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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
Location 1p13.3
Location_base_pair Starts at 111217245 and ends at 111244081 bp from pter ( according to hg18-Mar_2006)  [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
Entrez_Gene (NCBI)CD53  963  CD53 molecule
Cards
AtlasCD53ID983ch1p13
GeneCards (Weizmann)CD53
Ensembl (Hinxton)ENSG00000143119 [Gene_View]  CD53 [Vega]
AceView (NCBI)CD53
Genatlas (Paris)CD53
euGene (Indiana)963
SOURCE (Stanford)NM_000560 NM_001040033
Gene Expression (Array Express) ENSG00000143119
Genomic and cartography
GoldenPath (UCSC)CD53  -  1p13.3   chr1:111217245-111244081 +  1p13   [Description]    (hg18-Mar_2006)
EnsemblCD53 - 1p13 [CytoView]
Mapping of homologs : NCBICD53 [Mapview]
OMIM151525   
Gene and transcription
Gene : Genbank (Entrez)AK298723 AK313582 BC035456 BC040693 BG536920
Reference sequence (RefSeq transcript) :SRSNM_000560 NM_001040033
Reference transcript : EntrezNM_000560 NM_001040033
RefSeq genomic : SRSAC_000044 AC_000133 NC_000001 NT_032977 NW_001838594 NW_922462
RefSeq genomic : EntrezAC_000044 AC_000133 NC_000001 NT_032977 NW_001838594 NW_922462
Consensus coding sequences : CCDS NCBICD53
Cluster EST : UnigeneHs.443057 [ SRS ] Hs.443057 [ NCBI ]
Alternative Splicing : Fast-db (Paris)17030
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtP19397 (SRS) P19397 (Expasy) P19397 (Uniprot)
With graphics : InterProP19397
Splice isoforms : VarSplice FASTAP19397(VarSplice FASTA)
Domaine pattern : Prosite (SRS)TM4_1 (PS00421)   
Domain pattern : Prosite (Expaxy)TM4_1 (PS00421)   
Domains : Interpro (SRS)Tetraspanin    Tetraspanin_CS    Tetraspanin_EC2    Tetraspanin_sub   
Domains : Interpro (EBI)Tetraspanin    Tetraspanin_CS    Tetraspanin_EC2    Tetraspanin_sub   
Related proteins : CluSTrP19397
Domain families : Pfam SRSTetraspannin (PF00335)   
Domain families : Pfam SangerTetraspannin (PF00335)   
Domain families : Pfam NCBIpfam00335   
Blocks (Seattle)P19397
Crystal structure of protein : PDB SRS
Crystal structure of protein : PDBSum
Crystal structure of protein : IMB
Crystal structure of protein : PDB RSDB
HPRD01054
Protein Interaction databases
DIP (DOE-UCLA)P19397
IntAct (EBI)P19397
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBICD53
SNP : GeneSNP UtahCD53
SNP : HGBaseCD53
Genetic variants : HAPMAPCD53
Somatic Mutations in Cancer : COSMICCD53 
Mutations and Diseases : HGMDCD53
Hereditary diseases : OMIM151525   
Hereditary diseases : GENETests151525   
Diseases : Genetic AssociationCD53
General knowledge
Homologs : HomoloGeneCD53
Homology/Alignments : Family Browser UCSCCD53
Phylogenetic Trees/Animal Genes : TreeFamCD53
Chemical/Protein Interactions : CTD963
Keywords Ontology : AmiGOplasma membrane  signal transduction  cell surface  integral to membrane  
Keywords Ontology : EGO-EBIplasma membrane  signal transduction  cell surface  integral to membrane  
Pathways : BIOCARTA
Pathways : KEGG
Other databases
Probes
Probes : ImagenesCD53 Related clones (RZPD - Berlin)
Literature
PubMed33 Pubmed reference(s) in Entrez
PubGeneCD53

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.
Kornek V, Horejs 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.
Szllsi J, Horejs V, Bene L, Angelisov 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, Fontn 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, Mnzing 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.
Hernndez-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, Lpez A, Daz-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, Lpez A, Fernndez-Mosteirn 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.
Mnsson R, Lagergren A, Hansson F, Smith E, Sigvardsson M
European journal of immunology. 2007 ; 37 (5) : 1365-1376.
PMID 17429843
 
REVIEW articlesautomatic search in PubMed
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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. December 2007 .
URL : http://AtlasGeneticsOncology.org/Genes/CD53ID983ch1p13.html

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indexed on : Sat Feb 6 13:40:31 CET 2010

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