Details for: XK

Gene ID: 7504

Symbol: XK

Ensembl ID: ENSG00000047597

Description: X-linked Kx blood group antigen, Kell and VPS13A binding protein

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 24.5719
    Cell Significance Index: -6.2300
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 3.2726
    Cell Significance Index: -4.0400
  • Cell Name: basophilic erythroblast (CL0000549)
    Fold Change: 1.6908
    Cell Significance Index: 0.7700
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 1.1268
    Cell Significance Index: 7.4800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.0686
    Cell Significance Index: 23.1500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.0579
    Cell Significance Index: 47.9500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.0314
    Cell Significance Index: 102.0300
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.0249
    Cell Significance Index: 61.5300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.8598
    Cell Significance Index: 776.3400
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.8026
    Cell Significance Index: 87.3000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.6155
    Cell Significance Index: 47.2400
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.5855
    Cell Significance Index: 95.2300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.5551
    Cell Significance Index: 111.3600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.5538
    Cell Significance Index: 15.9600
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.5174
    Cell Significance Index: 7.4100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4562
    Cell Significance Index: 31.5500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.3966
    Cell Significance Index: 20.6000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.3409
    Cell Significance Index: 122.2700
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.2950
    Cell Significance Index: 4.4200
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.2916
    Cell Significance Index: 7.2900
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 0.2887
    Cell Significance Index: 4.3500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.2036
    Cell Significance Index: 23.7300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.2007
    Cell Significance Index: 7.6000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.1892
    Cell Significance Index: 4.0300
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 0.1733
    Cell Significance Index: 1.1300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.1555
    Cell Significance Index: 6.8800
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1271
    Cell Significance Index: 87.9200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1047
    Cell Significance Index: 17.8800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0903
    Cell Significance Index: 17.1800
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.0808
    Cell Significance Index: 1.0900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0436
    Cell Significance Index: 2.7500
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.0282
    Cell Significance Index: 0.2600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0140
    Cell Significance Index: 2.5300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0101
    Cell Significance Index: 0.4700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0097
    Cell Significance Index: 0.3400
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.0037
    Cell Significance Index: 0.0800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0034
    Cell Significance Index: 1.5200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0001
    Cell Significance Index: -0.0700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0057
    Cell Significance Index: -4.2500
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0064
    Cell Significance Index: -0.1100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0070
    Cell Significance Index: -5.3000
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0086
    Cell Significance Index: -0.1700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0093
    Cell Significance Index: -5.2400
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: -0.0106
    Cell Significance Index: -0.1200
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.0106
    Cell Significance Index: -0.1100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0172
    Cell Significance Index: -1.0600
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0272
    Cell Significance Index: -1.1100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0275
    Cell Significance Index: -1.3900
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.0281
    Cell Significance Index: -0.3600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0304
    Cell Significance Index: -3.7400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0320
    Cell Significance Index: -6.7500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0380
    Cell Significance Index: -4.3500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0422
    Cell Significance Index: -4.3100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0422
    Cell Significance Index: -5.8000
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0433
    Cell Significance Index: -0.9200
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0433
    Cell Significance Index: -1.3800
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0449
    Cell Significance Index: -1.9500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0462
    Cell Significance Index: -1.4800
  • Cell Name: L4 intratelencephalic projecting glutamatergic neuron (CL4030063)
    Fold Change: -0.0465
    Cell Significance Index: -0.5100
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0568
    Cell Significance Index: -1.1400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0579
    Cell Significance Index: -7.4800
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0669
    Cell Significance Index: -2.1900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0670
    Cell Significance Index: -4.1100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0691
    Cell Significance Index: -8.1500
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.0796
    Cell Significance Index: -1.1900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0836
    Cell Significance Index: -4.3900
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0870
    Cell Significance Index: -2.1700
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0877
    Cell Significance Index: -1.8200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0915
    Cell Significance Index: -5.1400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0928
    Cell Significance Index: -7.3500
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -0.0935
    Cell Significance Index: -0.8900
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0951
    Cell Significance Index: -2.2800
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0988
    Cell Significance Index: -3.4600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0997
    Cell Significance Index: -7.4300
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.1040
    Cell Significance Index: -1.4900
  • Cell Name: enterocyte (CL0000584)
    Fold Change: -0.1096
    Cell Significance Index: -0.6800
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.1117
    Cell Significance Index: -4.1000
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.1150
    Cell Significance Index: -1.0900
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.1308
    Cell Significance Index: -1.6500
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.1408
    Cell Significance Index: -3.4100
  • Cell Name: medium spiny neuron (CL1001474)
    Fold Change: -0.1423
    Cell Significance Index: -1.9200
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.1466
    Cell Significance Index: -1.8500
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.1500
    Cell Significance Index: -1.8700
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.1543
    Cell Significance Index: -3.2200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1548
    Cell Significance Index: -7.2800
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.1602
    Cell Significance Index: -4.0000
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1616
    Cell Significance Index: -4.3200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1786
    Cell Significance Index: -4.8600
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.1824
    Cell Significance Index: -3.5900
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1835
    Cell Significance Index: -4.9000
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.1857
    Cell Significance Index: -4.2900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.1913
    Cell Significance Index: -2.6100
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.1966
    Cell Significance Index: -3.9200
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.1998
    Cell Significance Index: -5.0900
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.2023
    Cell Significance Index: -2.8800
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: -0.2042
    Cell Significance Index: -2.0600
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.2081
    Cell Significance Index: -7.2300
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.2187
    Cell Significance Index: -3.1400
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: -0.2233
    Cell Significance Index: -2.9200
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.2409
    Cell Significance Index: -7.1000

