XK (X-linked Kx blood group antigen, Kell and VPS13A binding protein) - Rat Genome Database

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Gene: XK (X-linked Kx blood group antigen, Kell and VPS13A binding protein) Sus scrofa
Analyze
Symbol: XK
Name: X-linked Kx blood group antigen, Kell and VPS13A binding protein
RGD ID: 14214844
Description: ENCODES a protein that exhibits protein-macromolecule adaptor activity (inferred); INVOLVED IN intracellular calcium ion homeostasis (ortholog); intracellular magnesium ion homeostasis (ortholog); myelination (ortholog); ASSOCIATED WITH autistic disorder (ortholog); disease of mental health (ortholog); genetic disease (ortholog); FOUND IN plasma membrane (ortholog)
Type: protein-coding
RefSeq Status: MODEL
Previously known as: membrane transport protein XK; X-linked Kx blood group; X-linked Kx blood group (McLeod syndrome)
RGD Orthologs
Human
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: Sscrofa11.1 - Pig Sscrofa11.1 Assembly
Position:
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX33,544,731 - 33,602,574 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X33,544,287 - 33,602,576 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X37,205,690 - 37,263,628 (+)NCBISscrofa10.2Sscrofa10.2susScr3
JBrowse: View Region in Genome Browser (JBrowse)
Model



  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
XKPighematopoietic system disease  ISOXK (Homo sapiens)9068941McLeod syndrome and OMIM:314850 RGDPMID:8004674 and REF_RGD_ID:1354522
1 to 10 of 10 rows
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
XKPigautistic disorder  ISOXK (Homo sapiens)8554872ClinVar Annotator: match by term: AutismClinVarPMID:21681106 and PMID:30208311
XKPiggenetic disease  ISOXK (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:25741868 and PMID:28492532
XKPigisolated elevated serum creatine phosphokinase levels  ISOXK (Homo sapiens)8554872ClinVar Annotator: match by term: Elevated serum creatine phosphokinaseClinVar 
XKPigMcLeod syndrome  ISOXK (Homo sapiens)8554872ClinVar more ...ClinVarPMID:10426139 more ...
XKPigNeurodevelopmental Disorders  ISOXK (Homo sapiens)8554872ClinVar Annotator: match by term: Neurodevelopmental disorderClinVarPMID:25741868
XKPigornithine carbamoyltransferase deficiency  ISOXK (Homo sapiens)8554872ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiencyClinVarPMID:10946359 more ...
XKPigprimary ciliary dyskinesia  ISOXK (Homo sapiens)8554872ClinVar Annotator: match by term: Primary ciliary dyskinesiaClinVarPMID:10946359 more ...
XKPigretinitis pigmentosa 3  ISOXK (Homo sapiens)8554872ClinVar Annotator: match by term: Retinitis pigmentosa 3ClinVar 
XKPigsyndromic X-linked intellectual disability Lubs type  ISOXK (Homo sapiens)8554872ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs typeClinVarPMID:25741868
XKPigX-linked chronic granulomatous disease  ISOXK (Homo sapiens)8554872ClinVar Annotator: match by term: Granulomatous disease more ...ClinVarPMID:20729109 more ...
1 to 10 of 10 rows
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
XKPigdisease of mental health  ISOXK (Homo sapiens)9068941CTD Direct Evidence: marker/mechanismCTDPMID:11261514
XKPighematopoietic system disease  ISOXK (Homo sapiens)9068941CTD Direct Evidence: marker/mechanismCTDPMID:8004674 and PMID:8619554
XKPigmovement disease  ISOXK (Homo sapiens)9068941CTD Direct Evidence: marker/mechanismCTDPMID:11261514
XKPigneuroacanthocytosis  ISOXK (Homo sapiens)9068941CTD Direct Evidence: marker/mechanismCTDPMID:11761473 and PMID:8619554
XKPigneuromuscular disease  ISOXK (Homo sapiens)9068941CTD Direct Evidence: marker/mechanismCTDPMID:8004674 and PMID:8619554
XKPigperipheral nervous system disease  ISOXK (Homo sapiens)9068941CTD Direct Evidence: marker/mechanismCTDPMID:11761473
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
XKPigMcLeod syndrome  ISOXK (Homo sapiens)7240710 OMIM 


Biological Process

  

