Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7504
Gene name	X-linked Kx blood group antigen, Kell and VPS13A binding protein
Gene symbol	XK
Synonyms (NCBI Gene)	KXNANACX1kXKR1
Chromosome	X
Chromosome location	Xp21.1
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 s

Show/Hide all (7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28933690	T>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104894953	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs104894954	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1556450491	A>T	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1602145991	G>A	Pathogenic	Splice donor variant
rs1602158863	G>A	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1602159120	T>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant

142

Show/Hide all (142)

miRTarBase ID	miRNA	Experiments	Reference
MIRT024667	hsa-miR-215-5p	Microarray	19074876
MIRT026742	hsa-miR-192-5p	Microarray	19074876
MIRT027860	hsa-miR-98-5p	Microarray	19088304
MIRT030081	hsa-miR-26b-5p	Microarray	19088304
MIRT044236	hsa-miR-29c-3p	CLASH	23622248
MIRT038931	hsa-miR-31-3p	CLASH	23622248
MIRT1495712	hsa-miR-1200	CLIP-seq
MIRT1495713	hsa-miR-1257	CLIP-seq
MIRT1495714	hsa-miR-1262	CLIP-seq
MIRT1495715	hsa-miR-1270	CLIP-seq
MIRT1495716	hsa-miR-1278	CLIP-seq
MIRT1495717	hsa-miR-1303	CLIP-seq
MIRT1495718	hsa-miR-139-5p	CLIP-seq
MIRT1495719	hsa-miR-140-5p	CLIP-seq
MIRT1495720	hsa-miR-1587	CLIP-seq
MIRT1495721	hsa-miR-216b	CLIP-seq
MIRT1495722	hsa-miR-3125	CLIP-seq
MIRT1495723	hsa-miR-3127-3p	CLIP-seq
MIRT1495724	hsa-miR-3140-5p	CLIP-seq
MIRT1495725	hsa-miR-338-3p	CLIP-seq
MIRT1495726	hsa-miR-340	CLIP-seq
MIRT1495727	hsa-miR-3545-5p	CLIP-seq
MIRT1495728	hsa-miR-3609	CLIP-seq
MIRT1495729	hsa-miR-3667-3p	CLIP-seq
MIRT1495730	hsa-miR-3675-3p	CLIP-seq
MIRT1495731	hsa-miR-3691-3p	CLIP-seq
MIRT1495732	hsa-miR-378g	CLIP-seq
MIRT1495733	hsa-miR-3908	CLIP-seq
MIRT1495734	hsa-miR-3916	CLIP-seq
MIRT1495735	hsa-miR-3925-3p	CLIP-seq
MIRT1495736	hsa-miR-4275	CLIP-seq
MIRT1495737	hsa-miR-4282	CLIP-seq
MIRT1495738	hsa-miR-4460	CLIP-seq
MIRT1495739	hsa-miR-4477a	CLIP-seq
MIRT1495740	hsa-miR-4492	CLIP-seq
MIRT1495741	hsa-miR-4498	CLIP-seq
MIRT1495742	hsa-miR-4520a-3p	CLIP-seq
MIRT1495743	hsa-miR-4528	CLIP-seq
MIRT1495744	hsa-miR-4530	CLIP-seq
MIRT1495745	hsa-miR-455-5p	CLIP-seq
MIRT1495746	hsa-miR-4656	CLIP-seq
MIRT1495747	hsa-miR-4659a-3p	CLIP-seq
MIRT1495748	hsa-miR-4659a-5p	CLIP-seq
MIRT1495749	hsa-miR-4659b-3p	CLIP-seq
MIRT1495750	hsa-miR-4659b-5p	CLIP-seq
MIRT1495751	hsa-miR-4666-5p	CLIP-seq
MIRT1495752	hsa-miR-4675	CLIP-seq
MIRT1495753	hsa-miR-4683	CLIP-seq
MIRT1495754	hsa-miR-4684-5p	CLIP-seq
MIRT1495755	hsa-miR-4701-3p	CLIP-seq
MIRT1495756	hsa-miR-4712-3p	CLIP-seq
MIRT1495757	hsa-miR-4715-5p	CLIP-seq
MIRT1495758	hsa-miR-4735-5p	CLIP-seq
MIRT1495759	hsa-miR-4741	CLIP-seq
MIRT1495760	hsa-miR-4747-3p	CLIP-seq
MIRT1495761	hsa-miR-4755-3p	CLIP-seq
MIRT1495762	hsa-miR-4762-3p	CLIP-seq
MIRT1495763	hsa-miR-4762-5p	CLIP-seq
MIRT1495764	hsa-miR-4764-3p	CLIP-seq
MIRT1495765	hsa-miR-4766-5p	CLIP-seq
MIRT1495766	hsa-miR-4780	CLIP-seq
MIRT1495767	hsa-miR-4790-3p	CLIP-seq
MIRT1495768	hsa-miR-548a-3p	CLIP-seq
MIRT1495769	hsa-miR-548ah	CLIP-seq
MIRT1495770	hsa-miR-548e	CLIP-seq
MIRT1495771	hsa-miR-548f	CLIP-seq
MIRT1495772	hsa-miR-548k	CLIP-seq
MIRT1495773	hsa-miR-548v	CLIP-seq
