Membrane transport protein XK - Homo sapiens (Human)

Contribute

Send feedback

Read comments (0) or add your own

Reviewed, UniProtKB/Swiss-Prot P51811 (XK_HUMAN)

Last modified May 5, 2009. Version 73. History...

Clusters with 100%, 90%, 50% identity |

Documents (6) |

Third-party data |

Customize display

text xml rdf/xml gff fasta

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Hide | Top

Names and origin

Protein names

Recommended name:
    Membrane transport protein XK
Alternative name(s):
    Kx antigen
    Kell complex 37 kDa component
    XK-related protein 1

Gene names

Name:	XK
Synonyms:	XKR1, XRG1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Hide | Top

Protein attributes

Sequence length	444 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

Hide | Top

General annotation (Comments)

Function	May be involved in sodium-dependent transport of neutral amino acids or oligopeptides.
Subunit structure	Heterodimer with Kell; disulfide-linked. Ref.7
Subcellular location	Membrane; Multi-pass membrane protein Potential.
Tissue specificity	High levels in skeletal muscle, heart, brain, and pancreas; low levels in placenta, lung, liver, and kidney.
Post-translational modification	Not glycosylated. Ref.6
Polymorphism	XK is responsible for the Kx blood group system.
Involvement in disease	Defects in XK are the cause of McLeod syndrome (MLS) [MIM:314850]. It is an X-linked multisystem disorder characterized by late onset abnormalities in the neuromuscular and hematopoietic systems. Ref.9 Ref.10 Ref.11
Sequence similarities	Belongs to the XK family.

Hide | Top

Ontologies

Keywords
Biological process	Amino-acid transport Transport
Cellular component	Membrane
Disease	Disease mutation
Domain	Transmembrane
Molecular function	Blood group antigen
PTM	Disulfide bond Phosphoprotein
Technical term	Direct protein sequencing
Gene Ontology (GO)
Biological process	amino acid transport Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	integral to membrane Ref.1 Traceable author statement. Source: HGNC
Molecular function	protein binding Ref.6 Inferred from physical interaction. Source: HGNC transporter activity Ref.1 Traceable author statement. Source: ProtInc
Complete GO annotation...

Hide | Top

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 444

444

Membrane transport protein XK

PRO_0000190767

Regions

Topological domain

1 – 2

Cytoplasmic Potential

Transmembrane

3 – 23

Potential

Topological domain

24 – 37

Extracellular Potential

Transmembrane

38 – 58

Potential

Topological domain

59 – 68

Cytoplasmic Potential

Transmembrane

69 – 89

Potential

Topological domain

90 – 140

Extracellular Potential

Transmembrane

141 – 161

Potential

Topological domain

162 – 171

Cytoplasmic Potential

Transmembrane

172 – 192

Potential

Topological domain

193 – 208

Extracellular Potential

Transmembrane

209 – 229

Potential

Topological domain

230 – 235

Cytoplasmic Potential

Transmembrane

236 – 256

Potential

Topological domain

257 – 277

Extracellular Potential

Transmembrane

278 – 298

Potential

Topological domain

299 – 317

Cytoplasmic Potential

Transmembrane

318 – 338

Potential

Topological domain

339 – 349

Extracellular Potential

Transmembrane

350 – 370

Potential

Topological domain

371 – 444

Cytoplasmic Potential

Amino acid modifications

Modified residue

Phosphoserine Ref.8

Disulfide bond

347

Interchain (with C-72 in Kell) Ref.7

Natural variations

Natural variant

222

R → G in MLS. Ref.10

VAR_013817

Natural variant

294

C → R in MLS. Ref.9

VAR_013818

Natural variant

327

E → K in MLS; atypical without hematologic, neuromuscular, or cerebral involvement; protein seems functional. Ref.11

VAR_023581

Experimental info

Mutagenesis

347

C → S: Loss of Kell-XK complex. Ref.7

Sequence conflict

248

F → L Ref.3

Sequence conflict

248

F → L Ref.5

Hide | Top

Sequences

Sequence

Length

Mass (Da)

Tools

P51811-1 [UniParc].

