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

Gene ID: 219844, updated on 17-Sep-2024

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
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Genomic context

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

Expression

  • Project title: HPA RNA-seq normal tissues 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)

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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_001134793.2NP_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_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)