XK Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | XK |
| Official Name | X-linked Kx blood group [Source:HGNC Symbol;Acc:HGNC:12811] |
| Ensembl ID | ENSG00000047597 |
| Bio databases IDs | |
| Aliases | X-linked Kx blood group, Kx antigen, McLeod syndrome |
| Synonyms | 1810038K19Rik, KX, NA, NAC, X1k, XKH, XKR1, X-linked Kx blood group, X-linked Kx blood group antigen, Kell and VPS13A binding protein, XRG1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human XK often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- XK-related protein
- protein binding activity, bridging
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Huntington disease
- infection
- McLeod syndrome
- hereditary disorder
- renal cell carcinoma
- renal cell cancer
- Turner syndrome
- flu
- centronuclear myopathy
- chronic granulomatous disease
role in cell
- size
- abnormal morphology
- myelination
- homeostasis in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cellular membrane
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human XK gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- skeletal muscle fiber development
- regulation of cell size
- myelination
- regulation of axon diameter
- amino acid transport
- cellular magnesium ion homeostasis
- cellular calcium ion homeostasis
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- protein binding, bridging