{ "uniprot_canonical_ac": "P13591-2", "uniprot_ac": "P13591", "uniprot_id": "NCAM1_HUMAN", "mass": { "chemical_mass": 94574.0, "monoisotopic_mass": 94574.0 }, "refseq": { "ac": "NP_000606", "name": "neural cell adhesion molecule 1 isoform 1 precursor", "summary": "This gene encodes a cell adhesion protein which is a member of the immunoglobulin superfamily. The encoded protein is involved in cell-to-cell interactions as well as cell-matrix interactions during development and differentiation. The encoded protein plays a role in the development of the nervous system by regulating neurogenesis, neurite outgrowth, and cell migration. This protein is also involved in the expansion of T lymphocytes, B lymphocytes and natural killer (NK) cells which play an important role in immune surveillance. This protein plays a role in signal transduction by interacting with fibroblast growth factor receptors, N-cadherin and other components of the extracellular matrix and by triggering signalling cascades involving FYN-focal adhesion kinase (FAK), mitogen-activated protein kinase (MAPK), and phosphatidylinositol 3-kinase (PI3K). One prominent isoform of this gene, cell surface molecule CD56, plays a role in several myeloproliferative disorders such as acute myeloid leukemia and differential expression of this gene is associated with differential disease progression. For example, increased expression of CD56 is correlated with lower survival in acute myeloid leukemia patients whereas increased severity of COVID-19 is correlated with decreased abundance of CD56-expressing NK cells in peripheral blood. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. [provided by RefSeq, Aug 2020].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000606" }, "gene_names": [ { "name": "NCAM1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P13591", "id": "P13591" }, { "name": "CD56; MSK39; NCAM", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000606", "id": "NP_000606" }, { "name": "NCAM1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000606", "id": "NP_000606" }, { "name": "NCAM", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P13591", "id": "P13591" } ], "protein_names": [ { "name": "Neural cell adhesion molecule 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P13591" }, { "name": "N-CAM-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13591" }, { "name": "NCAM-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13591" }, { "name": "antigen recognized by monoclonal antibody 5.1H11; neural cell adhesion molecule, NCAM", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000606", "id": "NP_000606" }, { "name": "neural cell adhesion molecule 1 isoform 1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000606", "id": "NP_000606" } ], "function": [ { "annotation": "(Microbial infection) Acts as a receptor for Zika virus.", "evidence": [ { "database": "UniProtKB", "id": "P13591", "url": "https://www.uniprot.org/uniprot/P13591#function" }, { "database": "PubMed", "id": "32753727", "url": "https://glygen.org/publication/PubMed/32753727" } ] }, { "annotation": "(Microbial infection) Acts as a receptor for rabies virus.", "evidence": [ { "database": "UniProtKB", "id": "P13591", "url": "https://www.uniprot.org/uniprot/P13591#function" }, { "database": "PubMed", "id": "9696812", "url": "https://glygen.org/publication/PubMed/9696812" } ] }, { "annotation": "A Comparative Study of CD56 and Smooth Muscle Actin Expression in Basal and Squamous Cell Carcinomas.", "evidence": [ { "database": "RefSeq", "id": "NP_000606", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000606" }, { "database": "PubMed", "id": "37982465", "url": "https://glygen.org/publication/PubMed/37982465" } ] }, { "annotation": "CD56-positive diffuse large B-cell lymphoma: comprehensive analysis of clinical, pathological, and molecular characteristics with literature review. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000606", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000606" }, { "database": "PubMed", "id": "36942468", "url": "https://glygen.org/publication/PubMed/36942468" } ] }, { "annotation": "Investigation of CD56, ADAM17 and FGF21 Expressions in the Placentas of Preeclampsia Cases. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000606", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000606" }, { "database": "PubMed", "id": "37374349", "url": "https://glygen.org/publication/PubMed/37374349" } ] }, { "annotation": "Plasma-derived extracellular vesicle surface markers CD45, CD326 and CD56 correlate with the stage of osteoarthritis: a primary study of a novel and promising diagnostic tool of the disease. