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    XKR4 XK related 4 [ Homo sapiens (human) ]

    Gene ID: 114786, updated on 18-Sep-2024

    Summary

    Official Symbol
    XKR4provided by HGNC
    Official Full Name
    XK related 4provided by HGNC
    Primary source
    HGNC:HGNC:29394
    See related
    Ensembl:ENSG00000206579 AllianceGenome:HGNC:29394
    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
    XRG4; hXKR4
    Summary
    Enables phospholipid scramblase activity. Involved in phosphatidylserine exposure on apoptotic cell surface. Predicted to be integral component of membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in brain (RPKM 2.2), colon (RPKM 0.4) and 8 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See XKR4 in Genome Data Viewer
    Location:
    8q12.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (55102028..55542054)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (55479588..55919328)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (56014588..56454613)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene RP1 axonemal microtubule associated Neighboring gene uncharacterized LOC105375842 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:55787756-55788338 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:55795336-55796119 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:55809304-55810503 Neighboring gene MPRA-validated peak7023 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:55923506-55924006 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:55962859-55963358 Neighboring gene uncharacterized LOC107986887 Neighboring gene uncharacterized LOC107986886 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:55991285-55992111 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19200 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:56014243-56014910 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:56015579-56016244 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:56040789-56041681 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:56054033-56054534 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:56054535-56055034 Neighboring gene uncharacterized LOC105375844 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:56082878-56083063 Neighboring gene Sharpr-MPRA regulatory region 131 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:56170973-56172172 Neighboring gene NANOG hESC enhancer GRCh37_chr8:56226088-56226589 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:56276417-56277111 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:56277806-56278500 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:56280453-56280954 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:56285663-56286288 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:56285036-56285662 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:56366282-56366665 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27373 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27374 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27375 Neighboring gene SET binding factor 1 pseudogene 1 Neighboring gene XKR4 antisense RNA 1 Neighboring gene uncharacterized LOC105375845 Neighboring gene uncharacterized LOC105375846

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
    EBI GWAS Catalog
    Genome-wide association study identifies a novel susceptibility gene for serum TSH levels in Chinese populations.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of XK, Kell blood group complex subunit-related family, member 4 (XKR4) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA1889

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phospholipid scramblase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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 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 
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    XK-related protein 4
    Names
    X Kell blood group precursor-related family, member 4
    X-linked Kx blood group related 4
    XK, Kell blood group complex subunit-related family, member 4

    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_052898.2NP_443130.1  XK-related protein 4

      See identical proteins and their annotated locations for NP_443130.1

      Status: VALIDATED

      Source sequence(s)
      AC022679, AC090200, AY534241
      Consensus CDS
      CCDS34893.1
      UniProtKB/Swiss-Prot
      Q5GH76, Q96PZ8
      Related
      ENSP00000328326.5, ENST00000327381.7
      Conserved Domains (1) summary
      pfam09815
      Location:117516
      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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      55102028..55542054
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      55479588..55919328
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)