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P51811

- XK_HUMAN

UniProt

P51811 - XK_HUMAN

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Protein
Membrane transport protein XK
Gene
XK, XKR1, XRG1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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
Complete GO annotation...

GO - Biological processi

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

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 22Cytoplasmic Reviewed prediction
Transmembranei3 – 2321Helical; Reviewed prediction
Add
BLAST
Topological domaini24 – 3714Extracellular Reviewed prediction
Add
BLAST
Transmembranei38 – 5821Helical; Reviewed prediction
Add
BLAST
Topological domaini59 – 6810Cytoplasmic Reviewed prediction
Transmembranei69 – 8921Helical; Reviewed prediction
Add
BLAST
Topological domaini90 – 14051Extracellular Reviewed prediction
Add
BLAST
Transmembranei141 – 16121Helical; Reviewed prediction
Add
BLAST
Topological domaini162 – 17110Cytoplasmic Reviewed prediction
Transmembranei172 – 19221Helical; Reviewed prediction
Add
BLAST
Topological domaini193 – 20816Extracellular Reviewed prediction
Add
BLAST
Transmembranei209 – 22921Helical; Reviewed prediction
Add
BLAST
Topological domaini230 – 2356Cytoplasmic Reviewed prediction
Transmembranei236 – 25621Helical; Reviewed prediction
Add
BLAST
Topological domaini257 – 27721Extracellular Reviewed prediction
Add
BLAST
Transmembranei278 – 29821Helical; Reviewed prediction
Add
BLAST
Topological domaini299 – 31719Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei318 – 33821Helical; Reviewed prediction
Add
BLAST
Topological domaini339 – 34911Extracellular Reviewed prediction
Add
BLAST
Transmembranei350 – 37021Helical; Reviewed prediction
Add
BLAST
Topological domaini371 – 44474Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: HGNC
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.3 Publications
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 XK
PRO_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.1 Publication

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.

Family & Domainsi

Sequence similaritiesi

Belongs to the XK family.

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

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 conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti248 – 2481F → L1 Publication
Sequence conflicti248 – 2481F → L1 Publication

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.
ENST00000601300; ENSP00000469825; ENSG00000269380.
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...

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 .
ENST00000601300 ; ENSP00000469825 ; ENSG00000269380 .
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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 117 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

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