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1147N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1209 ↔ 1250By similarity
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1383PhosphoserineBy similarity1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P78357

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P78357

MaxQB - The MaxQuant DataBase

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MaxQBi
P78357

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P78357

PeptideAtlas

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PeptideAtlasi
P78357

PRoteomics IDEntifications database

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PRIDEi
P78357

ProteomicsDB human proteome resource

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ProteomicsDBi
57588

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P78357

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P78357

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Predominantly expressed in brain. Weak expression detected in ovary, pancreas, colon, lung, heart, intestine and testis.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000108797 Expressed in 167 organ(s), highest expression level in frontal cortex

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P78357 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P78357 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA011772

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with CNTN1/contactin in cis form.1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
NCK1P163332EBI-1751903,EBI-389883

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
114078, 16 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P78357

Protein interaction database and analysis system

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IntActi
P78357, 12 interactors

Molecular INTeraction database

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MINTi
P78357

STRING: functional protein association networks

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STRINGi
9606.ENSP00000264638

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P78357

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini25 – 168F5/8 type CPROSITE-ProRule annotationAdd BLAST144
Domaini203 – 355Laminin G-like 1PROSITE-ProRule annotationAdd BLAST153
Domaini389 – 538Laminin G-like 2PROSITE-ProRule annotationAdd BLAST150
Domaini540 – 577EGF-like 1PROSITE-ProRule annotationAdd BLAST38
Domaini576 – 795Fibrinogen C-terminalPROSITE-ProRule annotationAdd BLAST220
Domaini813 – 956Laminin G-like 3PROSITE-ProRule annotationAdd BLAST144
Domaini957 – 996EGF-like 2PROSITE-ProRule annotationAdd BLAST40
Domaini1088 – 1250Laminin G-like 4PROSITE-ProRule annotationAdd BLAST163

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi1328 – 1369SH3-bindingSequence analysisAdd BLAST42

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the neurexin family.Curated

Keywords - Domaini

EGF-like domain, Repeat, SH3-binding, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3516 Eukaryota
ENOG410XPHG LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000160825

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000230964

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P78357

KEGG Orthology (KO)

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KOi
K07379

Identification of Orthologs from Complete Genome Data

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OMAi
TYIWLEY

Database of Orthologous Groups

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OrthoDBi
338397at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P78357

TreeFam database of animal gene trees

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TreeFami
TF321823

Family and domain databases

Conserved Domains Database

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CDDi
cd00057 FA58C, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.60.120.260, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR028872 Caspr1
IPR013320 ConA-like_dom_sf
IPR000742 EGF-like_dom
IPR000421 FA58C
IPR036056 Fibrinogen-like_C
IPR002181 Fibrinogen_a/b/g_C_dom
IPR008979 Galactose-bd-like_sf
IPR001791 Laminin_G
IPR003585 Neurexin-like

The PANTHER Classification System

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PANTHERi
PTHR15036:SF43 PTHR15036:SF43, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00754 F5_F8_type_C, 1 hit
PF02210 Laminin_G_2, 4 hits

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00294 4.1m, 1 hit
SM00231 FA58C, 1 hit
SM00282 LamG, 4 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF49785 SSF49785, 1 hit
SSF49899 SSF49899, 4 hits
SSF56496 SSF56496, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS50026 EGF_3, 2 hits
PS01285 FA58C_1, 1 hit
PS01286 FA58C_2, 1 hit
PS50022 FA58C_3, 1 hit
PS51406 FIBRINOGEN_C_2, 1 hit
PS50025 LAM_G_DOMAIN, 4 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

