Human Gene CD48 (uc001fwn.4)
  Description: Homo sapiens CD48 molecule (CD48), transcript variant 1, mRNA.
RefSeq Summary (NM_001778): This gene encodes a member of the CD2 subfamily of immunoglobulin-like receptors which includes SLAM (signaling lymphocyte activation molecules) proteins. The encoded protein is found on the surface of lymphocytes and other immune cells, dendritic cells and endothelial cells, and participates in activation and differentiation pathways in these cells. The encoded protein does not have a transmembrane domain, however, but is held at the cell surface by a GPI anchor via a C-terminal domain which maybe cleaved to yield a soluble form of the receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011].
Transcript (Including UTRs)
   Position: hg19 chr1:160,648,536-160,681,641 Size: 33,106 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr1:160,648,842-160,681,553 Size: 32,712 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:160,648,536-160,681,641)mRNA (may differ from genome)Protein (243 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CD48_HUMAN
DESCRIPTION: RecName: Full=CD48 antigen; AltName: Full=B-lymphocyte activation marker BLAST-1; AltName: Full=BCM1 surface antigen; AltName: Full=Leukocyte antigen MEM-102; AltName: Full=TCT.1; AltName: CD_antigen=CD48; Flags: Precursor;
FUNCTION: Ligand for CD2. Might facilitate interaction between activated lymphocytes. Probably involved in regulating T-cell activation.
INTERACTION: Q9BZW8:CD244; NbExp=2; IntAct=EBI-714770, EBI-1580565;
SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor.
SIMILARITY: Contains 1 Ig-like C2-type (immunoglobulin-like) domain.
SIMILARITY: Contains 1 Ig-like V-type (immunoglobulin-like) domain.

-  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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CD48
CDC HuGE Published Literature: CD48

-  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: 255.57 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 399.30 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 -19.9088-0.226 Picture PostScript Text
3' UTR -61.20306-0.200 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
IPR007110 - Ig-like
IPR013783 - Ig-like_fold
IPR003599 - Ig_sub
IPR013106 - Ig_V-set
IPR015631 - SLAM_fam_rcpts

Pfam Domains:
PF07686 - Immunoglobulin V-set domain
PF13895 - Immunoglobulin domain

SCOP Domains:
48726 - Immunoglobulin

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2EDO - NMR MuPIT


ModBase Predicted Comparative 3D Structure on P09326
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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 orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003823 antigen binding
GO:0005515 protein binding
GO:0038023 signaling receptor activity

Biological Process:
GO:0002819 regulation of adaptive immune response
GO:0006952 defense response
GO:0007165 signal transduction
GO:0050900 leukocyte migration

Cellular Component:
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0031225 anchored component of membrane
GO:0045121 membrane raft
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  M37766 - Human MEM-102 glycoprotein mRNA, complete cds.
BC016182 - Homo sapiens CD48 molecule, mRNA (cDNA clone MGC:22996 IMAGE:4850933), complete cds.
M59904 - Human pan-leukocyte antigen (CD48) mRNA, complete cds.
X06341 - Human mRNA for lymphocte activation marker Blast-1.
JD199102 - Sequence 180126 from Patent EP1572962.
KJ890866 - Synthetic construct Homo sapiens clone ccsbBroadEn_00260 CD48 gene, encodes complete protein.
BT019813 - Homo sapiens CD48 antigen (B-cell membrane protein) mRNA, complete cds.
DQ896316 - Synthetic construct Homo sapiens clone IMAGE:100010776; FLH193218.01L; RZPDo839D1268D CD48 molecule (CD48) gene, encodes complete protein.
EU176422 - Synthetic construct Homo sapiens clone IMAGE:100006500; FLH193222.01X; RZPDo839D1278D CD48 molecule (CD48) gene, encodes complete protein.
AB590257 - Synthetic construct DNA, clone: pFN21AE1514, Homo sapiens CD48 gene for CD48 molecule, without stop codon, in Flexi system.
CR457012 - Homo sapiens full open reading frame cDNA clone RZPDo834G095D for gene CD48, CD48 antigen (B-cell membrane protein); complete cds, incl. stopcodon.
AK225636 - Homo sapiens mRNA for CD48 antigen variant, clone: SPL08742.
AK310624 - Homo sapiens cDNA, FLJ17666.
AK310744 - Homo sapiens cDNA, FLJ17786.
BC030224 - Homo sapiens CD48 molecule, mRNA (cDNA clone MGC:34616 IMAGE:5223308), complete cds.
CU688852 - Synthetic construct Homo sapiens gateway clone IMAGE:100018141 5' read CD48 mRNA.
KJ901325 - Synthetic construct Homo sapiens clone ccsbBroadEn_10719 CD48 gene, encodes complete protein.
JD234420 - Sequence 215444 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04650 - Natural killer cell mediated cytotoxicity

Reactome (by CSHL, EBI, and GO)

Protein P09326 (Reactome details) participates in the following event(s):

R-HSA-202722 CD48 binds CD244
R-HSA-202733 Cell surface interactions at the vascular wall
R-HSA-109582 Hemostasis

-  Other Names for This Gene
  Alternate Gene Symbols: BCM1, BLAST1, CD48_HUMAN, NM_001778, NP_001769, P09326, Q5U055, uc001fwn.3
UCSC ID: uc001fwn.4
RefSeq Accession: NM_001778
Protein: P09326 (aka CD48_HUMAN)
CCDS: CCDS1208.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001778.3
exon count: 4CDS single in 3' UTR: no RNA size: 1155
ORF size: 732CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1605.00frame shift in genome: no % Coverage: 97.49
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.