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Kell blood group Kx antigen (precursor substance, Kx antigen, Kell complex 37 kD component, XK-related protein 1, XK, XKR1, XRG1)
Function:
- role in Na+-dependent transport of neutral amino acids or oligopeptides
- not glycosylated
Structure: belongs to the XK family
Compartment: membrane
Expression:
- expressed in skeletal muscle, heart, brain & pancreas > placenta, lung, liver, & kidney
Polymorphism:
- XK is responsible for the Kx blood group system
Pathology:
- defects in XK are the cause of McLeod syndrome
General
antigen
plasma membrane protein
transmembrane 10 protein
XK family
Properties
SIZE: MW = 51 kD
entity length = 444 aa
COMPARTMENT: plasma membrane
MOTIF: cytoplasmic domain {1-2}
transmembrane domain {3-23}
exoplasmic loop {24-37}
transmembrane domain {38-58}
cytoplasmic loop {59-68}
MOTIF: Ser phosphorylation site {S63}
transmembrane domain {69-89}
exoplasmic loop {90-140}
transmembrane domain {141-161}
cytoplasmic loop {162-171}
transmembrane domain {172-192}
exoplasmic loop {193-208}
transmembrane domain {209-229}
cytoplasmic loop {230-235}
transmembrane domain {236-256}
exoplasmic loop {257-277}
transmembrane domain {278-298}
cytoplasmic loop {299-317}
transmembrane domain {318-338}
exoplasmic loop {339-349}
MOTIF: cysteine residue {C347}
MODIFICATION: cysteine residue {C72 IN KELL}
transmembrane domain {350-370}
cytoplasmic domain {371-444}
Database Correlations
OMIM 314850
MORBIDMAP 314850
UniProt P51811
Pfam PF09815
Entrez Gene 7504
Kegg hsa:7504
References
- UniProt :accession P51811
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/XK
- SeattleSNPs
http://pga.gs.washington.edu/data/xk/