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    XKR8 XK related 8 [ Homo sapiens (human) ]

    Gene ID: 55113, updated on 10-Dec-2024

    Summary

    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
    NEW
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    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    General gene information

    Clone Names

    • FLJ10307

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in perinuclear region of cytoplasm  
    is_active_in plasma membrane  
    located_in plasma membrane PubMed 

    General protein information

    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)

    NEW Try the new Transcript table

    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_018053.4NP_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:18344
      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_011541679.4XP_011539981.1  XK-related protein 8 isoform X1

      Conserved Domains (1) summary
      pfam09815
      Location:218398
      XK-related; XK-related protein
    2. XM_047423826.1XP_047279782.1  XK-related protein 8 isoform X3

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

      Conserved Domains (1) summary
      pfam09815
      Location:182362
      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_054337329.1XP_054193304.1  XK-related protein 8 isoform X4

      UniProtKB/TrEMBL
      A0A6Q8PH47
    2. XM_054337326.1XP_054193301.1  XK-related protein 8 isoform X1

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

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

    RNA

    1. XR_008486084.1 RNA Sequence

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