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Aliases for NCAM1 Gene

Aliases for NCAM1 Gene

  • Neural Cell Adhesion Molecule 1 2 3 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 Rabies and Blastic Plasmacytoid Dendritic Cell. Among its related pathways are RET signaling and Cytokine Signaling in Immune system. Gene Ontology (GO) annotations related to this gene include identical protein binding. An important paralog of this gene is NCAM2.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies 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
GH11I112960 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 575.5 +1.4 1427 3.8 PKNOX1 SIN3A FEZF1 GLI4 ZNF2 GLIS2 ZNF213 ZNF143 KLF7 KLF13 NCAM1 LOC101928847 ENSG00000270179 NKAPD1 ZW10 TTC12 NCAM1-AS1
GH11I112881 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 18.8 -78.7 -78724 3 SP1 MXI1 PKNOX1 POLR2A SP2 RCOR1 CHD2 PIR45615 NCAM1 LOC101928847 RNU7-187P LOC105369498
GH11I112073 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.1 -887.0 -887003 2.3 PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B NKAPD1 PIH1D2 ALG9 PPP2R1B NCAM1 SDHD SIK2
GH11I113187 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.1 +229.8 229811 7.1 PKNOX1 ATF1 ZSCAN4 FEZF1 RCOR1 ATF7 RUNX3 CREM NR2F2 ZNF148 NCAM1-AS1 NCAM1 GC11P112980
GH11I113183 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 9.6 +223.3 223327 1.4 TFAP4 TFE3 JUN MAX USF2 CEBPB CEBPG EP300 RFX5 JUND NCAM1-AS1 NCAM1 GC11P112980
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NCAM1 on UCSC Golden Path with GeneCards custom track

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

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)

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.
    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, isoforms=2, 3, 4, 5, 6347, Asn423, Asn449, and isoforms=2, 3, 4, 5478

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:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with NCAM1: view

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

Function for NCAM1 Gene

Molecular function for NCAM1 Gene

GENATLAS Biochemistry:
cell adhesion molecule,neural,1,immunoglobulin superfamily
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.

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:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
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

Clone 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
endoplasmic reticulum 1
lysosome 1

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

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

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

No data available for SIGNOR curated interactions for NCAM1 Gene

Drugs & Compounds for NCAM1 Gene

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

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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Ac2-26
151988-33-9
Heparin sodium salt
9041-08-1

(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

Drug Products

Transcripts for NCAM1 Gene

Unigene Clusters for NCAM1 Gene

Neural cell adhesion molecule 1:
Representative Sequences:

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, PaxDb, 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(2.5)
  • 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 34 33
  • 99.51 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NCAM1 34 33
  • 92.42 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NCAM1 34 33
  • 91.72 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ncam1 16 34 33
  • 89.27 (n)
rat
(Rattus norvegicus)
Mammalia Ncam1 33
  • 89.19 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 81 (a)
OneToMany
-- 34
  • 80 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia NCAM1 34
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves NCAM1 33 34
  • 81.84 (n)
lizard
(Anolis carolinensis)
Reptilia NCAM1 34
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ncam1 33
  • 70.66 (n)
African clawed frog
(Xenopus laevis)
Amphibia NCAM 33
zebrafish
(Danio rerio)
Actinopterygii ncam1a 33 34
  • 68.35 (n)
ncam1b 34
  • 49 (a)
OneToMany
-- 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002802 33
  • 44.49 (n)
fruit fly
(Drosophila melanogaster)
Insecta Fas2 35 33 34
  • 43.13 (n)
CG15630 34
  • 21 (a)
ManyToMany
CG33543 34
  • 21 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ncam-1 33 34
  • 41.33 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)

Paralogs for NCAM1 Gene

Paralogs for NCAM1 Gene

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

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

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

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

Disorders for NCAM1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
rabies
  • lyssa
blastic plasmacytoid dendritic cell
  • blastic nk-cell lymphoma
hypoganglionosis
  • intestinal hypoganglionosis
neuroendocrine tumor
  • neuroendocrine neoplasm
plasma cell leukemia
  • pcl
- 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 22 58
  2. Genetic variation in NCAM1 contributes to left ventricular wall thickness in hypertensive families. (PMID: 21212386) Arnett DK … Kardia SL (Circulation research 2011) 3 44 58
  3. 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 44 58
  4. 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 44 58
  5. 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 44 58

Products for NCAM1 Gene

Sources for NCAM1 Gene

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