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HYLS1
HYLS1 centriolar and ciliogenesis associated
HYLS1 is located on the long (q) arm of chromosome 11, at band 11q24.2. Arm ratio per GRCh38 - banding schematic.
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Overview
HYLS1 (HYLS1 centriolar and ciliogenesis associated) is a human gene located on chromosome 11 that encodes a protein involved in the construction and function of centrioles and cilia. Centrioles are barrel-shaped structures found near the nucleus of most animal cells, acting as organisational centres for microtubules during cell division and serving as the foundation for cilia formation. Cilia are slender, antenna-like projections that extend from the cell surface and play essential roles in sensing environmental cues, coordinating cell signalling, and facilitating fluid movement across tissues. The HYLS1 protein contributes to the structural integrity of these organelles, helping ensure proper cellular organisation and communication during development and throughout life.
What the gene does
The HYLS1 protein is recruited to centrioles, where it participates in the assembly and stabilisation of these structures. Centrioles consist of nine triplet microtubules arranged in a cylindrical pattern, and HYLS1 helps coordinate the proteins required to maintain this architecture. Beyond centriole construction, HYLS1 is involved in ciliogenesis, the process by which cilia are built and maintained. Cilia extend from a structure called the basal body, which is derived from the centriole, and HYLS1 assists in organising the molecular machinery needed for this transition. Proper cilia function is crucial for a range of biological processes, including the establishment of left-right body asymmetry during embryonic development, sensory perception in specialised cells, and the movement of fluid across epithelial surfaces. When HYLS1 function is compromised, cells may struggle to form functional cilia, potentially disrupting these essential processes.
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Chromosome location
HYLS1 is located on the long arm of chromosome 11 at position 24.2, designated as 11q24.2. This chromosomal region contains numerous genes, and the precise genomic context of HYLS1 contributes to its regulation and expression patterns. Detailed structural information regarding the number of exons and the overall gene architecture has not been fully characterised in publicly available databases.
Protein structure
Domain architecture has not been experimentally characterised in detail for this protein. Current structural annotations do not define specific functional domains within the HYLS1 protein sequence, though its localisation to centrioles and role in ciliogenesis suggest it contains regions that mediate protein-protein interactions and enable recruitment to these subcellular compartments.
Key variants
Genetic variants in HYLS1 can alter the protein's ability to support centriole and cilia assembly. Changes that disrupt protein stability, localisation, or interactions with binding partners may reduce the efficiency of ciliogenesis. The functional impact of specific variants depends on their location within the gene and the nature of the amino acid substitution or structural alteration they cause. Not all variants are pathogenic; some represent benign variation within the population.
No pathogenic or likely-pathogenic ClinVar variants recorded yet for this gene.
Associated conditions
Whilst HYLS1 has been studied in the context of centriole and cilia biology, no specific inherited conditions are currently recorded in clinical databases as being directly associated with pathogenic variants in this gene. Research into ciliopathies, a group of disorders caused by defective cilia function, continues to expand our understanding of genes involved in these processes, and future studies may clarify whether HYLS1 variants contribute to clinical phenotypes.
No disease links recorded for this gene in our reference set.
UK clinical status
Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory
Frequently asked questions
What do centrioles and cilia do in the body?
Centrioles help organise the cell's internal structure and are essential during cell division, whilst cilia act as cellular antennae that detect signals from the environment and coordinate processes such as embryonic development and fluid movement across tissues.
How is HYLS1 inherited?
The inheritance pattern for HYLS1-related variation is not firmly established, as no specific inherited conditions have been definitively linked to pathogenic variants in this gene at present.
Is genetic testing for HYLS1 available on the NHS?
HYLS1 is not currently included in NHS clinical gene panels, reflecting the ongoing research status of this gene and the absence of established disease associations in routine clinical practice.