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    HYLS1 HYLS1 centriolar and ciliogenesis associated [ Homo sapiens (human) ]

    Gene ID: 219844, updated on 10-Dec-2024

    Summary

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    Official Symbol
    HYLS1provided by HGNC
    Official Full Name
    HYLS1 centriolar and ciliogenesis associatedprovided by HGNC
    Primary source
    HGNC:HGNC:26558
    See related
    Ensembl:ENSG00000198331 MIM:610693; AllianceGenome:HGNC:26558
    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
    HLS
    Summary
    This gene encodes a protein localized to the cytoplasm. Mutations in this gene are associated with hydrolethalus syndrome. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2008]
    Expression
    Broad expression in testis (RPKM 4.6), duodenum (RPKM 0.9) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HYLS1 in Genome Data Viewer
    Location:
    11q24.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (125883614..125900646)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (125912495..125929517)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (125753509..125770541)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene prostate and testis expressed 4 Neighboring gene long intergenic non-protein coding RNA 3136 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5702 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4042 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4043 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4044 Neighboring gene pseudouridine synthase 3 Neighboring gene DEAD-box helicase 25 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:125802853-125803806 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:125805158-125805722 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4045 Neighboring gene V-set and immunoglobulin domain containing 10 like 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. The first two non-Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome. Ghesh L, et al. Clin Genet, 2021 Oct. PMID 34212369
    2. Hydrolethalus syndrome: neuropathology of 21 cases confirmed by HYLS1 gene mutation analysis. Paetau A, et al. J Neuropathol Exp Neurol, 2008 Aug. PMID 18648327
    3. A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome. Oka M, et al. Clin Genet, 2016 Jun. PMID 26830932
    4. Assignment of the locus for hydrolethalus syndrome to a highly restricted region on 11q23-25. Visapää I, et al. Am J Hum Genet, 1999 Oct. PMID 10486328, Free PMC Article
    5. Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1. Mee L, et al. Hum Mol Genet, 2005 Jun 1. PMID 15843405

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The first two non-Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome.
      Title: The first two non-Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome.
    2. The homozygous mutation of the hydrolethalus syndrome 1 gene (HYLS1) was identified in a consanguinity family in a 17 year old male and his 11 year old younger brother.
      Title: A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    4. Despite variation in the clinicopathologic phenotype, all cases in the series carried the same homozygous missense mutation in HYLS1
      Title: Hydrolethalus syndrome: neuropathology of 21 cases confirmed by HYLS1 gene mutation analysis.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Hydrolethalus syndrome 1
    MedGen: C1856016 OMIM: 236680 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ32915

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in centriole IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in non-motile cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    centriolar and ciliogenesis-associated protein HYLS1
    Names
    hydrolethalus syndrome 1
    hydrolethalus syndrome protein 1

    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_011842.1 RefSeqGene

      Range
      9055..22033
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001134793.2 → NP_001128265.1  centriolar and ciliogenesis-associated protein HYLS1

      See identical proteins and their annotated locations for NP_001128265.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK127394, AP000842
      Consensus CDS
      CCDS8467.1
      UniProtKB/Swiss-Prot
      B3KXI8, Q96BX9, Q96M11
      Related
      ENSP00000414884.2, ENST00000425380.7
      Conserved Domains (1) summary
      pfam15311
      Location:198 → 284
      HYLS1_C; Hydrolethalus syndrome protein 1 C-terminus

    2. NM_001377269.1 → NP_001364198.1  centriolar and ciliogenesis-associated protein HYLS1

      Status: REVIEWED

      Source sequence(s)
      AP000842, CD705002
      Consensus CDS
      CCDS8467.1
      UniProtKB/Swiss-Prot
      B3KXI8, Q96BX9, Q96M11
      Conserved Domains (1) summary
      pfam15311
      Location:198 → 284
      HYLS1_C; Hydrolethalus syndrome protein 1 C-terminus

    3. NM_001377270.1 → NP_001364199.1  centriolar and ciliogenesis-associated protein HYLS1

      Status: REVIEWED

      Source sequence(s)
      AP000842, BU159110
      Consensus CDS
      CCDS8467.1
      UniProtKB/Swiss-Prot
      B3KXI8, Q96BX9, Q96M11
      Conserved Domains (1) summary
      pfam15311
      Location:198 → 284
      HYLS1_C; Hydrolethalus syndrome protein 1 C-terminus

    4. NM_001424364.1 → NP_001411293.1  centriolar and ciliogenesis-associated protein HYLS1

      Status: REVIEWED

      Source sequence(s)
      AP000842
      UniProtKB/Swiss-Prot
      B3KXI8, Q96BX9, Q96M11

    5. NM_001424366.1 → NP_001411295.1  centriolar and ciliogenesis-associated protein HYLS1

      Status: REVIEWED

      Source sequence(s)
      CP068267
      UniProtKB/Swiss-Prot
      B3KXI8, Q96BX9, Q96M11

    6. NM_001424367.1 → NP_001411296.1  centriolar and ciliogenesis-associated protein HYLS1

      Status: REVIEWED

      Source sequence(s)
      CP068267
      UniProtKB/Swiss-Prot
      B3KXI8, Q96BX9, Q96M11

    7. NM_001424368.1 → NP_001411297.1  centriolar and ciliogenesis-associated protein HYLS1

      Status: REVIEWED

      Source sequence(s)
      CP068267
      UniProtKB/Swiss-Prot
      B3KXI8, Q96BX9, Q96M11

    8. NM_001424369.1 → NP_001411298.1  centriolar and ciliogenesis-associated protein HYLS1

      Status: REVIEWED

      Source sequence(s)
      CP068267
      UniProtKB/Swiss-Prot
      B3KXI8, Q96BX9, Q96M11

    9. NM_001424370.1 → NP_001411299.1  centriolar and ciliogenesis-associated protein HYLS1

      Status: REVIEWED

      Source sequence(s)
      CP068267
      UniProtKB/Swiss-Prot
      B3KXI8, Q96BX9, Q96M11

    10. NM_001424371.1 → NP_001411300.1  centriolar and ciliogenesis-associated protein HYLS1

      Status: REVIEWED

      Source sequence(s)
      CP068267
      UniProtKB/Swiss-Prot
      B3KXI8, Q96BX9, Q96M11

    11. NM_145014.3 → NP_659451.1  centriolar and ciliogenesis-associated protein HYLS1

      See identical proteins and their annotated locations for NP_659451.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK057477, AP000842, BM970011
      Consensus CDS
      CCDS8467.1
      UniProtKB/Swiss-Prot
      B3KXI8, Q96BX9, Q96M11
      Related
      ENSP00000348815.3, ENST00000356438.7
      Conserved Domains (1) summary
      pfam15311
      Location:198 → 284
      HYLS1_C; Hydrolethalus syndrome protein 1 C-terminus

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      125883614..125900646
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      125912495..125929517
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96M11.1 GenPept UniProtKB/Swiss-Prot:Q96M11

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