NRCAM Gene Summary [Human]

Cell adhesion molecules (CAMs) are members of the immunoglobulin superfamily. This gene encodes a neuronal cell adhesion molecule with multiple immunoglobulin-like C2-type domains and fibronectin type-III domains. This ankyrin-binding protein is involved in neuron-neuron adhesion and promotes directional signaling during axonal cone growth. This gene is also expressed in non-neural tissues and may play a general role in cell-cell communication via signaling from its intracellular domain to the actin cytoskeleton during directional cell migration. Allelic variants of this gene have been associated with autism and addiction vulnerability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Details

Type
Processed Transcript
Official Symbol
NRCAM
Official Name
neuronal cell adhesion molecule [Source:HGNC Symbol;Acc:HGNC:7994]
Ensembl ID
ENSG00000091129
Bio databases IDs NCBI: 4897 Ensembl: ENSG00000091129
Aliases neuronal cell adhesion molecule, NgCAM-related cell adhesion molecule
Synonyms Bravo, C030017F07Rik, C130076O07RIK, mKIAA0343, NEDNMS, neuronal cell adhesion molecule, NGCAM, NRCAM isoform 5
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NRCAM often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • extracellular domain
  • immunoglobulin domain
  • cell adhesion molecule binding
  • Purple acid Phosphatase, N-terminal domain
  • Immunoglobulin I-set domain
  • protein binding
  • Fibronectin type 3 domain
  • fibronectin III-like domain
  • ankyrin binding domain
  • ankyrin binding
  • FN3
  • Immunoglobulin like
  • PDZ binding motif
  • Bravo-like intracellular region
  • Immunoglobulin V-set domain

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • neurodevelopmental disorder with neuromuscular and skeletal abnormalities
  • pervasive developmental disorder
  • experimental autoimmune encephalomyelitis
  • multiple sclerosis
  • ataxia
  • hemangioma
  • angiomatosis
  • demyelination
  • small cell lung cancer
  • orofacial cleft
regulated by
regulates
role in cell
  • assembly
  • expression in
  • quantity
  • binding in
  • growth
  • formation
  • accumulation in
  • loss in
  • invasion
  • accumulation

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • glutaminergic synapse
  • axon component
  • cell surface
  • cellular membrane
  • vesicles
  • cell-cell contacts
  • postsynaptic membrane
  • synaptic membrane
  • nodes of Ranvier
  • dendritic spine head
  • axonal membrane
  • growth cone
  • axon initial segments
  • synapse
  • transport vesicles
  • gap junctions
  • retinal ganglion cell axon
  • membrane rafts
  • cellular protrusions
  • membrane processes
  • microvilli
  • filopodia
  • filopodial tip
  • perikaryon
  • axons

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human NRCAM gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • retinal ganglion cell axon guidance
  • protein localization
  • positive regulation of neuron differentiation
  • axon guidance
  • brain development
  • axonal fasciculation
  • clustering of voltage-gated sodium channels
  • neuron migration
  • synapse assembly
  • regulation of axon extension
  • central nervous system development
  • angiogenesis
  • axonogenesis
  • regulation of neuron projection development
  • heterotypic cell-cell adhesion
  • neuronal action potential propagation

Cellular Component

Where in the cell the gene product is active
  • initial segment
  • external side of plasma membrane
  • extracellular region
  • neuron projection
  • axon
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • ankyrin binding
  • protein binding involved in heterotypic cell-cell adhesion

Gene-Specific Assays for Results You Can Trust

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