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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)

Displaying entries **1 - 5** of 18 in total

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GO Term	Evidence Code	PMID
neuronal action potential propagation	ISS
neuron projection morphogenesis	IMP ISS	24319099 27818385
protein localization to juxtaparanode region of axon	ISS
paranodal junction maintenance	IEA
postsynaptic density organization	IEA

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

Displaying entries **1 - 5** of 6 in total

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

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane

plasma membrane

cell junction [inference]

synapse [inference]

glutamatergic synapse

anchoring junction [inference]

cell-cell junction [inference]

paranodal 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

G: Carbohydrate transport and metabolism
M: Cell wall/membrane/envelope biogenesis
T: Signal transduction mechanisms

Displaying **all 2** entries
Gene Ontology
lysine biosynthetic process via aminoadipic acid
magnesium ion binding

Disease

Disease Ontology

Displaying **all 3** entries
DO ID	Disease Name	Source
DOID:0060041	autism spectrum disorder	Alliance of Genome Resources
DOID:0060308	autosomal recessive intellectual developmental disorder	Alliance of Genome Resources
DOID:0060558	lethal congenital contracture syndrome	Alliance of Genome Resources

Ortholog

Displaying entries **1 - 10** of 79 in total

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Species	Gene ID	OrthoDB	Alliance of Genome Resources	Orthologous MAtrix
Drosophila melanogaster	39387		FB:FBgn0013997
Mus musculus	53321		MGI:1858201	MOUSE04291
Rattus norvegicus	84008		RGD:70902	RATNO01173
Caenorhabditis elegans	178167		WB:WBGene00003772
Pan troglodytes	454696	9598_0:00470a		PANTR13847
Canis lupus familiaris	490960			CANLF18686
Bos taurus	540997			BOVIN13403
Danio rerio	566220		ZFIN:ZDB-GENE-030916-2	DANRE30671
Macaca mulatta	574229			MACMU16019
Monodelphis domestica	100011442			MONDO10362

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

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Summary

External Links

Annotation

OrthoDB (Group)

International Collaboration

Acknowledgements