Cellular Component

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
XKPigendoplasmic reticulum membrane located_inIEAUniProtKB:P51811 and ensembl:ENSP00000367879150520179 EnsemblGO_REF:0000107
XKPigmembrane located_inIEAUniProtKB-KW:KW-0472150520179 UniProtGO_REF:0000043
XKPigmembrane located_inIEAUniProtKB-SubCell:SL-0162150520179 UniProtGO_REF:0000044
XKPigmembrane located_inIEAInterPro:IPR018629150520179 InterProGO_REF:0000002
XKPigmembrane located_inIEAUniRule:UR000111496150520179 UniProtGO_REF:0000104
XKPigplasma membrane located_inIEAUniProtKB:P51811 and ensembl:ENSP00000367879150520179 EnsemblGO_REF:0000107
XKPigplasma membrane is_active_inISOXk (Mus musculus)9068941 PMID:25231987UniProtPMID:25231987
XKPigplasma membrane located_inIEAARBA:ARBA00027801150520179 UniProtGO_REF:0000117

Molecular Function

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
XKPigprotein binding enablesISOUniProtKB:P232769068941 PMID:7737196HGNC-UCLPMID:7737196
XKPigprotein-macromolecule adaptor activity enablesIEAUniProtKB:P51811 and ensembl:ENSP00000367879150520179 EnsemblGO_REF:0000107

PMID:22301074  



XK
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX33,544,731 - 33,602,574 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X33,544,287 - 33,602,576 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X37,205,690 - 37,263,628 (+)NCBISscrofa10.2Sscrofa10.2susScr3
XK
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X37,685,791 - 37,732,130 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX37,685,791 - 37,732,130 (+)EnsemblGRCh38hg38GRCh38
GRCh37X37,545,044 - 37,591,383 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X37,430,052 - 37,476,322 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X37,301,324 - 37,347,594NCBI
CeleraX41,682,795 - 41,729,061 (+)NCBICelera
Cytogenetic MapXp21.1NCBI
HuRefX35,290,888 - 35,336,107 (+)NCBIHuRef
CHM1_1X37,576,264 - 37,622,522 (+)NCBICHM1_1
T2T-CHM13v2.0X37,089,348 - 37,135,703 (+)NCBIT2T-CHM13v2.0
Xk
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X9,139,023 - 9,179,484 (+)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX9,138,995 - 9,179,489 (+)EnsemblGRCm39 Ensembl
GRCm38X9,272,784 - 9,313,245 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX9,272,756 - 9,313,250 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X8,849,910 - 8,890,371 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X8,429,873 - 8,468,132 (+)NCBIMGSCv36mm8
CeleraX7,012,285 - 7,052,336 (+)NCBICelera
Cytogenetic MapXA1.1NCBI
cM MapX4.22NCBI
Xk
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X16,108,913 - 16,145,322 (-)NCBIGRCr8
mRatBN7.2X13,436,412 - 13,472,830 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX13,436,418 - 13,472,830 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX13,623,720 - 13,660,104 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X17,120,655 - 17,157,035 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X13,377,235 - 13,413,615 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X14,497,376 - 14,534,479 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX14,498,119 - 14,534,473 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X15,278,669 - 15,315,169 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X25,591,152 - 25,624,913 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1X25,644,621 - 25,678,382 (-)NCBI
CeleraX13,951,523 - 13,985,552 (+)NCBICelera
Cytogenetic MapXq12NCBI
Xk
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955587668,070 - 728,959 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955587668,871 - 725,829 (+)NCBIChiLan1.0ChiLan1.0
XK
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X39,334,500 - 39,381,063 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X39,337,936 - 39,384,437 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X30,136,046 - 30,182,541 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X37,846,539 - 37,892,348 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX37,846,539 - 37,892,348 (+)Ensemblpanpan1.1panPan2
XK
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X32,453,404 - 32,498,145 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX32,453,570 - 32,495,110 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX19,801,126 - 19,845,752 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X32,491,214 - 32,543,437 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX32,491,295 - 32,540,402 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X32,578,961 - 32,624,840 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X32,544,040 - 32,588,642 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X32,592,018 - 32,636,881 (+)NCBIUU_Cfam_GSD_1.0
Xk
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X24,691,389 - 24,745,510 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365024,532,100 - 4,587,439 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365024,532,100 - 4,584,931 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
XK
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Vero_WHO_p1.0NW_02366605638,148,973 - 38,193,937 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Xk
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476217,856,731 - 17,914,938 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476217,856,746 - 17,915,975 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

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Variants in XK
1407 total Variants



alimentary part of gastrointestinal system
circulatory system
ectoderm
endocrine system
endoderm
hemolymphoid system
mesenchyme
mesoderm
nervous system
renal system
reproductive system
respiratory system
10 4 23 3 2 5 13 12 23 2 6 3



Ensembl Acc Id: ENSSSCT00000065377   ⟹   ENSSSCP00000055669
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.1 EnsemblX33,544,730 - 33,599,834 (+)Ensembl
Ensembl Acc Id: ENSSSCT00000065925   ⟹   ENSSSCP00000032000
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.1 EnsemblX33,544,731 - 33,602,574 (+)Ensembl
RefSeq Acc Id: XM_003135014   ⟹   XP_003135062
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.1X33,544,287 - 33,602,576 (+)NCBI
Sequence:
RefSeq Acc Id: XP_003135062   ⟸   XM_003135014
- UniProtKB: A0A286ZKL8 (UniProtKB/TrEMBL),   A0A4X1VJC2 (UniProtKB/TrEMBL),   A0A8D0VNX5 (UniProtKB/TrEMBL),   A0A8D1GTF7 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSSSCP00000055669   ⟸   ENSSSCT00000065377
Ensembl Acc Id: ENSSSCP00000032000   ⟸   ENSSSCT00000065925



1 to 37 of 37 rows
Database
Acc Id
Source(s)
Ensembl Genes ENSSSCG00000031868 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
  ENSSSCG00015061069 UniProtKB/TrEMBL
  ENSSSCG00025061802 UniProtKB/TrEMBL
  ENSSSCG00030014869 UniProtKB/TrEMBL
  ENSSSCG00035013562 UniProtKB/TrEMBL
  ENSSSCG00045004775 UniProtKB/TrEMBL
  ENSSSCG00050028990 UniProtKB/TrEMBL
  ENSSSCG00055021356 UniProtKB/TrEMBL
  ENSSSCG00060004584 UniProtKB/TrEMBL
  ENSSSCG00065026719 UniProtKB/TrEMBL
  ENSSSCG00070024291 UniProtKB/TrEMBL
Ensembl Transcript ENSSSCT00000065925 ENTREZGENE
  ENSSSCT00000065925.3 UniProtKB/TrEMBL
  ENSSSCT00015081565.1 UniProtKB/TrEMBL
  ENSSSCT00025084610.1 UniProtKB/TrEMBL
  ENSSSCT00030020507.1 UniProtKB/TrEMBL
  ENSSSCT00030020512.1 UniProtKB/TrEMBL
  ENSSSCT00035017120.1 UniProtKB/TrEMBL
  ENSSSCT00045007871.1 UniProtKB/TrEMBL
  ENSSSCT00045007872.1 UniProtKB/TrEMBL
  ENSSSCT00050038962.1 UniProtKB/TrEMBL
  ENSSSCT00055041955.1 UniProtKB/TrEMBL
  ENSSSCT00060005687.1 UniProtKB/TrEMBL
  ENSSSCT00065035937.1 UniProtKB/TrEMBL
  ENSSSCT00065035938.1 UniProtKB/TrEMBL
  ENSSSCT00070048508.1 UniProtKB/TrEMBL
InterPro XK-rel UniProtKB/TrEMBL
  XK-related_adapter UniProtKB/TrEMBL
KEGG Report ssc:100511169 UniProtKB/TrEMBL
NCBI Gene XK ENTREZGENE
PANTHER MEMBRANE TRANSPORT PROTEIN XK UniProtKB/TrEMBL
  MEMBRANE TRANSPORT PROTEIN XK FAMILY MEMBER UniProtKB/TrEMBL
Pfam XK-related UniProtKB/TrEMBL
UniProt A0A286ZKL8 ENTREZGENE, UniProtKB/TrEMBL
  A0A4X1VJC2 ENTREZGENE, UniProtKB/TrEMBL
  A0A8D0VNX5 ENTREZGENE, UniProtKB/TrEMBL
  A0A8D1GTF7 ENTREZGENE, UniProtKB/TrEMBL
1 to 37 of 37 rows


Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2022-07-19 XK  X-linked Kx blood group antigen, Kell and VPS13A binding protein  XK  X-linked Kx blood group  Symbol and/or name change 5135510 APPROVED