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

 XK_HUMAN                Reviewed;         444 AA.
P51811; Q4TTN6; Q8IUK6; Q9UC77;
01-OCT-1996, integrated into UniProtKB/Swiss-Prot.
24-JAN-2006, sequence version 5.
07-APR-2021, entry version 163.
RecName: Full=Membrane transport protein XK;
AltName: Full=Kell complex 37 kDa component;
AltName: Full=Kx antigen;
AltName: Full=XK-related protein 1;
Name=XK; Synonyms=XKR1, XRG1;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA].
PubMed=8004674; DOI=10.1016/0092-8674(94)90136-8;
Ho M., Chelly J., Carter N., Danek A., Crocker P., Monaco A.P.;
"Isolation of the gene for McLeod syndrome that encodes a novel membrane
transport protein.";
Cell 77:869-880(1994).
[2]
SEQUENCE REVISION TO 204-205.
Ho M.;
Submitted (MAY-1999) to the EMBL/GenBank/DDBJ databases.
[3]
NUCLEOTIDE SEQUENCE [MRNA].
Huang C.-H., Chen Y.;
"A superfamily of XK-related genes (XRG) widely expressed in vertebrates
and invertebrates.";
Submitted (JAN-2004) to the EMBL/GenBank/DDBJ databases.
[4]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
SeattleSNPs variation discovery resource;
Submitted (MAY-2005) to the EMBL/GenBank/DDBJ databases.
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Testis;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project:
the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[6]
PROTEIN SEQUENCE OF 1-22, AND LACK OF GLYCOSYLATION.
PubMed=7737196; DOI=10.1111/j.1432-1033.1995.0931m.x;
Khamlichi S., Bailly P., Blanchard D., Goossens D., Cartron J.-P.,
Bertrand O.;
"Purification and partial characterization of the erythrocyte Kx protein
deficient in McLeod patients.";
Eur. J. Biochem. 228:931-934(1995).
[7]
SUBUNIT, DISULFIDE BOND, MUTAGENESIS OF CYS-347, AND POLYMORPHISM.
PubMed=9593744; DOI=10.1074/jbc.273.22.13950;
Russo D., Redman C., Lee S.;
"Association of XK and Kell blood group proteins.";
J. Biol. Chem. 273:13950-13956(1998).
[8]
VARIANT MLS ARG-294.
PubMed=11761473; DOI=10.1002/ana.10035;
Danek A., Rubio J.P., Rampoldi L., Ho M., Dobson-Stone C., Tison F.,
Symmans W.A., Oechsner M., Kalckreuth W., Watt J.M., Corbett A.J.,
Hamdalla H.H., Marshall A.G., Sutton I., Dotti M.T., Malandrini A.,
Walker R.H., Daniels G., Monaco A.P.;
"McLeod neuroacanthocytosis: genotype and phenotype.";
Ann. Neurol. 50:755-764(2001).
[9]
VARIANT MLS GLY-222.
PubMed=11961232; DOI=10.1046/j.1537-2995.2002.00049.x;
Russo D.C., Lee S., Reid M.E., Redman C.M.;
"Point mutations causing the McLeod phenotype.";
Transfusion 42:287-293(2002).
[10]
VARIANT MLS LYS-327.
PubMed=12823753; DOI=10.1046/j.1537-2995.2003.t01-1-00434.x;
Jung H.H., Hergersberg M., Vogt M., Pahnke J., Treyer V., Rothlisberger B.,
Kollias S.S., Russo D., Frey B.M.;
"McLeod phenotype associated with a XK missense mutation without
hematologic, neuromuscular, or cerebral involvement.";
Transfusion 43:928-938(2003).
-!- FUNCTION: May be involved in sodium-dependent transport of neutral
amino acids or oligopeptides.
-!- SUBUNIT: Heterodimer with Kell; disulfide-linked.
{ECO:0000269|PubMed:9593744}.
-!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
protein {ECO:0000305}.
-!- TISSUE SPECIFICITY: High levels in skeletal muscle, heart, brain, and
pancreas; low levels in placenta, lung, liver, and kidney.
-!- PTM: Not glycosylated.
-!- POLYMORPHISM: XK is responsible for the Kx blood group system.
{ECO:0000305|PubMed:9593744}.