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000606", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000606" }, { "database": "PubMed", "id": "37973964", "url": "https://glygen.org/publication/PubMed/37973964" } ] }, { "annotation": "This gene encodes a cell adhesion protein which is a member of the immunoglobulin superfamily. The encoded protein is involved in cell-to-cell interactions as well as cell-matrix interactions during development and differentiation. The encoded protein plays a role in the development of the nervous system by regulating neurogenesis, neurite outgrowth, and cell migration. This protein is also involved in the expansion of T lymphocytes, B lymphocytes and natural killer (NK) cells which play an important role in immune surveillance. This protein plays a role in signal transduction by interacting with fibroblast growth factor receptors, N-cadherin and other components of the extracellular matrix and by triggering signalling cascades involving FYN-focal adhesion kinase (FAK), mitogen-activated protein kinase (MAPK), and phosphatidylinositol 3-kinase (PI3K). One prominent isoform of this gene, cell surface molecule CD56, plays a role in several myeloproliferative disorders such as acute myeloid leukemia and differential expression of this gene is associated with differential disease progression. For example, increased expression of CD56 is correlated with lower survival in acute myeloid leukemia patients whereas increased severity of COVID-19 is correlated with decreased abundance of CD56-expressing NK cells in peripheral blood. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. [provided by RefSeq, Aug 2020].", "evidence": [ { "database": "RefSeq", "id": "NP_000606", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000606" } ] }, { "annotation": "This protein is a cell adhesion molecule involved in neuron-neuron adhesion, neurite fasciculation, outgrowth of neurites, etc.", "evidence": [ { "database": "UniProtKB", "id": "P13591", "url": "https://www.uniprot.org/uniprot/P13591#function" } ] }, { "annotation": "[Prognostic Value of CD56 Expression in Newly Diagnosed Multiple Myeloma Patients and Its Related Factors].", "evidence": [ { "database": "RefSeq", "id": "NP_000606", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000606" }, { "database": "PubMed", "id": "37356939", "url": "https://glygen.org/publication/PubMed/37356939" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs782116195", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782116195" }, { "id": "rs782116195", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782116195" }, { "id": "rs782116195", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs782116195" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 102, "end_pos": 102, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DGS->NGS).", "chr_id": "11", "chr_pos": "113204462", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D102", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1555112998", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555112998" }, { "id": "rs1555112998", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1555112998" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 211, "end_pos": 211, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVP->NVT).", "chr_id": "11", "chr_pos": "113207263", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P211", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs199787286", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199787286" }, { "id": "rs199787286", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs199787286" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 224, "end_pos": 224, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->NAP).", "chr_id": "11", "chr_pos": "113207302", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T224", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs782021360", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782021360" }, { "id": "rs782021360", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782021360" }, { "id": "rs782021360", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs782021360" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 228, "end_pos": 228, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLG->NLS).", "chr_id": "11", "chr_pos": "113207314", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G228", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs782304354", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782304354" }, { "id": "rs782304354", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782304354" }, { "id": "rs782304354", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782304354" }, { "id": "rs782304354", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs782304354#frequency_tab" }, { "id": "rs782304354", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs782304354" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 267, "end_pos": 267, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DDS->NDS).", "chr_id": "11", "chr_pos": "113207885", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D267", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs782083514", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782083514" }, { "id": "rs782083514", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782083514" }, { "id": "rs782083514", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782083514" }, { "id": "rs782083514", "database": 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passed 1 out of 1 filters: n-glyco-sequon-loss (NQT->NQI).", "chr_id": "11", "chr_pos": "113214402", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T317", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1555114109", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555114109" }, { "id": "rs1555114109", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1555114109" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 349, "end_pos": 349, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIS->NIG).", "chr_id": "11", "chr_pos": "113214497", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S349", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1555117413", "database": "dbSNP", "url": 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"https://bgee.org/?page=gene&gene_id=ENSG00000149294" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "57.51", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000149294", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149294" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "83.95", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000149294", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149294" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "92.67", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000149294", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149294" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "89.8", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000149294", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149294" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "81.03", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000149294", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149294" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "65.06", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000149294", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149294" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "87.93", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000149294", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149294" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "88.64", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000149294", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149294" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "63.35", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000149294", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149294" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "68.71", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000149294", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149294" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "84.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000149294", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149294" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "71.45", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000149294", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149294" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P13591", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13591" } ], "disease": [ { 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", 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large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P13591", "url": "https://www.uniprot.org/uniprot/P13591" } ], "common_name": "Human" } ], "gene": [ { "name": "NCAM1", "url": "https://www.uniprot.org/uniprot/P13591", "locus": { "chromosome": "11", "start_pos": 113278436, "end_pos": 