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contactin associated protein 1

Summary

Gene Symbol

CNTNAP1

Organism

Homo sapiens (human)

External Links

NCBI Gene

8506

PubChem

8506

Alliance of Genome Resources

HGNC:8011

Annotation

Keyword

Cell adhesion
Cell junction
Disease variant
Disulfide bond
EGF-like domain
Glycoprotein
Neuropathy
Phosphoprotein
Reference proteome
Repeat
SH3-binding
Signal
Transmembrane helix

Proteins

Displaying 1 entry
UniProt	Protein Name
P78357	Neurexin IV Neurexin-4 p190

Annotation information from UniProt.

Gene Ontology (GO)

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GO Term	Evidence Code	PMID
protein localization to paranode region of axon	ISS
mitochondrion organization	IEA
cytoskeleton organization	ISS
cell adhesion	IEA
signal transduction	TAS	9118959

GO Hierarchy

biological process

cellular process [inference]

ensheathment of neurons [inference]

axon ensheathment [inference]

axon ensheathment in central nervous system [inference]

central nervous system myelination

peripheral nervous system axon ensheathment [inference]

myelination in peripheral nervous system

myelination [inference]

cellular localization [inference]

cellular macromolecule localization [inference]

protein localization [inference]

protein localization to axon [inference]

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

postsynaptic specialization organization [inference]

postsynaptic density organization

cellular component assembly [inference]

cellular component assembly involved in morphogenesis [inference]

paranodal junction assembly

cell junction assembly [inference]

cell-cell junction assembly [inference]

paranodal junction assembly

cell projection organization [inference]

cell projection morphogenesis [inference]

plasma membrane bounded cell projection morphogenesis [inference]

neuron projection morphogenesis

axonogenesis

cell junction organization [inference]

cell junction assembly [inference]

cell-cell junction assembly [inference]

paranodal junction assembly

cell junction maintenance [inference]

cell-cell junction maintenance [inference]

paranodal junction maintenance

cell-cell junction organization [inference]

cell-cell junction assembly [inference]

paranodal junction assembly

cell-cell junction maintenance [inference]

paranodal junction maintenance

synapse organization [inference]

neuromuscular junction development [inference]

neuromuscular junction development, skeletal muscle fiber

cellular component maintenance [inference]

cell junction maintenance [inference]

cell-cell junction maintenance [inference]

paranodal junction maintenance

multicellular organismal process [inference]

system process [inference]

nervous system process [inference]

neuronal action potential propagation

neuromuscular process [inference]

developmental process [inference]

anatomical structure morphogenesis [inference]

cellular anatomical entity morphogenesis [inference]

cell projection morphogenesis [inference]

plasma membrane bounded cell projection morphogenesis [inference]

neuron projection morphogenesis

axonogenesis

anatomical structure formation involved in morphogenesis [inference]

cellular component assembly involved in morphogenesis [inference]

paranodal junction assembly

localization [inference]

macromolecule localization [inference]

cellular macromolecule localization [inference]

protein localization [inference]

protein localization to axon [inference]

cellular localization [inference]

cellular macromolecule localization [inference]

protein localization [inference]

protein localization to axon [inference]

biological regulation [inference]

regulation of biological process [inference]

regulation of developmental process [inference]

regulation of synapse maturation

regulation of cellular process [inference]

signal transduction

regulation of cellular component organization [inference]

regulation of synapse organization [inference]

regulation of synapse maturation

regulation of biological quality [inference]

regulation of membrane potential [inference]

action potential [inference]

action potential propagation [inference]

neuronal action potential propagation

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GO Term	Evidence Code	PMID
septate junction
membrane	IEA
paranodal junction	IEA
paranode region of axon	ISS
presynaptic active zone	IEA

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane

cell junction [inference]

synapse [inference]

glutamatergic synapse

anchoring junction [inference]

cell-cell junction [inference]

paranodal junction

tight junction [inference]

septate junction

Displaying **all 3** entries
GO Term	Evidence Code	PMID
protein binding	IPI	17474147
SH3 domain binding	ISS
signaling receptor activity	TAS	9118959

GO Hierarchy

molecular function

binding [inference]

protein binding

protein domain specific binding [inference]

SH3 domain binding

molecular transducer activity [inference]

signaling receptor activity

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

Phosphopantetheinyl transferase

Functional Category

I: Lipid transport and metabolism
M: Cell wall/membrane/envelope biogenesis
T: Signal transduction mechanisms

Displaying 1 entry
Gene Ontology
magnesium ion binding

Disease

Disease Ontology

Displaying 1 entry
DO ID	Disease Name	Source
DOID:0060558	lethal congenital contracture syndrome	Alliance of Genome Resources

Ortholog

Displaying entries **1 - 10** of 91 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Xenopus tropicalis	8506	Xenbase:XB-GENE-963972
Drosophila melanogaster	26047	FB:FBgn0013997
Xenopus tropicalis	39387	Xenbase:XB-GENE-963972
Mus musculus	53321	Xenbase:XB-GENE-963972	MOUSE04291
Drosophila melanogaster	66797	FB:FBgn0013997
Drosophila melanogaster	79937	FB:FBgn0013997
Rattus norvegicus	84008	Xenbase:XB-GENE-963972	RATNO01173
Drosophila melanogaster	85445	FB:FBgn0013997
Drosophila melanogaster	129684	FB:FBgn0013997
Drosophila melanogaster	170571	FB:FBgn0013997

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

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Summary

External Links

Annotation

OrthoDB (Group)

International Collaboration

Acknowledgements