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XK - X-linked Kx blood group antigen, Kell and VPS13A binding protein Gene

Also Known as KX; NA; NAC; X1k; XKR1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7504

About XK

Cytogenetic location: Xp21.1 Genomic coordinates (GRCh38): X:37,685,791-37,732,130 (from NCBI)

This gene has 1 transcript (splice variant), 188 orthologues, 2 paralogues and is associated with 2 phenotypes. Broad expression in colon (RPKM 3.9), small intestine (RPKM 3.0) and 18 other tissues.

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]

XK Products (1)

mRNA	Protein	Name
NM_021083.4	NP_066569.1	endoplasmic reticulum membrane adapter protein XK precursor

XK Protein Structure

XK-related

0
100
200
300
400
444 a.a.

Protein Preferred Names	Protein Names
endoplasmic reticulum membrane adapter protein XK membrane transport protein XK	Kell blood group precursor (McLeod phenotype)

Protein Preferred Names

Protein Names

endoplasmic reticulum membrane adapter protein XK

membrane transport protein XK

Kell blood group precursor (McLeod phenotype)

Related Diseases

Diseases	Alias
Mcleod Syndrome	Mcleod Neuroacanthocytosis Syndrome MLS X-Linked Mcleod Syndrome Mcleod Phenotype Neuroacanthocytosis, Mcleod Type Mcleod Syndrome With Or Without Chronic Granulomatous Disease MCLDS Mcleod Type Neuroacanthocytosis Mcleod Syndrome With Chronic Granulomatous Disease Neuroacanthocytosis Mcleod Type Blood Group Deletion Syndrome
Neuroacanthocytosis	Neuroacanthocytosis Syndrome
Choreoacanthocytosis	Chorea-Acanthocytosis CHAC Acanthocytosis With Neurologic Disorder Levine-Critchley Syndrome Choreaacanthocytosis Chorea Acanthocytosis Neuroacanthocytosis Levine-Critchley Syndrome, Formerly Neuroacanthocytosis, Formerly Choreo-Acanthocytosis Acanthocytosis Chorea Chorea Acanthocytosis Syndrome
Chronic Granulomatous Disease	Cgd Granulomatous Disease, Chronic Autosomal Recessive Chronic Granulomatous Disease X-Linked Chronic Granulomatous Disease Bridges-Good Syndrome Congenital Dysphagocytosis Quie Syndrome Chronic Septic Granulomatosis Chronic Granulomatous Disorder Granulomatous Disease Chronic Granulomatous Disease, Chronic, X-Linked
Huntington Disease	Huntington'S Disease Huntington Chorea Huntington'S Chorea HD Huntington Chronic Progressive Hereditary Chorea Juvenile Huntington Disease Chronic Progressive Chorea Chronic Progressive Hereditary Chorea Hc - [Huntington Chorea] Hereditary Chorea Progressive Hereditary Chorea
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy
Granulomatous Disease, Chronic, X-Linked	CGDX Chronic Granulomatous Disease, X-Linked X-Linked Chronic Granulomatous Disease Cgd Cytochrome B-Negative Granulomatous Disease, Chronic, X-Linked Cdgx X-Linked Chronic Cytochrome B-Negative Granulomatous Disease Chronic Granulomatous Disease Cytochrome B-Negative X-Linked Chronic Granulomatous Disease Cytochrome B-Positive X-Linked Granulomatous Disease, Chronic, X-Linked, Variant
Gallbladder Benign Neoplasm
Phagocyte Bactericidal Dysfunction	Phagocytic Dysfunction
Gallbladder Adenoma
Myopathy	Muscular Diseases Myopathies
Muscular Dystrophy, Duchenne Type	Duchenne Muscular Dystrophy DMD Muscular Dystrophy, Duchenne Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type Severe Dystrophinopathy, Duchenne Type Muscular Dystrophy Duchenne Dystrophy, Muscular, Duchenne Type Benign Duchenne Muscular Dystrophy Duchenne Motor Neuron Disease Duchenne Type Dystrophy Duchenne-Griesinger Disease
Spermatogenic Failure, Y-Linked, 2	SPGFY2 Spermatogenic Failure, Nonobstructive, Y-Linked Y-Linked Spermatogenic Failure 2 Azoospermia, Nonobstructive, Y-Linked Oligozoospermia, Nonobstructive, Y-Linked Oligospermia, Nonobstructive, Y-Linked Spermatogenic Arrest, Y-Linked Nonobstructive Y-Linked Spermatogenic Failure Spermatogenic Failure Y-Linked 2 Azoospermia Non-Obstructive Y-Linked Non-Obstructive Azoospermia And Infertility Oligospermia Non-Obstructive Y-Linked Oligozoospermia Non-Obstructive Y-Linked Spermatogenic Arrest Y-Linked Spermatogenic Failure Nonobstructive Y-Linked
Choreatic Disease	Chorea Hereditary Chorea

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Approval
Pre-clinical Phase

Approval

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-B1915	Micronomicin	Inhibitor	99.92%	Unkown

Pre-clinical Phase

Bioactive Molecules (11)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-108307	Micronomicin sulfate	Inhibitor	99.96%	Unkown
HY-120679	XK469	Inhibitor	98%	Unkown
HY-113799	Echinosporin		/	Unkown
HY-120679A	XK469 sodium	Inhibitor	/	Unkown
HY-RS15878	XK Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-N13959	Seldomycin factor 1	Inhibitor	/	Unkown
HY-N13961	Seldomycin factor 2	Inhibitor	/	Unkown
HY-N13964	Seldomycin factor 3	Inhibitor	/	Unkown
HY-N13986	Seldomycin factor 5	Inhibitor	/	Unkown
HY-RS17865	Xk Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24334	Xk Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	XK	RGD	RGD:1359650
Mus musculus	XK	MGD	MGI:103569