-!- DISEASE: McLeod syndrome (MLS) [MIM:300842]: A multisystem disorder
characterized by the absence of red blood cell Kx antigen, weak
expression of Kell red blood cell antigens, acanthocytosis, and
compensated hemolysis. Most carriers of this McLeod blood group
phenotype have acanthocytosis and elevated serum creatine kinase levels
and are prone to develop a severe neurologic disorder resembling
Huntington disease. Additional symptoms include generalized seizures,
neuromuscular symptoms leading to weakness and atrophy, and
cardiomyopathy mainly manifesting with atrial fibrillation, malignant
arrhythmias, and dilated cardiomyopathy. {ECO:0000269|PubMed:11761473,
ECO:0000269|PubMed:11961232, ECO:0000269|PubMed:12823753}. Note=The
disease is caused by variants affecting the gene represented in this
entry.
-!- SIMILARITY: Belongs to the XK family. {ECO:0000305}.
-!- WEB RESOURCE: Name=SeattleSNPs;
URL="http://pga.gs.washington.edu/data/xk/";
---------------------------------------------------------------------------
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EMBL; Z32684; CAA83632.2; -; mRNA.
EMBL; AY534238; AAT07087.1; -; mRNA.
EMBL; DQ062746; AAY43132.1; -; Genomic_DNA.
EMBL; BC036019; AAH36019.1; -; mRNA.
CCDS; CCDS14241.1; -.
PIR; I39294; I39294.
RefSeq; NP_066569.1; NM_021083.3.
BioGRID; 113341; 7.
IntAct; P51811; 1.
STRING; 9606.ENSP00000367879; -.
TCDB; 2.A.112.1.1; the kx blood-group antigen (kxa) family.
iPTMnet; P51811; -.
PhosphoSitePlus; P51811; -.
SwissPalm; P51811; -.
BioMuta; XK; -.
DMDM; 85700269; -.
EPD; P51811; -.
jPOST; P51811; -.
MassIVE; P51811; -.
MaxQB; P51811; -.
PaxDb; P51811; -.
PeptideAtlas; P51811; -.
PRIDE; P51811; -.
ProteomicsDB; 56407; -.
Antibodypedia; 10552; 161 antibodies.
Ensembl; ENST00000378616; ENSP00000367879; ENSG00000047597.
GeneID; 7504; -.
KEGG; hsa:7504; -.
UCSC; uc004ddq.4; human.
CTD; 7504; -.
DisGeNET; 7504; -.
GeneCards; XK; -.
GeneReviews; XK; -.
HGNC; HGNC:12811; XK.
HPA; ENSG00000047597; Tissue enhanced (intestine).
MalaCards; XK; -.
MIM; 300842; phenotype.
MIM; 314850; gene.
neXtProt; NX_P51811; -.
OpenTargets; ENSG00000047597; -.
Orphanet; 59306; McLeod neuroacanthocytosis syndrome.
PharmGKB; PA37410; -.
VEuPathDB; HostDB:ENSG00000047597.5; -.
eggNOG; ENOG502QTTF; Eukaryota.
GeneTree; ENSGT00390000003231; -.
HOGENOM; CLU_037429_1_1_1; -.
InParanoid; P51811; -.
OMA; ICVLQQE; -.
OrthoDB; 768086at2759; -.
PhylomeDB; P51811; -.
TreeFam; TF331465; -.
PathwayCommons; P51811; -.
Reactome; R-HSA-375276; Peptide ligand-binding receptors.
SABIO-RK; P51811; -.
BioGRID-ORCS; 7504; 2 hits in 619 CRISPR screens.
ChiTaRS; XK; human.
GenomeRNAi; 7504; -.
Pharos; P51811; Tbio.
PRO; PR:P51811; -.
Proteomes; UP000005640; Chromosome X.
RNAct; P51811; protein.
Bgee; ENSG00000047597; Expressed in liver and 187 other tissues.
Genevisible; P51811; HS.
GO; GO:0016021; C:integral component of membrane; TAS:HGNC-UCL.
GO; GO:0005886; C:plasma membrane; TAS:Reactome.
GO; GO:0005215; F:transporter activity; TAS:ProtInc.
GO; GO:0006865; P:amino acid transport; IEA:UniProtKB-KW.
GO; GO:0007186; P:G protein-coupled receptor signaling pathway; TAS:Reactome.
InterPro; IPR018629; XK-rel.
Pfam; PF09815; XK-related; 1.
1: Evidence at protein level;
Amino-acid transport; Blood group antigen; Direct protein sequencing;
Disease variant; Disulfide bond; Membrane; Phosphoprotein;
Reference proteome; Transmembrane; Transmembrane helix; Transport.
