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CD53 (CD53 molecule)

Identity

Other namesTSPAN25
Tetraspanin-25
Tspan-25
tetraspanin-25
CD53 glycoprotein
CD53 tetraspan antigen
MOX44
HGNC (Hugo) CD53
LocusID (NCBI) 963
Location 1p13.3
Location_base_pair Starts at 111415722 and ends at 111442558 bp from pter ( according to hg19-Feb_2009)  [Mapping]
Local_order Telomere-KCNA3--Q8NHC3---CD53---C1orf103---TMEM77---CEPT1---DENND2D-Centromere
 
  Map of chromosomal region 1p13.3

DNA/RNA

 
  Exon-Intron structure of human CD53 gene.
Description Gene size: 26,77 Kbp; 8 exons.
Transcription Transcript length: 1,567 bps.

Protein

Note Size: 219 amino acids; 24341 Da; Four transmembrane domains.
Subcellular location: Plasma Membrane; endosomes.
 
  The CD53 protein has four transmembrane domains. Several residues are conserved and define the tetraspanin protein family. The protein is glycosylated (green) in its second extracellular loop. Internally the protein is palmitoylated (red lines). EC: extracellular.
Localisation Plasma membrane; endosomes; exoxomes.
Function Modifier of signal transduction.
Homology Member of the tetraspanin protein family.

Implicated in

Entity T-cell acute lymphoblastic leukemia
Cytogenetics t(1;22)(p13;q13)
 
Location of breakpoint in chromosome region 1p13.3 in a case of T-ALL with a t(1;22)(p13;q13). The CD53 gene is not structurally altered. It is not known if its level of expression is affected.
Abnormal Protein None
  

External links

Nomenclature
HGNC (Hugo)CD53   1686
Cards
AtlasCD53ID983ch1p13
Entrez_Gene (NCBI)CD53  963  CD53 molecule
GeneCards (Weizmann)CD53
Ensembl (Hinxton)ENSG00000143119 [Gene_View]  chr1:111415722-111442558 [Contig_View]  CD53 [Vega]
ICGC DataPortalENSG00000143119
cBioPortalCD53
AceView (NCBI)CD53
Genatlas (Paris)CD53
WikiGenes963
SOURCE (Princeton)NM_000560 NM_001040033
Genomic and cartography
GoldenPath (UCSC)CD53  -  1p13.3   chr1:111415722-111442558 +  1p13   [Description]    (hg19-Feb_2009)
EnsemblCD53 - 1p13 [CytoView]
Mapping of homologs : NCBICD53 [Mapview]
OMIM151525   
Gene and transcription
Genbank (Entrez)AK298723 AK313582 BC035456 BC040693 BG536920
RefSeq transcript (Entrez)NM_000560 NM_001040033
RefSeq genomic (Entrez)AC_000133 NC_000001 NC_018912 NT_032977 NW_001838594 NW_004929290
Consensus coding sequences : CCDS (NCBI)CD53
Cluster EST : UnigeneHs.443057 [ NCBI ]
CGAP (NCI)Hs.443057
Alternative Splicing : Fast-db (Paris)GSHG0000798
Alternative Splicing GalleryENSG00000143119
Gene ExpressionCD53 [ NCBI-GEO ]     CD53 [ SEEK ]   CD53 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP19397 (Uniprot)
NextProtP19397  [Medical]
With graphics : InterProP19397
Splice isoforms : SwissVarP19397 (Swissvar)
Domaine pattern : Prosite (Expaxy)TM4_1 (PS00421)   
Domains : Interpro (EBI)Tetraspanin [organisation]   Tetraspanin/Peripherin [organisation]   Tetraspanin_CS [organisation]   Tetraspanin_EC2 [organisation]  
Related proteins : CluSTrP19397
Domain families : Pfam (Sanger)Tetraspannin (PF00335)   
Domain families : Pfam (NCBI)pfam00335   
DMDM Disease mutations963
Blocks (Seattle)P19397
Human Protein AtlasENSG00000143119 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP19397
HPRD01054
IPIIPI00018307   IPI00909520   
Protein Interaction databases
DIP (DOE-UCLA)P19397
IntAct (EBI)P19397
FunCoupENSG00000143119
BioGRIDCD53
InParanoidP19397
Interologous Interaction database P19397
IntegromeDBCD53
STRING (EMBL)CD53
Ontologies - Pathways
Ontology : AmiGOimmunological synapse  protein binding  plasma membrane  cell-cell junction  signal transduction  cell surface  integral component of membrane  extracellular vesicular exosome  positive regulation of myoblast fusion  
Ontology : EGO-EBIimmunological synapse  protein binding  plasma membrane  cell-cell junction  signal transduction  cell surface  integral component of membrane  extracellular vesicular exosome  positive regulation of myoblast fusion  
Protein Interaction DatabaseCD53
Wikipedia pathwaysCD53
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)CD53
snp3D : Map Gene to Disease963
SNP (GeneSNP Utah)CD53
SNP : HGBaseCD53
Genetic variants : HAPMAPCD53
Exome VariantCD53
1000_GenomesCD53 
ICGC programENSG00000143119 
Somatic Mutations in Cancer : COSMICCD53 
CONAN: Copy Number AnalysisCD53 
Mutations and Diseases : HGMDCD53
Mutations and Diseases : intOGenCD53
Genomic VariantsCD53  CD53 [DGVbeta]
dbVarCD53
ClinVarCD53
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM151525   
MedgenCD53
GENETestsCD53
Disease Genetic AssociationCD53
Huge Navigator CD53 [HugePedia]  CD53 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneCD53
Homology/Alignments : Family Browser (UCSC)CD53
Phylogenetic Trees/Animal Genes : TreeFamCD53
Chemical/Protein Interactions : CTD963
Chemical/Pharm GKB GenePA26225
Clinical trialCD53
Cancer Resource (Charite)ENSG00000143119
Other databases
Probes
Litterature
PubMed39 Pubmed reference(s) in Entrez
CoreMineCD53
iHOPCD53
OncoSearchCD53

