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XK Gene

protein-coding   GIFtS: 56

GC0XP037430
X-linked Kx blood group (McLeod syndrome)
(Previous names: Kell blood group precursor (McLeod phenotype), XK, Kell blood group complex subunit (McLeod syndrome) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
KX 2
Kx 1
OTTHUMP00000031911 2
X1k 1, 2
XKR1 1, 2, 3
XRG1 3
Descriptions
Kell blood group precursor (McLeod phenotype) 1, 2
Kell complex 37 kDa component 3
Kx antigen 2, 3
X-linked Kx blood group (McLeod syndrome) 2
XK, Kell blood group complex subunit (McLeod syndrome) 1, 2
XK-related protein 1 2, 3
membrane transport protein XK 2
External Ids
HGNC: 128111
Entrez Gene: 75042
UniProtKB: P518113
Ensembl: ENSG000000475977
Search outside databases for aliases for XK gene

Previous GC identifers: GC0XP035650 GC0XP035832 GC0XP036389 GC0XP036576 GC0XP036575 GC0XP037301

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

EntrezGene 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]

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 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the XK gene  

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)

GeneLoc gene densities for chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP037430:     (about GC identifiers)

Start:
37,430,052 bp from pter
End:
37,476,322 bp from pter
Size:
46,271 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000023.9  NT_079573.3  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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

Post-translational modifications:

  • Not glycosylated1


  • REFSEQ proteins: NP_066569.1  

    ENSEMBL proteins: 
    ENSP00000367879 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (XK)
    Human Recombinant Proteins from Abnova (XK)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    2 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016020 membrane IEA--
    GO:0016021 integral to membrane TAS9647734
    About this table

    Antibodies for XK: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for XK
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (XK), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (XK)
    Novus Biologicals Antibody for XK

    Assays for XK: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

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

    1 InterPro domain/family:
     IPR018629 Membr_transp_prot_XK-like


       GeneDecks  XK for the domains selected above  
    About GeneDecksing

    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 MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (XK)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (XK)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_021083

                  Applied Biosystems Silencer® siRNAs for XK

                  Sigma-Aldrich siRNA for XK  
                         Sigma-Aldrich shRNA for XK  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for XK
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_021083
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_021083
                                     untagged cDNA clone in CMV expression vector: NM_021083 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_021083

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

    2 Gene Ontology (GO) molecular function terms (links to tree view):

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

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


     Gene Network CentralTM Interacting Genes and Proteins Network for  XK 


    5/9 Interacting proteins for XK (ENSP000003678793) via UniProtKB, MINT, and/or STRING (see all 9 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KELENSP000003474093STRING (score=.969)
    CSNK2A1PENSP000003714003STRING (score=.945)
    CYBBENSP000003678513STRING (score=.875)
    XGENSP000003705643STRING (score=.871)
    VPS13AENSP000003534223STRING (score=.838)
    About this table

    2 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810 transport TAS8004674
    GO:0006865 amino acid transport IEA--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for XK
    1 Novoseek chemical compound relationship for XK gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 11.54 2 9593744 (1), 11375401 (1)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (XK)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (XK)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_021083

                  Sigma-Aldrich siRNA for XK  
                         Sigma-Aldrich shRNA for XK  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_021083  

    REFSEQ mRNAs for XK gene: 

    NM_021083.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_021083  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_021083
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_021083
                                     untagged cDNA clone in CMV expression vector: NM_021083 

    Additional cDNA sequence: 

    AY534238.1 BC036019.1 Z32684.2 

    2 DOTS entries:

    DT.408985  DT.65284751 

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

    Z41101 NM_021083 Z45634 AI351187 F08018 AI174882 CK429656 BC036019 
    F05652 CB118001 AI697050 Z44247 F04531 F01908 F03944 BX479653 
    BF445286 BI461092 Z44993 BX503408 BX503409 BX480634 AL120168 BF448142 

    highest scoring ESTs for XK:

    Z32684 AA582923 AI174882 AI351187 AI925004 BC036019 BF445285 BF445286 BF448142 BF448143 

    Unigene Cluster for XK:

    X-linked Kx blood group (McLeod syndrome)
    Hs.78919  [show with all ESTs]
    Unigene Representative Sequence: Z32684


    GeneLoc Exon Structure

    1 Ensembl transcript including schematic representation:
    ENST00000378616  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    XK expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for XK

    1 / 2 / 3

    3 probe-sets matching XK gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    40647_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 Z32684 1.00 1.00 1.00 1

    206698_at2, 3 U133-A 1 1.00 1.00 -- -- NM_021083 0.60 1.00 0.82 1

    206698_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  XK for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: GCACTTGGAA

