Human Gene NCAM1 (ENST00000316851.12_12) from GENCODE V47lift37
  Description: neural cell adhesion molecule 1, transcript variant 2 (from RefSeq NM_181351.5)
Gencode Transcript: ENST00000316851.12_12
Gencode Gene: ENSG00000149294.18_20
Transcript (Including UTRs)
   Position: hg19 chr11:112,832,142-113,149,158 Size: 317,017 Total Exon Count: 22 Strand: +
Coding Region
   Position: hg19 chr11:112,832,334-113,146,109 Size: 313,776 Coding Exon Count: 22 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:112,832,142-113,149,158)mRNA (may differ from genome)Protein (857 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NCAM1_HUMAN
DESCRIPTION: RecName: Full=Neural cell adhesion molecule 1; Short=N-CAM-1; Short=NCAM-1; AltName: CD_antigen=CD56; Flags: Precursor;
FUNCTION: This protein is a cell adhesion molecule involved in neuron-neuron adhesion, neurite fasciculation, outgrowth of neurites, etc.
SUBCELLULAR LOCATION: Isoform 1: Cell membrane; Single-pass type I membrane protein.
SUBCELLULAR LOCATION: Isoform 2: Cell membrane; Single-pass type I membrane protein.
SUBCELLULAR LOCATION: Isoform 3: Cell membrane; Lipid-anchor, GPI- anchor.
SUBCELLULAR LOCATION: Isoform 4: Cell membrane; Lipid-anchor, GPI- anchor (Potential).
SUBCELLULAR LOCATION: Isoform 5: Secreted.
SUBCELLULAR LOCATION: Isoform 6: Secreted (Potential).
SIMILARITY: Contains 2 fibronectin type-III domains.
SIMILARITY: Contains 5 Ig-like C2-type (immunoglobulin-like) domains.
SEQUENCE CAUTION: Sequence=BAD92680.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
WEB RESOURCE: Name=Wikipedia; Note=NCAM entry; URL="http://en.wikipedia.org/wiki/NCAM";
WEB RESOURCE: Name=Functional Glycomics Gateway - Glycan Binding; Note=N-CAM 140; URL="http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Itlect_264";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NCAM1
Diseases sorted by gene-association score: rabies (26), blastic plasmacytoid dendritic cell (18), hypoganglionosis (18), neuroendocrine tumor (17), plasma cell leukemia (17), orbit lymphoma (15), ovarian serous adenofibroma (15), large cell neuroendocrine carcinoma (14), subcutaneous panniculitis-like t-cell lymphoma (13), gastric small cell carcinoma (12), t-cell large granular lymphocyte leukemia (12), pancreatic endocrine carcinoma (12), panniculitis (12), merkel cell carcinoma (12), small cell neuroendocrine carcinoma (12), ewing sarcoma (10), small cell carcinoma (10), crustacean allergy (10), solitary osseous plasmacytoma (10), ganglioneuroma (10), lung meningioma (10), fallopian tube carcinosarcoma (9), cutaneous ganglioneuroma (9), orbital cancer (9), ovarian serous cystadenofibroma (8), spinal muscular atrophy-2 (8), perineurioma (8), ovarian large-cell neuroendocrine carcinoma (8), rete testis adenoma (8), non-gestational ovarian choriocarcinoma (8), cd3zeta deficiency (8), myxopapillary ependymoma (8), lethal midline granuloma (8), multiple mucosal neuroma (8), multiple myeloma (7), transitional meningioma (7), large cell carcinoma (7), small cell cancer of the lung, somatic (7), choriocarcinoma of ovary (7), extrahepatic bile duct adenocarcinoma (7), supratentorial primitive neuroectodermal tumor (7), chronic nk-cell lymphocytosis (7), subependymoma (7), myositis (7), hypopyon (6), aleukemic leukemia cutis (6), renal adenoma (6), gallbladder small cell carcinoma (6), myeloid sarcoma (6), endometrial small cell carcinoma (6), pancreatic serous cystadenoma (6), lung cancer (6), cervix small cell carcinoma (6), epithelial predominant wilms' tumor (6), granulomatous myositis (6), mediastinal cancer (6), lung benign neoplasm (5), sex cord-gonadal stromal tumor (5), parasitic ichthyosporea infectious disease (5), rhinosporidiosis (5), colon carcinoma in situ (5), spermatocele (5), pediatric lymphoma (5), nephrogenic adenofibroma (5), primary pigmented nodular adrenocortical disease (5), monoclonal gammopathy of uncertain significance (5), cholangiocarcinoma, susceptibility to (5), conventional angiosarcoma (5), rhinoscleroma (5), plasma cell neoplasm (5), lung lymphoma (5), pericoronitis (4), angiomyoma (4), cervical clear cell adenocarcinoma (4), gastric squamous cell carcinoma (4), rete testis neoplasm (4), malignant mesenchymoma (4), cystadenofibroma (4), adrenal rest tumor (4), anterior scleritis (4), mixed ductal-endocrine carcinoma (4), malignant skin fibrous histiocytoma (4), malignant dermis tumor (4), bile duct carcinoma (2), hirschsprung disease 1 (2), neuroblastoma (1), leukemia, acute promyelocytic, somatic (1), wilms tumor susceptibility-5 (1), autonomic nervous system neoplasm (1), peripheral nervous system neoplasm (1), leukemia, acute myeloid (1), leber congenital amaurosis (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 36.35 RPKM in Brain - Hypothalamus
Total median expression: 692.33 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -54.60192-0.284 Picture PostScript Text
3' UTR -836.103049-0.274 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003961 - Fibronectin_type3
IPR007110 - Ig-like
IPR013783 - Ig-like_fold
IPR013098 - Ig_I-set
IPR003598 - Ig_sub2
IPR009138 - Neural_cell_adh

