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kell blood group glycoprotein; CD238 (KEL)

Function: - Zn+2 endopeptidase with endothelin-3-converting enzyme activity - heterodimer with XK; disulfide-linked Cofactor: binds 1 Zn+2 per subunit (putative) Structure: - belongs to the peptidase M13 family Compartment: - cell membrane; single-pass type 2 membrane protein - spans the erythrocyte membrane, & is attached to the underlying cytoskeleton Polymorphism: - KEL is responsible for the kell blood group system

Related

Kell blood group antigen (kell blood group system, KEL)

General

glycoprotein zinc metalloprotease

Properties

SIZE: entity length = 732 aa MW = 83 kD COMPARTMENT: cellular membrane MOTIF: transmembrane domain {48-67} cysteine residue {C72} MODIFICATION: cysteine residue {C347 IN XK} N-glycosylation site {N94} N-glycosylation site {N115} N-glycosylation site {N191} N-glycosylation site {N345} Zn+2-binding site SITE: 581-581 glutamate residue {E582} Zn+2-binding site SITE: 585-585 N-glycosylation site {N627} Zn+2-binding site SITE: 634-634 aspartate residue {D638}

Database Correlations

OMIM 110900 UniProt P23276 PFAM correlations Entrez Gene 3792 Kegg hsa:3792

References

  1. UniProt :accession P23276
  2. dbRBC/BGMUT; Note: Blood group antigen gene mutation database http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=kell
  3. GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/KEL
  4. SeattleSNPs http://pga.gs.washington.edu/data/kel/