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
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Aliases & Descriptions for XK
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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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
Search outside databases for aliases for XK genePrevious GC identifers: GC0XP035650 GC0XP035832 GC0XP036389 GC0XP036576 GC0XP036575 GC0XP037301
Summaries for XK (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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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 disordercharacterized by abnormalities in the neuromuscular and hematopoietic systems. The encoded proteinhas 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
Genomic Location for XK
(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
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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 Proteins for XK
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
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 )
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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 Origene for full length recombinant human proteins expressed in human HEK293 cells 2 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for XK: Assays for XK:
Protein
Domains/ Families for XK(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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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
Gene Function for XK
(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 .)
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              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               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) :
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Pathways & Interactions for XK
(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 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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Gene Network CentralTM Interacting Genes and Proteins Network for XK 5/9 Interacting proteins for XK (ENSP00000367879 3 ) via UniProtKB, MINT, and/or STRING (see all 9
)About this table 2 Gene Ontology (GO) biological process terms (links to tree view) :
About this table
Drugs & Compounds for XK (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 )
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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)
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Transcripts for XK(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 ,
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              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
Expression for XK
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
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
)
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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 Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: GCACTTGGAASOURCE 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 inplacenta, lung, liver, and kidney
Orthologs for XK
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for XK gene from 5/8 species (see all 8
)
About this table Species with no ortholog for XK ENSEMBL Gene Tree for XK Paralogs for XK (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for XK gene XKRX 2 XKR3 2 XKRY2 2
SNPs/Variants for XK (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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UniProtKB/Swiss-Prot: XK_HUMAN, P51811 Polymorphism : XK is responsible for the Kx blood group system
HapMap Linkage Disequilibrium images for XK (up to first 250kb)
Disorders & Mutations for XK
(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 .)
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OMIM: 314850 UniProtKB/Swiss-Prot: XK_HUMAN, P51811
Defects in XK are the cause of McLeod syndrome (MLS) [MIM:314850]. It is an X-linkedmultisystem disorder characterized by late onset abnormalities in the neuromuscular andhematopoietic systems
9 Novoseek disease relationships for XK gene
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
Medical News for XK (Possibly Related Articles in
Doctor's Guide )
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--
Publications for XK (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/57 PubMed articles for XK gene (see all 57
): McLeod phenotype associated with a XK missense mutation without hematologic, neuromuscular, or cerebral involvement. (PubMed id 12823753) 1, 3, 4, 6 Jung H.H.... Frey B.M. (2003) Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein. (PubMed id 8004674) 2, 3, 4 Ho M.... Monaco A.P. (1994) Association of XK and Kell blood group proteins. (PubMed id 9593744) 1, 3, 4 Russo D....Lee S. (1998) Purification and partial characterization of the erythrocyte Kx protein deficient in McLeod patients. (PubMed id 7737196) 1, 3, 4 Khamlichi S....Bertrand O. (1995) McLeod neuroacanthocytosis: genotype and phenotype. (PubMed id 11761473) 1, 3, 4 Danek A.... Monaco A.P. (2001) Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983) 3, 4 Olsen J.V....Mann M. (2006) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) Point mutations causing the McLeod phenotype. (PubMed id 11961232) 3, 4 Russo D.C.... Redman C.M. (2002) A murine monoclonal antibody against Kx protein which reacts also with beta-spectrin. (PubMed id 10849386) 1, 3 Carbonnet F....Bertrand O. (2000) The Kell and XK proteins of the Kell blood group are not co-expressed in the central nervous system. (PubMed id 17379193) 1, 3 Claperon A....Ouimet T. (2007)
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Genome Databases showing XK
(According to
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euGenes ,
Ensembl ,
miRBase ,
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and/or
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Other Databases showing XK
(According to HUGE )
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--
Specialized Databases showing XK (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
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Name Description
GeneReviews http://www.genetests.org/query?gene=XK SeattleSNPs http://pga.gs.washington.edu/data/xk/
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-- Services for XK (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
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Products for XK:
Recombinant Proteins (XK ) Antibodies (XK )
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