CD53 (CD53 molecule)

2007-12-01   Pedro A Lazo  

Instituto 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
Atlas Image
LEGEND
Map of chromosomal region 1p13.3
LOCUSID
ALIAS
MOX44,TSPAN25
FUSION GENES

DNA/RNA

Atlas Image
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.
Atlas Image
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

Cytogenetics
t(1;22)(p13;q13)
Atlas Image
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 IDLast YearTitleAuthors
159312662005Aberrant expression of tetraspanin molecules in B-cell chronic lymphoproliferative disorders and its correlation with normal B-cell maturation.Barrena S et al
107330972000Increased expression of the tetraspanins CD53 and CD63 on apoptotic human neutrophils.Beinert T et al
166971232007Interleukin-2 receptor beta chain locus rearrangement in a T-cell acute lymphoblastic leukemia.Berger R et al
78339421994HindIII RFLP in the human CD53 gene on 1p13.Gallego MI et al
83075851993The human CD53 gene, coding for a four transmembrane domain protein, maps to chromosomal region 1p13.Gonzalez ME et al
163148692005Tetraspanin functions and associated microdomains.Hemler ME et al
114431292001Differential cooperation between regulatory sequences required for human CD53 gene expression.Hernández-Torres J et al
125983252003Gene expression patterns in renal cell carcinoma assessed by complementary DNA microarray.Higgins JP et al
83199761993Genomic structure of the human CD53 gene.Korínek V et al
177276842007Functional implications of tetraspanin proteins in cancer biology.Lazo PA et al
158271232005Gene expression profiling reveals molecularly and clinically distinct subtypes of glioblastoma multiforme.Liang Y et al
174298432007The CD53 and CEACAM-1 genes are genetic targets for early B cell factor.Månsson R et al
87573251996Transmembrane-4 superfamily proteins CD81 (TAPA-1), CD82, CD63, and CD53 specifically associated with integrin alpha 4 beta 1 (CD49d/CD29).Mannion BA et al
90676621997Recurrent infectious diseases in human CD53 deficiency.Mollinedo F et al
98623481998Gamma-glutamyl transpeptidase, an ecto-enzyme regulator of intracellular redox potential, is a component of TM4 signal transduction complexes.Nichols TC et al
83359051993CD53, a protein with four membrane-spanning domains, mediates signal transduction in human monocytes and B cells.Olweus J et al
79635601994Cross-linking of CD53 promotes activation of resting human B lymphocytes.Rasmussen AM et al
88164001996Supramolecular 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
84040421993Chromosomal localization of the Ox-44 (CD53) leukocyte antigen gene in man and rodents.Taguchi T et al
158693302005Determination of stromal signatures in breast carcinoma.West RB et al
126069482003Apoptosis 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 IDTranscript IDUniprot
ENSG00000143119ENST00000271324P19397
ENSG00000143119ENST00000648608P19397

Expression (GTEx)

0
100
200
300
400
500
600
700
800

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
324407872020Tetraspanin CD53: an overlooked regulator of immune cell function.26
329749372020Open conformation of tetraspanins shapes interaction partner networks on cell membranes.22
324407872020Tetraspanin CD53: an overlooked regulator of immune cell function.26
329749372020Open conformation of tetraspanins shapes interaction partner networks on cell membranes.22
305061222019Association between CD53 genetic polymorphisms and tuberculosis cases.7
305061222019Association between CD53 genetic polymorphisms and tuberculosis cases.7
288783392017Pathogen lineage-based genome-wide association study identified CD53 as susceptible locus in tuberculosis.26
288783392017Pathogen lineage-based genome-wide association study identified CD53 as susceptible locus in tuberculosis.26
233131652013CD53, a suppressor of inflammatory cytokine production, is associated with population asthma risk via the functional promoter polymorphism -1560 C>T.13
233131652013CD53, a suppressor of inflammatory cytokine production, is associated with population asthma risk via the functional promoter polymorphism -1560 C>T.13
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.37
204074682010A genome-wide linkage scan reveals CD53 as an important regulator of innate TNF-alpha levels.16
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.37
204074682010A 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/js/hgnc