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
CD53
LOCATION
1p13.3
IMAGE
Atlas Image
LEGEND
Map of chromosomal region 1p13.3
LOCUSID
963
ALIAS
MOX44,TSPAN25
FUSION GENES
Show Gene Fusions

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

Entity name
T-cell acute lymphoblastic leukemia
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

Bibliography

Pubmed IDLast YearTitleAuthors

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
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

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
172106172007Analysis of the thiol status of peripheral blood leukocytes in rheumatoid arthritis patients.19
126069482003Apoptosis protection and survival signal by the CD53 tetraspanin antigen.17
165060602006The 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
204074682010A genome-wide linkage scan reveals CD53 as an important regulator of innate TNF-alpha levels.12
288783392017Pathogen lineage-based genome-wide association study identified CD53 as susceptible locus in tuberculosis.12
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
233131652013CD53, a suppressor of inflammatory cytokine production, is associated with population asthma risk via the functional promoter polymorphism -1560 C>T.7
305061222019Association 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/deep-insight-explorer/