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

Gene ID: 219844, updated on 5-Mar-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
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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_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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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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. A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome. Oka M, et al. Clin Genet, 2016 Jun. PMID 26830932
  3. Hydrolethalus syndrome: neuropathology of 21 cases confirmed by HYLS1 gene mutation analysis. Paetau A, et al. J Neuropathol Exp Neurol, 2008 Aug. PMID 18648327
  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)

Genotypes

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_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)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96M11.1 GenPept UniProtKB/Swiss-Prot:Q96M11

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