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Aliases for HYLS1 Gene

Aliases for HYLS1 Gene

  • Hydrolethalus Syndrome 1 2 3 5
  • HLS 3 4

External Ids for HYLS1 Gene

Previous GeneCards Identifiers for HYLS1 Gene

  • GC11P125259
  • GC11P125753
  • GC11P121695

Summaries for HYLS1 Gene

Entrez Gene Summary for HYLS1 Gene

  • 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]

GeneCards Summary for HYLS1 Gene

HYLS1 (Hydrolethalus Syndrome 1) is a Protein Coding gene. Diseases associated with HYLS1 include hydrolethalus syndrome and renal-hepatic-pancreatic dysplasia 2.

Gene Wiki entry for HYLS1 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HYLS1 Gene

Genomics for HYLS1 Gene

Regulatory Elements for HYLS1 Gene

Genomic Location for HYLS1 Gene

Chromosome:
11
Start:
125,883,614 bp from pter
End:
125,900,648 bp from pter
Size:
17,035 bases
Orientation:
Plus strand

Genomic View for HYLS1 Gene

Genes around HYLS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HYLS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HYLS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HYLS1 Gene

Proteins for HYLS1 Gene

  • Protein details for HYLS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96M11-HYLS1_HUMAN
    Recommended name:
    Hydrolethalus syndrome protein 1
    Protein Accession:
    Q96M11
    Secondary Accessions:
    • B3KXI8
    • Q96BX9

    Protein attributes for HYLS1 Gene

    Size:
    299 amino acids
    Molecular mass:
    34359 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH15047.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for HYLS1 Gene

Proteomics data for HYLS1 Gene at MOPED

Post-translational modifications for HYLS1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HYLS1 Gene

No data available for DME Specific Peptides for HYLS1 Gene

Domains & Families for HYLS1 Gene

Protein Domains for HYLS1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HYLS1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96M11

UniProtKB/Swiss-Prot:

HYLS1_HUMAN :
  • Belongs to the HYLS1 family.
Family:
  • Belongs to the HYLS1 family.
genes like me logo Genes that share domains with HYLS1: view

No data available for Gene Families for HYLS1 Gene

Function for HYLS1 Gene

genes like me logo Genes that share phenotypes with HYLS1: view

Human Phenotype Ontology for HYLS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for HYLS1 Gene

miRTarBase miRNAs that target HYLS1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for HYLS1 Gene

Localization for HYLS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HYLS1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HYLS1 Gene COMPARTMENTS Subcellular localization image for HYLS1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
plasma membrane 5
cytosol 3
extracellular 1

Gene Ontology (GO) - Cellular Components for HYLS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 15843405
GO:0005737 cytoplasm IDA 15843405
genes like me logo Genes that share ontologies with HYLS1: view

Pathways & Interactions for HYLS1 Gene

SuperPathways for HYLS1 Gene

No Data Available

Interacting Proteins for HYLS1 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000348815%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000416097%0d%0a
Selected Interacting proteins: ENSP00000348815 Q96M11-HYLS1_HUMAN for HYLS1 Gene via STRING I2D MINT UniProtKB

Gene Ontology (GO) - Biological Process for HYLS1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for HYLS1 Gene

Drugs & Compounds for HYLS1 Gene

No Compound Related Data Available

Transcripts for HYLS1 Gene

Unigene Clusters for HYLS1 Gene

Hydrolethalus syndrome 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HYLS1 Gene

No ASD Table

Relevant External Links for HYLS1 Gene

GeneLoc Exon Structure for
HYLS1
ECgene alternative splicing isoforms for
HYLS1

Expression for HYLS1 Gene

mRNA expression in normal human tissues for HYLS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HYLS1 Gene

This gene is overexpressed in Testis (x5.3).

