CNTN1 - contactin 1 Gene

Homo sapiens

Also known as F3; GP135; MYPCN

Gene ID: 1272 | Gene type: protein coding

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	Reference	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

Recombinant CNTN1 Proteins

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02926	CNTN1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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