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 dendr... See more...

Aliases for NCAM1 Gene

Aliases for NCAM1 Gene

  • Neural Cell Adhesion Molecule 1 2 3 4 5
  • NCAM 3 4
  • Antigen Recognized By Monoclonal Antibody 5.1H11 3
  • Neural Cell Adhesion Molecule, NCAM 3
  • CD56 Antigen 4
  • N-CAM-1 4
  • NCAM-1 4
  • MSK39 3
  • CD56 3

External Ids for NCAM1 Gene

Previous GeneCards Identifiers for NCAM1 Gene

  • GC11P115185
  • GC11P114344
  • GC11P112866
  • GC11P112369
  • GC11P112337
  • GC11P112831
  • GC11P108759

Summaries for NCAM1 Gene

Entrez Gene Summary for NCAM1 Gene

  • 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]

GeneCards Summary for NCAM1 Gene

NCAM1 (Neural Cell Adhesion Molecule 1) is a Protein Coding gene. Diseases associated with NCAM1 include Bile Duct Cancer and Rabies. Among its related pathways are NCAM1 interactions and RET signaling. Gene Ontology (GO) annotations related to this gene include identical protein binding. An important paralog of this gene is NCAM2.

UniProtKB/Swiss-Prot Summary for NCAM1 Gene

  • This protein is a cell adhesion molecule involved in neuron-neuron adhesion, neurite fasciculation, outgrowth of neurites, etc.
  • (Microbial infection) Acts as a receptor for rabies virus.

Tocris Summary for NCAM1 Gene

  • Cell adhesion molecules (CAMs) are a large family of transmembrane proteins that are involved in the binding of a cell to another cell or to the extracellular matrix. They have roles in cell proliferation, differentiation, motility, trafficking, apoptosis and tissue architecture.

Gene Wiki entry for NCAM1 Gene

Additional gene information for NCAM1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NCAM1 Gene

Genomics for NCAM1 Gene

GeneHancer (GH) Regulatory Elements for NCAM1 Gene

Promoters and enhancers for NCAM1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J112960 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 767.1 +1.6 1632 4.2 ZNF785 ZBTB6 CTBP1 ZNF362 MYC MAX SP1 SP7 ZSCAN21 PRDM1 NCAM1 LOC101928847 ENSG00000255129
GH11J112881 Promoter/Enhancer 1.2 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 18.8 -78.7 -78724 3 NFYC SP1 POLR2A SP2 PKNOX1 RCOR1 piR-51616 NCAM1 LOC101928847 RNU7-187P HSALNG0087225
GH11J113183 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 15.1 +222.5 222454 3.4 TFE3 CEBPG CEBPA CEBPB ATF7 JUN JUND MAX EP300 RFX5 NCAM1 NCAM1-AS1 HSALNG0087231
GH11J113187 Enhancer 1.6 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.1 +229.6 229554 8.4 SMARCE1 L3MBTL2 ZNF148 MAFK BACH1 SMARCA4 PRDM1 IKZF1 DPF2 CREB1 NCAM1-AS1 NCAM1 HSALNG0087231
GH11J112756 Enhancer 0.6 Ensembl ENCODE dbSUPER 17.8 -203.6 -203628 1.3 ATF2 NCAM1 lnc-PLET1-5 lnc-PLET1-6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NCAM1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NCAM1 gene promoter:
  • AML1a

Genomic Locations for NCAM1 Gene

Genomic Locations for NCAM1 Gene
chr11:112,961,247-113,278,436
(GRCh38/hg38)
Size:
317,190 bases
Orientation:
Plus strand
chr11:112,831,969-113,149,158
(GRCh37/hg19)
Size:
317,190 bases
Orientation:
Plus strand

Genomic View for NCAM1 Gene

Genes around NCAM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NCAM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NCAM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NCAM1 Gene

Proteins for NCAM1 Gene

  • Protein details for NCAM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P13591-NCAM1_HUMAN
    Recommended name:
    Neural cell adhesion molecule 1
    Protein Accession:
    P13591
    Secondary Accessions:
    • A8K8T8
    • P13592
    • P13593
    • Q05C58
    • Q15829
    • Q16180
    • Q16209
    • Q59FL7
    • Q86X47
    • Q96CJ3

    Protein attributes for NCAM1 Gene

    Size:
    858 amino acids
    Molecular mass:
    94574 Da
    Quaternary structure:
    • (Microbial infection) Interacts with rabies virus glycoprotein.
    • Interacts with MDK.
    SequenceCaution:
    • Sequence=BAD92680.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NCAM1 Gene

    Alternative splice isoforms for NCAM1 Gene

neXtProt entry for NCAM1 Gene

Post-translational modifications for NCAM1 Gene

  • Glycosylation at Thr125, Asn222, Asn315, Asn347, Asn433, Asn459, and Asn488
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • NCAM1_HUMAN (1545)

Antibody Products

No data available for DME Specific Peptides for NCAM1 Gene

Domains & Families for NCAM1 Gene

Gene Families for NCAM1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • CD markers
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for NCAM1 Gene

