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    XKR3 XK related 3 [ Homo sapiens (human) ]

    Gene ID: 150165, updated on 10-Dec-2024

    Summary

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    Official Symbol
    XKR3provided by HGNC
    Official Full Name
    XK related 3provided by HGNC
    Primary source
    HGNC:HGNC:28778
    See related
    Ensembl:ENSG00000172967 MIM:611674; AllianceGenome:HGNC:28778
    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
    XRG3; XTES
    Summary
    XKRX (MIM 300684) and XKR3 are homologs of the Kell blood group precursor XK (MIM 314850), which is a putative membrane transporter and a component of the XK/Kell complex of the Kell blood group system (Calenda et al., 2006 [PubMed 16431037]).[supplied by OMIM, Mar 2008]
    Expression
    Restricted expression toward testis (RPKM 3.4) See more
    Orthologs
    all
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    Genomic context

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    See XKR3 in Genome Data Viewer
    Location:
    22q11.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (16783480..16825411, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (17460159..17502102, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (17264370..17306301, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr22:17177994-17178151 Neighboring gene von Willebrand factor pseudogene 1 Neighboring gene MPRA-validated peak4439 silencer Neighboring gene long intergenic non-protein coding RNA 1665 Neighboring gene HSFY1 pseudogene 1 Neighboring gene glycoprotein M6B pseudogene 3

    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. NUP214 fusion genes in acute leukemia (Review). Zhou MH, et al. Oncol Lett, 2014 Sep. PMID 25120641, Free PMC Article
    2. Targeted next-generation sequencing of a cancer transcriptome enhances detection of sequence variants and novel fusion transcripts. Levin JZ, et al. Genome Biol, 2009. PMID 19835606, Free PMC Article
    3. Identification of two new members, XPLAC and XTES, of the XK family. Calenda G, et al. Gene, 2006 Mar 29. PMID 16431037
    4. Robust, high-throughput solution for blood group genotyping. Le Goff GC, et al. Anal Chem, 2010 Jul 15. PMID 20560530
    5. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of genetic testing. (HuGE Navigator)
      Title: Robust, high-throughput solution for blood group genotyping.
    2. XPLAC is expressed mostly in placenta and adrenal gland while XTES is exclusively expressed in primate testis
      Title: Identification of two new members, XPLAC and XTES, of the XK family.
    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

    • MGC57211

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    XK-related protein 3
    Names
    X Kell blood group precursor-related family, member 3
    X-linked Kx blood group related 3
    XK, Kell blood group complex subunit-related family, member 3
    expressed in testis
    x Kell blood group-related 3

    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_001318251.3 → NP_001305180.1  XK-related protein 3

      Status: VALIDATED

      Source sequence(s)
      AC005301, AC007064
      Consensus CDS
      CCDS42975.1
      UniProtKB/Swiss-Prot
      B2RPN1, Q52PG8, Q5GH77, Q8N7E1
      UniProtKB/TrEMBL
      B7ZMN2
      Conserved Domains (1) summary
      pfam09815
      Location:35 → 402
      XK-related; XK-related protein

    2. NM_001386955.1 → NP_001373884.1  XK-related protein 3

      Status: VALIDATED

      Source sequence(s)
      AC005301, AC007064
      Consensus CDS
      CCDS42975.1
      UniProtKB/Swiss-Prot
      B2RPN1, Q52PG8, Q5GH77, Q8N7E1
      UniProtKB/TrEMBL
      B7ZMN2
      Related
      ENSP00000507478.1, ENST00000684488.1
      Conserved Domains (1) summary
      pfam09815
      Location:35 → 402
      XK-related; XK-related protein

    3. NM_001386956.1 → NP_001373885.1  XK-related protein 3

      Status: VALIDATED

      Source sequence(s)
      AC005301, AC007064
      Consensus CDS
      CCDS42975.1
      UniProtKB/Swiss-Prot
      B2RPN1, Q52PG8, Q5GH77, Q8N7E1
      UniProtKB/TrEMBL
      B7ZMN2
      Conserved Domains (1) summary
      pfam09815
      Location:35 → 402
      XK-related; XK-related protein

    4. NM_001386957.1 → NP_001373886.1  XK-related protein 3

      Status: VALIDATED

      Source sequence(s)
      AC005301, AC007064
      Consensus CDS
      CCDS42975.1
      UniProtKB/Swiss-Prot
      B2RPN1, Q52PG8, Q5GH77, Q8N7E1
      UniProtKB/TrEMBL
      B7ZMN2
      Conserved Domains (1) summary
      pfam09815
      Location:35 → 402
      XK-related; XK-related protein

    5. NM_175878.5 → NP_787074.2  XK-related protein 3

      See identical proteins and their annotated locations for NP_787074.2

      Status: VALIDATED

      Source sequence(s)
      AC005301, AC007064
      Consensus CDS
      CCDS42975.1
      UniProtKB/Swiss-Prot
      B2RPN1, Q52PG8, Q5GH77, Q8N7E1
      UniProtKB/TrEMBL
      B7ZMN2
      Related
      ENSP00000331704.5, ENST00000331428.5
      Conserved Domains (1) summary
      pfam09815
      Location:35 → 402
      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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      16783480..16825411 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441151.1 → XP_047297107.1  XK-related protein 3 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      17460159..17502102 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325121.1 → XP_054181096.1  XK-related protein 3 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5GH77.1 GenPept UniProtKB/Swiss-Prot:Q5GH77

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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