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    XKR5 XK related 5 [ Homo sapiens (human) ]

    Gene ID: 389610, updated on 5-Mar-2024

    Summary

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    Official Symbol
    XKR5provided by HGNC
    Official Full Name
    XK related 5provided by HGNC
    Primary source
    HGNC:HGNC:20782
    See related
    Ensembl:ENSG00000275591 AllianceGenome:HGNC:20782
    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
    XRG5A; XRG5BM; UNQ2754; HARL2754
    Summary
    Predicted to be involved in apoptotic process involved in development; engulfment of apoptotic cell; and 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
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    8p23.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (6808517..6835524, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (6563754..6590758, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (6666038..6693046, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901872 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18887 Neighboring gene uncharacterized LOC107986909 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:6662895-6663395 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:6669173-6669672 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:6691428-6692296 Neighboring gene uncharacterized LOC100652791 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:6698341-6698918 Neighboring gene defensin beta 1

    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
    • 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 secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article
    2. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, Free PMC Article
    3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    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
    		  
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    XK-related protein 5
    Names
    X Kell blood group precursor-related family, member 5
    X-linked Kx blood group related 5
    XK, Kell blood group complex subunit-related family, member 5
    XK-related protein 5a

    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_001289973.2 → NP_001276902.1  XK-related protein 5 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in its 5' UTR and initiates translation from a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a.
      Source sequence(s)
      AF233439, AY534242, AY534243
      UniProtKB/Swiss-Prot
      Q6UX68
      Conserved Domains (1) summary
      pfam09815
      Location:3 → 158
      XK-related; XK-related protein

    2. NM_207411.5 → NP_997294.3  XK-related protein 5 isoform a

      See identical proteins and their annotated locations for NP_997294.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer isoform (a).
      Source sequence(s)
      AY534242, AY534243
      Consensus CDS
      CCDS47763.2
      UniProtKB/Swiss-Prot
      A0A087X143, A0A096LPC1, Q5GH74, Q6UX68
      Related
      ENSP00000483879.1, ENST00000618742.3
      Conserved Domains (1) summary
      pfam09815
      Location:5 → 321
      XK-related; XK-related protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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
      6808517..6835524 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654717.1 Reference GRCh38.p14 PATCHES

      Range
      203788..230788 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332243.1 → XP_054188218.1  XK-related protein 5 isoform X3

    2. XM_054332242.1 → XP_054188217.1  XK-related protein 5 isoform X2

    3. XM_054332241.1 → XP_054188216.1  XK-related protein 5 isoform X1

    4. XM_054332244.1 → XP_054188219.1  XK-related protein 5 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      6563754..6590758 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360449.1 → XP_054216424.1  XK-related protein 5 isoform X7

    2. XM_054360448.1 → XP_054216423.1  XK-related protein 5 isoform X6

    3. XM_054360447.1 → XP_054216422.1  XK-related protein 5 isoform X5

    4. XM_054360450.1 → XP_054216425.1  XK-related protein 5 isoform X8

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UX68.2 GenPept UniProtKB/Swiss-Prot:Q6UX68

    Gene LinkOut

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