GenScript: Design optimal peptide antigens:
  • Neural cell adhesion molecule 1 (NCAM1_HUMAN)
genes like me logo Genes that share domains with NCAM1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for NCAM1 Gene

Function for NCAM1 Gene

Molecular function for NCAM1 Gene

UniProtKB/Swiss-Prot Function:
This protein is a cell adhesion molecule involved in neuron-neuron adhesion, neurite fasciculation, outgrowth of neurites, etc.
UniProtKB/Swiss-Prot Function:
(Microbial infection) Acts as a receptor for rabies virus.
GENATLAS Biochemistry:
cell adhesion molecule,neural,1,immunoglobulin superfamily

Phenotypes From GWAS Catalog for NCAM1 Gene

Gene Ontology (GO) - Molecular Function for NCAM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001618 virus receptor activity IEA --
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with NCAM1: view
genes like me logo Genes that share phenotypes with NCAM1: view

Animal Models for NCAM1 Gene

MGI Knock Outs for NCAM1:

Animal Model Products

CRISPR Products

Clone Products

Cell Line Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NCAM1 Gene

Localization for NCAM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NCAM1 Gene

Isoform 1: Cell membrane; Single-pass type I membrane protein.
Isoform 2: Cell membrane; Single-pass type I membrane protein.
Isoform 3: Cell membrane; Lipid-anchor, GPI-anchor.
Isoform 4: Cell membrane; Lipid-anchor, GPI-anchor.
Isoform 5: Secreted.
Isoform 6: Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NCAM1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 5
golgi apparatus 4
cytoskeleton 3
nucleus 2
mitochondrion 1
peroxisome 1
lysosome 1
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Plasma membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NCAM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005576 extracellular region IEA --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IDA,TAS --
GO:0009897 external side of plasma membrane IDA 17213291
genes like me logo Genes that share ontologies with NCAM1: view

Pathways & Interactions for NCAM1 Gene

PathCards logo

SuperPathways for NCAM1 Gene

SuperPathway Contained pathways
1 RET signaling
2 Developmental Biology
3 Cytokine Signaling in Immune system
4 Innate Immune System
5 Interferon gamma signaling
genes like me logo Genes that share pathways with NCAM1: view

SIGNOR curated interactions for NCAM1 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for NCAM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0007155 cell adhesion IEA --
GO:0007411 axon guidance TAS --
GO:0016032 viral process IEA --
GO:0046718 viral entry into host cell IEA --
genes like me logo Genes that share ontologies with NCAM1: view

Drugs & Compounds for NCAM1 Gene

(35) Drugs for NCAM1 Gene - From: PharmGKB, ApexBio, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
duloxetine Approved Pharma Antagonist 0
Thiolutin Pharma RNA polymerase inhibitor,antibiotic 0
LORVOTUZUMAB Pharma 0

(30) Additional Compounds for NCAM1 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Ac2-12
256447-08-2
Ac2-26
151988-33-9
Heparin sodium salt
9041-08-1
KF 38789
257292-29-8
PM 102
1234564-95-4

(5) Tocris Compounds for NCAM1 Gene

Compound Action Cas Number
Ac2-12 Annexin/lipocortin 1-mimetic; inhibits leukocyte extravasation 256447-08-2
Ac2-26 Annexin/lipocortin 1-mimetic; inhibits leukocyte extravasation 151988-33-9
Heparin sodium salt Anticoagulant 9041-08-1
KF 38789 Selective inhibitor of P-selectin-mediated cell adhesion 257292-29-8
PM 102 Antagonist of heparin (Cat. No. 2812) 1234564-95-4

(1) ApexBio Compounds for NCAM1 Gene

Compound Action Cas Number
Thiolutin RNA polymerase inhibitor,antibiotic 1987-11-6
genes like me logo Genes that share compounds with NCAM1: view

Transcripts for NCAM1 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NCAM1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b ^ 18 ^ 19 ^ 20
SP1: - - - - -
SP2: - -
SP3:
SP4:
SP5:

Relevant External Links for NCAM1 Gene

GeneLoc Exon Structure for
NCAM1
ECgene alternative splicing isoforms for
NCAM1

Expression for NCAM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NCAM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NCAM1 Gene

This gene is overexpressed in Fetal Brain (17.6), Frontal cortex (11.4), Retina (11.0), and Brain (10.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NCAM1 Gene



Protein tissue co-expression partners for NCAM1 Gene

NURSA nuclear receptor signaling pathways regulating expression of NCAM1 Gene:

NCAM1

SOURCE GeneReport for Unigene cluster for NCAM1 Gene:

Hs.503878

Evidence on tissue expression from TISSUES for NCAM1 Gene

  • Nervous system(5)
  • Bone marrow(4.6)
  • Muscle(4.6)
  • Liver(4.5)
  • Kidney(4.4)
  • Blood(3.7)
  • Lung(2.9)
  • Eye(2.8)
  • Heart(2.8)
  • Lymph node(2.7)
  • Spleen(2.7)
  • Adrenal gland(2.6)
  • Thyroid gland(2.6)
  • Intestine(2.4)
  • Skin(2.4)
genes like me logo Genes that share expression patterns with NCAM1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NCAM1 Gene

Orthologs for NCAM1 Gene

This gene was present in the common ancestor of animals.

