CNTN1
entrez
1272
canonical
uniprot
Q12860
canonical
ensembl
ENSG00000018236
resolver
ensp
ENSP00000261160
resolver
ensp
ENSP00000447006
resolver
ensp
ENSP00000448004
resolver
ensp
ENSP00000448653
resolver
ensp
ENSP00000571089
resolver
ensp
ENSP00000571090
resolver
ensp
ENSP00000629435
resolver
ensp
ENSP00000651098
resolver
ensp
ENSP00000651099
resolver
genesymbol
CNTN1
resolver
hgnc
HGNC:2171
resolver
uniprot
A8K0H9
resolver
uniprot
A8K0Y3
resolver
uniprot
Q12861
resolver
uniprot
Q14030
resolver
uniprot
Q7M4P0
resolver
uniprot
Q8N466
resolver
uniprot_entry
CNTN1_HUMAN
resolver
uniprot_sec
A8K0H9
resolver
uniprot_sec
A8K0Y3
resolver
uniprot_sec
Q12861
resolver
uniprot_sec
Q14030
resolver
uniprot_sec
Q7M4P0
resolver
uniprot_sec
Q8N466
resolver
amino_acid_sequence
MKMWLLVSHLVIISITTCLAEFTWYRRYGHGVSEEDKGFGPIFEEQPINTIYPEESLEGKVSLNCRARASPFPVYKWRMNNGDVDLTSDRYSMVGGNLVINNPDKQKDAGIYYCLASNNYGMVRSTEATLSFGYLDPFPPEERPEVRVKEGKGMVLLCDPPYHFPDDLSYRWLLNEFPVFITMDKRRFVSQTNGNLYIANVEASDKGNYSCFVSSPSITKSVFSKFIPLIPIPERTTKPYPADIVVQFKDVYALMGQNVTLECFALGNPVPDIRWRKVLEPMPSTAEISTSGAVLKIFNIQLEDEGIYECEAENIRGKDKHQARIYVQAFPEWVEHINDTEVDIGSDLYWPCVATGKPIPTIRWLKNGYAYHKGELRLYDVTFENAGMYQCIAENTYGAIYANAELKILALAPTFEMNPMKKKILAAKGGRVIIECKPKAAPKPKFSWSKGTEWLVNSSRILIWEDGSLEINNITRNDGGIYTCFAENNRGKANSTGTLVITDPTRIILAPINADITVGENATMQCAASFDPALDLTFVWSFNGYVIDFNKENIHYQRNFMLDSNGELLIRNAQLKHAGRYTCTAQTIVDNSSASADLVVRGPPGPPGGLRIEDIRATSVALTWSRGSDNHSPISKYTIQTKTILSDDWKDAKTDPPIIEGNMEAARAVDLIPWMEYEFRVVATNTLGRGEPSIPSNRIKTDGAAPNVAPSDVGGGGGRNRELTITWAPLSREYHYGNNFGYIVAFKPFDGEEWKKVTVTNPDTGRYVHKDETMSPSTAFQVKVKAFNNKGDGPYSLVAVINSAQDAPSEAPTEVGVKVLSSSEISVHWEHVLEKIVESYQIRYWAAHDKEEAANRVQVTSQEYSARLENLLPDTQYFIEVGACNSAGCGPPSDMIEAFTKKAPPSQPPRIISSVRSGSRYIITWDHVVALSNESTVTGYKVLYRPDGQHDGKLYSTHKHSIEVPIPRDGEYVVEVRAHSDGGDGVVSQVKISGAPTLSPSLLGLLLPAFGILVYLEF
uniprot
proteins
disease_involvement
DISEASE: Congenital myopathy 12 (CMYO12) [MIM:612540]: 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. {ECO:0000269|PubMed:19026398}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Contactins mediate cell surface interactions during nervous system development. Involved in the formation of paranodal axo-glial junctions in myelinated peripheral nerves and in the signaling between axons and myelinating glial cells via its association with CNTNAP1. Participates in oligodendrocytes generation by acting as a ligand of NOTCH1. Its association with NOTCH1 promotes NOTCH1 activation through the released notch intracellular domain (NICD) and subsequent translocation to the nucleus. Interaction with TNR induces a repulsion of neurons and an inhibition of neurite outgrowth (By similarity). {ECO:0000250}.
uniprot
proteins
mass_dalton
113320
uniprot
proteins
protein_family
Contactin family
uniprot
proteins
protein_family
Immunoglobulin superfamily
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16335952
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
19026398
uniprot
proteins
pubmed
19139490
uniprot
proteins
pubmed
20133774
uniprot
proteins
pubmed
2026173
uniprot
proteins
pubmed
7959734
uniprot
proteins
pubmed
8164510
uniprot
proteins
sequence_length
1018
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Cell membrane; Lipid-anchor, GPI-anchor; Extracellular side.; SUBCELLULAR LOCATION: [Isoform 2]: Cell membrane; Lipid-anchor, GPI-anchor; Extracellular side.
uniprot
proteins