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

Gene ID: 8506, updated on 7-Dec-2018

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
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

Genomic context

See CNTNAP1 in Genome Data Viewer
Location:
17q21.2
Exon count:
25
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (42679767..42699993)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (40834632..40852011)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene tubulin gamma 2 Neighboring gene pleckstrin homology, MyTH4 and FERM domain containing H3 Neighboring gene C-C motif chemokine receptor 10 Neighboring gene enhancer of zeste 1 polycomb repressive complex 2 subunit Neighboring gene microRNA 6780a Neighboring gene ribosomal protein L34 pseudogene 30

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Charcot-Marie-Tooth disease Compare labs
Lethal congenital contracture syndrome 7
MedGen: C4225386 OMIM: 616286 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

HIV-1 interactions

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

Pathways from BioSystems

  • Axon guidance, organism-specific biosystem (from REACTOME)
    Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
  • Cell adhesion molecules (CAMs), organism-specific biosystem (from KEGG)
    Cell adhesion molecules (CAMs), organism-specific biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
  • Cell adhesion molecules (CAMs), conserved biosystem (from KEGG)
    Cell adhesion molecules (CAMs), conserved biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • L1CAM interactions, organism-specific biosystem (from REACTOME)
    L1CAM interactions, organism-specific biosystemThe L1 family of cell adhesion molecules (L1CAMs) are a subfamily of the immunoglobulin superfamily of transmembrane receptors, comprised of four structurally related proteins: L1, Close Homolog of L...
  • Neurofascin interactions, organism-specific biosystem (from REACTOME)
    Neurofascin interactions, organism-specific biosystemNeurofascin is an L1 family immunoglobulin cell adhesion molecule involved in axon subcellular targeting and synapse formation during neural development. There are a range of different isoforms ident...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SH3 domain binding ISS
Inferred from Sequence or Structural Similarity
more info
 
SH3/SH2 adaptor activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
signaling receptor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
central nervous system myelination IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytoskeleton organization ISS
Inferred from Sequence or Structural Similarity
more info
 
myelination in peripheral nervous system IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
neuron projection morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
neuronal action potential propagation ISS
Inferred from Sequence or Structural Similarity
more info
 
paranodal junction assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
paranodal junction assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of signal transduction IEA
Inferred from Electronic Annotation
more info
 
protein localization to juxtaparanode region of axon 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 TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
myelin sheath IEA
Inferred from Electronic Annotation
more info
 
paranodal junction IEA
Inferred from Electronic Annotation
more info
 
paranode region of axon ISS
Inferred from Sequence or Structural Similarity
more info
 
presynaptic active zone membrane IEA
Inferred from Electronic Annotation
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
caspr1
neurexin IV
neurexin-4

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.

Genomic

  1. NG_042091.1 RefSeqGene

    Range
    5001..22380
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003632.3NP_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, ENST00000264638.8
    Conserved Domains (6) summary
    smart00294
    Location:13041322
    4.1m; putative band 4.1 homologues' binding motif
    smart00282
    Location:10831218
    LamG; Laminin G domain
    cd00057
    Location:36167
    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:175330
    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:584658
    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:544575
    EGF; EGF-like domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    42679767..42699993
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024451011.1XP_024306779.1  contactin-associated protein 1 isoform X1

    Conserved Domains (6) summary
    smart00294
    Location:13041322
    4.1m; putative band 4.1 homologues' binding motif
    smart00282
    Location:10831218
    LamG; Laminin G domain
    cd00057
    Location:36167
    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:175330
    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:584658
    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:544575
    EGF; EGF-like domain
  2. XM_017025238.1XP_016880727.1  contactin-associated protein 1 isoform X1

    UniProtKB/Swiss-Prot
    P78357
    Conserved Domains (6) summary
    smart00294
    Location:13041322
    4.1m; putative band 4.1 homologues' binding motif
    smart00282
    Location:10831218
    LamG; Laminin G domain
    cd00057
    Location:36167
    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:175330
    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:584658
    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:544575
    EGF; EGF-like domain
  3. XM_005257748.4XP_005257805.1  contactin-associated protein 1 isoform X2

    See identical proteins and their annotated locations for XP_005257805.1

    Conserved Domains (7) summary
    smart00294
    Location:12281246
    4.1m; putative band 4.1 homologues' binding motif
    smart00231
    Location:192
    FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain
    smart00282
    Location:10071142
    LamG; Laminin G domain
    cd00057
    Location:191
    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:99254
    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 ...
    pfam00008
    Location:468499
    EGF; EGF-like domain
    cl00085
    Location:508582
    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 ...
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