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Location**: The XK gene is located on the X chromosome, which makes it a X-linked gene. 2. **Protein structure**: The XK gene encodes a protein that belongs to the Rho GTPase activating protein (RhoGAP) family. 3. **Expression**: The XK gene is significantly expressed in various cell types, including lymphocytes, endothelial cells, neurons, and epithelial cells. 4. **Ligand interactions**: The XK protein interacts with multiple ligands, including Kell and VPS13A. 5. **Cellular localization**: The XK protein is localized to the plasma membrane and endoplasmic reticulum. **Pathways and Functions:** The XK gene is involved in various signaling pathways that regulate cell size, axon diameter, and intracellular calcium and magnesium ion homeostasis. Some of the key pathways and functions of the XK gene include: 1. **Amino acid transport**: The XK gene is involved in the regulation of amino acid transport across the plasma membrane. 2. **Intracellular calcium ion homeostasis**: The XK gene helps regulate intracellular calcium ion homeostasis, which is crucial for cellular signaling and function. 3. **Intracellular magnesium ion homeostasis**: The XK gene also plays a role in regulating intracellular magnesium ion homeostasis. 4. **Regulation of axon diameter**: The XK gene helps regulate axon diameter, which is crucial for neuronal function and development. 5. **Regulation of cell size**: The XK gene is involved in regulating cell size, which is important for cellular growth and development. **Clinical Significance:** The XK gene has been associated with several diseases and disorders, including: 1. **Kell disease**: A rare genetic disorder caused by mutations in the XK gene, which leads to hemolytic anemia and other complications. 2. **VPS13A-related disorders**: Mutations in the XK gene have been associated with VPS13A-related disorders, which are characterized by developmental delays and neurological abnormalities. 3. **Neurological disorders**: The XK gene has been implicated in various neurological disorders, including autism spectrum disorder and schizophrenia. In conclusion, the XK gene is a complex gene that plays a critical role in various cellular processes. Further research is needed to fully understand the mechanisms by which the XK gene regulates cell size, axon diameter, and intracellular calcium and magnesium ion homeostasis. Additionally, the clinical significance of the XK gene highlights the importance of genetic testing and diagnosis in patients with suspected XK-related disorders.

Genular Protein ID: 3001464165

Symbol: XK_HUMAN

Name: XK-related protein 1

UniProtKB Accession Codes:

P51811 Q4TTN6 Q8IUK6 Q9UC77

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 4 Ensembl 1 GO 11 GeneCards 1 GeneReviews 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 1 RefSeq 1 SABIO-RK 1 SMR 1 STRING 1 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8004674

Title: Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein.

PubMed ID: 8004674

DOI: 10.1016/0092-8674(94)90136-8

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 7737196

Title: Purification and partial characterization of the erythrocyte Kx protein deficient in McLeod patients.

PubMed ID: 7737196

DOI: 10.1111/j.1432-1033.1995.tb20342.x

PubMed ID: 9593744

Title: Association of XK and Kell blood group proteins.

PubMed ID: 9593744

DOI: 10.1074/jbc.273.22.13950

PubMed ID: 32845802

Title: XK is a partner for VPS13A: a molecular link between Chorea-Acanthocytosis and McLeod Syndrome.

PubMed ID: 32845802

DOI: 10.1091/mbc.e19-08-0439-t

PubMed ID: 11761473

Title: McLeod neuroacanthocytosis: genotype and phenotype.

PubMed ID: 11761473

DOI: 10.1002/ana.10035

PubMed ID: 11961232

Title: Point mutations causing the McLeod phenotype.

PubMed ID: 11961232

DOI: 10.1046/j.1537-2995.2002.00049.x

PubMed ID: 12823753

Title: McLeod phenotype associated with a XK missense mutation without hematologic, neuromuscular, or cerebral involvement.

PubMed ID: 12823753

DOI: 10.1046/j.1537-2995.2003.t01-1-00434.x

PubMed ID: 31086825

Title: Novel pathogenic XK mutations in McLeod syndrome and interaction between XK protein and chorein.

PubMed ID: 31086825

DOI: 10.1212/nxg.0000000000000328

Sequence Information:

  • Length: 444
  • Mass: 50902
  • Checksum: 6F90B0B45659A1DA
  • Sequence:
    • MKFPASVLAS VFLFVAETTA ALSLSSTYRS GGDRMWQALT LLFSLLPCAL VQLTLLFVHR 
DLSRDRPLVL LLHLLQLGPL FRCFEVFCIY FQSGNNEEPY VSITKKRQMP KNGLSEEIEK 
EVGQAEGKLI THRSAFSRAS VIQAFLGSAP QLTLQLYISV MQQDVTVGRS LLMTISLLSI 
VYGALRCNIL AIKIKYDEYE VKVKPLAYVC IFLWRSFEIA TRVVVLVLFT SVLKTWVVVI 
ILINFFSFFL YPWILFWCSG SPFPENIEKA LSRVGTTIVL CFLTLLYTGI NMFCWSAVQL 
KIDSPDLISK SHNWYQLLVY YMIRFIENAI LLLLWYLFKT DIYMYVCAPL LVLQLLIGYC 
TAILFMLVFY QFFHPCKKLF SSSVSEGFQR WLRCFCWACR QQKPCEPIGK EDLQSSRDRD 
ETPSSSKTSP EPGQFLNAED LCSA

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.