RBCC Red Blood Cell Collection

XK_HUMAN

Source: hRBCD ; ID: IPI00020896
PM19886704
PM23856902
BGMUT ; ID: xk
BSc_CH
PM22954596
Marked as 'Integral membrane protein'
Confidence: high (a blood group or CD marker) Search PubMed for
(RBC AND this entry)
Gene names: XK , XKR1, XRG1
Protein names and data: XK_HUMAN , Membrane transport protein XK , Kell complex 37 kDa component; Kx antigen; XK-related protein 1 Lenght: 444 a.a.
Mass: 50902 Da
fasta formatted sequence
Function: May be involved in sodium-dependent transport of neutral amino acids or oligopeptides.
Disease: ( OMIM: 300842 314850 ) McLeod syndrome (MLS) [MIM:300842]: A multisystem disorder characterized by the absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, and compensated hemolysis. Most carriers of this McLeod blood group phenotype have acanthocytosis and elevated serum creatine kinase levels and are prone to develop a severe neurologic disorder resembling Huntington disease. Additional symptoms include generalized seizures, neuromuscular symptoms leading to weakness and atrophy, and cardiomyopathy mainly manifesting with atrial fibrillation, malignant arrhythmias, and dilated cardiomyopathy. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Membrane; Multi-pass membrane protein (Potential).
Tissue specificity: High levels in skeletal muscle, heart, brain, and pancreas; low levels in placenta, lung, liver, and kidney.

Genetic variants

XK is responsible for the Kx blood group system.

222 - 222 R -> G (in MLS). VAR_013817
294 - 294 C -> R (in MLS; dbSNP:rs28933690). VAR_013818 28933690
327 - 327 E -> K (in MLS; atypical without hematologic, neuromuscular, or cerebral involvement; protein seems functional). VAR_023581

Database cross-references

UniProt: P51811
Ensembl: ENST00000378616
Ensembl: ENST00000601300
MIM: 300842
MIM: 314850
neXtProt: NX_P51811
Antibodypedia: P51811 (may not find the protein thus also not any antibody)
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