P78357-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MMHLRLFCIL LAAVSGAEGW GYYGCDEELV GPLYARSLGA SSYYSLLTAP
60 70 80 90 100
RFARLHGISG WSPRIGDPNP WLQIDLMKKH RIRAVATQGS FNSWDWVTRY
110 120 130 140 150
MLLYGDRVDS WTPFYQRGHN STFFGNVNES AVVRHDLHFH FTARYIRIVP
160 170 180 190 200
LAWNPRGKIG LRLGLYGCPY KADILYFDGD DAISYRFPRG VSRSLWDVFA
210 220 230 240 250
FSFKTEEKDG LLLHAEGAQG DYVTLELEGA HLLLHMSLGS SPIQPRPGHT
260 270 280 290 300
TVSAGGVLND QHWHYVRVDR FGRDVNFTLD GYVQRFILNG DFERLNLDTE
310 320 330 340 350
MFIGGLVGAA RKNLAYRHNF RGCIENVIFN RVNIADLAVR RHSRITFEGK
360 370 380 390 400
VAFRCLDPVP HPINFGGPHN FVQVPGFPRR GRLAVSFRFR TWDLTGLLLF
410 420 430 440 450
SRLGDGLGHV ELTLSEGQVN VSIAQSGRKK LQFAAGYRLN DGFWHEVNFV
460 470 480 490 500
AQENHAVISI DDVEGAEVRV SYPLLIRTGT SYFFGGCPKP ASRWDCHSNQ
510 520 530 540 550
TAFHGCMELL KVDGQLVNLT LVEGRRLGFY AEVLFDTCGI TDRCSPNMCE
560 570 580 590 600
HDGRCYQSWD DFICYCELTG YKGETCHTPL YKESCEAYRL SGKTSGNFTI
610 620 630 640 650
DPDGSGPLKP FVVYCDIREN RAWTVVRHDR LWTTRVTGSS MERPFLGAIQ
660 670 680 690 700
YWNASWEEVS ALANASQHCE QWIEFSCYNS RLLNTAGGYP YSFWIGRNEE
710 720 730 740 750
QHFYWGGSQP GIQRCACGLD RSCVDPALYC NCDADQPQWR TDKGLLTFVD
760 770 780 790 800
HLPVTQVVIG DTNRSTSEAQ FFLRPLRCYG DRNSWNTISF HTGAALRFPP
810 820 830 840 850
IRANHSLDVS FYFRTSAPSG VFLENMGGPY CQWRRPYVRV ELNTSRDVVF
860 870 880 890 900
AFDVGNGDEN LTVHSDDFEF NDDEWHLVRA EINVKQARLR VDHRPWVLRP
910 920 930 940 950
MPLQTYIWME YDQPLYVGSA ELKRRPFVGC LRAMRLNGVT LNLEGRANAS
960 970 980 990 1000
EGTSPNCTGH CAHPRLPCFH GGRCVERYSY YTCDCDLTAF DGPYCNHDIG
1010 1020 1030 1040 1050
GFFEPGTWMR YNLQSALRSA AREFSHMLSR PVPGYEPGYI PGYDTPGYVP
1060 1070 1080 1090 1100
GYHGPGYRLP DYPRPGRPVP GYRGPVYNVT GEEVSFSFST SSAPAVLLYV
1110 1120 1130 1140 1150
SSFVRDYMAV LIKDDGTLQL RYQLGTSPYV YQLTTRPVTD GQPHSINITR
1160 1170 1180 1190 1200
VYRNLFIQVD YFPLTEQKFS LLVDSQLDSP KALYLGRVME TGVIDPEIQR
1210 1220 1230 1240 1250
YNTPGFSGCL SGVRFNNVAP LKTHFRTPRP MTAELAEALR VQGELSESNC
1260 1270 1280 1290 1300
GAMPRLVSEV PPELDPWYLP PDFPYYHDEG WVAILLGFLV AFLLLGLVGM
1310 1320 1330 1340 1350
LVLFYLQNHR YKGSYHTNEP KAAHEYHPGS KPPLPTSGPA QVPTPTAAPN
1360 1370 1380
QAPASAPAPA PTPAPAPGPR DQNLPQILEE SRSE
Length:1,384
Mass (Da):156,267
Last modified:May 1, 1997 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i7727A13DF626DDCA
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7EMM9K7EMM9_HUMAN
Contactin-associated protein 1
CNTNAP1
740Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078818323C → R in LCCS7. 1 PublicationCorresponds to variant dbSNP:rs768554986EnsemblClinVar.1
Natural variantiVAR_078819388R → P Probable disease-associated mutation found in a patient with congenital hypomyelinating neuropathy. 1 PublicationCorresponds to variant dbSNP:rs779027563EnsemblClinVar.1
Natural variantiVAR_050267522V → L. Corresponds to variant dbSNP:rs35437096Ensembl.1
Natural variantiVAR_078820623 – 1384Missing in LCCS7; also found in a patient with congenital hypomyelinating neuropathy. 2 PublicationsAdd BLAST762
Natural variantiVAR_078821671 – 1384Missing Probable disease-associated mutation found in a patient with congenital hypomyelinating neuropathy. 2 PublicationsAdd BLAST714
Natural variantiVAR_078822672 – 1384Missing in LCCS7. 1 PublicationAdd BLAST713
Natural variantiVAR_078823764R → C Probable disease-associated mutation found in a patient with congenital hypomyelinating neuropathy. 2 PublicationsCorresponds to variant dbSNP:rs761805324Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
U87223 mRNA Translation: AAB48481.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS11436.1

