Human Gene MCAM (ENST00000264036.6_7) from GENCODE V47lift37
  Description: melanoma cell adhesion molecule (from RefSeq NM_006500.3)
Gencode Transcript: ENST00000264036.6_7
Gencode Gene: ENSG00000076706.17_11
Transcript (Including UTRs)
   Position: hg19 chr11:119,179,239-119,187,840 Size: 8,602 Total Exon Count: 16 Strand: -
Coding Region
   Position: hg19 chr11:119,180,596-119,187,811 Size: 7,216 Coding Exon Count: 16 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:119,179,239-119,187,840)mRNA (may differ from genome)Protein (646 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MUC18_HUMAN
DESCRIPTION: RecName: Full=Cell surface glycoprotein MUC18; AltName: Full=Cell surface glycoprotein P1H12; AltName: Full=Melanoma cell adhesion molecule; AltName: Full=Melanoma-associated antigen A32; AltName: Full=Melanoma-associated antigen MUC18; AltName: Full=S-endo 1 endothelial-associated antigen; AltName: CD_antigen=CD146; Flags: Precursor;
FUNCTION: Plays a role in cell adhesion, and in cohesion of the endothelial monolayer at intercellular junctions in vascular tissue. Its expression may allow melanoma cells to interact with cellular elements of the vascular system, thereby enhancing hematogeneous tumor spread. Could be an adhesion molecule active in neural crest cells during embryonic development. Acts as surface receptor that triggers tyrosine phosphorylation of FYN and PTK2/FAK1, and a transient increase in the intracellular calcium concentration.
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
TISSUE SPECIFICITY: Detected in endothelial cells in vascular tissue throughout the body. May appear at the surface of neural crest cells during their embryonic migration. Appears to be limited to vascular smooth muscle in normal adult tissues. Associated with tumor progression and the development of metastasis in human malignant melanoma. Expressed most strongly on metastatic lesions and advanced primary tumors and is only rarely detected in benign melanocytic nevi and thin primary melanomas with a low probability of metastasis.
SIMILARITY: Contains 3 Ig-like C2-type (immunoglobulin-like) domains.
SIMILARITY: Contains 2 Ig-like V-type (immunoglobulin-like) domains.
SEQUENCE CAUTION: Sequence=BAD93162.1; Type=Erroneous initiation;

-  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: MCAM
Diseases sorted by gene-association score: melanoma (14), skin melanoma (3), uterine sarcoma (2), prostate cancer (2), epithelioid cell melanoma (2), osteogenesis imperfecta, type iii (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  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: 491.79 RPKM in Artery - Tibial
Total median expression: 2489.44 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 -8.5029-0.293 Picture PostScript Text
3' UTR -486.201357-0.358 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
IPR013162 - CD80_C2-set
IPR007110 - Ig-like
IPR013783 - Ig-like_fold
IPR003599 - Ig_sub
IPR003598 - Ig_sub2
IPR013106 - Ig_V-set
IPR013151 - Immunoglobulin

Pfam Domains:
PF00047 - Immunoglobulin domain
PF07686 - Immunoglobulin V-set domain
PF08205 - CD80-like C2-set immunoglobulin domain
PF13895 - Immunoglobulin domain
PF13927 - Immunoglobulin domain

SCOP Domains:
48726 - Immunoglobulin

ModBase Predicted Comparative 3D Structure on P43121
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    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0001525 angiogenesis
GO:0003094 glomerular filtration
GO:0007155 cell adhesion
GO:0009653 anatomical structure morphogenesis
GO:0030335 positive regulation of cell migration
GO:0061042 vascular wound healing

