NCAM1 (neural cell adhesion molecule 1)

Gene

• Entrez ID: 4684
• Gene name: Neural cell adhesion molecule 1
• Gene symbol: NCAM1
• Synonyms: CD56, MSK39, NCAM
• 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 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]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003090	hsa-miR-122-5p	Luciferase reporter assay, qRT-PCR	19296470
MIRT003090	hsa-miR-122-5p	Microarray	17179747
MIRT003090	hsa-miR-122-5p	Microarray	17612493
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
MIRT731768	hsa-miR-30a-5p	Luciferase reporter assay, qRT-PCR, Western blot	26255203
MIRT784659	hsa-miR-3148	HITS-CLIP	27418678
MIRT788325	hsa-miR-651-3p	HITS-CLIP	27418678

Transcription factors

Transcription factor	Regulation	Reference
IRF9	Activation	17431130
NFKB1	Activation	19091137
PAX2	Unknown	16406048;19485921
PAX8	Activation	8071351
RELA	Activation	19091137
RUNX1	Activation	16892559
SOX4	Activation	20049565

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0000165	Process	MAPK cascade	TAS
GO:0001618	Function	Virus receptor activity	IEA
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	TAS
GO:0007155	Process	Cell adhesion	IEA
GO:0007411	Process	Axon guidance	TAS
GO:0009897	Component	External side of plasma membrane	IDA	17213291
GO:0009986	Component	Cell surface	IDA	10766765
GO:0016020	Component	Membrane	HDA	19946888
GO:0016021	Component	Integral component of membrane	IEA
GO:0031225	Component	Anchored component of membrane	IEA
GO:0043005	Component	Neuron projection	IBA	21873635
GO:0046718	Process	Viral entry into host cell	IEA
GO:0060333	Process	Interferon-gamma-mediated signaling pathway	TAS
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	27559042
GO:0071679	Process	Commissural neuron axon guidance	ISS
GO:2001260	Process	Regulation of semaphorin-plexin signaling pathway	ISS

Other IDs

• MIM: 116930
• HGNC: 7656
• e!Ensembl: ENSG00000149294

Protein

• 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. ; (Microbial infection) Acts as a receptor for Zika virus.
• 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

Pathways

KEGG:

Cell adhesion molecules (CAMs)
Prion diseases

Reactome:

NCAM signaling for neurite out-growth
NCAM1 interactions
Signal transduction by L1
RAF/MAP kinase cascade
Interferon gamma signaling

Associated diseases

Disease name	Disease term	References
	Bipolar Disorder	17413444, 21515372, 24651862, 17239033, 15050861
	Depression, Bipolar	21939373
	Left Ventricular Hypertrophy	21212386
	Mental Depression	14985425, 18973581, 17409734, 22361116
	Depressive disorder	18973581, 22361116, 17409734, 14985425
	Unipolar Depression	18068248
	Major Depressive Disorder	18068248, 29942085
	Miscarriage	18539642
	Mood Disorders	17409734, 29942085, 15050861
	Schizophrenia	24057454, 25445624, 21515372, 31374203