HYLS1

Hydrolethalus syndrome protein 1 is a protein that in humans is encoded by the HYLS1 gene.^[5][6]

HYLS1
Identifiers
Aliases	HYLS1, HLS, centriolar and ciliogenesis associated, HYLS1 centriolar and ciliogenesis associated
External IDs	OMIM: 610693; MGI: 1924082; HomoloGene: 82283; GeneCards: HYLS1; OMA:HYLS1 - orthologs
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11q24.2 Start 125,883,614 bp[1] End 125,900,646 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9|9 A4 Start 35,472,116 bp[2] End 35,481,694 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in oocyte secondary oocyte sperm gonad testicle right testis left testis ventricular zone mucosa of ileum ganglionic eminence Top expressed in spermatocyte seminiferous tubule zygote spermatid secondary oocyte hand genital tubercle ventricular zone tail of embryo primary oocyte More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding Cellular component cytoplasm nucleus centrosome plasma membrane cytosol centriole cytoskeleton cilium cell projection non-motile cilium microtubule organizing center Biological process cilium assembly cell projection organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 219844 76832 Ensembl ENSG00000198331 ENSMUSG00000050555 UniProt Q96M11 Q9CXX0 RefSeq (mRNA) NM_001134793 NM_145014 NM_001377269 NM_001377270 NM_029762 RefSeq (protein) NP_001128265 NP_659451 NP_001364198 NP_001364199 NP_084038 Location (UCSC) Chr 11: 125.88 – 125.9 Mb Chr 9: 35.47 – 35.48 Mb PubMed search [3] [4]
Wikidata
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Function

Hyls1 is incorporated into centrioles as they are formed but is not required for centriole assembly. However Hyls1 is required for the formation of cilia.^[7]

Clinical significance

Mutations in this gene are associated with hydrolethalus syndrome.^[6]