NCAM1 (neural cell adhesion molecule 1)

2003-02-01 Affiliation

Identity

HGNC

NCAM1

LOCATION

11q23.2

LOCUSID

4684

ALIAS

CD56,MSK39,NCAM

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 4684
MIM: 116930
HGNC: 7656
Ensembl: ENSG00000149294

Variants:

dbSNP: 4684
ClinVar: 4684
TCGA: ENSG00000149294
COSMIC: NCAM1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000149294	ENST00000316851	P13591
ENSG00000149294	ENST00000401611	H7BYX6
ENSG00000149294	ENST00000524916	A0A087WTR3
ENSG00000149294	ENST00000526322	A0A087WVU1
ENSG00000149294	ENST00000528158	A0A0D9SF30
ENSG00000149294	ENST00000528590	A0A087WWJ5
ENSG00000149294	ENST00000529356	P13591
ENSG00000149294	ENST00000530543	A0A087X1V2
ENSG00000149294	ENST00000531044	P13591
ENSG00000149294	ENST00000531817	A0A0C4DGS4
ENSG00000149294	ENST00000533073	A0A0D9SF98
ENSG00000149294	ENST00000613217	A0A087WVD0
ENSG00000149294	ENST00000615112	A0A087WX77
ENSG00000149294	ENST00000615285	A0A087WV75
ENSG00000149294	ENST00000618266	A0A087WTF6
ENSG00000149294	ENST00000619839	A0A087WWD4
ENSG00000149294	ENST00000620046	A0A087WZS4
ENSG00000149294	ENST00000621128	P13591
ENSG00000149294	ENST00000621518	A0A087WTE4
ENSG00000149294	ENST00000621850	P13591

Expression (GTEx)

100

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Cell adhesion molecules (CAMs)	KEGG	ko04514
Cell adhesion molecules (CAMs)	KEGG	hsa04514
Prion diseases	KEGG	ko05020
Prion diseases	KEGG	hsa05020
Immune System	REACTOME	R-HSA-168256
Innate Immune System	REACTOME	R-HSA-168249
DAP12 interactions	REACTOME	R-HSA-2172127
DAP12 signaling	REACTOME	R-HSA-2424491
RAF/MAP kinase cascade	REACTOME	R-HSA-5673001
Fc epsilon receptor (FCERI) signaling	REACTOME	R-HSA-2454202
FCERI mediated MAPK activation	REACTOME	R-HSA-2871796
Cytokine Signaling in Immune system	REACTOME	R-HSA-1280215
Interferon Signaling	REACTOME	R-HSA-913531
Interferon gamma signaling	REACTOME	R-HSA-877300
Signaling by Interleukins	REACTOME	R-HSA-449147
Interleukin-2 signaling	REACTOME	R-HSA-451927
Interleukin receptor SHC signaling	REACTOME	R-HSA-912526
Interleukin-3, 5 and GM-CSF signaling	REACTOME	R-HSA-512988
Signal Transduction	REACTOME	R-HSA-162582
Signaling by EGFR	REACTOME	R-HSA-177929
GRB2 events in EGFR signaling	REACTOME	R-HSA-179812
SHC1 events in EGFR signaling	REACTOME	R-HSA-180336
Signaling by Insulin receptor	REACTOME	R-HSA-74752
Insulin receptor signalling cascade	REACTOME	R-HSA-74751
IRS-mediated signalling	REACTOME	R-HSA-112399
SOS-mediated signalling	REACTOME	R-HSA-112412
Signalling by NGF	REACTOME	R-HSA-166520
NGF signalling via TRKA from the plasma membrane	REACTOME	R-HSA-187037
Signalling to ERKs	REACTOME	R-HSA-187687
Signalling to RAS	REACTOME	R-HSA-167044
Signalling to p38 via RIT and RIN	REACTOME	R-HSA-187706
Prolonged ERK activation events	REACTOME	R-HSA-169893
Frs2-mediated activation	REACTOME	R-HSA-170968
ARMS-mediated activation	REACTOME	R-HSA-170984
Signaling by PDGF	REACTOME	R-HSA-186797
Downstream signal transduction	REACTOME	R-HSA-186763
Signaling by VEGF	REACTOME	R-HSA-194138
VEGFA-VEGFR2 Pathway	REACTOME	R-HSA-4420097
VEGFR2 mediated cell proliferation	REACTOME	R-HSA-5218921
Signaling by SCF-KIT	REACTOME	R-HSA-1433557
MAPK family signaling cascades	REACTOME	R-HSA-5683057
MAPK1/MAPK3 signaling	REACTOME	R-HSA-5684996
Signaling by GPCR	REACTOME	R-HSA-372790
Gastrin-CREB signalling pathway via PKC and MAPK	REACTOME	R-HSA-881907
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)	REACTOME	R-HSA-2404192
IGF1R signaling cascade	REACTOME	R-HSA-2428924
IRS-related events triggered by IGF1R	REACTOME	R-HSA-2428928
Signaling by Leptin	REACTOME	R-HSA-2586552
Extracellular matrix organization	REACTOME	R-HSA-1474244
ECM proteoglycans	REACTOME	R-HSA-3000178
Developmental Biology	REACTOME	R-HSA-1266738
Axon guidance	REACTOME	R-HSA-422475
NCAM signaling for neurite out-growth	REACTOME	R-HSA-375165
NCAM1 interactions	REACTOME	R-HSA-419037
L1CAM interactions	REACTOME	R-HSA-373760
Signal transduction by L1	REACTOME	R-HSA-445144
RET signaling	REACTOME	R-HSA-8853659

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA10066	duloxetine	Chemical	ClinicalAnnotation	associated		PD	28696415
PA447321	Depressive Disorder, Major	Disease	ClinicalAnnotation	associated		PD	28696415

References

Pubmed ID	Year	Title	Citations
20733159	2010	CD57 defines a functionally distinct population of mature NK cells in the human CD56dimCD16+ NK-cell subset.	232
20696944	2010	Expression patterns of NKG2A, KIR, and CD57 define a process of CD56dim NK-cell differentiation uncoupled from NK-cell education.	224
16627685	2006	The phenotypes of pluripotent human hepatic progenitors.	101
19897577	2010	CD94 surface density identifies a functional intermediary between the CD56bright and CD56dim human NK-cell subsets.	93
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
17085484	2006	Haplotype spanning TTC12 and ANKK1, flanked by the DRD2 and NCAM1 loci, is strongly associated to nicotine dependence in two distinct American populations.	82
15528382	2004	CD56bright NK cells are enriched at inflammatory sites and can engage with monocytes in a reciprocal program of activation.	80
23365458	2013	Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset.	75
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
22384114	2012	Cytotoxicity of CD56(bright) NK cells towards autologous activated CD4+ T cells is mediated through NKG2D, LFA-1 and TRAIL and dampened via CD94/NKG2A.	62

Citation

Dessen P

NCAM1 (neural cell adhesion molecule 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/41503/ncam1