Gene Gene information from NCBI Gene database.
Entrez ID 4684
Gene name Neural cell adhesion molecule 1
Gene symbol NCAM1
Synonyms (NCBI Gene)
CD56MSK39NCAM
Chromosome 11
Chromosome location 11q23.2
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 pla
miRNA miRNA information provided by mirtarbase database.
106
miRTarBase ID miRNA Experiments Reference
MIRT003090 hsa-miR-122-5p Luciferase reporter assayqRT-PCR 19296470
MIRT003159 hsa-miR-210-3p immunoprecipitaionLuciferase reporter assayMicroarrayqRT-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 Transcription factors information provided by TRRUST V2 database.
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
116930 7656 ENSG00000149294
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
KLTPNQQRISVVWNDDSSSTLTIYNANIDDAGIYKCVVTGEDGSESEATVNVKI
FQKLMF
KNAPTPQEFREGEDAVIVCDVVSSLPPTIIWKHKGRDVILKKDVRFIVLSNNYLQIRGIK
KTDEGTYRCEGR
ILARGEINFKDIQVIVNVPPTIQARQNIVNATANLGQSVTLVCDAEGF
PEPTMSWTKDGEQIEQEEDDEKYIFSDDSSQLTIKKVDKNDEAEYICIAENKAGEQDATI
HLKV
FAKPKITYVENQTAMELEEQVTLTCEASGDPIPSITWRTSTRNISSEEKASWTRPE
KQETLDGHMVVRSHARVSSLTLKSIQYTDAGEYICTASN
TIGQDSQSMYLEVQYAPKLQG
PVAVYTWEGNQVNITCEVFAYPSATISWFRDGQLLPSSNYSNIKIYNTPSASYLEVTPDS
ENDFGNYNCTAVNRIGQESLEFILV
QADTPSSPSIDQVEPYSSTAQVQFDEPEATGGVPI
LKYKAEWRAVGEEVWHSKWYDAKEASMEGIVTIVGLKPETTYAVRLAALNGKGLGEIS
AA
SEFKTQPVQGEPSAPKLEGQMGEDGNSIKVNLIKQDDGGSPIRHYLVRYRALSSEWKPEI
RLPSGSDHVMLKSLDWNAEYEVYVVAENQQGKSKAA
HFVFRTSAQPTAIPANGSPTSGLS
TGAIVGILIVIFVLLLVVVDITCYFLNKCGLFMCIAVNLCGKAGPGAKGKDMEEGKAAFS
KDESKEPIVEVRTEEERTPNHDGGKHTEPNETTPLTEPEKGPVEAKPECQETETKPAPAE
VKTVPNDATQTKENESKA
Sequence length 858
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
30
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANOREXIA NERVOSA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acromegaly Acromegaly BEFREE 29890543
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 10914547, 12010820, 12953810, 9310493
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 11279625, 12008081, 15626024, 27734763
★☆☆☆☆
Found in Text Mining only
Acute Megakaryocytic Leukemias Megakaryocytic Leukemia BEFREE 25361478
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 10583228, 11835327, 15289011, 17662713, 20694842, 21156247, 29862539, 30814062, 31765481, 9269784
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia (AML-M2) Leukemia BEFREE 10391105
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 11835333, 15108165, 15193442, 24206578, 26183877, 30322324
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 11263866, 22261536, 23441128, 26482608
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 26428847
★☆☆☆☆
Found in Text Mining only
Adenoid Cystic Carcinoma Adenocarcinoma LHGDN 17982624
★☆☆☆☆
Found in Text Mining only