Pfam Domains:
PF00041 - Fibronectin type III domain
PF00047 - Immunoglobulin domain
PF07679 - Immunoglobulin I-set domain
PF13895 - Immunoglobulin domain
PF13927 - Immunoglobulin domain

SCOP Domains:
48726 - Immunoglobulin
49265 - Fibronectin type III
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
69322 - Tricorn protease domain 2
82171 - DPP6 N-terminal domain-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2E3V - X-ray MuPIT 2HAZ - X-ray MuPIT 2VKW - X-ray MuPIT 2VKX - X-ray MuPIT 3MTR - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P13591
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001618 virus receptor activity
GO:0005088 Ras guanyl-nucleotide exchange factor activity
GO:0042802 identical protein binding

Biological Process:
GO:0000165 MAPK cascade
GO:0007155 cell adhesion
GO:0007411 axon guidance
GO:0016032 viral process
GO:0046718 viral entry into host cell
GO:0060333 interferon-gamma-mediated signaling pathway

Cellular Component:
GO:0000139 Golgi membrane
GO:0005576 extracellular region
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0009897 external side of plasma membrane
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031012 extracellular matrix
GO:0031225 anchored component of membrane


-  Descriptions from all associated GenBank mRNAs
  LF208477 - JP 2014500723-A/15980: Polycomb-Associated Non-Coding RNAs.
AK314589 - Homo sapiens cDNA, FLJ95423.
AB209443 - Homo sapiens mRNA for Neural cell adhesion molecule 1, 120 kDa isoform precursor variant protein.
AF005070 - Homo sapiens neural cell adhesion molecule mRNA, partial cds.
S71824 - N-CAM=145 kda neural cell adhesion molecule [human, small cell lung cancer cell line OS2-R, mRNA, 2960 nt].
BC047244 - Homo sapiens neural cell adhesion molecule 1, mRNA (cDNA clone MGC:47611 IMAGE:5590188), complete cds.
BC029119 - Homo sapiens neural cell adhesion molecule 1, mRNA (cDNA clone IMAGE:5196993), complete cds.
X16841 - Human mRNA for a nontransmembrane isoform of N-CAM from skeletal muscle.
U63041 - Human neural cell adhesion molecule CD56 mRNA, complete cds.
AK292453 - Homo sapiens cDNA FLJ76949 complete cds, highly similar to Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 2, mRNA.
GQ129418 - Synthetic construct Homo sapiens clone HAIB:100068494; DKFZo004D1234 neural cell adhesion molecule 1 protein (NCAM1) gene, partial cds.
EU832805 - Synthetic construct Homo sapiens clone HAIB:100067834; DKFZo008D1233 neural cell adhesion molecule 1 protein (NCAM1) gene, encodes complete protein.
AK057509 - Homo sapiens cDNA FLJ32947 fis, clone TESTI2007951, highly similar to NEURAL CELL ADHESION MOLECULE, 140 KDA ISOFORM PRECURSOR.
BC014205 - Homo sapiens neural cell adhesion molecule 1, mRNA (cDNA clone IMAGE:4584893), partial cds.
AK303232 - Homo sapiens cDNA FLJ54771 complete cds, highly similar to Neural cell adhesion molecule 1, 120 kDa isoform precursor.
M17409 - Human neural cell adhesion molecule (N-CAM) mRNA, clone lambda-9.5, 3' end.
M22094 - Human neural cell adhesion molecule (N-CAM) secreted isoform mRNA, 3' end.
M17410 - Human neural cell adhesion molecule (N-CAM) mRNA, clone lambda-4.4, 3' end.
AK299865 - Homo sapiens cDNA FLJ52974 complete cds, highly similar to Neural cell adhesion molecule 1, 140 kDa isoform precursor.
MA444054 - JP 2018138019-A/15980: Polycomb-Associated Non-Coding RNAs.
