Q92823A4D0S3E9PDA4O15051O15179Q14BM2Q9UHI3Q9UHI4NRCAM_HUMANNeuronal cell adhesion moleculeNr-CAMNeuronal surface protein BravohBravoNgCAM-related cell adhesion moleculeNg-CAM-relatedNRCAMKIAA0343Homo sapiensHumanEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomoCharacterization of a highly conserved human homolog to the chicken neural cell surface protein Bravo/Nr-CAM that maps to chromosome band 7q31.NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1)TISSUE SPECIFICITYThe complete sequence of the human locus for NgCAM-related cell adhesion molecule reveals a novel alternative exon in chick and man and conserved genomic organization for the L1 subfamily.NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 2 AND 5)Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3)VARIANT ALA-545The full-ORF clone resource of the German cDNA consortium.NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4)The DNA sequence of human chromosome 7.NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]Human chromosome 7: DNA sequence and biology.NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]VARIANT ALA-545NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]VARIANT ALA-545The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6)VARIANT ALA-545Temporal and spatial regulation of alternative splicing for human NrCAM in neural and non neural tissues.NUCLEOTIDE SEQUENCE [MRNA] OF 6-1304 (ISOFORM 1)Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-276Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-276A strategy for precise and large scale identification of core fucosylated glycoproteins.GLYCOSYLATION AT ASN-858Myocilin mediates myelination in the peripheral nervous system through ErbB2/3 signaling.INTERACTION WITH MYOCBi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity.INVOLVEMENT IN NEDNMSVARIANTS NEDNMS GLY-55; 111-GLU--VAL-1304 DEL; PRO-134; ASP-197; SER-469; CYS-853; THR-902; ASP-913 AND 929-ARG--VAL-1304 DELSolution structure of the first fibronectin type III domain of human KIAA0343 protein.STRUCTURE BY NMR OF 638-751Solution structure of the third fibronectin III domain of human KIAA0343 protein.STRUCTURE BY NMR OF 838-950The consensus coding sequences of human breast and colorectal cancers.VARIANTS [LARGE SCALE ANALYSIS] PRO-1093 AND VAL-1116Cell adhesion protein that is required for normal responses to cell-cell contacts in brain and in the peripheral nervous system. Plays a role in neurite outgrowth in response to contactin binding. Plays a role in mediating cell-cell contacts between Schwann cells and axons. Plays a role in the formation and maintenance of the nodes of Ranvier on myelinated axons. Nodes of Ranvier contain clustered sodium channels that are crucial for the saltatory propagation of action potentials along myelinated axons. During development, nodes of Ranvier are formed by the fusion of two heminodes. Required for normal clustering of sodium channels at heminodes; not required for the formation of mature nodes with normal sodium channel clusters. Required, together with GLDN, for