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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

XK Gene

protein-coding   GIFtS: 53
GCID: GC0XP037545

X-linked Kx blood group (McLeod syndrome)

(Previous names: Kell blood group precursor (McLeod phenotype), XK, Kell...)
 Explore 16 diseases affiliated with
XK via our new
 Human Malady Compendium 
Biological research products
for XK
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
X-Linked Kx Blood Group (McLeod Syndrome)1 2     XK-Related Protein 12 3
XKR11 2 3     Kx1
X1k1 2     KX2
Kell Blood Group Precursor (McLeod Phenotype)1 2     MCLDS2
XK, Kell Blood Group Complex Subunit (McLeod Syndrome)1 2     Membrane Transport Protein XK2
Kell Complex 37 KDa Component2 3     XRG13
Kx Antigen2 3     

External Ids:    HGNC: 128111   Entrez Gene: 75042   Ensembl: ENSG000000475977   OMIM: 3148505   UniProtKB: P518113   

Export aliases for XK gene to outside databases

Previous GC identifers: GC0XP035650 GC0XP035832 GC0XP036389 GC0XP036576 GC0XP036575 GC0XP037301 GC0XP037430 GC0XP035290


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for XK:
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)

UniProtKB/Swiss-Prot: XK_HUMAN, P51811
Function: May be involved in sodium-dependent transport of neutral amino acids or oligopeptides




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_079573.4  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the XK gene promoter:
         STAT5B   STAT1   STAT4   STAT1beta   STAT5A   Nkx2-5   STAT1alpha   STAT2   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidXK promoter sequence
   Search SABiosciences Chromatin IP Primers for XK

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat XK


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp21.1   Ensembl cytogenetic band:  Xp21.1   HGNC cytogenetic band: Xp21.1

XK Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
XK gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP037545:  view genomic region     (about GC identifiers)

Start:
37,545,012 bp from pter      End:
37,591,383 bp from pter
Size:
46,372 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: XK_HUMAN, P51811 (See protein sequence)
Recommended Name: Membrane transport protein XK  
Size: 444 amino acids; 50902 Da
Subunit: Heterodimer with Kell; disulfide-linked
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Secondary accessions: Q4TTN6 Q8IUK6 Q9UC77

Explore the universe of human proteins at neXtProt for XK: NX_P51811

Post-translational modifications:

  • Not glycosylated1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P51811

  • XK Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_066569.1  
    ENSEMBL proteins: 
     ENSP00000367879  

    Human Recombinant Protein Products: 
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    Uscn Proteins for XK

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane TAS9647734


    XK for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    XK for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR018629 Transport_prot_XK

    Graphical View of Domain Structure for InterPro Entry P51811

    ProtoNet protein and cluster: P51811

    UniProtKB/Swiss-Prot: XK_HUMAN, P51811
    Similarity: Belongs to the XK family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: XK_HUMAN, P51811
    Function: May be involved in sodium-dependent transport of neutral amino acids or oligopeptides

    miRNA
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity TAS8004674
    GO:0005515protein binding IPI7737196


    XK for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for XK

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    5 Interacting proteins for XK (P518113 ENSP000003678794) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KELP232763, ENSP000003474094I2D: score=2 STRING: ENSP00000347409
    CSNK2A1P684003, ENSP000002172444I2D: score=3 STRING: ENSP00000217244
    PRKCAP172523, ENSP000002843844I2D: score=2 STRING: ENSP00000284384
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    CLGNENSP000003266994STRING: ENSP00000326699
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS8004674
    GO:0006865amino acid transport IEA--


    XK for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    XK for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for XK

    1 HMDB Compound for XK    About this table
    CompoundSynonyms CAS #PubMed Ids
    SodiumSodium (see all 2)7440-23-5--
    2 Novoseek chemical compound relationships for XK gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 10.1 2 9593744 (1), 11375401 (1)
    cysteine 0 1 9593744 (1)

