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Aliases for XK Gene

Aliases for XK Gene

  • X-Linked Kx Blood Group 2 3
  • Kx Antigen 2 3 4
  • XK, Kell Blood Group Complex Subunit (McLeod Syndrome) 2 3
  • Kell Blood Group Precursor (McLeod Phenotype) 2 3
  • Kell Complex 37 KDa Component 3 4
  • XK-Related Protein 1 3 4
  • Neuroacanthocytosis 2 3
  • Neurocanthocytosis 2 3
  • MCLDS 3 6
  • XKR1 3 4
  • Membrane Transport Protein XK 3
  • McLeod Syndrome 2
  • XRG1 4
  • NAC 3
  • X1k 3
  • KX 3
  • NA 3

External Ids for XK Gene

Previous HGNC Symbols for XK Gene

  • NA
  • NAC

Previous GeneCards Identifiers for XK Gene

  • GC0XP035650
  • GC0XP035832
  • GC0XP036389
  • GC0XP036576
  • GC0XP036575
  • GC0XP037301
  • GC0XP037430
  • GC0XP037545
  • GC0XP035290

Summaries for XK Gene

Entrez Gene Summary for XK Gene

  • This locus controls the synthesis of the Kell blood group 'precursor substance' (Kx). Mutations in this gene have been associated with McLeod syndrome, an X-linked, recessive disorder characterized by abnormalities in the neuromuscular and hematopoietic systems. The encoded protein has structural characteristics of prokaryotic and eukaryotic membrane transport proteins. [provided by RefSeq, Jul 2008]

GeneCards Summary for XK Gene

XK (X-Linked Kx Blood Group) is a Protein Coding gene. Diseases associated with XK include mcleod syndrome with or without chronic granulomatous disease and mcleod neuroacanthocytosis syndrome. GO annotations related to this gene include transporter activity. An important paralog of this gene is XKR3.

UniProtKB/Swiss-Prot for XK Gene

  • May be involved in sodium-dependent transport of neutral amino acids or oligopeptides

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for XK Gene

Genomics for XK Gene

Regulatory Elements for XK Gene

Genomic Location for XK Gene

37,685,759 bp from pter
37,732,130 bp from pter
46,372 bases
Plus strand

Genomic View for XK Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for XK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for XK Gene

Proteins for XK Gene

  • Protein details for XK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Membrane transport protein XK
    Protein Accession:
    Secondary Accessions:
    • Q4TTN6
    • Q8IUK6
    • Q9UC77

    Protein attributes for XK Gene

    444 amino acids
    Molecular mass:
    50902 Da
    Quaternary structure:
    • Heterodimer with Kell; disulfide-linked.

neXtProt entry for XK Gene

Proteomics data for XK Gene at MOPED

Post-translational modifications for XK Gene

Other Protein References for XK Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for XK Gene

Domains for XK Gene

Protein Domains for XK Gene


Suggested Antigen Peptide Sequences for XK Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the XK family.
  • Belongs to the XK family.
genes like me logo Genes that share domains with XK: view

Function for XK Gene

Molecular function for XK Gene

UniProtKB/Swiss-Prot Function:
May be involved in sodium-dependent transport of neutral amino acids or oligopeptides

Gene Ontology (GO) - Molecular Function for XK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity TAS 8004674
GO:0005515 protein binding IPI 7737196
genes like me logo Genes that share ontologies with XK: view

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for XK

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targets and HOMER Transcription for XK Gene

Localization for XK Gene

Subcellular locations from UniProtKB/Swiss-Prot for XK Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

Jensen Localization Image for XK Gene COMPARTMENTS Subcellular localization image for XK gene
Compartment Confidence
plasma membrane 3
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for XK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane TAS 9647734
genes like me logo Genes that share ontologies with XK: view

Pathways for XK Gene

SuperPathways for XK Gene

No Data Available

Interacting Proteins for XK Gene

Gene Ontology (GO) - Biological Process for XK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 8004674
GO:0006865 amino acid transport IEA --
GO:0006874 cellular calcium ion homeostasis IEA --
GO:0008361 regulation of cell size IEA --
GO:0010961 cellular magnesium ion homeostasis IEA --
genes like me logo Genes that share ontologies with XK: view

No data available for Pathways by source for XK Gene

Drugs for XK Gene

(21) Drugbank Compounds for XK Gene

Compound Status Synonyms Cas Number PubChem ID Type Actions PubMed IDs
229614-55-5 151164 Target, Target approved, investigational
  • (2R,3R,4S)-3-(acetylamino)-4-Carbamimidamido-2-[(1R,2R)-1,2,3-trihydroxypropyl]-3,4-dihydro-2H-pyran-6-carboxylic acid
139110-80-8 60855 Target, Target inhibitor approved, investigational
  • (-)-Oseltamivir
204255-11-8 65028 Target inhibitor approved
444508 Target experimental
2,4-Deoxy-4-Guanidino-5-N-Acetyl-Neuraminic Acid
46936668 Target experimental

