Version 5.4
Homo sapiens Protein: XK
Summary
InnateDB Protein IDBP-55756.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol XK
Protein Name X-linked Kx blood group (McLeod syndrome)
Synonyms KX; MCLDS; NA; NAC; X1k; XKR1;
Species Homo sapiens
Ensembl Protein ENSP00000367879
InnateDB Gene IDBG-55754 (XK)
Protein Structure
UniProt Annotation
Function May be involved in sodium-dependent transport of neutral amino acids or oligopeptides.
Subcellular Localization Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
Disease Associations 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. {ECO:0000269PubMed:11761473, ECO:0000269PubMed:11961232, ECO:0000269PubMed:12823753}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity High levels in skeletal muscle, heart, brain, and pancreas; low levels in placenta, lung, liver, and kidney.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated
Total 5 [view]
Protein-Protein 2 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005215 transporter activity
GO:0005515 protein binding
Biological Process
GO:0006810 transport
GO:0006865 amino acid transport
Cellular Component
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro IPR018629 Transport protein XK
PFAM PF09815
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P51811
PhosphoSite PhosphoSite-P51811
TrEMBL Q2Z218
UniProt Splice Variant
Entrez Gene 7504
UniGene Hs.78919
RefSeq NP_066569
HUGO HGNC:12811
OMIM 314850
CCDS CCDS14241
HPRD 02444
IMGT
EMBL AB214532 AY534238 BC036019 DQ062746 Z32684
GenPept AAH36019 AAT07087 AAY43132 BAE48708 CAA83632

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca