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contactin 1

Summary

Gene Symbol

CNTN1

Aliases

F3
GP135
glycoprotein gP135

Organism

Homo sapiens (human)

External Links

NCBI Gene

1272

HGNC

2171

KEGG Gene ID

hsa:1272

PubChem

1272

Alliance of Genome Resources

HGNC:2171

Annotation

Keyword

3D-structure
Alternative splicing
Cell adhesion
Cell membrane
Direct protein sequencing
Disulfide bond
GPI-anchor
Immunoglobulin domain
Notch signaling pathway
Reference proteome
Repeat
Signal

Proteins

Displaying 1 entry
UniProt	Protein Name
Q12860	Glycoprotein gp135 Neural cell surface protein F3

Annotation information from UniProt.

Gene Ontology (GO)

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GO Term	Evidence Code	PMID
brain development	IBA
cell-cell adhesion	IBA
cerebellum development	IEA
central nervous system myelin formation	IEA
axon guidance	IBA

GO Hierarchy

biological process

metabolic process [inference]

biosynthetic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

gene expression

organic substance biosynthetic process [inference]

macromolecule biosynthetic process [inference]

gene expression

cellular metabolic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

gene expression

organic substance metabolic process [inference]

macromolecule metabolic process [inference]

macromolecule biosynthetic process [inference]

gene expression

organic substance biosynthetic process [inference]

macromolecule biosynthetic process [inference]

gene expression

cellular process [inference]

cell-cell adhesion

signal transduction [inference]

cell surface receptor signaling pathway [inference]

Notch signaling pathway

cellular metabolic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

gene expression

cellular component organization or biogenesis [inference]

cellular component organization [inference]

cellular component assembly [inference]

cellular component assembly involved in morphogenesis [inference]

myelin assembly [inference]

central nervous system myelin formation

cell projection organization [inference]

plasma membrane bounded cell projection organization [inference]

neuron projection development [inference]

neuron projection guidance [inference]

axon guidance

multicellular organismal process [inference]

behavior [inference]

locomotory behavior

developmental process [inference]

anatomical structure formation involved in morphogenesis [inference]

cellular component assembly involved in morphogenesis [inference]

myelin assembly [inference]

central nervous system myelin formation

anatomical structure development [inference]

cerebellum development

animal organ development [inference]

brain development

biological regulation [inference]

regulation of biological process [inference]

regulation of metabolic process [inference]

regulation of biosynthetic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

positive regulation of gene expression

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of metabolic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of cellular metabolic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

regulation of cellular metabolic process [inference]

positive regulation of cellular metabolic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

positive regulation of gene expression

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

regulation of macromolecule metabolic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

positive regulation of gene expression

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

regulation of localization [inference]

regulation of transport [inference]

regulation of monoatomic ion transport [inference]

regulation of metal ion transport [inference]

regulation of sodium ion transport [inference]

positive regulation of sodium ion transport

positive regulation of monoatomic ion transport [inference]

positive regulation of sodium ion transport

positive regulation of transport [inference]

positive regulation of monoatomic ion transport [inference]

positive regulation of sodium ion transport

positive regulation of biological process [inference]

positive regulation of metabolic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of cellular metabolic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of cellular process [inference]

positive regulation of cellular metabolic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of cellular component organization [inference]

positive regulation of cell projection organization [inference]

positive regulation of neuron projection development

positive regulation of transport [inference]

positive regulation of monoatomic ion transport [inference]

positive regulation of sodium ion transport

regulation of cellular process [inference]

signal transduction [inference]

cell surface receptor signaling pathway [inference]

Notch signaling pathway

regulation of cellular metabolic process [inference]

positive regulation of cellular metabolic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

positive regulation of gene expression

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of cellular process [inference]

positive regulation of cellular metabolic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of cellular component organization [inference]

positive regulation of cell projection organization [inference]

positive regulation of neuron projection development

regulation of cellular component organization [inference]

regulation of cell projection organization [inference]

positive regulation of cell projection organization [inference]

positive regulation of neuron projection development

regulation of plasma membrane bounded cell projection organization [inference]

regulation of neuron projection development [inference]

positive regulation of neuron projection development

positive regulation of cellular component organization [inference]

positive regulation of cell projection organization [inference]

positive regulation of neuron projection development

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GO Term	Evidence Code	PMID
axon	IBA
postsynaptic membrane	IEA
plasma membrane	IBA
side of membrane	IEA
membrane		7959734

GO Hierarchy

cellular component

cellular anatomical entity [inference]

plasma membrane

plasma membrane region [inference]

synaptic membrane [inference]

cell projection [inference]

plasma membrane bounded cell projection [inference]

neuron projection [inference]

axon

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

extracellular vesicle [inference]

extracellular exosome

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

side of membrane

Displaying **all 3** entries
GO Term	Evidence Code	PMID
cell-cell adhesion mediator activity	IBA
carbohydrate binding	IEA
protein binding	IPI	21969550 26721881

GO Hierarchy

molecular function

binding [inference]

protein binding

cell adhesion molecule binding [inference]

cell adhesion mediator activity [inference]

cell-cell adhesion mediator activity

carbohydrate binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000018236

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K06759

Name

contactin 1

References

8164510

Disease

Disease Ontology

Displaying entries **1 - 10** of 98 in total

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DO ID	Disease Name	Source
DOID:0050424	familial adenomatous polyposis	DisGeNET
DOID:0050588	muscular dystrophy-dystroglycanopathy type B1	DisGeNET
DOID:0050865	tongue squamous cell carcinoma	DisGeNET DisGeNET
DOID:0060891	Parkinson's disease 19A	DisGeNET
DOID:0060895	Parkinson's disease 4	DisGeNET
DOID:0060896	Parkinson's disease 23	DisGeNET
DOID:0080101	Compton-North congenital myopathy	DisGeNET Alliance of Genome Resources
DOID:0080199	colorectal carcinoma	DisGeNET
DOID:0080348	Alzheimer's disease 1	DisGeNET
DOID:0080409	familial adenomatous polyposis 1	DisGeNET

The Human Phenotype Ontology

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HPO ID	HPO Term
HP:0001324	Muscle weakness
HP:0001518	Small for gestational age
HP:0001522	Death in infancy
HP:0001558	Decreased fetal movement
HP:0001561	Polyhydramnios
HP:0001622	Premature birth
HP:0001989	Fetal akinesia sequence
HP:0002033	Poor suck
HP:0002304	Akinesia
HP:0002705	High, narrow palate

Displaying 1 entry
Disease ID	Disease Name
OMIM:612540	Compton-North congenital myopathy

PubChem Disease

MedGen Diseases

Compton-North congenital myopathy

OMIM Phenotypes

CONGENITAL MYOPATHY 12; CMYP12

KEGG Diseases

Congenital myopathy

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	173828	WB:WBGene00016354
Drosophila melanogaster	40553	FB:FBgn0037240
Callorhinchus milii	103179379		CALMI17766
Latimeria chalumnae	102367335		LATCH09774
Danio rerio	353150	ZFIN:ZDB-GENE-030427-1
Danio rerio	541474	ZFIN:ZDB-GENE-041210-236
Astyanax mexicanus	103023464		ASTMX00634
Ictalurus punctatus	108275444		ICTPU06177
Electrophorus electricus	113571832		ELEEL09523
Esox lucius	105018287		ESOLU57645

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Last updated: August 19, 2024