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XKR8 XK related 8 [ Homo sapiens (human) ]

Gene ID: 55113, updated on 10-Dec-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, Dec 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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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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