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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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NCAM1
neural cell adhesion molecule 1
Chromosome 11 · 11q23.2
NCBI Gene: 4684Ensembl: ENSG00000149294.18HGNC: HGNC:7656UniProt: A0A087WWD4
409PubMed Papers
20Diseases
2Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub GeneReceptor
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
Clinical Trials
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular matrixprotein bindingcytosolplasma membranesmoking initiationgastroesophageal reflux diseasemajor depressive disorderschizophrenia
✦AI Summary

NCAM1 (neural cell adhesion molecule 1) is a cell surface glycoprotein with multifaceted roles in neurological, immunological, and vascular biology. Primarily, NCAM1 functions as an adhesion molecule mediating cell-cell interactions essential for neural development and axon guidance 1. Beyond its classical adhesive role, NCAM1 serves as a receptor for viral pathogens; it acts as a rabies virus entry receptor that can be competitively blocked by PDIA3 to restrict viral infection 2. Mechanistically, NCAM1 promotes pathological processes through multiple signaling pathways. In cancer, Schwann cell-expressed NCAM1 drives perineural invasion by inducing cancer cell protrusions and promoting cell dispersion, with NCAM1-deficient mice showing decreased neural invasion 1. In pulmonary hypertension, NCAM1 enhances pulmonary artery smooth muscle cell proliferation and migration via ERK1/2 signaling, with elevated serum NCAM1 correlating with disease severity 3. Clinically, NCAM1 has significant diagnostic and prognostic value. It serves as a candidate biomarker for Charcot-Marie-Tooth disease, showing elevation across multiple CMT genotypes and correlating with neuropathy severity 4. Additionally, NCAM1 is recognized as a target antigen in membranous nephropathy, an autoimmune kidney disease causing nephrotic syndrome, with distinct pathological and therapeutic implications 56. NCAM1-positive extracellular vesicles are useful for isolating neuron-derived EVs in neurodegenerative disease research 78.

Sources cited
1
NCAM1 expressed by Schwann cells promotes cancer cell invasion and perineural invasion through direct contact-dependent mechanisms, and NCAM1-deficient mice show decreased neural invasion
PMID: 26999607
2
NCAM1 is identified as a target antigen in membranous nephropathy cases, which have specific clinical and pathologic findings with therapeutic implications
PMID: 37863839
3
NCAM1 is one of multiple target antigens identified in membranous nephropathy that can be detected in approximately 80% of cases, with distinctive clinical associations and prognostic findings
PMID: 40691733
4
NCAM1 is a candidate biomarker for Charcot-Marie-Tooth disease, elevated across multiple CMT genotypes and correlating with neuropathy severity as measured by CMTES score
PMID: 35148379
5
NCAM1 is a marker for neuron-derived extracellular vesicles, though ATP1A3 shows better enrichment of synaptic markers and diagnostic utility for Alzheimer's disease
PMID: 37713494
6
NCAM1 is identified as a neuron-specific extracellular vesicle protein marker in human neural cell types
PMID: 35029059
7
NCAM1 modulates pulmonary arterial smooth muscle cell proliferation and migration through ERK1/2 signaling pathway, with elevated serum NCAM1 in pulmonary hypertension patients and disease models
PMID: 39696429
8
NCAM1 serves as a rabies virus entry receptor that can be competitively blocked by PDIA3 protein to restrict viral infection
PMID: 39128851
Disease Associationsⓘ20
smoking initiationOpen Targets
0.51Moderate
gastroesophageal reflux diseaseOpen Targets
0.50Moderate
major depressive disorderOpen Targets
0.49Moderate
schizophreniaOpen Targets
0.47Moderate
Abdominal painOpen Targets
0.46Moderate
irritable bowel syndromeOpen Targets
0.46Moderate
post-traumatic stress disorderOpen Targets
0.46Moderate
mathematical abilityOpen Targets
0.44Moderate
Back painOpen Targets
0.44Moderate
Cannabis useOpen Targets
0.43Moderate
anorexia nervosaOpen Targets
0.43Moderate
depressive disorderOpen Targets
0.43Moderate
PainOpen Targets
0.42Moderate
risk-taking behaviourOpen Targets
0.42Moderate
mood disorderOpen Targets
0.42Moderate
hepatitis C virus infectionOpen Targets
0.41Moderate
musculoskeletal system diseaseOpen Targets
0.41Moderate
respiratory tract infectious disorderOpen Targets
0.40Moderate
intelligenceOpen Targets
0.40Weak
viral human hepatitis infectionOpen Targets
0.39Weak
Pathogenic Variants1
NM_181351.5(NCAM1):c.1923dup (p.Ile642fs)Pathogenic
See cases
★☆☆☆2021→ Residue 642
View on ClinVar ↗
Drug Targets2
LORVOTUZUMAB MERTANSINEPhase II
Neural cell adhesion molecule 1 binding agent
ONCOLYSIN SPhase II
Neural cell adhesion molecule 1 binding agent
nervous system cancer
Related Genes
CD8AProtein interaction100%RETProtein interaction100%IFNGProtein interaction99%SIGLEC9Protein interaction99%PRNPProtein interaction99%PTPRCProtein interaction98%
Tissue Expression6 tissues
Heart
100%
Brain
82%
Ovary
23%
Bone Marrow
1%
Liver
1%
Lung
1%
Gene Interaction Network
Click a node to explore
NCAM1CD8ARETIFNGSIGLEC9PRNPPTPRC
PROTEIN STRUCTURE
Preparing viewer…
PDB2HAZ · 1.70 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.22Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.14 [0.09–0.22]
RankingsWhere NCAM1 stands among ~20K protein-coding genes
  • #707of 20,598
    Most Researched409 · top 5%
  • #4,636of 5,498
    Most Pathogenic Variants1
  • #548of 17,882
    Most Constrained (LOEUF)0.22 · top 5%
Genes detectedNCAM1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Schwann cells induce cancer cell dispersion and invasion.
PMID: 26999607
J Clin Invest · 2016
1.00
2
Membranous nephropathy-diagnosis and identification of target antigens.
PMID: 37863839
Nephrol Dial Transplant · 2024
0.90
3
Antigens in membranous nephropathy: discovery and clinical implications.
PMID: 40691733
Nat Rev Nephrol · 2025
0.80
4
NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice.
PMID: 35148379
Brain · 2022
0.70
5
Human fetal kidney organoids model early human nephrogenesis and Notch-driven cell fate.
PMID: 40691416
EMBO J · 2025
0.64