Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CD53 (CD53 molecule)


Other namesMOX44
HGNC (Hugo) CD53
LocusID (NCBI) 963
Atlas_Id 983
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
Fusion genes
(updated 2015)
HLCS (21q22.13) / CD53 (1p13.3)


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


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

HGNC (Hugo)CD53   1686
Entrez_Gene (NCBI)CD53  963  CD53 molecule
GeneCards (Weizmann)CD53
Ensembl hg19 (Hinxton)ENSG00000143119 [Gene_View]  chr1:111415722-111442558 [Contig_View]  CD53 [Vega]
Ensembl hg38 (Hinxton)ENSG00000143119 [Gene_View]  chr1:111415722-111442558 [Contig_View]  CD53 [Vega]
ICGC DataPortalENSG00000143119
TCGA cBioPortalCD53
AceView (NCBI)CD53
Genatlas (Paris)CD53
SOURCE (Princeton)CD53
Genomic and cartography
GoldenPath hg19 (UCSC)CD53  -     chr1:111415722-111442558 +  1p13   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CD53  -     1p13   [Description]    (hg38-Dec_2013)
EnsemblCD53 - 1p13 [CytoView hg19]  CD53 - 1p13 [CytoView hg38]
Mapping of homologs : NCBICD53 [Mapview hg19]  CD53 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK298723 AK313582 BC035456 BC040693 BG536920
RefSeq transcript (Entrez)NM_000560 NM_001040033
RefSeq genomic (Entrez)NC_000001 NC_018912 NT_032977 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 ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP19397 (Uniprot)
NextProtP19397  [Medical]  [Publications]
With graphics : InterProP19397
Splice isoforms : SwissVarP19397 (Swissvar)
Domaine pattern : Prosite (Expaxy)TM4_1 (PS00421)   
Domains : Interpro (EBI)Tetraspanin    Tetraspanin/Peripherin    Tetraspanin_CS    Tetraspanin_EC2   
Related proteins : CluSTrP19397
Domain families : Pfam (Sanger)Tetraspannin (PF00335)   
Domain families : Pfam (NCBI)pfam00335   
DMDM Disease mutations963
Blocks (Seattle)P19397
Human Protein AtlasENSG00000143119
Peptide AtlasP19397
IPIIPI00018307   IPI00909520   
Protein Interaction databases
IntAct (EBI)P19397
Ontologies - Pathways
Ontology : AmiGOimmunological synapse  protein binding  plasma membrane  cell-cell junction  signal transduction  cell surface  integral component of membrane  extracellular 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 exosome  positive regulation of myoblast fusion  
Protein Interaction DatabaseCD53
Atlas of Cancer Signalling NetworkCD53
Wikipedia pathwaysCD53
Gene fusions - Rearrangements
Fusion : MitelmanHLCS/CD53 [21q22.13/1p13.3]  [t(1;21)(p13;q22)]  
Fusion: TCGAHLCS 21q22.13 CD53 1p13.3 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerCD53 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CD53
Exome Variant ServerCD53
SNP (GeneSNP Utah)CD53
SNP : HGBaseCD53
Genetic variants : HAPMAPCD53
Genomic Variants (DGV)CD53 [DGVbeta]
ICGC Data PortalCD53 
TCGA Data PortalCD53 
Tumor PortalCD53
Somatic Mutations in Cancer : COSMICCD53 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
DoCM (Curated mutations) CD53
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
DECIPHER (Syndromes)1:111415722-111442558
CONAN: Copy Number AnalysisCD53 
Mutations and Diseases : HGMDCD53
NextProtP19397 [Medical]
Disease Genetic AssociationCD53
Huge Navigator CD53 [HugePedia]  CD53 [HugeCancerGEM]
snp3D : Map Gene to Disease963
DGIdb (Drug Gene Interaction db)CD53
BioCentury BCIQCD53
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
PubMed42 Pubmed reference(s) in Entrez


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
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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


This paper should be referenced as such :
Lazo, PA
CD53 (CD53 molecule)
Atlas Genet Cytogenet Oncol Haematol. 2008;12(4):303-305.
Free journal version : [ pdf ]   [ DOI ]
On line version :

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indexed on : Mon Oct 5 12:48:09 CEST 2015

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