Endometriosis Knowledgebase

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Gene id

4684

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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 been shown to be involved in development of the nervous system, and for cells involved in the expansion of T cells and dendritic cells which play an important role in immune surveillance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011]

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 IPR007110 IPR013783 IPR013098 IPR003599 IPR003598 IPR009138
Prosite:	PS50853 PS50835
Pfam:	PF00041 PF07679
CDD:	cd00063
PDB:	2E3V 2HAZ 2VKW 2VKX 3MTR 5AEA 5LKN
PDBsum:	2E3V 2HAZ 2VKW 2VKX 3MTR 5AEA 5LKN
DIP:	59530
MINT:	4103137
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 exc hange 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 m embrane	IDA	cellular_component
GO:0009986	cell surface	IDA	cellular_component
GO:0016020	membrane	IDA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0031225	anchored component of mem brane	IEA	cellular_component
GO:0042802	identical protein binding	IPI	molecular_function
GO:0043547	positive regulation of GT Pase activity	IEA	biological_process
GO:0046718	viral entry into host cel l	IEA	biological_process
GO:0048167	regulation of synaptic pl asticity	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 exc hange 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 m embrane	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 mem brane	IEA	cellular_component
GO:0016021	integral component of mem brane	TAS	cellular_component
GO:0016032	viral process	IEA	biological_process
GO:0031175	neuron projection develop ment	IEA	biological_process
GO:0031225	anchored component of mem brane	IEA	cellular_component
GO:0042802	identical protein binding	IPI	molecular_function
GO:0043547	positive regulation of GT Pase activity	IEA	biological_process
GO:0046718	viral entry into host cel l	IEA	biological_process
GO:0048167	regulation of synaptic pl asticity	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 exc hange 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 m embrane	IDA	cellular_component
GO:0009986	cell surface	IDA	cellular_component
GO:0016020	membrane	IDA	cellular_component
GO:0016021	integral component of mem brane	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

hsa04514 Cell adhesion molecules
hsa05020 Prion diseases

Diseases

Associated diseases	References
Alzheimer's disease	PMID: 21116278
Bipolar disorder	PMID: 17413444
Endometriosis	PMID: 9804254
Male infertility	PMID: 14568679
Adenomyosis	INFBASE9804254
Endometriosis	INFBASE16533339
Recurrent pregnancy loss (RPL)/ Abortion/ Miscarriage/ Recurrent pregnancy failure/Pregnancy loss/ Recurrent miscarriage/ Spontaneous abortion	PMID: 17482605
Schizophrenia	PMID: 18601968
Unexplained infertility	PMID: 7519197

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
16533339	Endometrio sis					CD56 CD95 CD69	Show abstract
9804254	Endometrio sis			75 (30 normal e ndometrium, 30 eutopic and ect opic (endometri otic or adenomy otic lesions) e ndometrium from women with end ometriosis, 15 eutopic and ect opic (endometri otic or adenomy otic lesions) e ndometrium from women with ade nomyosis )			Show abstract