    Search CenterWatch for drugs/clinical trials and news about XK 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for XK gene: 
    NM_021083.2  

    Unigene Cluster for XK:

    X-linked Kx blood group (McLeod syndrome)
    Hs.78919  [show with all ESTs]
    Unigene Representative Sequence: Z32684
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000378616(uc004ddq.3)

    miRNA
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    hsa-miR-194* hsa-miR-4307 hsa-miR-640 hsa-let-7d hsa-miR-374a hsa-let-7g hsa-let-7a hsa-miR-330-3p
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    Inhib. RNA
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    Additional cDNA sequence: 

    AY534238.1 BC036019.1 Z32684.2 

    2 DOTS entries:

    DT.408985  DT.65284751 

    24/35 AceView cDNA sequences (see all 35):

    CB118001 F05652 NM_021083 Z44247 Z41101 AI697050 F08018 Z45634 
    F01908 AI174882 CK429656 F04531 AI351187 BC036019 BX503408 Z32684 
    AL120168 BX479653 BF445285 BX480634 F03944 BF445286 BI461092 Z44993 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    XK expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCACTTGGAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See XK Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for XK

    SOURCE GeneReport for Unigene cluster: Hs.78919

    UniProtKB/Swiss-Prot: XK_HUMAN, P51811
    Tissue specificity: High levels in skeletal muscle, heart, brain, and pancreas; low levels in placenta, lung, liver,
    and kidney

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XK

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for XK gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves XK1 X-linked Kx blood group (McLeod syndrome) 72.31(n)
    74.48(a)
      427991  NM_001034822.1  NP_001029994.1 
    lizard
    (Anolis carolinensis)
    Reptilia XK6
    --
    69(a)
    1 ↔ 1
    3(132126954-132165941)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.12212 Transcribed sequence with weak similarity to protein more 75.97(n)    142003978 
    zebrafish
    (Danio rerio)
    Actinopterygii xk1 X-linked Kx blood group (McLeod syndrome) 65.82(n)
    69.13(a)
      497076  NM_001012254.1  NP_001012254.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for XK gene
    XKRX2  XKR32  
    2 SIMAP similar genes for XK using alignment to 2 protein entries:     XK_HUMAN (see all proteins):
    XKRX    XKR3

    XK for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: XK_HUMAN, P51811
    Polymorphism: XK is responsible for the Kx blood group system


    10/454 NCBI SNPs in XK are shown (see all 454    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048949531,2
    Cpathogenic37587321(+) TAATTA/GGTACC 4 * W stg10--------
    rs1837251911,2
    --37543144(+) AATGCA/GATACA 1 -- us2k10--------
    rs1872708871,2
    --37543386(+) TGATAC/TTGCTT 1 -- us2k10--------
    rs625885221,2
    C,--37543411(+) AGTTTA/GCTCAC 1 -- us2k11Minor allele frequency- G:0.00NA 2
    rs1901094701,2
    --37544111(+) GCCTGA/GAGATT 1 -- us2k10--------
    rs726194201,2
    C,--37544115(+) GAAGAC/TTGAAA 1 -- us2k10--------
    rs1825027571,2
    --37544162(+) ATTTAA/TGTCTA 1 -- us2k10--------
    rs1868240031,2
    --37544213(+) TTGATA/CGAGGT 1 -- us2k10--------
    rs1912045801,2
    --37544340(+) TCTTGA/GAATAA 1 -- us2k10--------
    rs289405921,2
    C,F,H,--37544928(+) ACTGGT/CGAGCG 1 -- us2k18Minor allele frequency- C:0.92NS NA 972

    HapMap Linkage Disequilibrium report for XK (37545012 - 37591383 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for XK: --
    Human Gene Mutation Database (HGMD): XK

    Locus Specific Mutation Databases (LSDB): XK
    Blood Group Antigen Gene Mutation Database (BGMUT) blood group system

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    XK for disorders           About GeneDecksing

