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

    Gene ID: 219844, updated on 23-Nov-2023

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See HYLS1 in Genome Data Viewer
    Location:
    11q24.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (125883614..125900646)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (125912495..125929517)
    105.20220307 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 uncharacterized LOC124902781 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

    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

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001134793.2NP_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:198284
      HYLS1_C; Hydrolethalus syndrome protein 1 C-terminus
    2. NM_001377269.1NP_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:198284
      HYLS1_C; Hydrolethalus syndrome protein 1 C-terminus
    3. NM_001377270.1NP_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:198284
      HYLS1_C; Hydrolethalus syndrome protein 1 C-terminus
    4. NM_001424364.1NP_001411293.1  centriolar and ciliogenesis-associated protein HYLS1

      Status: REVIEWED

      Source sequence(s)
      AP000842
      UniProtKB/Swiss-Prot
      B3KXI8, Q96BX9, Q96M11
    5. NM_001424366.1NP_001411295.1  centriolar and ciliogenesis-associated protein HYLS1

      Status: REVIEWED

      Source sequence(s)
      CP068267
      UniProtKB/Swiss-Prot
      B3KXI8, Q96BX9, Q96M11
    6. NM_001424367.1NP_001411296.1  centriolar and ciliogenesis-associated protein HYLS1

      Status: REVIEWED

      Source sequence(s)
      CP068267
      UniProtKB/Swiss-Prot
      B3KXI8, Q96BX9, Q96M11
    7. NM_001424368.1NP_001411297.1  centriolar and ciliogenesis-associated protein HYLS1

      Status: REVIEWED

      Source sequence(s)
      CP068267
      UniProtKB/Swiss-Prot
      B3KXI8, Q96BX9, Q96M11
    8. NM_001424369.1NP_001411298.1  centriolar and ciliogenesis-associated protein HYLS1

      Status: REVIEWED

      Source sequence(s)
      CP068267
      UniProtKB/Swiss-Prot
      B3KXI8, Q96BX9, Q96M11
    9. NM_001424370.1NP_001411299.1  centriolar and ciliogenesis-associated protein HYLS1

      Status: REVIEWED

      Source sequence(s)
      CP068267
      UniProtKB/Swiss-Prot
      B3KXI8, Q96BX9, Q96M11
    10. NM_001424371.1NP_001411300.1  centriolar and ciliogenesis-associated protein HYLS1

      Status: REVIEWED

      Source sequence(s)
      CP068267
      UniProtKB/Swiss-Prot
      B3KXI8, Q96BX9, Q96M11
    11. NM_145014.3NP_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:198284
      HYLS1_C; Hydrolethalus syndrome protein 1 C-terminus

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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)