Entity Details

Primary name CNTN1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ12860
EntryNameCNTN1_HUMAN
FullNameContactin-1
TaxID9606
Evidenceevidence at protein level
Length1018
SequenceStatuscomplete
DateCreated1997-11-01
DateModified2021-06-02

Ontological Relatives

GenesCNTN1

GO terms

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GOName
GO:0007155 cell adhesion
GO:0007219 Notch signaling pathway
GO:0010628 positive regulation of gene expression
GO:0010765 positive regulation of sodium ion transport
GO:0010976 positive regulation of neuron projection development
GO:0016020 membrane
GO:0021549 cerebellum development
GO:0030246 carbohydrate binding
GO:0031175 neuron projection development
GO:0045121 membrane raft
GO:0050731 positive regulation of peptidyl-tyrosine phosphorylation
GO:0070062 extracellular exosome
GO:0099025 anchored component of postsynaptic membrane
GO:0099026 anchored component of presynaptic membrane

Subcellular Location

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Subcellular Location
Cell membrane

Domains

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DomainNameCategoryType
IPR003598 Immunoglobulin subtype 2DomainDomain
IPR003599 Immunoglobulin subtypeDomainDomain
IPR003961 Fibronectin type IIIDomainDomain
IPR007110 Immunoglobulin-like domainDomainDomain
IPR013098 Immunoglobulin I-setDomainDomain
IPR013783 Immunoglobulin-like foldFamilyHomologous superfamily
IPR036116 Fibronectin type III superfamilyFamilyHomologous superfamily
IPR036179 Immunoglobulin-like domain superfamilyFamilyHomologous superfamily
IPR036992 Contactin-1FamilyFamily

Diseases

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Disease IDSourceNameDescription
612540 OMIMMyopathy, congenital, Compton-North (MYPCN)A lethal, autosomal recessive, congenital myopathy characterized by fetal akinesia, neonatal hypotonia, severe muscle weakness, loss of beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band. The disease is caused by variants affecting the gene represented in this entry.