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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
  • XKR1 3 4
  • McLeod Syndrome 2
  • MCLDS 3
  • 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. Among its related pathways are Signaling by GPCR and Peptide ligand-binding receptors. 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

Chromosome:
X
Start:
37,685,759 bp from pter
End:
37,732,130 bp from pter
Size:
46,372 bases
Orientation:
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:
    P51811-XK_HUMAN
    Recommended name:
    Membrane transport protein XK
    Protein Accession:
    P51811
    Secondary Accessions:
    • Q4TTN6
    • Q8IUK6
    • Q9UC77

    Protein attributes for XK Gene

    Size:
    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 & Families for XK Gene

Protein Domains for XK Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for XK Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P51811

UniProtKB/Swiss-Prot:

XK_HUMAN :
  • Belongs to the XK family.
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

Phenotypes for XK Gene

GenomeRNAi human phenotypes for XK:
genes like me logo Genes that share phenotypes 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) , 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

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

Gene Ontology (GO) - Cellular Components for XK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell --
GO:0005886 plasma membrane TAS --
GO:0016021 integral component of membrane TAS 9647734
genes like me logo Genes that share ontologies with XK: view

Pathways & Interactions for XK Gene

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

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 SIGNOR curated interactions for XK Gene

Drugs & Compounds for XK Gene

(23) Drugs for XK Gene - From: NovoSeek and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Oseltamivir Approved Pharma Target, inhibitor 88
Peramivir Approved, Investigational Pharma Target, Target 0
Zanamivir Approved, Investigational Pharma Target, Target, inhibitor 20
Zinc Approved Pharma 1404
1-[4-Carboxy-2-(3-Pentylamino)Phenyl]-5,5'-Di(Hydroxymethyl)Pyrrolidin-2-One Experimental Pharma Target 0

(1) Additional Compounds for XK Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
genes like me logo Genes that share compounds with XK: view

Transcripts for XK Gene

mRNA/cDNA for XK Gene

(2) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(35) Selected AceView cDNA 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
XK
ECgene alternative splicing isoforms for
XK

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 from HIPED for XK Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines 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

P51811-XK_HUMAN
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 expression patterns with XK: view

Protein tissue co-expression partners for XK Gene

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
cow
(Bos Taurus)
Mammalia XK 35
  • 81.4 (n)
  • 76.33 (a)
XK 36
  • 74 (a)
OneToOne
dog
(Canis familiaris)
Mammalia XK 35
  • 86.64 (n)
  • 87.39 (a)
XK 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Xk 35
  • 82.66 (n)
  • 82.43 (a)
Xk 16
Xk 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia XK 35
  • 99.55 (n)
  • 99.77 (a)
XK 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Xk 35
  • 81.94 (n)
  • 81.72 (a)
oppossum
(Monodelphis domestica)
Mammalia XK 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 70 (a)
OneToMany
-- 36
  • 68 (a)
OneToMany
chicken
(Gallus gallus)
Aves XK 35
  • 72.38 (n)
  • 74.31 (a)
XK 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia XK 36
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.1221 35
xk 35
  • 69.37 (n)
  • 72.16 (a)
zebrafish
(Danio rerio)
Actinopterygii xk 35
  • 63.99 (n)
  • 66.19 (a)
xk 36
  • 63 (a)
OneToOne
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

ENSEMBL:
Gene Tree for XK (if available)
TreeFam:
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

P51811-XK_HUMAN
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

Variation tolerance for XK Gene

Residual Variation Intolerance Score: 25.74% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.12; 2.70% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for XK Gene

HapMap Linkage Disequilibrium report
XK
Human Gene Mutation Database (HGMD)
XK
Blood Group Antigen Gene Mutation Database (BGMUT)
Blood Group System

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

Disorders for XK Gene

MalaCards: The human disease database

(7) MalaCards diseases for XK Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
mcleod syndrome with or without chronic granulomatous disease
  • mcleod syndrome
mcleod neuroacanthocytosis syndrome
  • microphthalmia, syndromic 7
choreoacanthocytosis
  • chorea-acanthocytosis
chronic granulomatous disease
  • quie syndrome
calpainopathy
  • limb-girdle muscular dystrophy type 2a
- elite association
Search XK in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

XK_HUMAN
  • 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.

Relevant External Links for XK

Genetic Association Database (GAD)
XK
Human Genome Epidemiology (HuGE) Navigator
XK
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
XK
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 neuroacanthocytosis: genotype and phenotype. (PMID: 11761473) Danek A. … Monaco A.P. (Ann. Neurol. 2001) 2 23 67
  2. Association of the NPAS3 gene and five other loci with response to the antipsychotic iloperidone identified in a whole genome association study. (PMID: 18521090) Lavedan C. … Polymeropoulos M.H. (Mol. Psychiatry 2009) 23 67
  3. Spontaneously arising red cells with a McLeod-like phenotype in normal donors. (PMID: 19909712) Araten D.J. … Lee S. (Mutat. Res. 2009) 23 67
  4. Identification and characterization of a novel XK splice site mutation in a patient with McLeod syndrome. (PMID: 19040496) Arnaud L. … Cartron J.P. (Transfusion 2009) 23 67
  5. The McLeod syndrome without acanthocytes. (PMID: 17870653) KlempA-r J. … Tilley L. (Parkinsonism Relat. Disord. 2008) 23 67

Products for XK Gene

Sources for XK Gene

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