• Gene id: 4684

Gene Summary

• Gene Symbol: NCAM1   Gene   UCSC   Ensembl
• Aliases: CD56, MSK39, NCAM
• Gene name: neural cell adhesion molecule 1
• Alternate names: neural cell adhesion molecule 1, antigen recognized by monoclonal antibody 5.1H11, neural cell adhesion molecule, NCAM,
• Gene location: 11q23.2 (112961246: 113278435)     Exons: 25     NC_000011.10
• Gene summary(Entrez): 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 has
• OMIM: 116930

Protein Summary

• Protein general information: P13591  
  • Name: Neural cell adhesion molecule 1 (N CAM 1) (NCAM 1) (CD antigen CD56)
  • Length: 858  
  • Mass: 94,574
• Sequence:

  MLQTKDLIWTLFFLGTAVSLQVDIVPSQGEISVGESKFFLCQVAGDAKDKDISWFSPNGEKLTPNQQRISVVWND
  DSSSTLTIYNANIDDAGIYKCVVTGEDGSESEATVNVKIFQKLMFKNAPTPQEFREGEDAVIVCDVVSSLPPTII
  WKHKGRDVILKKDVRFIVLSNNYLQIRGIKKTDEGTYRCEGRILARGEINFKDIQVIVNVPPTIQARQNIVNATA
  NLGQSVTLVCDAEGFPEPTMSWTKDGEQIEQEEDDEKYIFSDDSSQLTIKKVDKNDEAEYICIAENKAGEQDATI
  HLKVFAKPKITYVENQTAMELEEQVTLTCEASGDPIPSITWRTSTRNISSEEKASWTRPEKQETLDGHMVVRSHA
  RVSSLTLKSIQYTDAGEYICTASNTIGQDSQSMYLEVQYAPKLQGPVAVYTWEGNQVNITCEVFAYPSATISWFR
  DGQLLPSSNYSNIKIYNTPSASYLEVTPDSENDFGNYNCTAVNRIGQESLEFILVQADTPSSPSIDQVEPYSSTA
  QVQFDEPEATGGVPILKYKAEWRAVGEEVWHSKWYDAKEASMEGIVTIVGLKPETTYAVRLAALNGKGLGEISAA
  SEFKTQPVQGEPSAPKLEGQMGEDGNSIKVNLIKQDDGGSPIRHYLVRYRALSSEWKPEIRLPSGSDHVMLKSLD
  WNAEYEVYVVAENQQGKSKAAHFVFRTSAQPTAIPANGSPTSGLSTGAIVGILIVIFVLLLVVVDITCYFLNKCG
  LFMCIAVNLCGKAGPGAKGKDMEEGKAAFSKDESKEPIVEVRTEEERTPNHDGGKHTEPNETTPLTEPEKGPVEA
  KPECQETETKPAPAEVKTVPNDATQTKENESKA

• Structural information:
  • Protein Domains: Ig-like (20-111)
    Ig-like (116-205)
    Ig-like (212-301)
    Ig-like (308-413)
    Ig-like (416-501)
    Fibronectin (509-608)
    (-)
  • Interpro: IPR003961  IPR036116  IPR007110  IPR036179  IPR013783   IPR013098  IPR003599  IPR003598  IPR033019  IPR009138  
  • Prosite: PS50853 PS50835
  • CDD: cd00063
  • PDB: 2E3V 2HAZ 2VKW 2VKX 3MTR 5AEA 5LKN
  • PDBsum: 2E3V 2HAZ 2VKW 2VKX 3MTR 5AEA 5LKN
  • DIP: 59530
  • STRING: ENSP00000318472
• Other Databases: GeneCards:  NCAM1  Malacards:  NCAM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000165	MAPK cascade	TAS	biological process
GO:0001618	virus receptor activity	IEA	molecular function
GO:0005088	Ras guanyl-nucleotide exchange factor activity	TAS	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0007411	axon guidance	TAS	biological process
GO:0009897	external side of plasma membrane	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0031225	anchored component of membrane	IEA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0046718	viral entry into host cell	IEA	biological process
GO:0048167	regulation of synaptic plasticity	IEA	biological process
GO:0060333	interferon-gamma-mediated signaling pathway	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000165	MAPK cascade	TAS	biological process
GO:0001618	virus receptor activity	IEA	molecular function
GO:0005088	Ras guanyl-nucleotide exchange factor activity	TAS	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0007155	cell adhesion	IEA	biological process
GO:0007155	cell adhesion	NAS	biological process
GO:0007411	axon guidance	TAS	biological process
GO:0009897	external side of plasma membrane	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	TAS	cellular component
GO:0016032	viral process	IEA	biological process
GO:0031175	neuron projection development	IEA	biological process
GO:0031225	anchored component of membrane	IEA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0046718	viral entry into host cell	IEA	biological process
GO:0048167	regulation of synaptic plasticity	IEA	biological process
GO:0060333	interferon-gamma-mediated signaling pathway	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000165	MAPK cascade	TAS	biological process
GO:0005088	Ras guanyl-nucleotide exchange factor activity	TAS	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007155	cell adhesion	NAS	biological process
GO:0007411	axon guidance	TAS	biological process
GO:0009897	external side of plasma membrane	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0016021	integral component of membrane	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0060333	interferon-gamma-mediated signaling pathway	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04514	Cell adhesion molecules
hsa05020	Prion diseases

Diseases

Associated diseases	References
Alzheimer's disease	GAD: 21116278
Schizophrenia	GAD: 18601968
Psychological disorders	GAD: 19086053
Bipolar disorder	GAD: 15050861
Affective disorder	GAD: 15050861
Female infertility	INFBASE: 14505740
Endometriosis	INFBASE: 9804254
Recurrent pregnancy loss (RPL)	INFBASE: 17482605
Unexplained infertility	INFBASE: 7519197
Spontaneous abortion	INFBASE: 14505740
Male factor infertility	MIK: 14568679
Infertility	MIK: 14568679
Infertility	MIK: 14568679
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Idiopathic infertility	MIK: 14568679
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
14568679	Idiopathic infertility			40 (11 patients with idiopathic infertility (study group) with 29 patients in the control group (17 severe male factor infertility, 12 tubal factor infertility))	Male infertility, Female infertility	CD16 CD56
14568679	Idiopathic infertility			40 (11 patients with idiopathic infertility, 29 patients in the control group (17 severe male factor infertility, 12 tubal factor infertility))	Male infertility	CD16 CD56
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray