CD53 (CD53 molecule)

2007-12-01 Pedro A Lazo Affiliation

Instituto de Biologia Molecular y Celular del Cancer, CSIC-Universidad de Salamanca, campus Miguel de Unamuno, E-37007 Salamanca, Spain

Identity

HGNC

CD53

LOCATION

1p13.3

IMAGE

LEGEND

Map of chromosomal region 1p13.3

LOCUSID

963

ALIAS

MOX44,TSPAN25

FUSION GENES

Show Gene Fusions

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.

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

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.

Fusion protein

None

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)

100

200

300

400

500

600

700

800

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

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)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
20237496	2010	New genetic associations detected in a host response study to hepatitis B vaccine.	27
17210617	2007	Analysis of the thiol status of peripheral blood leukocytes in rheumatoid arthritis patients.	19
12606948	2003	Apoptosis protection and survival signal by the CD53 tetraspanin antigen.	17
16506060	2006	The effects of intensive, moderate and downhill treadmill running on human blood lymphocytes expressing the adhesion/activation molecules CD54 (ICAM-1), CD18 (beta2 integrin) and CD53.	14
20407468	2010	A genome-wide linkage scan reveals CD53 as an important regulator of innate TNF-alpha levels.	12
28878339	2017	Pathogen lineage-based genome-wide association study identified CD53 as susceptible locus in tuberculosis.	12
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.	11
23313165	2013	CD53, a suppressor of inflammatory cytokine production, is associated with population asthma risk via the functional promoter polymorphism -1560 C>T.	7
30506122	2019	Association between CD53 genetic polymorphisms and tuberculosis cases.	1

Citation

Pedro A Lazo

CD53 (CD53 molecule)

Atlas Genet Cytogenet Oncol Haematol. 2007-12-01

Online version: http://atlasgeneticsoncology.org/gene/983/cd53