Bibliography

The human CD53 gene, coding for a four transmembrane domain protein, maps to chromosomal region 1p13.
Gonzalez ME, Pardo-Manuel de Villena F, Fernandez-Ruiz E, Rodriguez de Cordoba S, Lazo PA
Genomics. 1993 ; 18 (3) : 725-728.
PMID 8307585
 
Genomic structure of the human CD53 gene.
Korąānek V, Horejsąā V
Immunogenetics. 1993 ; 38 (4) : 272-279.
PMID 8319976
 
CD53, a protein with four membrane-spanning domains, mediates signal transduction in human monocytes and B cells.
Olweus J, Lund-Johansen F, Horejsi V
Journal of immunology (Baltimore, Md. : 1950). 1993 ; 151 (2) : 707-716.
PMID 8335905
 
Chromosomal localization of the Ox-44 (CD53) leukocyte antigen gene in man and rodents.
Taguchi T, Bellacosa A, Zhou JY, Gilbert DJ, Lazo PA, Copeland NG, Jenkins NA, Tsichlis PN, Testa JR
Cytogenetics and cell genetics. 1993 ; 64 (3-4) : 217-221.
PMID 8404042
 
HindIII RFLP in the human CD53 gene on 1p13.
Gallego MI, Varas F, Lazo PA
Human molecular genetics. 1994 ; 3 (9) : page 1711.
PMID 7833942
 
Cross-linking of CD53 promotes activation of resting human B lymphocytes.
Rasmussen AM, Blomhoff HK, Stokke T, Horejsi V, Smeland EB
Journal of immunology (Baltimore, Md. : 1950). 1994 ; 153 (11) : 4997-5007.
PMID 7963560
 
Transmembrane-4 superfamily proteins CD81 (TAPA-1), CD82, CD63, and CD53 specifically associated with integrin alpha 4 beta 1 (CD49d/CD29).
Mannion BA, Berditchevski F, Kraeft SK, Chen LB, Hemler ME
Journal of immunology (Baltimore, Md. : 1950). 1996 ; 157 (5) : 2039-2047.
PMID 8757325
 
Supramolecular complexes of MHC class I, MHC class II, CD20, and tetraspan molecules (CD53, CD81, and CD82) at the surface of a B cell line JY.
SząŹlląĄsi J, Horejsąā V, Bene L, Angelisovąį P, Damjanovich S
Journal of immunology (Baltimore, Md. : 1950). 1996 ; 157 (7) : 2939-2946.
PMID 8816400
 
Recurrent infectious diseases in human CD53 deficiency.
Mollinedo F, Fontąįn G, Barasoain I, Lazo PA
Clinical and diagnostic laboratory immunology. 1997 ; 4 (2) : 229-231.
PMID 9067662
 
