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P51811

- XK_HUMAN

UniProt

P51811 - XK_HUMAN

Protein

Membrane transport protein XK

Gene

XK

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 118 (01 Oct 2014)
      Sequence version 5 (24 Jan 2006)
      Previous versions | rss
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    Functioni

    May be involved in sodium-dependent transport of neutral amino acids or oligopeptides.

    GO - Molecular functioni

    1. protein binding Source: HGNC
    2. transporter activity Source: ProtInc

    GO - Biological processi

    1. amino acid transport Source: UniProtKB-KW
    2. transport Source: ProtInc

    Keywords - Molecular functioni

    Blood group antigen

    Keywords - Biological processi

    Amino-acid transport, Transport

    Protein family/group databases

    TCDBi2.A.112.1.1. 2.a.112. the kx blood-group antigen (kxa) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Membrane transport protein XK
    Alternative name(s):
    Kell complex 37 kDa component
    Kx antigen
    XK-related protein 1
    Gene namesi
    Name:XK
    Synonyms:XKR1, XRG1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:12811. XK.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: HGNC

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti222 – 2221R → G in MLS. 1 Publication
    VAR_013817
    Natural varianti294 – 2941C → R in MLS. 1 Publication
    Corresponds to variant rs28933690 [ dbSNP | Ensembl ].
    VAR_013818
    Natural varianti327 – 3271E → K in MLS; atypical without hematologic, neuromuscular, or cerebral involvement; protein seems functional. 1 Publication
    VAR_023581

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi347 – 3471C → S: Loss of Kell-XK complex. 1 Publication

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi300842. phenotype.
    Orphaneti59306. McLeod neuroacanthocytosis syndrome.
    PharmGKBiPA37410.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 444444Membrane transport protein XKPRO_0000190767Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi347 – 347Interchain (with C-72 in Kell)1 Publication

    Post-translational modificationi

    Not glycosylated.

    Keywords - PTMi

    Disulfide bond

    Proteomic databases

    MaxQBiP51811.
    PaxDbiP51811.
    PRIDEiP51811.

    PTM databases

    PhosphoSiteiP51811.

    Expressioni

    Tissue specificityi

    High levels in skeletal muscle, heart, brain, and pancreas; low levels in placenta, lung, liver, and kidney.

    Gene expression databases

    ArrayExpressiP51811.
    BgeeiP51811.
    CleanExiHS_XK.
    GenevestigatoriP51811.

    Organism-specific databases

    HPAiHPA019036.

    Interactioni

    Subunit structurei

    Heterodimer with Kell; disulfide-linked.1 Publication

    Protein-protein interaction databases

    BioGridi113341. 4 interactions.
    IntActiP51811. 1 interaction.
    STRINGi9606.ENSP00000367879.

    Structurei

    3D structure databases

    ProteinModelPortaliP51811.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 22CytoplasmicSequence Analysis
    Topological domaini24 – 3714ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini59 – 6810CytoplasmicSequence Analysis
    Topological domaini90 – 14051ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini162 – 17110CytoplasmicSequence Analysis
    Topological domaini193 – 20816ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini230 – 2356CytoplasmicSequence Analysis
    Topological domaini257 – 27721ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini299 – 31719CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini339 – 34911ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini371 – 44474CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei3 – 2321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei38 – 5821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei69 – 8921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei141 – 16121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei172 – 19221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei209 – 22921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei236 – 25621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei278 – 29821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei318 – 33821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei350 – 37021HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the XK family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG149424.
    HOGENOMiHOG000118070.
    HOVERGENiHBG055838.
    InParanoidiP51811.
    OMAiTYRSAGD.
    OrthoDBiEOG7034H1.
    PhylomeDBiP51811.
    TreeFamiTF331465.

    Family and domain databases

    InterProiIPR018629. Transport_prot_XK.
    [Graphical view]
    PfamiPF09815. XK-related. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P51811-1 [UniParc]FASTAAdd to Basket

    « Hide

    MKFPASVLAS VFLFVAETTA ALSLSSTYRS GGDRMWQALT LLFSLLPCAL    50
    VQLTLLFVHR DLSRDRPLVL LLHLLQLGPL FRCFEVFCIY FQSGNNEEPY 100
    VSITKKRQMP KNGLSEEIEK EVGQAEGKLI THRSAFSRAS VIQAFLGSAP 150
    QLTLQLYISV MQQDVTVGRS LLMTISLLSI VYGALRCNIL AIKIKYDEYE 200
    VKVKPLAYVC IFLWRSFEIA TRVVVLVLFT SVLKTWVVVI ILINFFSFFL 250
    YPWILFWCSG SPFPENIEKA LSRVGTTIVL CFLTLLYTGI NMFCWSAVQL 300
    KIDSPDLISK SHNWYQLLVY YMIRFIENAI LLLLWYLFKT DIYMYVCAPL 350
    LVLQLLIGYC TAILFMLVFY QFFHPCKKLF SSSVSEGFQR WLRCFCWACR 400
    QQKPCEPIGK EDLQSSRDRD ETPSSSKTSP EPGQFLNAED LCSA 444
    Length:444
    Mass (Da):50,902
    Last modified:January 24, 2006 - v5
    Checksum:i6F90B0B45659A1DA
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti248 – 2481F → L1 PublicationCurated
    Sequence conflicti248 – 2481F → L(PubMed:15489334)Curated

