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XKR3 XK related 3 [ Homo sapiens (human) ]

Gene ID: 150165, updated on 5-Mar-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (16783480..16825411, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (17460159..17502102, complement)
105.20220307 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: 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. 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)

Genotypes

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_2023_10

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

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