    OMIM gene information: 314850    OMIM disorders: --

    UniProtKB/Swiss-Prot: XK_HUMAN, P51811
  • Defects in XK are the cause of McLeod syndrome (MLS) [MIM:300842]. It is an X-linked multisystem disorder
  • characterized by late onset abnormalities in the neuromuscular and hematopoietic systems

    16 diseases for XK:    About MalaCards
    mcleod syndrome    mcleod neuroacanthocytosis syndrome    neuroacanthocytosis    mcleod syndrome with neuroacanthosis
    acanthocytosis    calpainopathy    chorea    chronic granulomatous disease
    dilated cardiomyopathy    huntington's disease    mood disorder    cardiomyopathy
    protein s deficiency    myopathy    cerebritis    schizophrenia

    2 diseases from the University of Copenhagen DISEASES database for XK:
    Neuroacanthocytosis     Ornithine carbamoyltransferase deficiency

    9 Novoseek disease relationships for XK gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    neuroacanthocytosis 96.5 7 9268240 (2), 10882128 (1), 11104227 (1), 17277857 (1) (see all 6)
    chorea-acanthocytosis 83.5 1 11761473 (1)
    granulomatous disease chronic 67.9 3 11032622 (1), 17300882 (1), 18167163 (1)
    myopathy 62.6 5 11562915 (2), 1734714 (1), 12823753 (1)
    muscular dystrophy duchenne 52.3 2 11032622 (1), 17300882 (1)
    muscular dystrophies 50.7 1 10791880 (1)
    huntington disease 45.1 1 11761473 (1)
    atrophy 35 3 11562915 (1), 17469188 (1)
    cardiomyopathy 25.1 1 9268240 (1)

    GeneTests: XK
    McLeod Neuroacanthocytosis Syndrome

    Genetic Association Database (GAD): XK
    Human Genome Epidemiology (HuGE) Navigator: XK (18 documents)

    Export disorders for XK gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for XK gene, integrated from 9 sources (see all 63):
    (articles sorted by number of sources associating them with XK)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. McLeod phenotype associated with a XK missense mutation without hematologic, neuromuscular, or cerebral involvement. (PubMed id 12823753)1, 2, 4, 9 Jung H.H.... Frey B.M. (2003)
    2. Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein. (PubMed id 8004674)1, 2, 3 Ho M.... Monaco A.P. (1994)
    3. Association of XK and Kell blood group proteins. (PubMed id 9593744)1, 2, 9 Russo D.... Lee S. (1998)
    4. Purification and partial characterization of the erythrocyte Kx protein deficient in McLeod patients. (PubMed id 7737196)1, 2, 9 Khamlichi S....Bertrand O. (1995)
    5. McLeod neuroacanthocytosis: genotype and phenotype. (PubMed id 11761473)1, 2, 9 Danek A.... Monaco A.P. (2001)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Point mutations causing the McLeod phenotype. (PubMed id 11961232)1, 2 Russo D.C.... Redman C.M. (2002)
    8. A murine monoclonal antibody against Kx protein which reacts also with beta-spectrin. (PubMed id 10849386)1, 9 Carbonnet F....Bertrand O. (2000)
    9. The Kell and XK proteins of the Kell blood group are not co-expressed in the central nervous system. (PubMed id 17379193)1, 9 Claperon A....Ouimet T. (2007)
    10. Immunochemical analysis of the Kx protein from human red cells of different Kell phenotypes using antibodies raised against synthetic peptides. (PubMed id 9074432)1, 9 Carbonnet F....Bertrand O. (1997)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7504 HGNC: 12811 AceView: XK Ensembl:ENSG00000047597 euGenes: HUgn7504
    ECgene: XK H-InvDB: XK

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for XK Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/XK
    SeattleSNPshttp://pga.gs.washington.edu/data/xk/

    (Patent information from GeneIP,
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    Patent Information for XK gene:
    Search GeneIP for patents involving XK

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