112961275, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000149294", "url": "https://www.ensembl.org/id/ENSG00000149294" } ] } } ], "crossref": [ { "id": "ENSG00000149294", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149294", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd00063", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00063", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd00096", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00096", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd05865", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd05865", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd05869", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd05869", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL3712938", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL3712938", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "NCAM1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=NCAM1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "4684", "url": "https://www.ncbi.nlm.nih.gov/gene/4684", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "1545", "url": "https://glyconnect.expasy.org/browser/proteins/1545", "database": "GlyConnect", "categories": [ "Glycoproteomics", "Glycan" ] }, { "id": "7656", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7656", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P13591", "url": "https://www.ebi.ac.uk/intact/interactors/id:P13591*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR003598", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003598", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003599", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003599", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003961", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003961", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR007110", "url": "https://www.ebi.ac.uk/interpro/entry/IPR007110", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR009138", "url": "https://www.ebi.ac.uk/interpro/entry/IPR009138", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013098", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013098", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013783", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013783", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036116", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036116", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036179", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036179", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:4684", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4684", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "116930", "url": "http://www.omim.org/entry/116930", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P13591", "url": "https://www.nextprot.org/entry/NX_P13591", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "DSKQKGQ", "url": "https://omabrowser.org/oma/group/DSKQKGQ/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5233206at2759", "url": "http://www.orthodb.org/?query=5233206at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR12231", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12231", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR12231:SF239", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12231:SF239", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "2E3V", "url": "https://www.rcsb.org/structure/2E3V", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2HAZ", "url": "https://www.rcsb.org/structure/2HAZ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2VKW", "url": "https://www.rcsb.org/structure/2VKW", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2VKX", "url": "https://www.rcsb.org/structure/2VKX", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3MTR", "url": "https://www.rcsb.org/structure/3MTR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5AEA", "url": "https://www.rcsb.org/structure/5AEA", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5LKN", "url": "https://www.rcsb.org/structure/5LKN", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00041", "url": "http://pfam.xfam.org/family/PF00041", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07679", "url": "http://pfam.xfam.org/family/PF07679", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF13927", "url": "http://pfam.xfam.org/family/PF13927", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P13591", "url": "https://pharos.nih.gov/targets/P13591", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000055077