Last modified January 24, 2006. Version 5.
Checksum: 6F90B0B45659A1DA
Show »

FASTA

444

50,902

        10         20         30         40         50         60 
MKFPASVLAS VFLFVAETTA ALSLSSTYRS GGDRMWQALT LLFSLLPCAL VQLTLLFVHR 

        70         80         90        100        110        120 
DLSRDRPLVL LLHLLQLGPL FRCFEVFCIY FQSGNNEEPY VSITKKRQMP KNGLSEEIEK 

       130        140        150        160        170        180 
EVGQAEGKLI THRSAFSRAS VIQAFLGSAP QLTLQLYISV MQQDVTVGRS LLMTISLLSI 

       190        200        210        220        230        240 
VYGALRCNIL AIKIKYDEYE VKVKPLAYVC IFLWRSFEIA TRVVVLVLFT SVLKTWVVVI 

       250        260        270        280        290        300 
ILINFFSFFL YPWILFWCSG SPFPENIEKA LSRVGTTIVL CFLTLLYTGI NMFCWSAVQL 

       310        320        330        340        350        360 
KIDSPDLISK SHNWYQLLVY YMIRFIENAI LLLLWYLFKT DIYMYVCAPL LVLQLLIGYC 

       370        380        390        400        410        420 
TAILFMLVFY QFFHPCKKLF SSSVSEGFQR WLRCFCWACR QQKPCEPIGK EDLQSSRDRD 

       430        440 
ETPSSSKTSP EPGQFLNAED LCSA

« Hide

Hide | Top

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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: 8004674] [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: 15489334] [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: 7737196] [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: 9593744] [Abstract] Cited for: SUBUNIT, DISULFIDE BOND, MUTAGENESIS OF CYS-347.
[8]	"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-63, MASS SPECTROMETRY. Tissue: Epithelium.
[9]	"McLeod neuroacanthocytosis: genotype and phenotype." 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. Ann. Neurol. 50:755-764(2001) [PubMed: 11761473] [Abstract] Cited for: VARIANT MLS ARG-294.
[10]	"Point mutations causing the McLeod phenotype." Russo D.C., Lee S., Reid M.E., Redman C.M. Transfusion 42:287-293(2002) [PubMed: 11961232] [Abstract] Cited for: VARIANT MLS GLY-222.
[11]	"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: 12823753] [Abstract] Cited for: VARIANT MLS LYS-327.
+	Additional computationally mapped references.

Hide | Top

Web resources

GeneReviews

SeattleSNPs

Hide | Top

Cross-references

Sequence databases
	Z32684 mRNA. Translation: CAA83632.2. AY534238 mRNA. Translation: AAT07087.1. DQ062746 Genomic DNA. Translation: AAY43132.1. BC036019 mRNA. Translation: AAH36019.1.
IPI	IPI00020896.
PIR	I39294.
RefSeq	NP_066569.1.
UniGene	Hs.78919
3D structure databases
ModBase	Search...
Protein family/group databases
TCDB	9.B.5.1.1. KX blood-group antigen (KXA) family.
Proteomic databases
PRIDE	P51811.
Genome annotation databases
Ensembl	ENSG00000047597. Homo sapiens. [Contig view]
GeneID	7504.
KEGG	hsa:7504.
Organism-specific databases
GeneCards	GC0XP037430.
H-InvDB	HIX0028449.
HGNC	HGNC:12811. XK.
MIM	314850. gene+phenotype.
Orphanet	59306. McLeod neuroacanthocytosis syndrome.
PharmGKB	PA33162.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	P51811.
HOVERGEN	P51811.
OMA	P51811. GKLFTHR.
Gene expression databases
ArrayExpress	P51811.
Bgee	P51811.
CleanEx	HS_XK.
GermOnline	ENSG00000047597. Homo sapiens.
Family and domain databases
InterPro	IPR018629. Membr_transp_prot_XK-like. [Graphical view]
Pfam	PF09815. XK-related. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	29381.
SOURCE	Search...

Hide | Top

Entry information

Entry name

XK_HUMAN

Accession

Primary (citable) accession number: P51811
Secondary accession number(s): Q4TTN6, Q8IUK6, Q9UC77

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1996
Last sequence update:	January 24, 2006
Last modified:	May 5, 2009
This is version 73 of the entry and version 5 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Hide | Top

Relevant documents

Blood group antigen proteins

Nomenclature of blood group antigens and list of entries

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Sequence annotation (Features)

Molecule processing

Regions

Amino acid modifications

Natural variations

Experimental info

Sequences

References

Web resources

Cross-references

Sequence databases

3D structure databases

Protein family/group databases

Proteomic databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Gene expression databases

Family and domain databases

Other Resources

Entry information

Relevant documents