Xk X-linked Kx blood group [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Xkprovided by MGI
Official Full Name: X-linked Kx blood groupprovided by MGI
Primary source: MGI:MGI:103569
See related: Ensembl:ENSMUSG00000015342 AllianceGenome:MGI:103569
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Xkh; XRG1; 1810038K19Rik
Summary: Predicted to enable protein-macromolecule adaptor activity. Acts upstream of or within several processes, including intracellular monoatomic cation homeostasis; regulation of axon diameter; and skeletal muscle fiber development. Is active in plasma membrane. Is expressed in genitourinary system; gonadal fat pad; gut; liver; and mammary gland. Human ortholog(s) of this gene implicated in McLeod syndrome and hematopoietic system disease. Orthologous to human XK (X-linked Kx blood group antigen, Kell and VPS13A binding protein). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in liver E14.5 (RPKM 13.7), liver E14 (RPKM 12.9) and 22 other tissues See more
Orthologs: human all
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Genomic context

Location:: X A1.1; X 4.22 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (9139023..9179484)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (9272784..9313245)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Impaired XK recycling for importing manganese underlies striatal vulnerability in Huntington's disease.
Title: Impaired XK recycling for importing manganese underlies striatal vulnerability in Huntington's disease.
A hemizygous single base-pair frameshift deletion at exon 1 in the XK gene was found in a patient with McLeod syndrome.
Title: Novel single base-pair deletion in exon 1 of XK gene leading to McLeod syndrome with chorea, muscle wasting, peripheral neuropathy, acanthocytosis and haemolysis.
Absence of Xk was accompanied by changes in erythrocyte K(+), Mg(2+), Na(+) & Ca(2+) transport associated with changes in mean cellular volume & corpuscular hemoglobin concentration mean. Xk deletion blocked Na/Mg exchanger activity.
Title: Ablation of the Kell/Xk complex alters erythrocyte divalent cation homeostasis.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:494167

DXMit136 (e-PCR), detects polymorphism
- UniSTS:132026

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein-macromolecule adaptor activity	ISO Inferred from Sequence Orthology more info
enables protein-macromolecule adaptor activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in amino acid transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within intracellular calcium ion homeostasis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within intracellular magnesium ion homeostasis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within myelination	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of axon diameter	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of cell size	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within skeletal muscle fiber development	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: endoplasmic reticulum membrane adapter protein XK

Names: Kell blood group precursor (McLeod phenotype) homolog; McLeod syndrome gene homolog; XK homolog; XK-related protein 1; 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.