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005886 plasma membrane
GO:0005925 focal adhesion
GO:0009897 external side of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  LF208446 - JP 2014500723-A/15949: Polycomb-Associated Non-Coding RNAs.
M28882 - Human MUC18 glycoprotein mRNA, complete cds.
AF089868 - Homo sapiens cell surface glycoprotein P1H12 precursor, mRNA, complete cds.
JD548499 - Sequence 529523 from Patent EP1572962.
JD216465 - Sequence 197489 from Patent EP1572962.
JD088102 - Sequence 69126 from Patent EP1572962.
JD145531 - Sequence 126555 from Patent EP1572962.
JD504249 - Sequence 485273 from Patent EP1572962.
JD042022 - Sequence 23046 from Patent EP1572962.
JD091164 - Sequence 72188 from Patent EP1572962.
JD401916 - Sequence 382940 from Patent EP1572962.
AK126303 - Homo sapiens cDNA FLJ44324 fis, clone TRACH3002168, highly similar to Cell surface glycoprotein MUC18 precursor.
M29277 - Human isolate JuSo MUC18 glycoprotein mRNA (3' variant), complete cds.
JD401914 - Sequence 382938 from Patent EP1572962.
JD116941 - Sequence 97965 from Patent EP1572962.
JD366340 - Sequence 347364 from Patent EP1572962.
JD138037 - Sequence 119061 from Patent EP1572962.
JD138036 - Sequence 119060 from Patent EP1572962.
JD443373 - Sequence 424397 from Patent EP1572962.
JD344668 - Sequence 325692 from Patent EP1572962.
JD073053 - Sequence 54077 from Patent EP1572962.
JD444787 - Sequence 425811 from Patent EP1572962.
JD440915 - Sequence 421939 from Patent EP1572962.
JD523831 - Sequence 504855 from Patent EP1572962.
JD145078 - Sequence 126102 from Patent EP1572962.
JD079530 - Sequence 60554 from Patent EP1572962.
JD131033 - Sequence 112057 from Patent EP1572962.
JD274818 - Sequence 255842 from Patent EP1572962.
JD232067 - Sequence 213091 from Patent EP1572962.
BC056418 - Homo sapiens melanoma cell adhesion molecule, mRNA (cDNA clone MGC:65073 IMAGE:6195486), complete cds.
AK128335 - Homo sapiens cDNA FLJ46477 fis, clone THYMU3025118, highly similar to Cell surface glycoprotein MUC18 precursor.
JD302126 - Sequence 283150 from Patent EP1572962.
JD428791 - Sequence 409815 from Patent EP1572962.
JD555975 - Sequence 536999 from Patent EP1572962.
JD475573 - Sequence 456597 from Patent EP1572962.
JD076277 - Sequence 57301 from Patent EP1572962.
JD381500 - Sequence 362524 from Patent EP1572962.
JD426477 - Sequence 407501 from Patent EP1572962.
JD193312 - Sequence 174336 from Patent EP1572962.
BC006329 - Homo sapiens melanoma cell adhesion molecule, mRNA (cDNA clone IMAGE:4298809), **** WARNING: chimeric clone ****.
JD111425 - Sequence 92449 from Patent EP1572962.
JD108348 - Sequence 89372 from Patent EP1572962.
JD141199 - Sequence 122223 from Patent EP1572962.
JD339192 - Sequence 320216 from Patent EP1572962.
AB209925 - Homo sapiens mRNA for Melanoma cell adhesion molecule variant protein.
JD097559 - Sequence 78583 from Patent EP1572962.
AK291571 - Homo sapiens cDNA FLJ78619 complete cds, highly similar to Homo sapiens melanoma cell adhesion molecule (MCAM), mRNA.
JD271438 - Sequence 252462 from Patent EP1572962.
JD519703 - Sequence 500727 from Patent EP1572962.
JD162943 - Sequence 143967 from Patent EP1572962.
JD368471 - Sequence 349495 from Patent EP1572962.
AK312430 - Homo sapiens cDNA, FLJ92775, highly similar to Homo sapiens melanoma cell adhesion molecule (MCAM), mRNA.
KJ897173 - Synthetic construct Homo sapiens clone ccsbBroadEn_06567 MCAM gene, encodes complete protein.
EU832794 - Synthetic construct Homo sapiens clone HAIB:100067823; DKFZo008D0133 melanoma cell adhesion molecule protein (MCAM) gene, encodes complete protein.
GQ129330 - Synthetic construct Homo sapiens clone HAIB:100068483; DKFZo004D0134 melanoma cell adhesion molecule protein (MCAM) gene, partial cds.
AB527309 - Synthetic construct DNA, clone: pF1KB5694, Homo sapiens MCAM gene for melanoma cell adhesion molecule, without stop codon, in Flexi system.
AJ297452 - Homo sapiens partial mRNA for melanoma adhesion molecule (MCAM gene), short cytoplasmic tail isoform.
LF376326 - JP 2014500723-A/183829: Polycomb-Associated Non-Coding RNAs.
LF376325 - JP 2014500723-A/183828: Polycomb-Associated Non-Coding RNAs.
LF376324 - JP 2014500723-A/183827: Polycomb-Associated Non-Coding RNAs.
LF376323 - JP 2014500723-A/183826: Polycomb-Associated Non-Coding RNAs.
LF376322 - JP 2014500723-A/183825: Polycomb-Associated Non-Coding RNAs.
LF376321 - JP 2014500723-A/183824: Polycomb-Associated Non-Coding RNAs.
LF376320 - JP 2014500723-A/183823: Polycomb-Associated Non-Coding RNAs.
LF212272 - JP 2014500723-A/19775: Polycomb-Associated Non-Coding RNAs.
LF376318 - JP 2014500723-A/183821: Polycomb-Associated Non-Coding RNAs.
MA444023 - JP 2018138019-A/15949: Polycomb-Associated Non-Coding RNAs.
MA611903 - JP 2018138019-A/183829: Polycomb-Associated Non-Coding RNAs.
MA611902 - JP 2018138019-A/183828: Polycomb-Associated Non-Coding RNAs.
MA611901 - JP 2018138019-A/183827: Polycomb-Associated Non-Coding RNAs.
MA611900 - JP 2018138019-A/183826: Polycomb-Associated Non-Coding RNAs.
MA611899 - JP 2018138019-A/183825: Polycomb-Associated Non-Coding RNAs.
MA611898 - JP 2018138019-A/183824: Polycomb-Associated Non-Coding RNAs.
MA611897 - JP 2018138019-A/183823: Polycomb-Associated Non-Coding RNAs.
MA447849 - JP 2018138019-A/19775: Polycomb-Associated Non-Coding RNAs.
MA611895 - JP 2018138019-A/183821: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000264036.1, ENST00000264036.2, ENST00000264036.3, ENST00000264036.4, ENST00000264036.5, MUC18, MUC18_HUMAN, NM_006500, O95812, P43121, Q59E86, Q6PHR3, Q6ZTR2, uc317hop.1, uc317hop.2
UCSC ID: ENST00000264036.6_7
RefSeq Accession: NM_006500.3
Protein: P43121 (aka MUC18_HUMAN or MU18_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.