CHAIN 1..444
/note="Membrane transport protein XK"
/id="PRO_0000190767"
TOPO_DOM 1..2
/note="Cytoplasmic"
/evidence="ECO:0000255"
TRANSMEM 3..23
/note="Helical"
/evidence="ECO:0000255"
TOPO_DOM 24..37
/note="Extracellular"
/evidence="ECO:0000255"
TRANSMEM 38..58
/note="Helical"
/evidence="ECO:0000255"
TOPO_DOM 59..68
/note="Cytoplasmic"
/evidence="ECO:0000255"
TRANSMEM 69..89
/note="Helical"
/evidence="ECO:0000255"
TOPO_DOM 90..140
/note="Extracellular"
/evidence="ECO:0000255"
TRANSMEM 141..161
/note="Helical"
/evidence="ECO:0000255"
TOPO_DOM 162..171
/note="Cytoplasmic"
/evidence="ECO:0000255"
TRANSMEM 172..192
/note="Helical"
/evidence="ECO:0000255"
TOPO_DOM 193..208
/note="Extracellular"
/evidence="ECO:0000255"
TRANSMEM 209..229
/note="Helical"
/evidence="ECO:0000255"
TOPO_DOM 230..235
/note="Cytoplasmic"
/evidence="ECO:0000255"
TRANSMEM 236..256
/note="Helical"
/evidence="ECO:0000255"
TOPO_DOM 257..277
/note="Extracellular"
/evidence="ECO:0000255"
TRANSMEM 278..298
/note="Helical"
/evidence="ECO:0000255"
TOPO_DOM 299..317
/note="Cytoplasmic"
/evidence="ECO:0000255"
TRANSMEM 318..338
/note="Helical"
/evidence="ECO:0000255"
TOPO_DOM 339..349
/note="Extracellular"
/evidence="ECO:0000255"
TRANSMEM 350..370
/note="Helical"
/evidence="ECO:0000255"
TOPO_DOM 371..444
/note="Cytoplasmic"
/evidence="ECO:0000255"
MOD_RES 115
/note="Phosphoserine"
/evidence="ECO:0000250|UniProtKB:Q5GH61"
DISULFID 347
/note="Interchain (with C-72 in Kell)"
/evidence="ECO:0000269|PubMed:9593744"
VARIANT 222
/note="R -> G (in MLS)"
/evidence="ECO:0000269|PubMed:11961232"
/id="VAR_013817"
VARIANT 294
/note="C -> R (in MLS; dbSNP:rs28933690)"
/evidence="ECO:0000269|PubMed:11761473"
/id="VAR_013818"
VARIANT 327
/note="E -> K (in MLS; atypical without hematologic,
neuromuscular, or cerebral involvement)"
/evidence="ECO:0000269|PubMed:12823753"
/id="VAR_023581"
MUTAGEN 347
/note="C->S: Loss of Kell-XK complex."
/evidence="ECO:0000269|PubMed:9593744"
CONFLICT 248
/note="F -> L (in Ref. 3 and 5)"
/evidence="ECO:0000305"
SEQUENCE 444 AA; 50902 MW; 6F90B0B45659A1DA CRC64;
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


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Related Genes :
[XK XKR1 XRG1] Membrane transport protein XK (Kell complex 37 kDa component) (Kx antigen) (XK-related protein 1)
[Xk Xkh Xkr1 Xrg1] Membrane transport protein XK (XK homolog) (XK-related protein 1)
[pstS1 phoS1 Rv0934 MTCY08D9.05c] Phosphate-binding protein PstS 1 (PBP 1) (PhoS1) (PstS-1) (38-kDa glycolipoprotein) (38-kDa lipoprotein) (P38) (Antigen Ag78) (Protein antigen B) (Pab)
[HSP90AA1 HSP90A HSPC1 HSPCA] Heat shock protein HSP 90-alpha (EC 3.6.4.10) (Heat shock 86 kDa) (HSP 86) (HSP86) (Lipopolysaccharide-associated protein 2) (LAP-2) (LPS-associated protein 2) (Renal carcinoma antigen NY-REN-38)
[CD59 MIC11 MIN1 MIN2 MIN3 MSK21] CD59 glycoprotein (1F5 antigen) (20 kDa homologous restriction factor) (HRF-20) (HRF20) (MAC-inhibitory protein) (MAC-IP) (MEM43 antigen) (Membrane attack complex inhibition factor) (MACIF) (Membrane inhibitor of reactive lysis) (MIRL) (Protectin) (CD antigen CD59)