    SOURCE GeneReport for Unigene cluster: Hs.78919

    Expression variation in blood from EXPOLDB for XK

    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

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for XK gene from 5/8 species (see all 8 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    XK1   -- X-linked Kx blood group (McLeod syndrome) 86.64(n)
    87.39(a)
    491824  XM_548944.2  XP_548944.2 
    chimpanzee
    (Pan troglodytes)
    XK1   -- X-linked Kx blood group (McLeod syndrome) 99.57(n)
    99.74(a)
    473563  XM_528935.2  XP_528935.2 
    cow
    (Bos taurus)
    XK1   -- X-linked Kx blood group (McLeod syndrome) 84.76(n)
    80.44(a)
    539621  XM_588399.3  XP_588399.3 
    rat
    (Rattus norvegicus)
    Xk1   -- X-linked Kx blood group (McLeod syndrome) homolog 81.98(n)
    81.9(a)
    497078  NM_001012227.1  NP_001012227.1 
    mouse
    (Mus musculus)
    Xk1, 5 X (2.60 cM)5
    Kell blood group precursor (McLeod phenotype) homolog1, 5 82.66(n)1
    82.43(a)1
    224391  NM_023500.21  NP_075989.11 
     AF1555115  AK0077345  (see all 13)
    About this table        Species with no ortholog for XK

    ENSEMBL Gene Tree for XK
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for XK gene
    XKRX2  XKR32  XKRY22  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section

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


    10/152 NCBI SNPs in XK are shown (see all 152 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 76)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr X posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs59632621,2
    A,C,F,H37475177(+) ATGTAT/CGTCCA 1 -- ut31 ese36Minor allele frequency- C:0.15EU EA WA NS 512
    rs171461241,2
    C,F,H37473591(+) GAATAG/AAGTTT 1 -- ut31 ese38Minor allele frequency- A:0.06NA NS EU EA 454
    rs22301481,2
    C,F,H37472743(+) GGAACA/TAGGCA 1 -- ut3113Minor allele frequency- T:0.11MN NA EA EU WA NS 877
    rs173121631,2
    C,F,H37476004(+) TTTCGA/TTAAAG 1 -- ut31 ese39Minor allele frequency- T:0.11NA NS EU EA WA 611
    rs171461271,2
    C,F,H37474122(+) CACAGG/AAGAAA 1 -- ut31 ese39Minor allele frequency- A:0.03NA EU EA WA NS 585
    rs289987871,2
    F37474618(+) TGTTTC/TTTCCT 1 -- ut312Minor allele frequency- T:0.05NS 94
    rs289987841,2
    F37473520(+) TTTAGA/GAAACC 1 -- ut312Minor allele frequency- G:0.01NS 70
    rs289987881,2
    F37475547(+) TTAGAC/ATTCCT 1 -- ut312Minor allele frequency- A:0.04NS 94
    rs66105961,2
    H37475415(+) CTTGGT/AGCTTT 1 -- ut314Minor allele frequency- A:0.00EU EA WA 412
    rs66105941,2
    H37474258(+) TTATAG/AAGCCT 1 -- ut314Minor allele frequency- A:0.00EU EA WA 396
    About this table

    HapMap Linkage Disequilibrium images for XK (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 314850

    UniProtKB/Swiss-Prot: XK_HUMAN, P51811

  • Defects in XK are the cause of McLeod syndrome (MLS) [MIM:314850]. It is an X-linked
    multisystem disorder characterized by late onset abnormalities in the neuromuscular and
    hematopoietic systems
  • 9 Novoseek disease relationships for XK gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    neuroacanthocytosis 96.53 7 9268240 (2), 10882128 (1), 11104227 (1), 17277857 (1) (see all 6)
    chorea-acanthocytosis 84.32 1 11761473 (1)
    granulomatous disease chronic 68.73 3 11032622 (1), 17300882 (1), 18167163 (1)
    myopathy 63.59 5 11562915 (2), 1734714 (1), 12823753 (1)
    muscular dystrophy duchenne 53.54 2 11032622 (1), 17300882 (1)
    muscular dystrophies 51.86 1 10791880 (1)
    huntington disease 46.44 1 11761473 (1)
    atrophy 36.28 3 11562915 (1), 17469188 (1)
    cardiomyopathy 26.73 1 9268240 (1)
    About this table

    Blood Group Antigen Gene Mutation Database (BGMUT) Kx blood group system 
    GeneTests: XK
    McLeod Neuroacanthocytosis Syndrome

    Human Gene Mutation Database: XK
    Genetic Association Database: XK

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

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

    10/57 PubMed articles for XK gene (see all 57 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, 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 ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    GeneReviewshttp://www.genetests.org/query?gene=XK
    SeattleSNPshttp://pga.gs.washington.edu/data/xk/
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for XK:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Predesigned and custom siRNAs for XK Antibodies for XK
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for XK Browse small molecules at Sigma-Aldrich
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     Antibodies for XK

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