NCAM1 (neural cell adhesion molecule 1)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4684
Gene name Gene Name - the full gene name approved by the HGNC.
Neural cell adhesion molecule 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NCAM1
Synonyms (NCBI Gene) Gene synonyms aliases
CD56, MSK39, NCAM
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q23.2
Summary Summary of gene provided in NCBI Entrez Gene.
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 pla
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(106)
miRTarBase ID miRNA Experiments Reference
MIRT003090 hsa-miR-122-5p Luciferase reporter assay, qRT-PCR 19296470
MIRT003159 hsa-miR-210-3p immunoprecipitaion, Luciferase reporter assay, Microarray, qRT-PCR 19826008
MIRT006773 hsa-miR-200c-3p Luciferase reporter assay 22707408
MIRT019976 hsa-miR-375 qRT-PCR;Microarray 20584986
MIRT003090 hsa-miR-122-5p Microarray 17179747
Transcription factors
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(7)
Transcription factor Regulation Reference
IRF9 Activation 17431130
NFKB1 Activation 19091137
PAX2 Unknown 16406048;19485921
PAX8 Activation 8071351
RELA Activation 19091137
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(22)
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0001618 Function Virus receptor activity IEA
GO:0001837 Process Epithelial to mesenchymal transition ISS
GO:0005515 Function Protein binding IPI 32814053
GO:0005576 Component Extracellular region IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
116930 7656 ENSG00000149294
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P13591
Protein name Neural cell adhesion molecule 1 (N-CAM-1) (NCAM-1) (CD antigen CD56)
Protein function This protein is a cell adhesion molecule involved in neuron-neuron adhesion, neurite fasciculation, outgrowth of neurites, etc.; (Microbial infection) Acts as a receptor for rabies virus. ; (Micro
PDB 2E3V , 2HAZ , 2VKW , 2VKX , 3MTR , 5AEA , 5LKN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07679 I-set 20 → 114 Immunoglobulin I-set domain Domain
PF13927 Ig_3 119 → 192 Domain
PF07679 I-set 214 → 304 Immunoglobulin I-set domain Domain
PF13927 Ig_3 307 → 399 Domain
PF07679 I-set 418 → 505 Immunoglobulin I-set domain Domain
PF00041 fn3 508 → 598 Fibronectin type III domain Domain
PF00041 fn3 610 → 696 Fibronectin type III domain Domain
Sequence 
MLQTKDLIWTLFFLGTAVSLQVDIVPSQGEISVGESKFFLCQVAGDAKDKDISWFSPNGE
KLTPNQQRISVVWNDDSSSTLTIYNANIDDAGIYKCVVTGEDGSESEATVNVKIFQKLMF
KNAPTPQEFREGEDAVIVCDVVSSLPPTIIWKHKGRDVILKKDVRFIVLSNNYLQIRGIK
KTDEGTYRCEGRILARGEINFKDIQVIVNVPPTIQARQNIVNATANLGQSVTLVCDAEGF
PEPTMSWTKDGEQIEQEEDDEKYIFSDDSSQLTIKKVDKNDEAEYICIAENKAGEQDATI
HLKVFAKPKITYVENQTAMELEEQVTLTCEASGDPIPSITWRTSTRNISSEEKASWTRPE
KQETLDGHMVVRSHARVSSLTLKSIQYTDAGEYICTASNTIGQDSQSMYLEVQYAPKLQG
PVAVYTWEGNQVNITCEVFAYPSATISWFRDGQLLPSSNYSNIKIYNTPSASYLEVTPDS
ENDFGNYNCTAVNRIGQESLEFILVQADTPSSPSIDQVEPYSSTAQVQFDEPEATGGVPI
LKYKAEWRAVGEEVWHSKWYDAKEASMEGIVTIVGLKPETTYAVRLAALNGKGLGEISAA
SEFKTQPVQGEPSAPKLEGQMGEDGNSIKVNLIKQDDGGSPIRHYLVRYRALSSEWKPEI
RLPSGSDHVMLKSLDWNAEYEVYVVAENQQGKSKAAHFVFRTSAQPTAIPANGSPTSGLS
TGAIVGILIVIFVLLLVVVDITCYFLNKCGLFMCIAVNLCGKAGPGAKGKDMEEGKAAFS
KDESKEPIVEVRTEEERTPNHDGGKHTEPNETTPLTEPEKGPVEAKPECQETETKPAPAE
VKTVPNDATQTKENESKA
Sequence length 858
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Virion - Ebolavirus, Lyssavirus and Morbillivirus
Cell adhesion molecules
Prion disease 		  NCAM signaling for neurite out-growth
NCAM1 interactions
Signal transduction by L1
RAF/MAP kinase cascade
Interferon gamma signaling
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (10)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Anxiety Disorder Anxiety N/A N/A GWAS
Breast Cancer Breast cancer specific mortality in estrogen receptor negative breast cancer N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Gastroesophageal Reflux Disease Gastroesophageal reflux disease N/A N/A GWAS
Show/Hide Text Mining Associations (381)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 29316245
Abortion Habitual Associate 24807109
Abortion Spontaneous Inhibit 17482605
Acquired Immunodeficiency Syndrome Associate 9576185
Acute erythroleukemia Associate 18061959, 32212802
Acute Kidney Injury Associate 37569838
Adenocarcinoma Associate 27275582, 33933015, 38124509
Adenocarcinoma Stimulate 28155979
Adenocarcinoma Follicular Associate 26097548
Adenocarcinoma in Situ Inhibit 35008799