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    XK X-linked Kx blood group antigen, Kell and VPS13A binding protein [ Homo sapiens (human) ]

    Gene ID: 7504, updated on 27-Nov-2024

    Summary

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    Official Symbol
    XKprovided by HGNC
    Official Full Name
    X-linked Kx blood group antigen, Kell and VPS13A binding proteinprovided by HGNC
    Primary source
    HGNC:HGNC:12811
    See related
    Ensembl:ENSG00000047597 MIM:314850; AllianceGenome:HGNC:12811
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KX; NA; NAC; X1k; XKR1
    Summary
    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]
    Expression
    Broad expression in colon (RPKM 3.9), small intestine (RPKM 3.0) and 18 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    Xp21.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (37685791..37732130)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (37089348..37135703)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (37545044..37591383)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 47 member D, pseudogene Neighboring gene LanC like family member 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:37544835-37545346 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:37545347-37545856 Neighboring gene H2A.L variant histone 1M, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29518 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20732 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29519 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29520 Neighboring gene cytochrome b-245 beta chain Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20733 Neighboring gene dynein light chain Tctex-type 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Immunochemical analysis of the Kx protein from human red cells of different Kell phenotypes using antibodies raised against synthetic peptides. Carbonnet F, et al. Br J Haematol, 1997 Mar. PMID 9074432
    2. Point mutations causing the McLeod phenotype. Russo DC, et al. Transfusion, 2002 Mar. PMID 11961232
    3. McLeod neuroacanthocytosis: genotype and phenotype. Danek A, et al. Ann Neurol, 2001 Dec. PMID 11761473
    4. A spontaneous novel XK gene mutation in a patient with McLeod syndrome. Supple SG, et al. Br J Haematol, 2001 Nov. PMID 11703337
    5. McLeod phenotype associated with a XK missense mutation without hematologic, neuromuscular, or cerebral involvement. Jung HH, et al. Transfusion, 2003 Jul. PMID 12823753

    See all (41) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical Features and Novel Pathogenic Variants of Chinese Patients With McLeod Syndrome and Chorea-Acanthocytosis.
      Title: Clinical Features and Novel Pathogenic Variants of Chinese Patients With McLeod Syndrome and Chorea-Acanthocytosis.
    2. A partnership between the lipid scramblase XK and the lipid transfer protein VPS13A at the plasma membrane.
      Title: A partnership between the lipid scramblase XK and the lipid transfer protein VPS13A at the plasma membrane.
    3. XK is a partner for VPS13A: a molecular link between Chorea-Acanthocytosis and McLeod Syndrome.
      Title: XK is a partner for VPS13A: a molecular link between Chorea-Acanthocytosis and McLeod Syndrome.
    4. the expression of KX is critical to normal morphology, and null mutations are associated with the McLeod neuroacanthocytosis syndrome.
      Title: Kell and Kx blood group systems.
    5. The XK gene was not linked to hypermutability in red cells from patients with paroxysmal nocturnal hemoglobinuria.
      Title: No evidence of hypermutability in red cells from patients with paroxysmal nocturnal hemoglobinuria using the XK gene.
    6. study reports the clinical findings and a novel nonsense hemizygous mutation, c.154C>T (p.Gln52X) at exon 1 of XK gene in a Taiwanese family with McLeod syndrome
      Title: A novel XK gene mutation in a Taiwanese family with McLeod syndrome.
    7. Novel XK protein mutations are reported in two patients who exhibit typical clinical characteristics of McLeod syndrome.
      Title: Two McLeod patients with novel mutations in XK.
    8. This study identified one non-synonymous and one intron variant in mood disorder and schizophrenia subjects, respectively, in XK.
      Title: Comprehensive analysis of the genes responsible for neuroacanthocytosis in mood disorder and schizophrenia.
    9. Sequence analysis demonstrated a 5 bp deletion in exon 2 of the XK gene in McLeod syndrome.
      Title: Phenotypic variability of a distinct deletion in McLeod syndrome.
    10. In human cortex, the results show expression of XK in cortical neurons with an apparent cytoplasmic localization.
      Title: The Kell and XK proteins of the Kell blood group are not co-expressed in the central nervous system.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    McLeod neuroacanthocytosis syndrome
    MedGen: C0398568 OMIM: 300842 GeneReviews: McLeod Neuroacanthocytosis Syndrome
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-macromolecule adaptor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in amino acid transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intracellular calcium ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intracellular magnesium ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in myelination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of axon diameter IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of cell size IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in skeletal muscle fiber development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    endoplasmic reticulum membrane adapter protein XK
    Names
    Kell blood group precursor (McLeod phenotype)
    Kx antigen
    Kx blood group antigen
    XK, Kell blood group complex subunit (McLeod syndrome)
    XK-related protein 1
    kell complex 37 kDa component
    membrane transport protein XK

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007473.3 RefSeqGene

      Range
      4912..51251
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_812

    mRNA and Protein(s)

    1. NM_021083.4 → NP_066569.1  endoplasmic reticulum membrane adapter protein XK

      See identical proteins and their annotated locations for NP_066569.1

      Status: REVIEWED

      Source sequence(s)
      AY534238, Z32684
      Consensus CDS
      CCDS14241.1
      UniProtKB/Swiss-Prot
      P51811, Q4TTN6, Q8IUK6, Q9UC77
      Related
      ENSP00000367879.3, ENST00000378616.5
      Conserved Domains (1) summary
      pfam09815
      Location:6 → 376
      XK-related; XK-related protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      37685791..37732130
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011543978.4 → XP_011542280.1  endoplasmic reticulum membrane adapter protein XK isoform X1

      Conserved Domains (1) summary
      pfam09815
      Location:6 → 169
      XK-related; XK-related protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      37089348..37135703
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327716.1 → XP_054183691.1  endoplasmic reticulum membrane adapter protein XK isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P51811.5 GenPept UniProtKB/Swiss-Prot:P51811

    Gene LinkOut

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