KEL
Kell Blood Group Glycoprotein
Gene Information Card
| Symbol | KEL |
|---|---|
| Full Name | Kell blood group glycoprotein |
| Gene Type | protein-coding |
| Chromosomal Location | 7q34 |
| NCBI Gene ID | 3792 ncbi.nlm.nih.gov/gene/3792 |
| Ensembl ID | ENSG00000197993 |
| UniProt ID | P23276 |
| OMIM ID | 110900 |
| HGNC ID | 6308 |
| Aliases | CD238, KELL, KELL1, KELL2 |
Description
The KEL gene encodes the Kell blood group glycoprotein, a type II transmembrane endopeptidase that processes endothelin-3. It is expressed primarily in erythroid cells and plays a role in blood group antigenicity. Mutations in KEL can lead to the McLeod phenotype, characterized by acanthocytosis, hemolytic anemia, and neurological abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| McLeod syndrome | Loss-of-function mutations in KEL cause absence of Kell antigens, leading to red cell acanthocytosis and neurological degeneration. | OMIM #300842, ClinVar |
| Chronic granulomatous disease (CGD) with McLeod phenotype | Contiguous gene deletion involving KEL and XK on X chromosome results in combined immunodeficiency and red cell abnormalities. | OMIM #306400, ClinVar |
| Kell blood group incompatibility | Alloimmunization to Kell antigens (e.g., K1) can cause hemolytic disease of the fetus and newborn (HDFN). | NCBI Gene, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Spleen | 8.3 | Low |
| Whole blood | 6.1 | Low |
| Lymph node | 4.2 | Low |
| Brain | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (erythroleukemia) | 15.2 | High expression |
| HEL (erythroleukemia) | 11.8 | Medium expression |
| TF-1 (erythroblast) | 9.5 | Medium expression |
| HL-60 (promyeloblast) | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1021C>T (p.Arg341Trp) | Missense | Rare | Loss of Kell antigen expression; associated with McLeod phenotype |
| c.578C>T (p.Thr193Met) | Missense | Rare | Alters Kell antigenicity; K1/K2 polymorphism |
| c.947G>A (p.Arg316His) | Missense | Rare | Reduced endopeptidase activity; linked to weak Kell expression |
| c.1240C>T (p.Arg414Cys) | Missense | Rare | Disrupts disulfide bond; loss of antigen expression |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg341Trp) that disrupt protein folding or catalytic activity lead to loss of Kell antigen expression and McLeod phenotype.
Gain of Function (GOF)
No gain-of-function mutations reported in KEL.
Dominant Negative (DN)
No dominant-negative mutations reported in KEL.
View complete mutation data：
Gene Ontology (GO)
| • metalloendopeptidase activity (GO:0004222) | • zinc ion binding (GO:0008270) |
| • integral component of plasma membrane (GO:0005887) | • blood group antigen activity (GO:0005550) |
| • endothelin processing (GO:0016486) |
Pathways
• Endothelin processing (Reactome: R-HSA-166658)
• Blood group antigen biosynthesis (Reactome: R-HSA-9033808)
Protein Summary
The Kell blood group glycoprotein is a 732-amino acid type II transmembrane zinc-dependent endopeptidase. It cleaves big endothelin-3 to produce active endothelin-3, a vasoactive peptide. The protein carries multiple blood group antigens (e.g., K, k, Kp^a, Kp^b, Js^a, Js^b). Its extracellular domain contains 15 cysteine residues forming disulfide bonds critical for antigenicity. Mutations can lead to antigen loss or altered expression, with clinical implications in transfusion medicine and neurology.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KEL Knockout HEK293 Cell Line | EDJ-KQ5055 | Human | 3792 | Details Get a Quote |
| KEL Knockout HeLa Cell Line | EDJ-KQ53732 | Human | 3792 | Details Get a Quote |
| KEL Knockout A-549 Cell Line | EDJ-KQ62208 | Human | 3792 | Details Get a Quote |
| KEL Knockout HCT 116 Cell Line | EDJ-KQ70695 | Human | 3792 | Details Get a Quote |
