KEL (Kell metallo-endopeptidase (Kell blood group))

2014-01-01 Affiliation

Identity

HGNC

KEL

LOCATION

7q34

LOCUSID

3792

ALIAS

CD238,ECE3,Kell

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: 3792
MIM: 613883
HGNC: 6308
Ensembl: ENSG00000197993

Variants:

dbSNP: 3792
ClinVar: 3792
TCGA: ENSG00000197993
COSMIC: KEL

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000197993	ENST00000355265	P23276
ENSG00000197993	ENST00000355265	A0A077QP03
ENSG00000197993	ENST00000460479	H0Y8A1
ENSG00000197993	ENST00000467543	E7ETW3
ENSG00000197993	ENST00000476829	E9PHG0

Expression (GTEx)

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
Signal Transduction	REACTOME	R-HSA-162582
Signaling by GPCR	REACTOME	R-HSA-372790
GPCR ligand binding	REACTOME	R-HSA-500792
Class A/1 (Rhodopsin-like receptors)	REACTOME	R-HSA-373076
Peptide ligand-binding receptors	REACTOME	R-HSA-375276

References

Pubmed ID	Year	Title	Citations
20431033	2010	Single PCR multiplex SNaPshot reaction for detection of eleven blood group nucleotide polymorphisms: optimization, validation, and one year of routine clinical use.	12
17379193	2007	The Kell and XK proteins of the Kell blood group are not co-expressed in the central nervous system.	10
18067501	2008	Blood group genotyping for Jk(a)/Jk(b), Fy(a)/Fy(b), S/s, K/k, Kp(a)/Kp(b), Js(a)/Js(b), Co(a)/Co(b), and Lu(a)/Lu(b) with microarray beads.	10
24845979	2014	High-throughput Kell, Kidd, and Duffy matrix-assisted laser desorption/ionization, time-of-flight mass spectrometry-based blood group genotyping of 4000 donors shows close to full concordance with serotyping and detects new alleles.	9
12842980	2003	Active amino acids of the Kell blood group protein and model of the ectodomain based on the structure of neutral endopeptidase 24.11.	5
15769748	2005	The Kell protein of the common K2 phenotype is a catalytically active metalloprotease, whereas the rare Kell K1 antigen is inactive. Identification of novel substrates for the Kell protein.	5
18510579	2008	Introduction of a real-time-based blood-group genotyping approach.	5
25582271	2015	Erythrocyte genotyping for transfusion-dependent patients at the Azienda Universitaria Policlinico of Naples.	5
15754970	2004	Genetic characterization of the population of Grande Comore Island (Njazidja) according to major blood groups.	3
16423827	2006	Endothelin-3-converting enzyme activity of the KEL1 and KEL6 phenotypes of the Kell blood group system.	2

Citation

Dessen P

KEL (Kell metallo-endopeptidase (Kell blood group))

Atlas Genet Cytogenet Oncol Haematol. 2014-01-01

Online version: http://atlasgeneticsoncology.org/gene/53653/kel