", "url": "https://proconsortium.org/app/entry/PR:000055077", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000055078", "url": "https://proconsortium.org/app/entry/PR:000055078", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_P13591", "url": "http://purl.obolibrary.org/obo/PR_P13591", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-375165", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375165", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-445144", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445144", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000606", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000606", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P13591", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "P13591", "url": "https://www.uniprot.org/uniprot/P13591", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P13591-1", "url": "https://www.uniprot.org/uniprot/P13591-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P13591-2", "url": "https://www.uniprot.org/uniprot/P13591-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P13591-3", "url": "https://www.uniprot.org/uniprot/P13591-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P13591-4", "url": "https://www.uniprot.org/uniprot/P13591-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P13591-5", "url": "https://www.uniprot.org/uniprot/P13591-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P13591-6", "url": "https://www.uniprot.org/uniprot/P13591-6", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MLQTKDLIWTLFFLGTAVSLQVDIVPSQGEISVGESKFFLCQVAGDAKDKDISWFSPNGEKLTPNQQRISVVWNDDSSSTLTIYNANIDDAGIYKCVVTGEDGSESEATVNVKIFQKLMFKNAPTPQEFREGEDAVIVCDVVSSLPPTIIWKHKGRDVILKKDVRFIVLSNNYLQIRGIKKTDEGTYRCEGRILARGEINFKDIQVIVNVPPTIQARQNIVNATANLGQSVTLVCDAEGFPEPTMSWTKDGEQIEQEEDDEKYIFSDDSSQLTIKKVDKNDEAEYICIAENKAGEQDATIHLKVFAKPKITYVENQTAMELEEQVTLTCEASGDPIPSITWRTSTRNISSEEKASWTRPEKQETLDGHMVVRSHARVSSLTLKSIQYTDAGEYICTASNTIGQDSQSMYLEVQYAPKLQGPVAVYTWEGNQVNITCEVFAYPSATISWFRDGQLLPSSNYSNIKIYNTPSASYLEVTPDSENDFGNYNCTAVNRIGQESLEFILVQADTPSSPSIDQVEPYSSTAQVQFDEPEATGGVPILKYKAEWRAVGEEVWHSKWYDAKEASMEGIVTIVGLKPETTYAVRLAALNGKGLGEISAASEFKTQPVQGEPSAPKLEGQMGEDGNSIKVNLIKQDDGGSPIRHYLVRYRALSSEWKPEIRLPSGSDHVMLKSLDWNAEYEVYVVAENQQGKSKAAHFVFRTSAQPTAIPANGSPTSGLSTGAIVGILIVIFVLLLVVVDITCYFLNKCGLFMCIAVNLCGKAGPGAKGKDMEEGKAAFSKDESKEPIVEVRTEEERTPNHDGGKHTEPNETTPLTEPEKGPVEAKPECQETETKPAPAEVKTVPNDATQTKENESKA", "length": 858, "header": "sp|P13591-2|NCAM1_HUMAN Isoform 2 of Neural cell adhesion molecule 1 OS=Homo sapiens OX=9606 GN=NCAM1 PE=1 SV=3 CANONICAL=P13591-2" }, "isoforms": [ { "isoform_ac": "P13591-1", "url": "", "sequence": { "sequence": "MLQTKDLIWTLFFLGTAVSLQVDIVPSQGEISVGESKFFLCQVAGDAKDKDISWFSPNGEKLTPNQQRISVVWNDDSSSTLTIYNANIDDAGIYKCVVTGEDGSESEATVNVKIFQKLMFKNAPTPQEFREGEDAVIVCDVVSSLPPTIIWKHKGRDVILKKDVRFIVLSNNYLQIRGIKKTDEGTYRCEGRILARGEINFKDIQVIVNVPPTIQARQNIVNATANLGQSVTLVCDAEGFPEPTMSWTKDGEQIEQEEDDEKYIFSDDSSQLTIKKVDKNDEAEYICIAENKAGEQDATIHLKVFAKPKITYVENQTAMELEEQVTLTCEASGDPIPSITWRTSTRNISSEEKTLDGHMVVRSHARVSSLTLKSIQYTDAGEYICTASNTIGQDSQSMYLEVQYAPKLQGPVAVYTWEGNQVNITCEVFAYPSATISWFRDGQLLPSSNYSNIKIYNTPSASYLEVTPDSENDFGNYNCTAVNRIGQESLEFILVQADTPSSPSIDQVEPYSSTAQVQFDEPEATGGVPILKYKAEWRAVGEEVWHSKWYDAKEASMEGIVTIVGLKPETTYAVRLAALNGKGLGEISAASEFKTQPVQGEPSAPKLEGQMGEDGNSIKVNLIKQDDGGSPIRHYLVRYRALSSEWKPEIRLPSGSDHVMLKSLDWNAEYEVYVVAENQQGKSKAAHFVFRTSAQPTAIPANGSPTSGLSTGAIVGILIVIFVLLLVVVDITCYFLNKCGLFMCIAVNLCGKAGPGAKGKDMEEGKAAFSKDESKEPIVEVRTEEERTPNHDGGKHTEPNETTPLTEPEKGPVEAKPECQETETKPAPAEVKTVPNDATQTKENESKA", "length": 848, "header": "sp|P13591-1|NCAM1_HUMAN Isoform 1 of Neural cell adhesion molecule 1 OS=Homo sapiens OX=9606 GN=NCAM1 PE=1 SV=3 CANONICAL=P13591-2" }, "locus": { "chromosome": "11", "start_pos": 113275384, "end_pos": 112961613, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000531044.5", "url": "https://www.ensembl.org/id/ENST00000531044.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000484943.1", "url": "https://www.ensembl.org/id/ENSP00000484943.1" } ] } }, { "isoform_ac": "P13591-2", "url": "", "sequence": { "sequence": "MLQTKDLIWTLFFLGTAVSLQVDIVPSQGEISVGESKFFLCQVAGDAKDKDISWFSPNGEKLTPNQQRISVVWNDDSSSTLTIYNANIDDAGIYKCVVTGEDGSESEATVNVKIFQKLMFKNAPTPQEFREGEDAVIVCDVVSSLPPTIIWKHKGRDVILKKDVRFIVLSNNYLQIRGIKKTDEGTYRCEGRILARGEINFKDIQVIVNVPPTIQARQNIVNATANLGQSVTLVCDAEGFPEPTMSWTKDGEQIEQEEDDEKYIFSDDSSQLTIKKVDKNDEAEYICIAENKAGEQDATIHLKVFAKPKITYVENQTAMELEEQVTLTCEASGDPIPSITWRTSTRNISSEEKASWTRPEKQETLDGHMVVRSHARVSSLTLKSIQYTDAGEYICTASNTIGQDSQSMYLEVQYAPKLQGPVAVYTWEGNQVNITCEVFAYPSATISWFRDGQLLPSSNYSNIKIYNTPSASYLEVTPDSENDFGNYNCTAVNRIGQESLEFILVQADTPSSPSIDQVEPYSSTAQVQFDEPEATGGVPILKYKAEWRAVGEEVWHSKWYDAKEASMEGIVTIVGLKPETTYAVRLAALNGKGLGEISAASEFKTQPVQGEPSAPKLEGQMGEDGNSIKVNLIKQDDGGSPIRHYLVRYRALSSEWKPEIRLPSGSDHVMLKSLDWNAEYEVYVVAENQQGKSKAAHFVFRTSAQPTAIPANGSPTSGLSTGAIVGILIVIFVLLLVVVDITCYFLNKCGLFMCIAVNLCGKAGPGAKGKDMEEGKAAFSKDESKEPIVEVRTEEERTPNHDGGKHTEPNETTPLTEPEKGPVEAKPECQETETKPAPAEVKTVPNDATQTKENESKA", "length": 