Protein differential expression in normal tissues from HIPED for HYLS1 Gene

This gene is overexpressed in Testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for HYLS1 Gene



SOURCE GeneReport for Unigene cluster for HYLS1 Gene Hs.98133

genes like me logo Genes that share expression patterns with HYLS1: view

Protein tissue co-expression partners for HYLS1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for HYLS1 Gene

Orthologs for HYLS1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HYLS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HYLS1 35
  • 99.55 (n)
  • 99.66 (a)
HYLS1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HYLS1 36
  • 81 (a)
OneToOne
HYLS1 35
  • 88.52 (n)
  • 84.95 (a)
dog
(Canis familiaris)
Mammalia HYLS1 35
  • 90.64 (n)
  • 88.29 (a)
HYLS1 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hyls1 16
Hyls1 36
  • 78 (a)
OneToOne
Hyls1 35
  • 84.5 (n)
  • 81.94 (a)
oppossum
(Monodelphis domestica)
Mammalia HYLS1 36
  • 69 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hyls1 35
  • 84.17 (n)
  • 82.27 (a)
chicken
(Gallus gallus)
Aves HYLS1 35
  • 56.87 (n)
  • 51.03 (a)
lizard
(Anolis carolinensis)
Reptilia HYLS1 36
  • 51 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC100147862 35
  • 47.9 (n)
  • 43.28 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8204 36
  • 27 (a)
OneToOne
Species with no ortholog for HYLS1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HYLS1 Gene

ENSEMBL:
Gene Tree for HYLS1 (if available)
TreeFam:
Gene Tree for HYLS1 (if available)

Paralogs for HYLS1 Gene

No data available for Paralogs for HYLS1 Gene

Variants for HYLS1 Gene

Sequence variations from dbSNP and Humsavar for HYLS1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
VAR_031866 -
VAR_031867 Hydrolethalus syndrome 1 (HLS1)
rs481178 -- 125,890,563(+) ATTTT(A/G)AAGTC intron-variant
rs473208 -- 125,892,490(-) GAGAT(A/G)GAGCT intron-variant
rs544607 -- 125,883,010(-) ccagc(A/C/G)cctgt upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for HYLS1 Gene

Variant ID Type Subtype PubMed ID
esv32964 CNV Gain+Loss 17666407
nsv468888 CNV Loss 19166990
dgv248n67 CNV Gain 20364138

Variation tolerance for HYLS1 Gene

Residual Variation Intolerance Score: 56.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.74; 89.39% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HYLS1 Gene

HapMap Linkage Disequilibrium report
HYLS1
Human Gene Mutation Database (HGMD)
HYLS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HYLS1 Gene

Disorders for HYLS1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for HYLS1 Gene - From: OMIM, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hydrolethalus syndrome
  • salonen-herva-norio syndrome
renal-hepatic-pancreatic dysplasia 2
  • rhpd2
orbital cyst
granulomatous angiitis
  • vasculitis, central nervous system
neonatal abstinence syndrome
  • drug withdrawal syndrome in newborn
- elite association - COSMIC cancer census association via MalaCards
Search HYLS1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HYLS1_HUMAN
  • Hydrolethalus syndrome 1 (HLS1) [MIM:236680]: A lethal syndrome characterized by polydactyly, central nervous system malformation, and hydrocephalus. The polydactyly is postaxial in the hands and preaxial in the feet. A highly characteristic hallux duplex is seen in almost no other situation. In half of the cases, a large atrioventricular communis defect of the heart is found. The pregnancy is characterized by hydramnios, which is often massive, and by preterm delivery. {ECO:0000269 PubMed:15843405}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for HYLS1

Genetic Association Database (GAD)
HYLS1
Human Genome Epidemiology (HuGE) Navigator
HYLS1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HYLS1
genes like me logo Genes that share disorders with HYLS1: view

No data available for Genatlas for HYLS1 Gene

Publications for HYLS1 Gene

  1. Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1. (PMID: 15843405) Mee L. … Peltonen L. (Hum. Mol. Genet. 2005) 2 3 4 23 67
  2. The hydrolethalus syndrome protein HYLS-1 links core centriole structure to cilia formation. (PMID: 19656802) Dammermann A. … Oegema K. (Genes Dev. 2009) 2 3 23
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  5. Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods. (PMID: 21399614) Jakobsen L. … Andersen J.S. (EMBO J. 2011) 3

Products for HYLS1 Gene

Sources for HYLS1 Gene

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