ENSG00000108797


Homo sapiens

Features
Gene ID: ENSG00000108797
  
Biological name :CNTNAP1
  
Synonyms : CNTNAP1 / contactin associated protein 1 / P78357
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: 1
Band: q21.2
Gene start: 42682613
Gene end: 42699814
  
Corresponding Affymetrix probe sets: 219400_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000264638
Ensembl peptide - ENSP00000466571
NCBI entrez gene - 8506     See in Manteia.
OMIM - 602346
RefSeq - XM_017025238
RefSeq - NM_003632
RefSeq - XM_005257748
RefSeq Peptide - NP_003623
swissprot - P78357
swissprot - K7EMM9
Ensembl - ENSG00000108797
  
Related genetic diseases (OMIM): 616286 - Lethal congenital contracture syndrome 7, 616286
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 cntnap1ENSDARG00000074524Danio rerio
 CNTNAP1ENSGALG00000003123Gallus gallus
 O54991ENSMUSG00000017167Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9UHC6 / CNTNAP2 / contactin associated protein like 2ENSG0000017446942
Q8WYK1 / CNTNAP5 / contactin associated protein like 5ENSG0000015505236
Q9C0A0 / CNTNAP4 / contactin associated protein like 4ENSG0000015291035
Q9BZ76 / CNTNAP3 / contactin associated protein like 3ENSG0000010671434
Q96NU0 / CNTNAP3B / contactin associated protein like 3BENSG0000015452934
NRXN2 / P58401 / Q9P2S2 / neurexin 2ENSG0000011007621
NRXN3 / Q9HDB5 / Q9Y4C0 / neurexin 3ENSG0000002164520
NRXN1 / P58400 / Q9ULB1 / neurexin 1ENSG0000017991519
BX088645.1ENSG0000028337813
AC104151.1ENSG000002618331


Protein motifs (from Interpro)
Interpro ID Name
 IPR000421  Coagulation factor 5/8 C-terminal domain
 IPR000742  EGF-like domain
 IPR001791  Laminin G domain
 IPR002181  Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain
 IPR003585  Neurexin/syndecan/glycophorin C
 IPR008979  Galactose-binding-like domain superfamily
 IPR013320  Concanavalin A-like lectin/glucanase domain superfamily
 IPR028872  Contactin-associated protein 1
 IPR036056  Fibrinogen-like, C-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002175 protein localization to paranode region of axon IEA
 biological_processGO:0007010 cytoskeleton organization IEA
 biological_processGO:0007155 cell adhesion IEA
 biological_processGO:0007165 signal transduction TAS
 biological_processGO:0009967 positive regulation of signal transduction IEA
 biological_processGO:0019227 neuronal action potential propagation IEA
 biological_processGO:0022010 central nervous system myelination IMP
 biological_processGO:0022011 myelination in peripheral nervous system IMP
 biological_processGO:0030913 paranodal junction assembly IEA
 biological_processGO:0031175 neuron projection development IEA
 biological_processGO:0048812 neuron projection morphogenesis IEA
 biological_processGO:0050884 neuromuscular process controlling posture IEA
 biological_processGO:0050885 neuromuscular process controlling balance IEA
 biological_processGO:0071205 protein localization to juxtaparanode region of axon IEA
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0008076 voltage-gated potassium channel complex IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030424 axon IEA
 cellular_componentGO:0033010 paranodal junction IEA
 cellular_componentGO:0033270 paranode region of axon IEA
 cellular_componentGO:0043209 myelin sheath IEA
 molecular_functionGO:0005070 SH3/SH2 adaptor activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0017124 SH3 domain binding ISS


Pathways (from Reactome)
Pathway description
Neurofascin interactions


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000347 Mandibular hypoplasia "Underdevelopment of the mandible." [HPO:curators]
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 HP:0001252 Muscular hypotonia "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators]
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 HP:0001284 Areflexia 
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 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0001315 Reduced reflexes 
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 HP:0001349 Facial diplegia "Facial diplegia refers to simultaneous facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy)." [HPO:curators]
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 HP:0001376 Decreased mobility of joints 
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 HP:0001561 Polyhydramnios 
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 HP:0001989 Early severe fetal akinesia sequence 
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 HP:0002098 Respiratory distress 
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 HP:0002804 Arthrogryposis multiplex congenita 
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 HP:0003457 Abnormal EMG findings "Abnormal results of investigations using electromyography (EMG)." [HPO:curators]
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 HP:0006380 Knee flexion deformities 
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 HP:0200136 Oral-pharyngeal dysphagia 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000163531 NFASC / O94856 / neurofascin  / reaction / complex
 ENSG00000018236 CNTN1 / Q12860 / contactin 1  / complex






 

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