XK (X-linked Kx blood group)

2014-11-01 Affiliation

Identity

HGNC

LOCATION

Xp21.1

LOCUSID

7504

ALIAS

KX,NA,NAC,X1k,XKR1

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 7504
MIM: 314850
HGNC: 12811
Ensembl: ENSG00000047597

Variants:

dbSNP: 7504
ClinVar: 7504
TCGA: ENSG00000047597
COSMIC: XK

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000047597	ENST00000378616	P51811

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Signal Transduction	REACTOME	R-HSA-162582
Signaling by GPCR	REACTOME	R-HSA-372790
GPCR ligand binding	REACTOME	R-HSA-500792
Class A/1 (Rhodopsin-like receptors)	REACTOME	R-HSA-373076
Peptide ligand-binding receptors	REACTOME	R-HSA-375276

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
35994651	2022	A partnership between the lipid scramblase XK and the lipid transfer protein VPS13A at the plasma membrane.	24
35994651	2022	A partnership between the lipid scramblase XK and the lipid transfer protein VPS13A at the plasma membrane.	24
32845802	2020	XK is a partner for VPS13A: a molecular link between Chorea-Acanthocytosis and McLeod Syndrome.	27
32845802	2020	XK is a partner for VPS13A: a molecular link between Chorea-Acanthocytosis and McLeod Syndrome.	27
26308465	2015	Kell and Kx blood group systems.	8
26308465	2015	Kell and Kx blood group systems.	8
24635891	2014	A novel XK gene mutation in a Taiwanese family with McLeod syndrome.	3
24816235	2014	No evidence of hypermutability in red cells from patients with paroxysmal nocturnal hemoglobinuria using the XK gene.	2
24635891	2014	A novel XK gene mutation in a Taiwanese family with McLeod syndrome.	3
24816235	2014	No evidence of hypermutability in red cells from patients with paroxysmal nocturnal hemoglobinuria using the XK gene.	2
21145924	2011	Comprehensive analysis of the genes responsible for neuroacanthocytosis in mood disorder and schizophrenia.	4
21463873	2011	Two McLeod patients with novel mutations in XK.	2
21145924	2011	Comprehensive analysis of the genes responsible for neuroacanthocytosis in mood disorder and schizophrenia.	4
21463873	2011	Two McLeod patients with novel mutations in XK.	2
17379193	2007	The Kell and XK proteins of the Kell blood group are not co-expressed in the central nervous system.	15

Citation

Dessen P

XK (X-linked Kx blood group)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75781