Xkr8 X-linked Kx blood group related 8 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Xkr8provided by MGI
Official Full Name: X-linked Kx blood group related 8provided by MGI
Primary source: MGI:MGI:2685877
See related: Ensembl:ENSMUSG00000037752 AllianceGenome:MGI:2685877
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: XRG8; mXkr8; Gm1031; 4931440N07Rik
Summary: Enables phospholipid scramblase activity. Involved in apoptotic cell clearance; phosphatidylserine exposure on apoptotic cell surface; and positive regulation of myoblast differentiation. Acts upstream of or within establishment of localization in cell and tolerance induction to self antigen. Is active in plasma membrane. Orthologous to human XKR8 (XK related 8). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in testis adult (RPKM 36.0), ovary adult (RPKM 3.3) and 7 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 D2.3; 4 65.81 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (132452212..132459916, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (132724901..132732614, complement)

Chromosome 4 - NC_000070.7 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?

A dominant variant in apoptosis-related gene XKR8 is relevant to hereditary auditory neuropathy.
Title: A dominant variant in apoptosis-related gene XKR8 is relevant to hereditary auditory neuropathy.
Xkr8 (-/-) male mice were infertile due to reduced sperm counts in their epididymides.
Title: Infertility Caused by Inefficient Apoptotic Germ Cell Clearance in Xkr8-Deficient Male Mice.
These results indicate that PtdSer exposure can be increased by the phosphorylation-mediated activation of Xkr8 scramblase and flippase down-regulation.
Title: Phosphorylation-mediated activation of mouse Xkr8 scramblase for phosphatidylserine exposure.
These results indicate that the Xkr8-mediated PtdSer exposure in apoptotic lymphocytes and aged neutrophils is essential for their clearance, and its defect activates the immune system, leading to lupus-like autoimmune disease.
Title: Lupus-like autoimmune disease caused by a lack of Xkr8, a caspase-dependent phospholipid scramblase.
The Xkr8 influences myogenesis by acting as a positive regulator of terminal differentiation and myoblast survival.
Title: Xk-related protein 8 regulates myoblast differentiation and survival.
Unlike Xkr8, which is ubiquitously expressed, Xkr4 and Xkr9 expression is tissue-specific.
Title: Exposure of phosphatidylserine by Xk-related protein family members during apoptosis.
findings show the Xk-family protein Xkr8 mediates phosphatidylserine exposure in response to apoptotic stimuli; Xk-family proteins have evolutionarily conserved roles in promoting phagocytosis of dying cells by altering the phospholipid distribution in the plasma membrane
Title: Xk-related protein 8 and CED-8 promote phosphatidylserine exposure in apoptotic cells.

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Variation

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Alleles

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

Endonuclease-mediated (2)
Gene trapped (1)
Targeted (2) 1 citation

General gene information

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Markers

NoName (e-PCR)
- UniSTS:235048

AU045240 (e-PCR)
- UniSTS:159301

D1S3689 (e-PCR)
- UniSTS:474267

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables phospholipid scramblase activity	IDA Inferred from Direct Assay more info	PubMed
enables phospholipid scramblase activity	ISO Inferred from Sequence Orthology more info
enables phospholipid scramblase activity	ISS Inferred from Sequence or Structural Similarity more info

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 engulfment of apoptotic cell	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in engulfment of apoptotic cell	ISO Inferred from Sequence Orthology more info
involved_in engulfment of apoptotic cell	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within establishment of localization in cell	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neutrophil clearance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phosphatidylserine exposure on apoptotic cell surface	IBA Inferred from Biological aspect of Ancestor more info
involved_in phosphatidylserine exposure on apoptotic cell surface	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within phosphatidylserine exposure on apoptotic cell surface	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phosphatidylserine exposure on apoptotic cell surface	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phosphatidylserine exposure on apoptotic cell surface	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of myoblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of myoblast differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within tolerance induction to self antigen	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor 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
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: XK-related protein 8

Names: X Kell blood group precursor related family member 8 homolog

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.