MIRT1495774	hsa-miR-582-5p	CLIP-seq
MIRT1495775	hsa-miR-586	CLIP-seq
MIRT1495776	hsa-miR-600	CLIP-seq
MIRT1495777	hsa-miR-620	CLIP-seq
MIRT1495778	hsa-miR-626	CLIP-seq
MIRT1495779	hsa-miR-645	CLIP-seq
MIRT1495780	hsa-miR-656	CLIP-seq
MIRT1495781	hsa-miR-762	CLIP-seq
MIRT1495782	hsa-miR-766	CLIP-seq
MIRT1495712	hsa-miR-1200	CLIP-seq
MIRT1495713	hsa-miR-1257	CLIP-seq
MIRT2149307	hsa-miR-154	CLIP-seq
MIRT1495723	hsa-miR-3127-3p	CLIP-seq
MIRT2149308	hsa-miR-3127-5p	CLIP-seq
MIRT1495724	hsa-miR-3140-5p	CLIP-seq
MIRT1495728	hsa-miR-3609	CLIP-seq
MIRT2149309	hsa-miR-3613-3p	CLIP-seq
MIRT1495729	hsa-miR-3667-3p	CLIP-seq
MIRT2149310	hsa-miR-4307	CLIP-seq
MIRT2149311	hsa-miR-4330	CLIP-seq
MIRT1495751	hsa-miR-4666-5p	CLIP-seq
MIRT2149312	hsa-miR-4718	CLIP-seq
MIRT2149313	hsa-miR-4742-3p	CLIP-seq
MIRT1495765	hsa-miR-4766-5p	CLIP-seq
MIRT1495767	hsa-miR-4790-3p	CLIP-seq
MIRT2149314	hsa-miR-514	CLIP-seq
MIRT2149315	hsa-miR-514b-3p	CLIP-seq
MIRT1495769	hsa-miR-548ah	CLIP-seq
MIRT2369736	hsa-miR-197	CLIP-seq
MIRT2369737	hsa-miR-3158-3p	CLIP-seq
MIRT1495736	hsa-miR-4275	CLIP-seq
MIRT1495737	hsa-miR-4282	CLIP-seq
MIRT2149310	hsa-miR-4307	CLIP-seq
MIRT2369738	hsa-miR-4685-5p	CLIP-seq
MIRT2369739	hsa-miR-5096	CLIP-seq
MIRT2397073	hsa-miR-193a-5p	CLIP-seq
MIRT2397074	hsa-miR-3064-3p	CLIP-seq
MIRT1495731	hsa-miR-3691-3p	CLIP-seq
MIRT1495747	hsa-miR-4659a-3p	CLIP-seq
MIRT1495748	hsa-miR-4659a-5p	CLIP-seq
MIRT1495749	hsa-miR-4659b-3p	CLIP-seq
MIRT1495750	hsa-miR-4659b-5p	CLIP-seq
MIRT2397075	hsa-miR-4715-3p	CLIP-seq
MIRT2397076	hsa-miR-4776-3p	CLIP-seq
MIRT2466341	hsa-miR-4290	CLIP-seq
MIRT2466342	hsa-miR-4687-5p	CLIP-seq
MIRT2466343	hsa-miR-548aa	CLIP-seq
MIRT2663371	hsa-let-7a	CLIP-seq
MIRT2663372	hsa-let-7b	CLIP-seq
MIRT2663373	hsa-let-7c	CLIP-seq
MIRT2663374	hsa-let-7d	CLIP-seq
MIRT2663375	hsa-let-7e	CLIP-seq
MIRT2663376	hsa-let-7f	CLIP-seq
MIRT2663377	hsa-let-7g	CLIP-seq
MIRT2663378	hsa-let-7i	CLIP-seq
MIRT2663379	hsa-miR-202	CLIP-seq
MIRT2663380	hsa-miR-3148	CLIP-seq
MIRT2663381	hsa-miR-3978	CLIP-seq
MIRT2149311	hsa-miR-4330	CLIP-seq
MIRT2663382	hsa-miR-4458	CLIP-seq
MIRT2663383	hsa-miR-4494	CLIP-seq
MIRT2663384	hsa-miR-4500	CLIP-seq
MIRT2149312	hsa-miR-4718	CLIP-seq
MIRT2149313	hsa-miR-4742-3p	CLIP-seq
MIRT2663385	hsa-miR-499a-5p	CLIP-seq
MIRT2663386	hsa-miR-513a-3p	CLIP-seq
MIRT2149314	hsa-miR-514	CLIP-seq
MIRT2149315	hsa-miR-514b-3p	CLIP-seq
MIRT2663387	hsa-miR-889	CLIP-seq
MIRT2663388	hsa-miR-98	CLIP-seq
MIRT2149312	hsa-miR-4718	CLIP-seq
MIRT2149313	hsa-miR-4742-3p	CLIP-seq
MIRT2149314	hsa-miR-514	CLIP-seq
MIRT2149315	hsa-miR-514b-3p	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	7737196
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	32845802
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IDA	9593744, 32845802
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0006865	Process	Amino acid transport	IEA
GO:0006874	Process	Intracellular calcium ion homeostasis	IEA
GO:0008361	Process	Regulation of cell size	IEA
GO:0010961	Process	Intracellular magnesium ion homeostasis	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	8004674, 9647734
GO:0030674	Function	Protein-macromolecule adaptor activity	IMP	32845802
GO:0031133	Process	Regulation of axon diameter	IEA
GO:0042552	Process	Myelination	IEA
GO:0048741	Process	Skeletal muscle fiber development	IEA