NCBI Reference Sequences

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RefSeqi
NP_003623.1, NM_003632.2
XP_016880727.1, XM_017025238.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000264638; ENSP00000264638; ENSG00000108797

Database of genes from NCBI RefSeq genomes

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GeneIDi
8506

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:8506

UCSC genome browser

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UCSCi
uc002iay.4 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U87223 mRNA Translation: AAB48481.1
CCDSiCCDS11436.1
RefSeqiNP_003623.1, NM_003632.2
XP_016880727.1, XM_017025238.1

3D structure databases

SMRiP78357
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114078, 16 interactors
CORUMiP78357
IntActiP78357, 12 interactors
MINTiP78357
STRINGi9606.ENSP00000264638

PTM databases

iPTMnetiP78357
PhosphoSitePlusiP78357

Polymorphism and mutation databases

BioMutaiCNTNAP1
DMDMi17433016

Proteomic databases

EPDiP78357
jPOSTiP78357
MaxQBiP78357
PaxDbiP78357
PeptideAtlasiP78357
PRIDEiP78357
ProteomicsDBi57588

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
8506
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264638; ENSP00000264638; ENSG00000108797
GeneIDi8506
KEGGihsa:8506
UCSCiuc002iay.4 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
8506
DisGeNETi8506

GeneCards: human genes, protein and diseases

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GeneCardsi
CNTNAP1
GeneReviewsiCNTNAP1
HGNCiHGNC:8011 CNTNAP1
HPAiHPA011772
MalaCardsiCNTNAP1
MIMi602346 gene
616286 phenotype
neXtProtiNX_P78357
OpenTargetsiENSG00000108797
Orphaneti2680 Hypomyelination neuropathy-arthrogryposis syndrome
PharmGKBiPA26691

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3516 Eukaryota
ENOG410XPHG LUCA
GeneTreeiENSGT00940000160825
HOGENOMiHOG000230964
InParanoidiP78357
KOiK07379
OMAiTYIWLEY
OrthoDBi338397at2759
PhylomeDBiP78357
TreeFamiTF321823

Enzyme and pathway databases

ReactomeiR-HSA-447043 Neurofascin interactions
SignaLinkiP78357

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
CNTNAP1 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
8506

Protein Ontology

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PROi
PR:P78357

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000108797 Expressed in 167 organ(s), highest expression level in frontal cortex
ExpressionAtlasiP78357 baseline and differential
GenevisibleiP78357 HS

Family and domain databases

CDDicd00057 FA58C, 1 hit
Gene3Di2.60.120.260, 1 hit
InterProiView protein in InterPro
IPR028872 Caspr1
IPR013320 ConA-like_dom_sf
IPR000742 EGF-like_dom
IPR000421 FA58C
IPR036056 Fibrinogen-like_C
IPR002181 Fibrinogen_a/b/g_C_dom
IPR008979 Galactose-bd-like_sf
IPR001791 Laminin_G
IPR003585 Neurexin-like
PANTHERiPTHR15036:SF43 PTHR15036:SF43, 1 hit
PfamiView protein in Pfam
PF00754 F5_F8_type_C, 1 hit
PF02210 Laminin_G_2, 4 hits
SMARTiView protein in SMART
SM00294 4.1m, 1 hit
SM00231 FA58C, 1 hit
SM00282 LamG, 4 hits
SUPFAMiSSF49785 SSF49785, 1 hit
SSF49899 SSF49899, 4 hits
SSF56496 SSF56496, 1 hit
PROSITEiView protein in PROSITE
PS50026 EGF_3, 2 hits
PS01285 FA58C_1, 1 hit
PS01286 FA58C_2, 1 hit
PS50022 FA58C_3, 1 hit
PS51406 FIBRINOGEN_C_2, 1 hit
PS50025 LAM_G_DOMAIN, 4 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCNTP1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P78357
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 5, 2001
Last sequence update: May 1, 1997
Last modified: May 8, 2019
This is version 174 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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