[S100A8 CAGA CFAG MRP8] Protein S100-A8 (Calgranulin-A) (Calprotectin L1L subunit) (Cystic fibrosis antigen) (CFAG) (Leukocyte L1 complex light chain) (Migration inhibitory factor-related protein 8) (MRP-8) (p8) (S100 calcium-binding protein A8) (Urinary stone protein band A)
[apa modD Rv1860 MTCY359.13] Alanine and proline-rich secreted protein Apa (45 kDa glycoprotein) (45/47 kDa antigen) (Antigen MPT-32) (FAP-B) (Fibronectin attachment protein) (Immunogenic protein MPT32)
[AP2M1 CLAPM1 KIAA0109] AP-2 complex subunit mu (AP-2 mu chain) (Adaptin-mu2) (Adaptor protein complex AP-2 subunit mu) (Adaptor-related protein complex 2 subunit mu) (Clathrin assembly protein complex 2 mu medium chain) (Clathrin coat assembly protein AP50) (Clathrin coat-associated protein AP50) (HA2 50 kDa subunit) (Plasma membrane adaptor AP-2 50 kDa protein)
[lpqH Rv3763 MTV025.111] Lipoprotein LpqH (19 kDa lipoprotein antigen) (Putative transporter LpqH) (p19)
[Ap2a1 Adtaa Clapa1] AP-2 complex subunit alpha-1 (100 kDa coated vesicle protein A) (Adaptor protein complex AP-2 subunit alpha-1) (Adaptor-related protein complex 2 subunit alpha-1) (Alpha-adaptin A) (Alpha1-adaptin) (Clathrin assembly protein complex 2 alpha-A large chain) (Plasma membrane adaptor HA2/AP2 adaptin alpha A subunit)
[esxB cfp10 lhp mtsA10 Rv3874 MTV027.09] ESAT-6-like protein EsxB (10 kDa culture filtrate antigen CFP-10) (CFP-10) (Secreted antigenic protein MTSA-10)
[Rpsa Lamr1 P40-8] 40S ribosomal protein SA (37 kDa laminin receptor precursor) (37LRP) (37 kDa oncofetal antigen) (37/67 kDa laminin receptor) (LRP/LR) (67 kDa laminin receptor) (67LR) (Laminin receptor 1) (LamR) (Laminin-binding protein precursor p40) (LBP/p40) (OFA/iLRP)
[S100A9 CAGB CFAG MRP14] Protein S100-A9 (Calgranulin-B) (Calprotectin L1H subunit) (Leukocyte L1 complex heavy chain) (Migration inhibitory factor-related protein 14) (MRP-14) (p14) (S100 calcium-binding protein A9)
[hspX acr Rv2031c MTV018.18c] Alpha-crystallin (Acr) (14 kDa antigen) (16 kDa antigen) (HSP 16.3) (Nox16)
[AP2A1 ADTAA CLAPA1] AP-2 complex subunit alpha-1 (100 kDa coated vesicle protein A) (Adaptor protein complex AP-2 subunit alpha-1) (Adaptor-related protein complex 2 subunit alpha-1) (Alpha-adaptin A) (Alpha1-adaptin) (Clathrin assembly protein complex 2 alpha-A large chain) (Plasma membrane adaptor HA2/AP2 adaptin alpha A subunit)
[lprG lpp-27 Rv1411c MTCY21B4.28c] Lipoarabinomannan carrier protein LprG (27 kDa lipoprotein) (Antigen P27) (Lipoprotein LprG) (Triacylated glycolipid carrier LprG) (Triacylglyceride transfer protein LprG)
[fbpC mpt45 Rv0129c MTCI5.03c] Diacylglycerol acyltransferase/mycolyltransferase Ag85C (DGAT) (EC 2.3.1.122) (EC 2.3.1.20) (Acyl-CoA:diacylglycerol acyltransferase) (Antigen 85 complex C) (85C) (Ag85C) (Fibronectin-binding protein C) (Fbps C)
[AP2S1 AP17 CLAPS2] AP-2 complex subunit sigma (Adaptor protein complex AP-2 subunit sigma) (Adaptor-related protein complex 2 subunit sigma) (Clathrin assembly protein 2 sigma small chain) (Clathrin coat assembly protein AP17) (Clathrin coat-associated protein AP17) (HA2 17 kDa subunit) (Plasma membrane adaptor AP-2 17 kDa protein) (Sigma2-adaptin)
[Hsp90aa1 Hsp86 Hsp86-1 Hspca] Heat shock protein HSP 90-alpha (EC 3.6.4.10) (Heat shock 86 kDa) (HSP 86) (HSP86) (Tumor-specific transplantation 86 kDa antigen) (TSTA)