MIM	HGNC	e!Ensembl
314850	12811	ENSG00000047597

P51811

Protein name

Endoplasmic reticulum membrane adapter protein XK (Kell complex 37 kDa component) (Kx antigen) (Membrane transport protein XK) (XK-related protein 1)

Protein function

Recruits the lipid transfer protein VPS13A from lipid droplets to the endoplasmic reticulum (ER) membrane.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09815	XK-related	5 → 376	XK-related protein	Family

Tissue specificity

TISSUE SPECIFICITY: High levels in skeletal muscle, heart, brain, and pancreas; low levels in placenta, lung, liver, and kidney. {ECO:0000269|PubMed:8004674}.

Sequence

MKFPASVLASVFLFVAETTAALSLSSTYRSGGDRMWQALTLLFSLLPCALVQLTLLFVHR
DLSRDRPLVLLLHLLQLGPLFRCFEVFCIYFQSGNNEEPYVSITKKRQMPKNGLSEEIEK
EVGQAEGKLITHRSAFSRASVIQAFLGSAPQLTLQLYISVMQQDVTVGRSLLMTISLLSI
VYGALRCNILAIKIKYDEYEVKVKPLAYVCIFLWRSFEIATRVVVLVLFTSVLKTWVVVI
ILINFFSFFLYPWILFWCSGSPFPENIEKALSRVGTTIVLCFLTLLYTGINMFCWSAVQL
KIDSPDLISKSHNWYQLLVYYMIRFIENAILLLLWYLFKTDIYMYVCAPLLVLQLLIGYC
TAILFMLVFYQFFHPCKKLFSSSVSEGFQRWLRCFCWACRQQKPCEPIGKEDLQSSRDRD
ETPSSSKTSPEPGQFLNAEDLCSA

Sequence length

444

Interactions

View interactions

	Reactome
			Peptide ligand-binding receptors

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Elevated circulating creatine kinase concentration	Likely pathogenic	rs2519163494	RCV003127219
McLeod neuroacanthocytosis syndrome	Likely pathogenic; Pathogenic	rs2146834483, rs1602145991, rs1602158863, rs1602159120, rs28933690, rs2146834690, rs104894953, rs104894954	RCV001730037 RCV000010418 RCV000010419 RCV000010421 RCV000010422 RCV000010423 RCV000010424 RCV000010425
XK-related disorder	Pathogenic	rs868990544	RCV003901938

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