858, "header": "sp|P13591-2|NCAM1_HUMAN Isoform 2 of Neural cell adhesion molecule 1 OS=Homo sapiens OX=9606 GN=NCAM1 PE=1 SV=3 CANONICAL=P13591-2" }, "locus": { "chromosome": "11", "start_pos": 113275384, "end_pos": 112961613, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000316851.12", "url": "https://www.ensembl.org/id/ENST00000316851.12" }, { "database": "Ensembl Peptide", "id": "ENSP00000318472.8", "url": "https://www.ensembl.org/id/ENSP00000318472.8" } ] } }, { "isoform_ac": "P13591-3", "url": "", "sequence": { "sequence": "MLQTKDLIWTLFFLGTAVSLQVDIVPSQGEISVGESKFFLCQVAGDAKDKDISWFSPNGEKLTPNQQRISVVWNDDSSSTLTIYNANIDDAGIYKCVVTGEDGSESEATVNVKIFQKLMFKNAPTPQEFREGEDAVIVCDVVSSLPPTIIWKHKGRDVILKKDVRFIVLSNNYLQIRGIKKTDEGTYRCEGRILARGEINFKDIQVIVNVPPTIQARQNIVNATANLGQSVTLVCDAEGFPEPTMSWTKDGEQIEQEEDDEKYIFSDDSSQLTIKKVDKNDEAEYICIAENKAGEQDATIHLKVFAKPKITYVENQTAMELEEQVTLTCEASGDPIPSITWRTSTRNISSEEKTLDGHMVVRSHARVSSLTLKSIQYTDAGEYICTASNTIGQDSQSMYLEVQYAPKLQGPVAVYTWEGNQVNITCEVFAYPSATISWFRDGQLLPSSNYSNIKIYNTPSASYLEVTPDSENDFGNYNCTAVNRIGQESLEFILVQADTPSSPSIDQVEPYSSTAQVQFDEPEATGGVPILKYKAEWRAVGEEVWHSKWYDAKEASMEGIVTIVGLKPETTYAVRLAALNGKGLGEISAASEFKTQPVHSPPPPASASSSTPVPLSPPDTTWPLPALATTEPAKGEPSAPKLEGQMGEDGNSIKVNLIKQDDGGSPIRHYLVRYRALSSEWKPEIRLPSGSDHVMLKSLDWNAEYEVYVVAENQQGKSKAAHFVFRTSAQPTAIPATLGGNSASYTFVSLLFSAVTLLLLC", "length": 761, "header": "sp|P13591-3|NCAM1_HUMAN Isoform 3 of Neural cell adhesion molecule 1 OS=Homo sapiens OX=9606 GN=NCAM1 PE=1 SV=3 CANONICAL=P13591-2" }, "locus": { "chromosome": "11", "start_pos": 113262922, "end_pos": 112961613, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000621850.4", "url": "https://www.ensembl.org/id/ENST00000621850.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000480774.1", "url": "https://www.ensembl.org/id/ENSP00000480774.1" } ] } }, { "isoform_ac": "P13591-4", "url": "", "sequence": { "sequence": 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"https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G82830MN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 347, "start_aa": "Asn", "end_pos": 347, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn347", "evidence": [ { "id": "1545", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1545" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G91636VS", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 347, "start_aa": "Asn", "end_pos": 347, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn347", "evidence": [ { "id": "1545", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1545" }, { "id": "29741879", "database": "PubMed", "url": 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the human O-GalNAc glycoproteome through SimpleCell technology", "journal": "EMBO J", "date": "2013", "authors": "Steentoft C., Vakhrushev S.Y., Joshi H.J., Kong Y., Vester-Christensen M.B., Schjoldager K.T., Lavrsen K., Dabelsteen S., Pedersen N.B., Marcos-Silva L., Gupta R., Bennett E.P., Mandel U., Brunak S., Wandall H.H., Levery S.B., Clausen H.", "evidence": [ { "database": "UniCarbKB", "id": "P13591", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1038/emboj.2013.79", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "title": "Binding of the G domains of laminin alpha1 and alpha2 chains and perlecan to heparin, sulfatides, alpha-dystroglycan and several extracellular matrix proteins.", "journal": "The EMBO journal", "date": "1999", "authors": "Talts JF, Andac Z, Gohring W, Brancaccio A, Timpl R", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "10022829", "url": "https://glygen.org/publication/PubMed/10022829" } ] }, { "title": "Inhibition of transforming growth factor-beta/SMAD signalling by the interferon-gamma/STAT pathway.", "journal": "Nature", "date": "1999", "authors": "Ulloa L, Doody J, Massague J", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "10067896", "url": "https://glygen.org/publication/PubMed/10067896" } ] }, { "title": "Agrin in Alzheimer's disease: altered solubility and abnormal distribution within microvasculature and brain parenchyma.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Donahue JE, Berzin TM, Rafii MS, Glass DJ, Yancopoulos GD, Fallon JR, Stopa EG", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": 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