LF212277 - JP 2014500723-A/19780: Polycomb-Associated Non-Coding RNAs.
JD290672 - Sequence 271696 from Patent EP1572962.
JD547727 - Sequence 528751 from Patent EP1572962.
JD285884 - Sequence 266908 from Patent EP1572962.
JD519388 - Sequence 500412 from Patent EP1572962.
MA447854 - JP 2018138019-A/19780: Polycomb-Associated Non-Coding RNAs.
LF376831 - JP 2014500723-A/184334: Polycomb-Associated Non-Coding RNAs.
X59400 - H.sapiens pi exon of neural cell adhesion molecule (NCAM).
S73101 - neural cell adhesion molecule {3'end of exon 7 - mini-exon VASE - 5'end of exon 8} [human, small-cell lung carcinoma, mRNA Partial, 69 nt].
LF376827 - JP 2014500723-A/184330: Polycomb-Associated Non-Coding RNAs.
LF376826 - JP 2014500723-A/184329: Polycomb-Associated Non-Coding RNAs.
MA612408 - JP 2018138019-A/184334: Polycomb-Associated Non-Coding RNAs.
MA612404 - JP 2018138019-A/184330: Polycomb-Associated Non-Coding RNAs.
MA612403 - JP 2018138019-A/184329: Polycomb-Associated Non-Coding RNAs.
X55322 - H.sapiens NCAM mRNA for neural cell adhesion molecule.
AK056258 - Homo sapiens cDNA FLJ31696 fis, clone NT2RI2005816, moderately similar to NEURAL CELL ADHESION MOLECULE, LARGE ISOFORM PRECURSOR.
AL832563 - Homo sapiens mRNA; cDNA DKFZp547H2418 (from clone DKFZp547H2418).
LF376810 - JP 2014500723-A/184313: Polycomb-Associated Non-Coding RNAs.
JD061906 - Sequence 42930 from Patent EP1572962.
JD090577 - Sequence 71601 from Patent EP1572962.
JD302488 - Sequence 283512 from Patent EP1572962.
LF376808 - JP 2014500723-A/184311: Polycomb-Associated Non-Coding RNAs.
LF376807 - JP 2014500723-A/184310: Polycomb-Associated Non-Coding RNAs.
LF376806 - JP 2014500723-A/184309: Polycomb-Associated Non-Coding RNAs.
LF376805 - JP 2014500723-A/184308: Polycomb-Associated Non-Coding RNAs.
LF376804 - JP 2014500723-A/184307: Polycomb-Associated Non-Coding RNAs.
AK054570 - Homo sapiens cDNA FLJ30008 fis, clone 3NB692000029.
JD504271 - Sequence 485295 from Patent EP1572962.
JD553377 - Sequence 534401 from Patent EP1572962.
JD269231 - Sequence 250255 from Patent EP1572962.
JD371570 - Sequence 352594 from Patent EP1572962.
JD242146 - Sequence 223170 from Patent EP1572962.
JD549005 - Sequence 530029 from Patent EP1572962.
JD395493 - Sequence 376517 from Patent EP1572962.
JD383193 - Sequence 364217 from Patent EP1572962.
JD107833 - Sequence 88857 from Patent EP1572962.
JD107834 - Sequence 88858 from Patent EP1572962.
JD154039 - Sequence 135063 from Patent EP1572962.
JD291083 - Sequence 272107 from Patent EP1572962.
JD040243 - Sequence 21267 from Patent EP1572962.
JD306555 - Sequence 287579 from Patent EP1572962.
LF376803 - JP 2014500723-A/184306: Polycomb-Associated Non-Coding RNAs.
JD524201 - Sequence 505225 from Patent EP1572962.
MA612387 - JP 2018138019-A/184313: Polycomb-Associated Non-Coding RNAs.
MA612385 - JP 2018138019-A/184311: Polycomb-Associated Non-Coding RNAs.
MA612384 - JP 2018138019-A/184310: Polycomb-Associated Non-Coding RNAs.
MA612383 - JP 2018138019-A/184309: Polycomb-Associated Non-Coding RNAs.
MA612382 - JP 2018138019-A/184308: Polycomb-Associated Non-Coding RNAs.
MA612381 - JP 2018138019-A/184307: Polycomb-Associated Non-Coding RNAs.
MA612380 - JP 2018138019-A/184306: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_PDZsPathway - Synaptic Proteins at the Synaptic Junction

