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XK X-linked Kx blood group antigen, Kell and VPS13A binding protein [ Homo sapiens (human) ]

Gene ID: 7504, updated on 5-Jan-2023

Summary

Official Symbol
XKprovided by HGNC
Official Full Name
X-linked Kx blood group antigen, Kell and VPS13A binding proteinprovided by HGNC
Primary source
HGNC:HGNC:12811
See related
Ensembl:ENSG00000047597 MIM:314850; AllianceGenome:HGNC:12811
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KX; NA; NAC; X1k; XKR1
Summary
This locus controls the synthesis of the Kell blood group 'precursor substance' (Kx). Mutations in this gene have been associated with McLeod syndrome, an X-linked, recessive disorder characterized by abnormalities in the neuromuscular and hematopoietic systems. The encoded protein has structural characteristics of prokaryotic and eukaryotic membrane transport proteins. [provided by RefSeq, Jul 2008]
Expression
Broad expression in colon (RPKM 3.9), small intestine (RPKM 3.0) and 18 other tissues See more
Orthologs
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Genomic context

Location:
Xp21.1
Exon count:
4
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (37685791..37732130)
110 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (37089348..37135703)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (37545044..37591383)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 47 member D, pseudogene Neighboring gene LanC like family member 3 Neighboring gene H2A.L variant histone 1M, pseudogene Neighboring gene cytochrome b-245 beta chain Neighboring gene dynein light chain Tctex-type 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein-macromolecule adaptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
involved_in amino acid transport IEA
Inferred from Electronic Annotation
more info
 
involved_in intracellular calcium ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in intracellular magnesium ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in myelination IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of axon diameter IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of cell size IEA
Inferred from Electronic Annotation
more info
 
involved_in skeletal muscle fiber development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane TAS
Traceable Author Statement
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
endoplasmic reticulum membrane adapter protein XK; membrane transport protein XK
Names
Kell blood group precursor (McLeod phenotype)
Kx antigen
Kx blood group antigen
XK, Kell blood group complex subunit (McLeod syndrome)
XK-related protein 1
kell complex 37 kDa component

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007473.3 RefSeqGene

    Range
    4912..51251
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_812

mRNA and Protein(s)

  1. NM_021083.4NP_066569.1  endoplasmic reticulum membrane adapter protein XK precursor

    See identical proteins and their annotated locations for NP_066569.1

    Status: REVIEWED

    Source sequence(s)
    AY534238, Z32684
    Consensus CDS
    CCDS14241.1
    UniProtKB/Swiss-Prot
    P51811, Q9UC77
    Related
    ENSP00000367879.3, ENST00000378616.5
    Conserved Domains (1) summary
    pfam09815
    Location:6376
    XK-related; XK-related protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    37685791..37732130
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543978.4XP_011542280.1  membrane transport protein XK isoform X1

    Conserved Domains (1) summary
    pfam09815
    Location:6169
    XK-related; XK-related protein

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    37089348..37135703
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)