CD53 (CD53 molecule)
2007-12-01 Pedro A Lazo AffiliationInstituto de Biologia Molecular y Celular del Cancer, CSIC-Universidad de Salamanca, campus Miguel de Unamuno, E-37007 Salamanca, Spain
Identity
HGNC
LOCATION
1p13.3
IMAGE
LEGEND
Map of chromosomal region 1p13.3
LOCUSID
ALIAS
MOX44,TSPAN25
FUSION GENES
DNA/RNA
Exon-Intron structure of human CD53 gene.
Description
Gene size: 26,77 Kbp; 8 exons.
Transcription
Transcript length: 1,567 bps.
Proteins
Note
Size: 219 amino acids; 24341 Da; Four transmembrane domains.
Subcellular location: Plasma Membrane; endosomes.
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 name
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.
Fusion protein
None
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 15931266 | 2005 | Aberrant expression of tetraspanin molecules in B-cell chronic lymphoproliferative disorders and its correlation with normal B-cell maturation. | Barrena S et al |
| 10733097 | 2000 | Increased expression of the tetraspanins CD53 and CD63 on apoptotic human neutrophils. | Beinert T et al |
| 16697123 | 2007 | Interleukin-2 receptor beta chain locus rearrangement in a T-cell acute lymphoblastic leukemia. | Berger R et al |
| 7833942 | 1994 | HindIII RFLP in the human CD53 gene on 1p13. | Gallego MI et al |
| 8307585 | 1993 | The human CD53 gene, coding for a four transmembrane domain protein, maps to chromosomal region 1p13. | Gonzalez ME et al |
| 16314869 | 2005 | Tetraspanin functions and associated microdomains. | Hemler ME et al |
| 11443129 | 2001 | Differential cooperation between regulatory sequences required for human CD53 gene expression. | Hernández-Torres J et al |
| 12598325 | 2003 | Gene expression patterns in renal cell carcinoma assessed by complementary DNA microarray. | Higgins JP et al |
| 8319976 | 1993 | Genomic structure of the human CD53 gene. | Korínek V et al |
| 17727684 | 2007 | Functional implications of tetraspanin proteins in cancer biology. | Lazo PA et al |
| 15827123 | 2005 | Gene expression profiling reveals molecularly and clinically distinct subtypes of glioblastoma multiforme. | Liang Y et al |
| 17429843 | 2007 | The CD53 and CEACAM-1 genes are genetic targets for early B cell factor. | Månsson R et al |
| 8757325 | 1996 | Transmembrane-4 superfamily proteins CD81 (TAPA-1), CD82, CD63, and CD53 specifically associated with integrin alpha 4 beta 1 (CD49d/CD29). | Mannion BA et al |
| 9067662 | 1997 | Recurrent infectious diseases in human CD53 deficiency. | Mollinedo F et al |
| 9862348 | 1998 | Gamma-glutamyl transpeptidase, an ecto-enzyme regulator of intracellular redox potential, is a component of TM4 signal transduction complexes. | Nichols TC et al |
| 8335905 | 1993 | CD53, a protein with four membrane-spanning domains, mediates signal transduction in human monocytes and B cells. | Olweus J et al |
| 7963560 | 1994 | Cross-linking of CD53 promotes activation of resting human B lymphocytes. | Rasmussen AM et al |
| 8816400 | 1996 | 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. | Szöllósi J et al |
| 8404042 | 1993 | Chromosomal localization of the Ox-44 (CD53) leukocyte antigen gene in man and rodents. | Taguchi T et al |
| 15869330 | 2005 | Determination of stromal signatures in breast carcinoma. | West RB et al |
| 12606948 | 2003 | Apoptosis protection and survival signal by the CD53 tetraspanin antigen. | Yunta M et al |
Other Information
Locus ID:
NCBI: 963
MIM: 151525
HGNC: 1686
Ensembl: ENSG00000143119
Variants:
dbSNP: 963
ClinVar: 963
TCGA: ENSG00000143119
COSMIC: CD53
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000143119 | ENST00000271324 | P19397 |
| ENSG00000143119 | ENST00000648608 | P19397 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Immune System | REACTOME | R-HSA-168256 |
| Innate Immune System | REACTOME | R-HSA-168249 |
| Neutrophil degranulation | REACTOME | R-HSA-6798695 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32440787 | 2020 | Tetraspanin CD53: an overlooked regulator of immune cell function. | 26 |
| 32974937 | 2020 | Open conformation of tetraspanins shapes interaction partner networks on cell membranes. | 22 |
| 32440787 | 2020 | Tetraspanin CD53: an overlooked regulator of immune cell function. | 26 |
| 32974937 | 2020 | Open conformation of tetraspanins shapes interaction partner networks on cell membranes. | 22 |
| 30506122 | 2019 | Association between CD53 genetic polymorphisms and tuberculosis cases. | 7 |
| 30506122 | 2019 | Association between CD53 genetic polymorphisms and tuberculosis cases. | 7 |
| 28878339 | 2017 | Pathogen lineage-based genome-wide association study identified CD53 as susceptible locus in tuberculosis. | 26 |
| 28878339 | 2017 | Pathogen lineage-based genome-wide association study identified CD53 as susceptible locus in tuberculosis. | 26 |
| 23313165 | 2013 | CD53, a suppressor of inflammatory cytokine production, is associated with population asthma risk via the functional promoter polymorphism -1560 C>T. | 13 |
| 23313165 | 2013 | CD53, a suppressor of inflammatory cytokine production, is associated with population asthma risk via the functional promoter polymorphism -1560 C>T. | 13 |
| 20237496 | 2010 | New genetic associations detected in a host response study to hepatitis B vaccine. | 37 |
| 20407468 | 2010 | A genome-wide linkage scan reveals CD53 as an important regulator of innate TNF-alpha levels. | 16 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
| 20237496 | 2010 | New genetic associations detected in a host response study to hepatitis B vaccine. | 37 |
| 20407468 | 2010 | A genome-wide linkage scan reveals CD53 as an important regulator of innate TNF-alpha levels. | 16 |
Citation
Pedro A Lazo
CD53 (CD53 molecule)
Atlas Genet Cytogenet Oncol Haematol. 2007-12-01
Online version: http://atlasgeneticsoncology.org/gene/983/cd53
