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    XKR8 XK related 8 [ Homo sapiens (human) ]

    Gene ID: 55113, updated on 2-Nov-2024

    Summary

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    Official Symbol
    XKR8provided by HGNC
    Official Full Name
    XK related 8provided by HGNC
    Primary source
    HGNC:HGNC:25508
    See related
    Ensembl:ENSG00000158156 MIM:619940; AllianceGenome:HGNC:25508
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    XRG8; hXkr8
    Summary
    Enables phospholipid scramblase activity. Involved in engulfment of apoptotic cell; phosphatidylserine exposure on apoptotic cell surface; and positive regulation of myoblast differentiation. Located in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in placenta (RPKM 5.8), bone marrow (RPKM 5.1) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See XKR8 in Genome Data Viewer
    Location:
    1p35.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (27959973..27968093)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (27801810..27809927)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (28286484..28294604)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene replication protein A2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:28240839-28241343 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:28261145-28262046 Neighboring gene Sharpr-MPRA regulatory region 12823 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:28269804-28270304 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:28270305-28270805 Neighboring gene sphingomyelin phosphodiesterase acid like 3B Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:28286425-28286988 Neighboring gene MPRA-validated peak136 silencer Neighboring gene EYA transcriptional coactivator and phosphatase 3 Neighboring gene RNA, 7SL, cytoplasmic 559, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 580 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 581 Neighboring gene signal peptidase complex subunit 2 pseudogene 4

    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 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. The role of the C-terminal tail region as a plug to regulate XKR8 lipid scramblase. Sakuragi T, et al. J Biol Chem, 2024 Mar. PMID 38364890, Free PMC Article
    2. The tertiary structure of the human Xkr8-Basigin complex that scrambles phospholipids at plasma membranes. Sakuragi T, et al. Nat Struct Mol Biol, 2021 Oct. PMID 34625749, Free PMC Article
    3. Xk-related protein 8 regulates myoblast differentiation and survival. Kim GW, et al. FEBS J, 2017 Nov. PMID 28881496
    4. Getting to the Outer Leaflet: Physiology of Phosphatidylserine Exposure at the Plasma Membrane. Bevers EM, et al. Physiol Rev, 2016 Apr. PMID 26936867
    5. Xkr8 phospholipid scrambling complex in apoptotic phosphatidylserine exposure. Suzuki J, et al. Proc Natl Acad Sci U S A, 2016 Aug 23. PMID 27503893, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The role of the C-terminal tail region as a plug to regulate XKR8 lipid scramblase.
      Title: The role of the C-terminal tail region as a plug to regulate XKR8 lipid scramblase.
    2. The tertiary structure of the human Xkr8-Basigin complex that scrambles phospholipids at plasma membranes.
      Title: The tertiary structure of the human Xkr8-Basigin complex that scrambles phospholipids at plasma membranes.
    3. Xkr8-BSG/NPTN complex is required for phosphatidylserine scrambling in apoptotic cell membranes.
      Title: Xkr8 phospholipid scrambling complex in apoptotic phosphatidylserine exposure.
    4. The Xkr8 influences myogenesis by acting as a positive regulator of terminal differentiation and myoblast survival.
      Title: Xk-related protein 8 regulates myoblast differentiation and survival.
    5. facilitates transbilayer migration of lipids [review]
      Title: Getting to the Outer Leaflet: Physiology of Phosphatidylserine Exposure at the Plasma Membrane.
    6. findings show the Xk-family protein Xkr8 mediates phosphatidylserine exposure in response to apoptotic stimuli; Xk-family proteins have evolutionarily conserved roles in promoting phagocytosis of dying cells by altering the phospholipid distribution in the plasma membrane
      Title: Xk-related protein 8 and CED-8 promote phosphatidylserine exposure in apoptotic cells.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10307

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phospholipid scramblase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phospholipid scramblase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in apoptotic process involved in development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in engulfment of apoptotic cell IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in engulfment of apoptotic cell IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in establishment of localization in cell IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neutrophil clearance ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in phosphatidylserine exposure on apoptotic cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in phosphatidylserine exposure on apoptotic cell surface IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in phosphatidylserine exposure on apoptotic cell surface ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of myoblast differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in tolerance induction to self antigen IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    XK-related protein 8
    Names
    X Kell blood group precursor-related family, member 8
    X-linked Kx blood group related 8
    XK, Kell blood group complex subunit-related family, member 8

    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_018053.4 → NP_060523.2  XK-related protein 8

      See identical proteins and their annotated locations for NP_060523.2

      Status: VALIDATED

      Source sequence(s)
      AL512288
      Consensus CDS
      CCDS315.1
      UniProtKB/Swiss-Prot
      Q9H6D3
      Related
      ENSP00000362991.5, ENST00000373884.6
      Conserved Domains (1) summary
      pfam09815
      Location:18 → 344
      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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      27959973..27968093
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011541679.4 → XP_011539981.1  XK-related protein 8 isoform X1

      Conserved Domains (1) summary
      pfam09815
      Location:218 → 398
      XK-related; XK-related protein

    2. XM_047423826.1 → XP_047279782.1  XK-related protein 8 isoform X3

    3. XM_011541680.4 → XP_011539982.1  XK-related protein 8 isoform X2

      Conserved Domains (1) summary
      pfam09815
      Location:182 → 362
      XK-related; XK-related protein

    RNA

    1. XR_007061341.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      27801810..27809927
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337329.1 → XP_054193304.1  XK-related protein 8 isoform X4

      UniProtKB/TrEMBL
      A0A6Q8PH47

    2. XM_054337326.1 → XP_054193301.1  XK-related protein 8 isoform X1

    3. XM_054337328.1 → XP_054193303.1  XK-related protein 8 isoform X3

    4. XM_054337327.1 → XP_054193302.1  XK-related protein 8 isoform X2

    RNA

    1. XR_008486084.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H6D3.1 GenPept UniProtKB/Swiss-Prot:Q9H6D3

    Gene LinkOut

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