    Polymorphismi

    XK is responsible for the Kx blood group system.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti222 – 2221R → G in MLS. 1 Publication
    VAR_013817
    Natural varianti294 – 2941C → R in MLS. 1 Publication
    Corresponds to variant rs28933690 [ dbSNP | Ensembl ].
    VAR_013818
    Natural varianti327 – 3271E → K in MLS; atypical without hematologic, neuromuscular, or cerebral involvement; protein seems functional. 1 Publication
    VAR_023581

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Z32684 mRNA. Translation: CAA83632.2.
    AY534238 mRNA. Translation: AAT07087.1.
    DQ062746 Genomic DNA. Translation: AAY43132.1.
    BC036019 mRNA. Translation: AAH36019.1.
    CCDSiCCDS14241.1.
    PIRiI39294.
    RefSeqiNP_066569.1. NM_021083.2.
    UniGeneiHs.78919.

    Genome annotation databases

    EnsembliENST00000378616; ENSP00000367879; ENSG00000047597.
    GeneIDi7504.
    KEGGihsa:7504.
    UCSCiuc004ddq.3. human.

    Polymorphism databases

    DMDMi85700269.

    Cross-referencesi

    Web resourcesi

    SeattleSNPs

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Z32684 mRNA. Translation: CAA83632.2 .
    AY534238 mRNA. Translation: AAT07087.1 .
    DQ062746 Genomic DNA. Translation: AAY43132.1 .
    BC036019 mRNA. Translation: AAH36019.1 .
    CCDSi CCDS14241.1.
    PIRi I39294.
    RefSeqi NP_066569.1. NM_021083.2.
    UniGenei Hs.78919.

    3D structure databases

    ProteinModelPortali P51811.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 113341. 4 interactions.
    IntActi P51811. 1 interaction.
    STRINGi 9606.ENSP00000367879.

    Protein family/group databases

    TCDBi 2.A.112.1.1. 2.a.112. the kx blood-group antigen (kxa) family.

    PTM databases

    PhosphoSitei P51811.

    Polymorphism databases

    DMDMi 85700269.

    Proteomic databases

    MaxQBi P51811.
    PaxDbi P51811.
    PRIDEi P51811.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000378616 ; ENSP00000367879 ; ENSG00000047597 .
    GeneIDi 7504.
    KEGGi hsa:7504.
    UCSCi uc004ddq.3. human.

    Organism-specific databases

    CTDi 7504.
    GeneCardsi GC0XP037545.
    GeneReviewsi XK.
    HGNCi HGNC:12811. XK.
    HPAi HPA019036.
    MIMi 300842. phenotype.
    314850. gene.
    neXtProti NX_P51811.
    Orphaneti 59306. McLeod neuroacanthocytosis syndrome.
    PharmGKBi PA37410.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG149424.
    HOGENOMi HOG000118070.
    HOVERGENi HBG055838.
    InParanoidi P51811.
    OMAi TYRSAGD.
    OrthoDBi EOG7034H1.
    PhylomeDBi P51811.
    TreeFami TF331465.

    Miscellaneous databases

    GenomeRNAii 7504.
    NextBioi 29381.
    PROi P51811.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P51811.
    Bgeei P51811.
    CleanExi HS_XK.
    Genevestigatori P51811.

    Family and domain databases

    InterProi IPR018629. Transport_prot_XK.
    [Graphical view ]
    Pfami PF09815. XK-related. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein."
      Ho M., Chelly J., Carter N., Danek A., Crocker P., Monaco A.P.
      Cell 77:869-880(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. Ho M.
      Submitted (MAY-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: SEQUENCE REVISION TO 204-205.
    3. "A superfamily of XK-related genes (XRG) widely expressed in vertebrates and invertebrates."
      Huang C.-H., Chen Y.
      Submitted (JAN-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    4. SeattleSNPs variation discovery resource
      Submitted (MAY-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Testis.
    6. "Purification and partial characterization of the erythrocyte Kx protein deficient in McLeod patients."
      Khamlichi S., Bailly P., Blanchard D., Goossens D., Cartron J.-P., Bertrand O.
      Eur. J. Biochem. 228:931-934(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 1-22, LACK OF GLYCOSYLATION.
    7. "Association of XK and Kell blood group proteins."
      Russo D., Redman C., Lee S.
      J. Biol. Chem. 273:13950-13956(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBUNIT, DISULFIDE BOND, MUTAGENESIS OF CYS-347.
    8. Cited for: VARIANT MLS ARG-294.
    9. "Point mutations causing the McLeod phenotype."
      Russo D.C., Lee S., Reid M.E., Redman C.M.
      Transfusion 42:287-293(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MLS GLY-222.
    10. "McLeod phenotype associated with a XK missense mutation without hematologic, neuromuscular, or cerebral involvement."
      Jung H.H., Hergersberg M., Vogt M., Pahnke J., Treyer V., Rothlisberger B., Kollias S.S., Russo D., Frey B.M.
      Transfusion 43:928-938(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MLS LYS-327.

    Entry informationi

    Entry nameiXK_HUMAN
    AccessioniPrimary (citable) accession number: P51811
    Secondary accession number(s): Q4TTN6, Q8IUK6, Q9UC77
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1996
    Last sequence update: January 24, 2006
    Last modified: October 1, 2014
    This is version 118 of the entry and version 5 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Blood group antigen proteins
      Nomenclature of blood group antigens and list of entries
    2. Human chromosome X
      Human chromosome X: entries, gene names and cross-references to MIM
    3. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3