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

Gene ID: 219844, updated on 13-Mar-2020

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
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

Genomic context

See HYLS1 in Genome Data Viewer
Location:
11q24.2
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (125883614..125900646)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (125753509..125770541)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369552 Neighboring gene prostate and testis expressed 4 Neighboring gene pseudouridine synthase 3 Neighboring gene DEAD-box helicase 25 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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ32915

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
hydrolethalus syndrome protein 1
Names
hydrolethalus syndrome 1

NCBI Reference Sequences (RefSeq)

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  hydrolethalus syndrome protein 1

    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
    Q96M11
    UniProtKB/TrEMBL
    A0A024R3K0
    Related
    ENSP00000414884.2, ENST00000425380.6
    Conserved Domains (1) summary
    pfam15311
    Location:198284
    HYLS1_C; Hydrolethalus syndrome protein 1 C-terminus
  2. NM_001377269.1NP_001364198.1  hydrolethalus syndrome protein 1

    Status: REVIEWED

    Source sequence(s)
    AP000842, CD705002
  3. NM_001377270.1NP_001364199.1  hydrolethalus syndrome protein 1

    Status: REVIEWED

    Source sequence(s)
    AP000842, BU159110
  4. NM_145014.2NP_659451.1  hydrolethalus syndrome protein 1

    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
    Q96M11
    UniProtKB/TrEMBL
    A0A024R3K0
    Related
    ENSP00000348815.3, ENST00000356438.7
    Conserved Domains (1) summary
    pfam15311
    Location:198284
    HYLS1_C; Hydrolethalus syndrome protein 1 C-terminus

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011542659.2XP_011540961.1  hydrolethalus syndrome protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011540961.1

    UniProtKB/Swiss-Prot
    Q96M11
    UniProtKB/TrEMBL
    A0A024R3K0
    Conserved Domains (1) summary
    pfam15311
    Location:198284
    HYLS1_C; Hydrolethalus syndrome protein 1 C-terminus
  2. XM_017017320.1XP_016872809.1  hydrolethalus syndrome protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q96M11
    UniProtKB/TrEMBL
    A0A024R3K0
    Conserved Domains (1) summary
    pfam15311
    Location:198284
    HYLS1_C; Hydrolethalus syndrome protein 1 C-terminus
  3. XM_017017321.1XP_016872810.1  hydrolethalus syndrome protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q96M11
    UniProtKB/TrEMBL
    A0A024R3K0
    Conserved Domains (1) summary
    pfam15311
    Location:198284
    HYLS1_C; Hydrolethalus syndrome protein 1 C-terminus
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