[Ap2a2 Adtab] AP-2 complex subunit alpha-2 (100 kDa coated vesicle protein C) (Adaptor protein complex AP-2 subunit alpha-2) (Adaptor-related protein complex 2 subunit alpha-2) (Alpha-adaptin C) (Alpha2-adaptin) (Clathrin assembly protein complex 2 alpha-C large chain) (Plasma membrane adaptor HA2/AP2 adaptin alpha C subunit)
[Ap2a2 Adtab] AP-2 complex subunit alpha-2 (100 kDa coated vesicle protein C) (Adaptor protein complex AP-2 subunit alpha-2) (Adaptor-related protein complex 2 subunit alpha-2) (Alpha-adaptin C) (Alpha2-adaptin) (Clathrin assembly protein complex 2 alpha-C large chain) (Plasma membrane adaptor HA2/AP2 adaptin alpha C subunit)
[Xk Xkh Xkr1 Xrg1] Membrane transport protein XK (XK homolog) (XK-related protein 1)
[Hsp90ab1 Hsp84 Hsp84-1 Hspcb] Heat shock protein HSP 90-beta (Heat shock 84 kDa) (HSP 84) (HSP84) (Tumor-specific transplantation 84 kDa antigen) (TSTA)
[Ap2m1 Clapm1] AP-2 complex subunit mu (AP-2 mu chain) (Adaptor protein complex AP-2 subunit mu) (Adaptor-related protein complex 2 subunit mu) (Clathrin assembly protein complex 2 mu medium chain) (Clathrin coat assembly protein AP50) (Clathrin coat-associated protein AP50) (Mu2-adaptin) (Plasma membrane adaptor AP-2 50 kDa protein)
[esxA esaT6 Rv3875 MTV027.10] 6 kDa early secretory antigenic target (ESAT-6)
[Ap2m1] AP-2 complex subunit mu (AP-2 mu chain) (Adaptor protein complex AP-2 subunit mu) (Adaptor-related protein complex 2 subunit mu) (Clathrin assembly protein complex 2 mu medium chain) (Clathrin coat assembly protein AP50) (Clathrin coat-associated protein AP50) (Mu2-adaptin) (Plasma membrane adaptor AP-2 50 kDa protein)
[Ap2s1 Ap17 Claps2] AP-2 complex subunit sigma (Adaptor protein complex AP-2 subunit sigma) (Adaptor-related protein complex 2 subunit sigma) (Clathrin assembly protein 2 sigma small chain) (Clathrin coat assembly protein AP17) (Clathrin coat-associated protein AP17) (Plasma membrane adaptor AP-2 17 kDa protein) (Sigma-adaptin 3b) (Sigma2-adaptin)
[AP1S1 AP19 CLAPS1] AP-1 complex subunit sigma-1A (Adaptor protein complex AP-1 subunit sigma-1A) (Adaptor-related protein complex 1 subunit sigma-1A) (Clathrin assembly protein complex 1 sigma-1A small chain) (Clathrin coat assembly protein AP19) (Golgi adaptor HA1/AP1 adaptin sigma-1A subunit) (HA1 19 kDa subunit) (Sigma 1a subunit of AP-1 clathrin) (Sigma-adaptin 1A) (Sigma1A-adaptin)
[AP2A2 ADTAB CLAPA2 HIP9 HYPJ KIAA0899] AP-2 complex subunit alpha-2 (100 kDa coated vesicle protein C) (Adaptor protein complex AP-2 subunit alpha-2) (Adaptor-related protein complex 2 subunit alpha-2) (Alpha-adaptin C) (Alpha2-adaptin) (Clathrin assembly protein complex 2 alpha-C large chain) (Huntingtin yeast partner J) (Huntingtin-interacting protein 9) (HIP-9) (Huntingtin-interacting protein J) (Plasma membrane adaptor HA2/AP2 adaptin alpha C subunit)
[pep NCU02549] Mitochondrial-processing peptidase subunit beta (EC 3.4.24.64) (Beta-MPP) (Complex III subunit I) (Core protein I) (Cytochrome b-c1 complex subunit 1, mitochondrial) (Processing enhancing protein) (Ubiquinol-cytochrome c oxidoreductase core protein 1) (Ubiquinol-cytochrome c reductase complex 50 kDa protein)

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