Reactome (by CSHL, EBI, and GO)

Protein P13591 (Reactome details) participates in the following event(s):

R-HSA-374681 L1 and NCAM1 engaged in cis-interaction
R-HSA-375148 Interaction of NCAM1 with Neurocan
R-HSA-375149 Interaction of NCAM1 with GFRalpha-1
R-HSA-375151 Interaction of NCAM1 with collagens
R-HSA-375154 Interaction of NCAM1 with Major prion protein (PrP)
R-HSA-375155 Interaction of NCAM1 with agrin
R-HSA-375157 Interaction of NCAM1 with contactin-2
R-HSA-375160 NCAM1 binds to ATP
R-HSA-391872 NCAM1 cis-homophilic interaction
R-HSA-422454 Polysialylation of NCAM1
R-HSA-375161 NCAM1 trans-homophilic interaction
R-HSA-419033 NCAM1 binds FGFR-1
R-HSA-375144 Interaction of NCAM1:GFRalpha-1 with GDNF
R-HSA-2467659 AGRN binds NCAM1, PTPRS
R-HSA-391867 Fyn binds NCAM1
R-HSA-525833 NCAM1 interacts with T- and L-type VDCC
R-HSA-391868 Dephosphorylation of NCAM1 bound pFyn
R-HSA-391865 Recruitment of FAK to NCAM1:Fyn in lipid rafts
R-HSA-391871 Autophosphorylation of NCAM1 bound Fyn
R-HSA-391866 Phosphorylation of FAK by Src kinase
R-HSA-392051 Recruitment of Grb2 to pFAK:NCAM1
R-HSA-392053 SOS binds Grb2 bound to pFAK:NCAM1
R-HSA-392054 NCAM1:pFAK:Grb2:Sos-mediated nucleotide exchange of Ras
R-HSA-5672965 RAS GEFs promote RAS nucleotide exchange
R-HSA-445144 Signal transduction by L1
R-HSA-419037 NCAM1 interactions
R-HSA-375165 NCAM signaling for neurite out-growth
R-HSA-877300 Interferon gamma signaling
R-HSA-3000178 ECM proteoglycans
R-HSA-373760 L1CAM interactions
R-HSA-422475 Axon guidance
R-HSA-913531 Interferon Signaling
R-HSA-1474244 Extracellular matrix organization
R-HSA-1266738 Developmental Biology
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-168256 Immune System
R-HSA-5673001 RAF/MAP kinase cascade
R-HSA-5684996 MAPK1/MAPK3 signaling
R-HSA-5683057 MAPK family signaling cascades
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: A8K8T8, ENST00000316851.1, ENST00000316851.10, ENST00000316851.11, ENST00000316851.2, ENST00000316851.3, ENST00000316851.4, ENST00000316851.5, ENST00000316851.6, ENST00000316851.7, ENST00000316851.8, ENST00000316851.9, NCAM, NCAM1_HUMAN, NM_181351, P13591, P13592, P13593, Q05C58, Q15829, Q16180, Q16209, Q59FL7, Q86X47, Q96CJ3, uc317qco.1, uc317qco.2
UCSC ID: ENST00000316851.12_12
RefSeq Accession: NM_181351.5
Protein: P13591 (aka NCAM1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.