Orthologs for NCAM1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NCAM1 33 32
  • 99.51 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NCAM1 33 32
  • 92.42 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NCAM1 33 32
  • 91.72 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ncam1 17 33 32
  • 89.27 (n)
rat
(Rattus norvegicus)
Mammalia Ncam1 32
  • 89.19 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 81 (a)
OneToMany
-- 33
  • 80 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia NCAM1 33
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves NCAM1 33 32
  • 81.84 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NCAM1 33
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ncam1 32
  • 70.66 (n)
African clawed frog
(Xenopus laevis)
Amphibia NCAM 32
zebrafish
(Danio rerio)
Actinopterygii ncam1a 33 32
  • 68.35 (n)
OneToMany
ncam1b 33
  • 49 (a)
OneToMany
-- 32
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002802 32
  • 44.49 (n)
fruit fly
(Drosophila melanogaster)
Insecta Fas2 33 34 32
  • 43.13 (n)
ManyToMany
CG33543 33
  • 21 (a)
ManyToMany
CG15630 33
  • 21 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ncam-1 33 32
  • 41.33 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 26 (a)
OneToMany
Species where no ortholog for NCAM1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NCAM1 Gene

ENSEMBL:
Gene Tree for NCAM1 (if available)
TreeFam:
Gene Tree for NCAM1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NCAM1: view image

Paralogs for NCAM1 Gene

(5) SIMAP similar genes for NCAM1 Gene using alignment to 7 proteins:

  • NCAM1_HUMAN
  • H7BYX6_HUMAN
  • L8EBH1_HUMAN
  • L8ECP3_HUMAN
  • R4GMN9_HUMAN
  • S4R389_HUMAN
  • S4R3Z6_HUMAN
genes like me logo Genes that share paralogs with NCAM1: view

Variants for NCAM1 Gene

Sequence variations from dbSNP and Humsavar for NCAM1 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000001757 -- 113,182,613(+) T/C intron_variant
rs1000017383 -- 113,270,147(+) T/A genic_downstream_transcript_variant, intron_variant
rs1000063052 -- 113,012,056(+) T/C intron_variant
rs1000087888 -- 113,194,179(+) T/G intron_variant
rs1000090738 -- 113,263,846(+) G/A 3_prime_UTR_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for NCAM1 Gene

Variant ID Type Subtype PubMed ID
dgv1279n100 CNV loss 25217958
esv24924 CNV loss 19812545
esv2664094 CNV deletion 23128226
esv2745085 CNV deletion 23290073
esv3548358 CNV deletion 23714750
esv3627771 CNV loss 21293372
esv3627772 CNV loss 21293372
esv3627773 CNV gain 21293372
esv3627774 CNV loss 21293372
esv3627775 CNV loss 21293372
nsv1038796 CNV gain 25217958
nsv468870 CNV loss 19166990
nsv483080 CNV loss 15286789
nsv515828 CNV loss 19592680
nsv516224 CNV loss 19592680
nsv526604 CNV loss 19592680
nsv556442 CNV loss 21841781
nsv556443 CNV loss 21841781
nsv832271 CNV gain 17160897
nsv832272 CNV gain 17160897
nsv951071 CNV duplication 24416366

Variation tolerance for NCAM1 Gene

Gene Damage Index Score: 7.28; 81.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NCAM1 Gene

Human Gene Mutation Database (HGMD)
NCAM1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NCAM1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NCAM1 Gene

Disorders for NCAM1 Gene

MalaCards: The human disease database

(100) MalaCards diseases for NCAM1 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
bile duct cancer
  • bile duct tumor
rabies
  • lyssa
hypoganglionosis
  • intestinal hypoganglionosis
plasma cell leukemia
  • pcl
large cell neuroendocrine carcinoma
- elite association - COSMIC cancer census association via MalaCards
Search NCAM1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NCAM1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NCAM1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NCAM1 Gene

Publications for NCAM1 Gene

  1. Molecular and functional analysis of human natural killer cell-associated neural cell adhesion molecule (N-CAM/CD56). (PMID: 1710251) Lanier LL … Phillips JH (Journal of immunology (Baltimore, Md. : 1950) 1991) 3 4 23 56
  2. Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease. (PMID: 21116278) Furney SJ … AddNeuroMed Consortium (Molecular psychiatry 2011) 3 43 56
  3. Genetic variation in NCAM1 contributes to left ventricular wall thickness in hypertensive families. (PMID: 21212386) Arnett DK … Kardia SL (Circulation research 2011) 3 43 56
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 43 56
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 43 56

Products for NCAM1 Gene