maintaining NFASC and sodium channel clusters at mature nodes of Ranvier.Constituent of a NFASC/NRCAM/ankyrin-G complex. Detected in a complex with CNTN1 and PTPRB. Interacts with GLDN/gliomedin (By similarity). Interacts with MYOC (PubMed:23897819).Cell membraneSingle-pass type I membrane proteinCell projectionAxonSecretedDetected at nodes of Ranvier.Q92823-11Q92823-22Q92823-33Q92823-44Q92823-55Q92823-66Detected in all the examined tissues. In the brain it was detected in the amygdala, caudate nucleus, corpus callosum, hippocampus, hypothalamus, substantia nigra, subthalamic nucleus and thalamus.Neurodevelopmental disorder with neuromuscular and skeletal abnormalities
NEDNMS
An autosomal recessive disorder characterized by developmental delay apparent from infancy or early childhood, intellectual disability, hypotonia, peripheral neuropathy, and/or spasticity. Disease severity is highly variable. Most affected individuals have skeletal defects and dysmorphic facial features. Some may have ocular or auditory problems, behavioral abnormalities, and non-specific findings on brain imaging.The disease is caused by variants affecting the gene represented in this entry.Belongs to the immunoglobulin superfamily. L1/neurofascin/NgCAM family.Truncated N-terminus.Extended N-terminus.3D-structureAlternative splicingCell adhesionCell membraneCell projectionDisease variantDisulfide bondGlycoproteinImmunoglobulin domainIntellectual disabilityMembranePhosphoproteinReference proteomeRepeatSecretedSignalTransmembraneTransmembrane helixYYRSLESDAEDHKPLKKRLFSFVSSASFDGSPGDNSPARCKTGDHPGVEQIIKDATWIVKEIFLKFIITIHDKNVESFDVFLAVSNATSTPTHVYAVFDSGGPRDGVLMQLKIMPKKKRLSAGRVPLILFLCQMISALEVPLDPKLLEDLVQPPTITQQSPKDYIIDPRENIVIQCEAKGKPPPSFSWTRNGTHFDIDKDPLVTMKPGTGTLIINIMSEGKAETYEGVYQCTARNERGAAVSNNIVVRPSRSPLWTKEKLEPITLQSGQSLVLPCRPPIGLPPPIIFWMDNSFQRLPQSERVSQGLNGDLYFSNVLPEDTREDYICYARFNHTQTIQQKQPISVKVISVDELNDTIAANLSDTEFYGAKSSRERPPTFLTPEGNASNKEELRGNVLSLECIAEGLPTPIIYWAKEDGMLPKNRTVYKNFEKTLQIIHVSEADSGNYQCIAKNALGAIHHTISVRVKAAPYWITAPQNLVLSPGEDGTLICRANGNPKPRISWLTNGVPIEIAPDDPSRKIDGDTIIFSNVQERSSAVYQCNASNEYGYLLANAFVNVLAEPPRILTPANTLYQVIANRPALLDCAFFGSPLPTIEWFKGAKGSALHEDIYVLHENGTLEIPVAQKDSTGTYTCVARNKLGMAKNEVHLEIKDPTWIVKQPEYAVVQRGSMVSFECKVKHDHTLSLTVLWLKDNRELPSDERFTVDKDHLVVADVSDDDSGTYTCVANTTLDSVSASAVLSVVAPTPTPAPVYDVPNPPFDLELTDQLDKSVQLSWTPGDDNNSPITKFIIEYEDAMHKPGLWHHQTEVSGTQTTAQLKLSPYVNYSFRVMAVNSIGKSLPSEASEQYLTKASEPDKNPTAVEGLGSEPDNLVITWKPLNGFESNGPGLQYKVSWRQKDGDDEWTSVVVANVSKYIVSGTPTFVPYLIKVQALNDMGFAPEPAVVMGHSGEDLPMVAPGNVRVNVVNSTLAEVHWDPVPLKSIRGHLQGYRIYYWKTQSSSKRNRRHIEKKILTFQGSKTHGMLPGLEPFSHYTLNVRVVNGKGEGPASPDRVFNTPEGVPSAPSSLKIVNPTLDSLTLEWDPPSHPNGILTEYTLKYQPINSTHELGPLVDLKIPANKTRWTLKNLNFSTRYKFYFYAQTSAGSGSQITEEAVTTVDEAGILPPDVGAGKVQAVNPRISNLTAAAAETYANISWEYEGPEHVNFYVEYGVAGSKEEWRKEIVNGSRSFFGLKGLMPGTAYKVRVGAVGDSGFVSSEDVFETGPAMASRQVDIATQGWFIGLMCAVALLILILLIVCFIRRNKGGKYPVKEKEDAHADPEIQPMKEDDGTFGEYSDAEDHKPLKKGSRTPSDRTVKKEDSDDSLVDYGEGVNGQFNEDGSFIGQYSGKKEKEPAEGNESSEAPSPVNAMNSFV
Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms Distributed under the Creative Commons Attribution (CC BY 4.0) License