(1) HMDB Compounds for XK Gene

Compound Synonyms Cas Number PubMed IDs
  • Sodium

(2) Novoseek inferred chemical compound relationships for XK Gene

Compound -log(P) Hits PubMed IDs
zinc 10.1 2
cysteine 0 1
genes like me logo Genes that share compounds with XK: view

Transcripts for XK Gene

mRNA/cDNA for XK Gene

(35) Selected AceView cDNA sequences:
(2) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for XK Gene

X-linked Kx blood group (McLeod syndrome):
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for XK

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for XK Gene

No ASD Table

Relevant External Links for XK Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for XK Gene

mRNA expression in normal human tissues for XK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for XK Gene

This gene is overexpressed in Peripheral blood mononuclear cells (66.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for XK Gene

SOURCE GeneReport for Unigene cluster for XK Gene Hs.78919

mRNA Expression by UniProt/SwissProt for XK Gene

Tissue specificity: High levels in skeletal muscle, heart, brain, and pancreas; low levels in placenta, lung, liver, and kidney
genes like me logo Genes that share expressions with XK: view

Expression partners for XK Gene

* - Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for XK Gene

Orthologs for XK Gene

This gene was present in the common ancestor of chordates.

Orthologs for XK Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia XK 35
  • 81.4 (n)
  • 76.33 (a)
XK 36
  • 74 (a)
(Canis familiaris)
Mammalia XK 35
  • 86.64 (n)
  • 87.39 (a)
XK 36
  • 87 (a)
(Mus musculus)
Mammalia Xk 35
  • 82.66 (n)
  • 82.43 (a)
Xk 16
Xk 36
  • 82 (a)
(Pan troglodytes)
Mammalia XK 35
  • 99.55 (n)
  • 99.77 (a)
XK 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Xk 35
  • 81.94 (n)
  • 81.72 (a)
(Monodelphis domestica)
Mammalia XK 36
  • 74 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 70 (a)
-- 36
  • 68 (a)
(Gallus gallus)
Aves XK 35
  • 72.38 (n)
  • 74.31 (a)
XK 36
  • 72 (a)
(Anolis carolinensis)
Reptilia XK 36
  • 57 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.1221 35
xk 35
  • 69.37 (n)
  • 72.16 (a)
(Danio rerio)
Actinopterygii xk 35
  • 63.99 (n)
  • 66.19 (a)
xk 36
  • 63 (a)
Species with no ortholog for XK:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for XK Gene

Gene Tree for XK (if available)
Gene Tree for XK (if available)

Paralogs for XK Gene

Paralogs for XK Gene

(2) SIMAP similar genes for XK Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with XK: view

Variants for XK Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for XK Gene

XK is responsible for the Kx blood group system

Sequence variations from dbSNP and Humsavar for XK Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs927071 -- 37,714,011(+) CCCAC(A/C)GTATC intron-variant
rs1989526 -- 37,705,183(+) GCTCA(C/T)GCCTG intron-variant
rs2230148 -- 37,728,551(+) GGAAC(A/T)AGGCA utr-variant-3-prime
rs2281540 -- 37,701,984(+) CTTGG(C/T)CTTTG intron-variant
rs2281541 -- 37,723,467(+) ATGAT(A/G)ATTAA intron-variant

Relevant External Links for XK Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)
Blood Group Antigen Gene Mutation Database (BGMUT)
Blood Group

No data available for Structural Variations from Database of Genomic Variants (DGV) for XK Gene

Disorders for XK Gene

(1) OMIM Diseases for XK Gene (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. {ECO:0000269 PubMed:11761473, ECO:0000269 PubMed:11961232, ECO:0000269 PubMed:12823753}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for XK Gene

(9) Novoseek inferred disease relationships for XK Gene

Disease -log(P) Hits PubMed IDs
neuroacanthocytosis 96.5 7
chorea-acanthocytosis 83.5 1
granulomatous disease chronic 67.9 3
myopathy 62.6 4
muscular dystrophy duchenne 52.3 2

Relevant External Links for XK

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with XK: view

No data available for Genatlas for XK Gene

Publications for XK Gene

  1. McLeod phenotype associated with a XK missense mutation without hematologic, neuromuscular, or cerebral involvement. (PMID: 12823753) Jung H.H. … Frey B.M. (Transfusion 2003) 3 4 23 48
  2. McLeod neuroacanthocytosis: genotype and phenotype. (PMID: 11761473) Danek A. … Monaco A.P. (Ann. Neurol. 2001) 2 3 4 23
  3. Purification and partial characterization of the erythrocyte Kx protein deficient in McLeod patients. (PMID: 7737196) Khamlichi S. … Bertrand O. (Eur. J. Biochem. 1995) 3 4 23
  4. Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein. (PMID: 8004674) Ho M. … Monaco A.P. (Cell 1994) 2 3 4
  5. Association of XK and Kell blood group proteins. (PMID: 9593744) Russo D. … Lee S. (J. Biol. Chem. 1998) 3 4 23

Products for XK Gene

Sources for XK Gene

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