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Xk Gene Detail
Summary
  • Symbol
    Xk
  • Name
    X-linked Kx blood group
  • Synonyms
    1810038K19Rik, Xk
  • Feature Type
    protein coding gene
  • IDs
    MGI:103569
    NCBI Gene: 22439
Location & Maps
more
  • Genetic Map
    Chromosome X, 4.22 cM
  • Mapping Data
    7 experiments
Homology
more
  • Human Ortholog
    XK, X-linked Kx blood group
  • Vertebrate Orthologs
    10
  • Human Ortholog
    XK, X-linked Kx blood group
    Orthology source: HGNC, HomoloGene
  • Synonyms
    KX, MCLDS, NA, NAC, X1k, XKR1
  • Links
    NCBI Gene ID: 7504
    neXtProt AC: NX_P51811

  • Chr Location
    Xp21.1; chrX:37685781-37732130 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 36393
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: XK
  • Gene Tree
    Xk
Human Diseases
more
  • Diseases
    1 with human XK associations

Human Disease Mouse Models
       Mcleod Syndrome; MCLDS   OMIM: 300842
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    11 phenotypes from 1 allele in 1 genetic background
    13 phenotypes from multigenic genotypes
    5 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    4
  • Targeted
    4
  • Incidental Mutations
Aging homozygous null females exhibit abnormal skeletal muscle fiber morphology and giant axon changes with variable paranodal demyelination in the spinal cord and sciatic nerve. Hemizygous males show increased corpuscular hemoglobin concentration and increased erythrocyte Ca2+ and Mg2+ ion levels.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000016888 VEGA Gene Model | MGI Sequence Detail 40495 C57BL/6J ±  kb
transcript OTTMUST00000040989 VEGA | MGI Sequence Detail 5076 Not Applicable  
polypeptide OTTMUSP00000018348 VEGA | MGI Sequence Detail 446 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    246 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000017481 membrane transport protein XK
  • InterPro Domains
    IPR018629 Transport protein XK
Molecular
Reagents
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  • All nucleic 15
    Genomic 1
    cDNA 13
    Other 1

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-24454, MGI:1916432
References
more
  • Summaries
    All 30
    Developmental Gene Expression 1
    Gene Ontology 4
    Phenotypes 5
  • Earliest
    J:26635 Blair HJ, et al., High-resolution comparative mapping of the proximal region of the mouse X chromosome. Genomics. 1995 Jul 20;28(2):305-10
  • Latest
    J:206464 Zhu X, et al., Giant Axon Formation in Mice Lacking Kell, XK, or Kell and XK: Animal Models of McLeod Neuroacanthocytosis Syndrome. Am J Pathol. 2014 Mar;184(3):800-7

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory