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CNTN1 - contactin 1 Gene

Also Known as F3; GP135; MYPCN

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1272

About CNTN1

Cytogenetic location: 12q12 Genomic coordinates (GRCh38): 12:40,692,439-41,072,415 (from NCBI)

This gene has 11 transcripts (splice variants), 281 orthologues, 36 paralogues and is associated with 2 phenotypes. Biased expression in brain (RPKM 51.8), ovary (RPKM 13.6) and 10 other tissues.

Summary

The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

CNTN1 Products (4)

mRNA	Protein	Name
NM_001256063.2	NP_001242992.1	contactin-1 isoform 3 precursor
NM_001256064.2	NP_001242993.1	contactin-1 isoform 3 precursor
NM_001843.4	NP_001834.2	contactin-1 isoform 1 precursor
NM_175038.2	NP_778203.1	contactin-1 isoform 2 precursor

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	21969550	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CNTN1 Protein Structure

Ig_2

I-set

Ig_2

fn3

0
200
400
600
800
1018 a.a.

Protein Preferred Names	Protein Names
contactin-1	glycoprotein gP135

CNTN1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CNTN1	Q12860	CNTNAP2	Homo sapiens	Q9UHC6	BLI	26721881
Intra	CNTN1	Q12860	CNTNAP2	Homo sapiens	Q9UHC6	Confocal	26721881

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant CNTN1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P74225	Contactin-1/CNTN1 Protein, Human (HEK293, His)	Q12860 (E21-S993)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Myopathy, Congenital, Compton-North	Compton-North Congenital Myopathy MYPCN Congenital Lethal Myopathy, Compton-North Type
Autoimmune Neuropathy
Polyradiculopathy
Demyelinating Polyneuropathy	Peripheral Demyelinating Neuropathy Demyelinating Peripheral Neuropathy
Chronic Inflammatory Demyelinating Polyradiculoneuropathy	Chronic Inflammatory Demyelinating Polyneuropathy Cidp Polyradiculoneuropathy Chronic Inflammatory Demyelinating Polyradiculoneuropathy, Chronic Inflammatory Demyelinating
Generalized Epilepsy With Febrile Seizures Plus, Type 9	GEFSP9 Gefs+9 Generalized Epilepsy With Febrile Seizures Plus 9 Gefs+, Type 9 Generalised Epilepsy With Febrile Seizures Plus 9 Generalised Epilepsy With Febrile Seizures Plus Type 9 Generalized Epilepsy With Febrile Seizures Plus Type 9 Gefs+ Type 9 Epilepsy, Generalized, With Febrile Seizures Plus, Type 9
Multiple Pterygium Syndrome, Escobar Variant	Multiple Pterygium Syndrome Pterygium Escobar Syndrome EVMPS Pterygium Syndrome Autosomal Recessive Multiple Pterygium Syndrome Pterygium Colli Syndrome Pterygium Universale Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome Escobar Variant Multiple Pterygium Syndrome Multiple Pterygium Syndrome, Nonlethal Type Surfer'S Eye Multiple Pterygium Syndrome Escobar Type Multiple Pterygium Syndrome Nonlethal Type Familial Pterygium Syndrome Pterygium Colli Multiple Pterygium Syndrome, Non-Lethal Type Nonlethal Type Multiple Pterygium Syndrome Pterygium Syndrome, Multiple, Escobar Type Pterygium Of Eye Web Eye
Autoimmune Peripheral Neuropathy
Autoimmune Disease Of Peripheral Nervous System
Myopathy	Muscular Diseases Myopathies
Miller Fisher Syndrome	Cranial Variant Of Gbs Fisher'S Syndrome Miller-Fisher Variant Of Guillain-Barre Syndrome Miller-Fisher Syndrome Cranial Variant Of Guillain-Barré Syndrome Cranial Variant Of Guillain-Barre Syndrome Fisher Syndrome
Seckel Syndrome 5	SCKL5 Seckel Syndrome, Type 5
Neuroblastoma	Nb Neuroblastoma, Susceptibility To Neuroblastomas Central Neuroblastoma
Polyneuropathy	Polyneuropathies
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02926	CNTN1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17460	Cntn1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23917	Cntn1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	CNTN1	RGD	RGD:621300
Mus musculus	CNTN1	MGD	MGI:105980
Bos taurus	CNTN1	VGNC	VGNC:27536
Macaca mulatta	CNTN1	VGNC	VGNC:71283
Felis catus	CNTN1	VGNC	VGNC:61036
Canis familiaris	CNTN1	VGNC	VGNC:39432
Others	CNTN1	NCBI