Gamma-glutamyl transpeptidase, an ecto-enzyme regulator of intracellular redox potential, is a component of TM4 signal transduction complexes.
Nichols TC, Guthridge JM, Karp DR, Molina H, Fletcher DR, Holers VM
European journal of immunology. 1998 ; 28 (12) : 4123-4129.
PMID 9862348
 
Increased expression of the tetraspanins CD53 and CD63 on apoptotic human neutrophils.
Beinert T, Mąļnzing S, Possinger K, Krombach F
Journal of leukocyte biology. 2000 ; 67 (3) : 369-373.
PMID 10733097
 
Differential cooperation between regulatory sequences required for human CD53 gene expression.
Hernąįndez-Torres J, Yunta M, Lazo PA
The Journal of biological chemistry. 2001 ; 276 (38) : 35405-35413.
PMID 11443129
 
Tetraspanin proteins mediate cellular penetration, invasion, and fusion events and define a novel type of membrane microdomain.
Hemler ME
Annual review of cell and developmental biology. 2003 ; 19 : 397-422.
PMID 14570575
 
Gene expression patterns in renal cell carcinoma assessed by complementary DNA microarray.
Higgins JP, Shinghal R, Gill H, Reese JH, Terris M, Cohen RJ, Fero M, Pollack JR, van de Rijn M, Brooks JD
The American journal of pathology. 2003 ; 162 (3) : 925-932.
PMID 12598325
 
Apoptosis protection and survival signal by the CD53 tetraspanin antigen.
Yunta M, Lazo PA
Oncogene. 2003 ; 22 (8) : 1219-1224.
PMID 12606948
 
Discrimination of biclonal B-cell chronic lymphoproliferative neoplasias by tetraspanin antigen expression.
Barrena S, Almeida J, Yunta M, LąĄpez A, Dąāaz-Mediavilla J, Orfao A, Lazo PA
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2005 ; 19 (9) : 1708-1709.
PMID 15973446
 
Aberrant expression of tetraspanin molecules in B-cell chronic lymphoproliferative disorders and its correlation with normal B-cell maturation.
Barrena S, Almeida J, Yunta M, LąĄpez A, Fernąįndez-Mosteirąān N, Giralt M, Romero M, Perdiguer L, Delgado M, Orfao A, Lazo PA
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2005 ; 19 (8) : 1376-1383.
PMID 15931266
 
Tetraspanin functions and associated microdomains.
Hemler ME
Nature reviews. Molecular cell biology. 2005 ; 6 (10) : 801-811.
PMID 16314869
 
Gene expression profiling reveals molecularly and clinically distinct subtypes of glioblastoma multiforme.
Liang Y, Diehn M, Watson N, Bollen AW, Aldape KD, Nicholas MK, Lamborn KR, Berger MS, Botstein D, Brown PO, Israel MA
Proceedings of the National Academy of Sciences of the United States of America. 2005 ; 102 (16) : 5814-5819.
PMID 15827123
 
Determination of stromal signatures in breast carcinoma.
West RB, Nuyten DS, Subramanian S, Nielsen TO, Corless CL, Rubin BP, Montgomery K, Zhu S, Patel R, Hernandez-Boussard T, Goldblum JR, Brown PO, van de Vijver M, van de Rijn M
PLoS biology. 2005 ; 3 (6) : page e187.
PMID 15869330
 
Interleukin-2 receptor beta chain locus rearrangement in a T-cell acute lymphoblastic leukemia.
Berger R, Bernard OA
Pathologie-biologie. 2007 ; 55 (1) : 56-58.
PMID 16697123
 
Functional implications of tetraspanin proteins in cancer biology.
Lazo PA
Cancer science. 2007 ; 98 (11) : 1666-1677.
PMID 17727684
 
The CD53 and CEACAM-1 genes are genetic targets for early B cell factor.
MąÄnsson R, Lagergren A, Hansson F, Smith E, Sigvardsson M
European journal of immunology. 2007 ; 37 (5) : 1365-1376.
PMID 17429843
 
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Contributor(s)

Written12-2007Pedro A Lazo
Instituto de Biologia Molecular y Celular del Cancer, CSIC-Universidad de Salamanca, campus Miguel de Unamuno, E-37007 Salamanca, Spain

Citation

This paper should be referenced as such :
Lazo, PA
CD53 (CD53 molecule)
Atlas Genet Cytogenet Oncol Haematol. 2008;12(4):303-305.
Free online version   Free pdf version   [Bibliographic record ]
URL : http://AtlasGeneticsOncology.org/Genes/CD53ID983ch1p13.html

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indexed on : Tue Sep 23 19:07:03 CEST 2014

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