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XKR5 XK related 5 [ Homo sapiens (human) ]

Gene ID: 389610, updated on 12-Sep-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
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Genomic context

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Location:
8p23.1
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (6808517..6835524, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (6563754..6590758, complement)
RS_2024_09 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 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)

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
    UniProtKB/TrEMBL
    A0AAG2TK60
    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_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
    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

    UniProtKB/TrEMBL
    A0AAG2TK60

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

    UniProtKB/TrEMBL
    A0AAG2TK60

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

    UniProtKB/TrEMBL
    A0AAG2TK60

  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

    UniProtKB/TrEMBL
    A0AAG2TK60

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

    UniProtKB/TrEMBL
    A0AAG2TK60

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

    UniProtKB/TrEMBL
    A0AAG2TK60

  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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Chemical Information
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Research Materials