PRELP (proline and arginine rich end leucine rich repeat protein)

2014-02-01 Affiliation

Identity

HGNC

PRELP

LOCATION

1q32.1

LOCUSID

5549

ALIAS

MST161,MSTP161,SLRR2A

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 5549
MIM: 601914
HGNC: 9357
Ensembl: ENSG00000188783

Variants:

dbSNP: 5549
ClinVar: 5549
TCGA: ENSG00000188783
COSMIC: PRELP

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000188783	ENST00000343110	P51888

Expression (GTEx)

500

1000

1500

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
Disease	REACTOME	R-HSA-1643685
Diseases of glycosylation	REACTOME	R-HSA-3781865
Diseases associated with glycosaminoglycan metabolism	REACTOME	R-HSA-3560782
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)	REACTOME	R-HSA-3656244
Defective CHST6 causes MCDC1	REACTOME	R-HSA-3656225
Metabolism	REACTOME	R-HSA-1430728
Metabolism of carbohydrates	REACTOME	R-HSA-71387
Glycosaminoglycan metabolism	REACTOME	R-HSA-1630316
Keratan sulfate/keratin metabolism	REACTOME	R-HSA-1638074
Keratan sulfate biosynthesis	REACTOME	R-HSA-2022854
Keratan sulfate degradation	REACTOME	R-HSA-2022857
Defective ST3GAL3 causes MCT12 and EIEE15	REACTOME	R-HSA-3656243

References

Pubmed ID	Year	Title	Citations
20201926	2010	Human variation in alcohol response is influenced by variation in neuronal signaling genes.	45
19536175	2009	Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study.	30
17093390	2006	Small leucine rich repeat proteoglycans (SLRPs) in the human sclera: identification of abundant levels of PRELP.	12
22267731	2012	PRELP protein inhibits the formation of the complement membrane attack complex.	11
17123807	2007	The consequence of PRELP overexpression on skin.	5
23826326	2013	A proline/arginine-rich end leucine-rich repeat protein (PRELP) variant is uniquely expressed in chronic lymphocytic leukemia cells.	5
23442027	2013	Proline/arginine-rich end leucine-rich repeat protein converts stem cells to ligament tissue and Zn(II) influences its nuclear expression.	3
28678915	2017	Increased expression of ID2, PRELP and SMOC2 genes in patients with endometriosis.	3
26920026	2016	The leucine-rich repeat protein PRELP binds fibroblast cell-surface proteoglycans and enhances focal adhesion formation.	2
28148731	2017	PRELP Enhances Host Innate Immunity against the Respiratory Tract Pathogen <i>Moraxella catarrhalis</i>.	2

Citation

Dessen P

PRELP (proline and arginine rich end leucine rich repeat protein)

Atlas Genet Cytogenet Oncol Haematol. 2014-02-01

Online version: http://atlasgeneticsoncology.org/gene/53811/prelp