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    Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein [ Rattus norvegicus (Norway rat) ]

    Gene ID: 497078, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Xkprovided by RGD
    Official Full Name
    X-linked Kx blood group antigen, Kell and VPS13A binding proteinprovided by RGD
    Primary source
    RGD:1359650
    See related
    EnsemblRapid:ENSRNOG00000003749 AllianceGenome:RGD:1359650
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to enable protein-macromolecule adaptor activity. Predicted to be involved in amino acid transport. Predicted to act upstream of or within several processes, including intracellular monoatomic cation homeostasis; regulation of axon diameter; and skeletal muscle fiber development. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in plasma membrane. Human ortholog(s) of this gene implicated in McLeod syndrome and hematopoietic system disease. Orthologous to human XK (X-linked Kx blood group antigen, Kell and VPS13A binding protein). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in Spleen (RPKM 29.4), Muscle (RPKM 26.7) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    Location:
    Xq12
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) X NC_086039.1 (16108913..16145322, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) X NC_051356.1 (13436412..13472830, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) X NC_005120.4 (14497376..14534479)

    Chromosome X - NC_086039.1Genomic Context describing neighboring genes Neighboring gene cytochrome b-245 beta chain Neighboring gene uncharacterized LOC120099348 Neighboring gene uncharacterized LOC102553061 Neighboring gene H2A histone family member L2 like Neighboring gene LanC like family member 3 Neighboring gene DnaJ heat shock protein family (Hsp40) member A1, pseudogene 1 Neighboring gene ferritin heavy chain 1 like 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Influence of polarographic cathode diameter on measured oxygen transmissibility of hydrogel contact lenses with optical power. Fatt I, et al. Optom Vis Sci, 1992 Dec. PMID 1300515
    2. Association of XK and Kell blood group proteins. Russo D, et al. J Biol Chem, 1998 May 29. PMID 9593744
    3. Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein. Ho M, et al. Cell, 1994 Jun 17. PMID 8004674
    4. Giant axon formation in mice lacking Kell, XK, or Kell and XK: animal models of McLeod neuroacanthocytosis syndrome. Zhu X, et al. Am J Pathol, 2014 Mar. PMID 24405768, Free PMC Article
    5. The Kell and XK proteins of the Kell blood group are not co-expressed in the central nervous system. Clapéron A, et al. Brain Res, 2007 May 25. PMID 17379193

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables protein-macromolecule adaptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein-macromolecule adaptor activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein-macromolecule adaptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in amino acid transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in intracellular calcium ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within intracellular calcium ion homeostasis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in intracellular magnesium ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within intracellular magnesium ion homeostasis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in myelination IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within myelination ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of axon diameter IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within regulation of axon diameter ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of cell size IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within regulation of cell size ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in skeletal muscle fiber development IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within skeletal muscle fiber development ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    endoplasmic reticulum membrane adapter protein XK
    Names
    Kell blood group precursor (McLeod phenotype) homolog
    X-linked Kx blood group (McLeod syndrome) homolog
    XK homolog
    XK-related protein 1
    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.

    mRNA and Protein(s)

    1. NM_001012227.4 → NP_001012227.2  endoplasmic reticulum membrane adapter protein XK

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000021
      UniProtKB/Swiss-Prot
      Q5GH61
      UniProtKB/TrEMBL
      F1LP18, Q3B7L3
      Related
      ENSRNOP00000039017.5, ENSRNOT00000051135.7
      Conserved Domains (1) summary
      pfam09815
      Location:6 → 376
      XK-related; XK-related protein

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086039.1 Reference GRCr8

      Range
      16108913..16145322 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039099957.2 → XP_038955885.1  endoplasmic reticulum membrane adapter protein XK isoform X1

      UniProtKB/TrEMBL
      A6KU81
      Conserved Domains (1) summary
      pfam09815
      Location:8 → 268
      XK-related; XK-related protein
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5GH61.1 GenPept UniProtKB/Swiss-Prot:Q5GH61

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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