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XK X-linked Kx blood group antigen, Kell and VPS13A binding protein [ Homo sapiens (human) ]

Gene ID: 7504, updated on 5-Mar-2024

Summary

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Official Symbol
XKprovided by HGNC
Official Full Name
X-linked Kx blood group antigen, Kell and VPS13A binding proteinprovided by HGNC
Primary source
HGNC:HGNC:12811
See related
Ensembl:ENSG00000047597 MIM:314850; AllianceGenome:HGNC:12811
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KX; NA; NAC; X1k; XKR1
Summary
This locus controls the synthesis of the Kell blood group 'precursor substance' (Kx). Mutations in this gene have been associated with McLeod syndrome, an X-linked, recessive disorder characterized by abnormalities in the neuromuscular and hematopoietic systems. The encoded protein has structural characteristics of prokaryotic and eukaryotic membrane transport proteins. [provided by RefSeq, Jul 2008]
Expression
Broad expression in colon (RPKM 3.9), small intestine (RPKM 3.0) and 18 other tissues See more
Orthologs
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Genomic context

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Location:
Xp21.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (37685791..37732130)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (37089348..37135703)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (37545044..37591383)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 47 member D, pseudogene Neighboring gene LanC like family member 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:37544835-37545346 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:37545347-37545856 Neighboring gene H2A.L variant histone 1M, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29518 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20732 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29519 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29520 Neighboring gene cytochrome b-245 beta chain Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20733 Neighboring gene dynein light chain Tctex-type 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. No evidence of hypermutability in red cells from patients with paroxysmal nocturnal hemoglobinuria using the XK gene. Araten DJ, et al. Haematologica, 2014 Aug. PMID 24816235, Free PMC Article
  2. A novel XK gene mutation in a Taiwanese family with McLeod syndrome. Chen PY, et al. J Neurol Sci, 2014 May 15. PMID 24635891
  3. Two McLeod patients with novel mutations in XK. Dubielecka PM, et al. J Neurol Sci, 2011 Jun 15. PMID 21463873, Free PMC Article
  4. Comprehensive analysis of the genes responsible for neuroacanthocytosis in mood disorder and schizophrenia. Shimo H, et al. Neurosci Res, 2011 Mar. PMID 21145924
  5. McLeod Neuroacanthocytosis Syndrome. Adam MP, et al. , 1993. PMID 20301528

See all (40) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A partnership between the lipid scramblase XK and the lipid transfer protein VPS13A at the plasma membrane.
    Title: A partnership between the lipid scramblase XK and the lipid transfer protein VPS13A at the plasma membrane.
  2. XK is a partner for VPS13A: a molecular link between Chorea-Acanthocytosis and McLeod Syndrome.
    Title: XK is a partner for VPS13A: a molecular link between Chorea-Acanthocytosis and McLeod Syndrome.
  3. the expression of KX is critical to normal morphology, and null mutations are associated with the McLeod neuroacanthocytosis syndrome.
    Title: Kell and Kx blood group systems.
  4. The XK gene was not linked to hypermutability in red cells from patients with paroxysmal nocturnal hemoglobinuria.
    Title: No evidence of hypermutability in red cells from patients with paroxysmal nocturnal hemoglobinuria using the XK gene.
  5. study reports the clinical findings and a novel nonsense hemizygous mutation, c.154C>T (p.Gln52X) at exon 1 of XK gene in a Taiwanese family with McLeod syndrome
    Title: A novel XK gene mutation in a Taiwanese family with McLeod syndrome.
  6. Novel XK protein mutations are reported in two patients who exhibit typical clinical characteristics of McLeod syndrome.
    Title: Two McLeod patients with novel mutations in XK.
  7. This study identified one non-synonymous and one intron variant in mood disorder and schizophrenia subjects, respectively, in XK.
    Title: Comprehensive analysis of the genes responsible for neuroacanthocytosis in mood disorder and schizophrenia.
  8. Sequence analysis demonstrated a 5 bp deletion in exon 2 of the XK gene in McLeod syndrome.
    Title: Phenotypic variability of a distinct deletion in McLeod syndrome.
  9. In human cortex, the results show expression of XK in cortical neurons with an apparent cytoplasmic localization.
    Title: The Kell and XK proteins of the Kell blood group are not co-expressed in the central nervous system.
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

Associated conditions

Description Tests
McLeod neuroacanthocytosis syndrome
MedGen: C0398568 OMIM: 300842 GeneReviews: McLeod Neuroacanthocytosis Syndrome
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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

Pathways from PubChem

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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

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein-macromolecule adaptor activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Process Evidence Code Pubs
involved_in amino acid transport IEA
Inferred from Electronic Annotation
more info
  
involved_in intracellular calcium ion homeostasis IEA
Inferred from Electronic Annotation
more info
  
involved_in intracellular magnesium ion homeostasis IEA
Inferred from Electronic Annotation
more info
  
involved_in myelination IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of axon diameter IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of cell size IEA
Inferred from Electronic Annotation
more info
  
involved_in skeletal muscle fiber development IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane TAS
Traceable Author Statement
more info
 PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
endoplasmic reticulum membrane adapter protein XK
Names
Kell blood group precursor (McLeod phenotype)
Kx antigen
Kx blood group antigen
XK, Kell blood group complex subunit (McLeod syndrome)
XK-related protein 1
kell complex 37 kDa component
membrane transport protein XK

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.

Genomic

  1. NG_007473.3 RefSeqGene

    Range
    4912..51251
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_812

mRNA and Protein(s)

  1. NM_021083.4 → NP_066569.1  endoplasmic reticulum membrane adapter protein XK

    See identical proteins and their annotated locations for NP_066569.1

    Status: REVIEWED

    Source sequence(s)
    AY534238, Z32684
    Consensus CDS
    CCDS14241.1
    UniProtKB/Swiss-Prot
    P51811, Q4TTN6, Q8IUK6, Q9UC77
    Related
    ENSP00000367879.3, ENST00000378616.5
    Conserved Domains (1) summary
    pfam09815
    Location:6 → 376
    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_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    37685791..37732130
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543978.4 → XP_011542280.1  endoplasmic reticulum membrane adapter protein XK isoform X1

    Conserved Domains (1) summary
    pfam09815
    Location:6 → 169
    XK-related; XK-related protein

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    37089348..37135703
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054327716.1 → XP_054183691.1  endoplasmic reticulum membrane adapter protein XK isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P51811.5 GenPept UniProtKB/Swiss-Prot:P51811

Gene LinkOut

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