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Protein

Hydrolethalus syndrome protein 1

Gene

HYLS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Plays a role in ciliogenesis.By similarity

GO - Biological processi

Keywordsi

Biological processCilium biogenesis/degradation

Names & Taxonomyi

Protein namesi
Recommended name:
Hydrolethalus syndrome protein 1
Gene namesi
Name:HYLS1Imported
Synonyms:HLS
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000198331.10
HGNCiHGNC:26558 HYLS1
MIMi610693 gene
neXtProtiNX_Q96M11

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Hydrolethalus syndrome 1 (HLS1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:236680
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_031867211D → G in HLS1; altered subcellular localization, becomes localized to nuclear structures. 1 PublicationCorresponds to variant dbSNP:rs104894232EnsemblClinVar.1
Defects in HYLS1 may be involved in ciliopathies other than hydrolethalus syndrome 1. A homozygous mutation resulting in a C-terminal extension of 11 residues has been found in patients diagnosed as Joubert syndrome, a ciliopathy presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.1 Publication

Keywords - Diseasei

Ciliopathy, Disease mutation

Organism-specific databases

DisGeNETi219844
MalaCardsiHYLS1
MIMi236680 phenotype
OpenTargetsiENSG00000198331
Orphaneti2189 Hydrolethalus
475 Joubert syndrome
PharmGKBiPA142671669

Polymorphism and mutation databases

BioMutaiHYLS1
DMDMi74732277

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002849251 – 299Hydrolethalus syndrome protein 1Add BLAST299

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei179PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ96M11
MaxQBiQ96M11
PaxDbiQ96M11
PeptideAtlasiQ96M11
PRIDEiQ96M11
ProteomicsDBi77278

PTM databases

iPTMnetiQ96M11
PhosphoSitePlusiQ96M11

Expressioni

Gene expression databases

BgeeiENSG00000198331 Expressed in 160 organ(s), highest expression level in oocyte
CleanExiHS_HYLS1
ExpressionAtlasiQ96M11 baseline and differential
GenevisibleiQ96M11 HS

Organism-specific databases

HPAiHPA041210

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
GOLGA2Q083793EBI-720016,EBI-618309

Protein-protein interaction databases

BioGridi128581, 4 interactors
IntActiQ96M11, 2 interactors
STRINGi9606.ENSP00000348815

Structurei

3D structure databases

ProteinModelPortaliQ96M11
SMRiQ96M11
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the HYLS1 family.Curated

Phylogenomic databases

eggNOGiENOG410J0N2 Eukaryota
ENOG4111UPE LUCA
GeneTreeiENSGT00390000008848
HOGENOMiHOG000112979
HOVERGENiHBG107985
InParanoidiQ96M11
KOiK16472
OMAiRKELRWG
OrthoDBiEOG091G0MVS
PhylomeDBiQ96M11
TreeFamiTF336132

Family and domain databases

InterProiView protein in InterPro
IPR026227 HYLS1
IPR027918 HYLS1_C_dom
PfamiView protein in Pfam
PF15311 HYLS1_C, 1 hit
PRINTSiPR02098 HYLETHALUSS1

Sequencei

Sequence statusi: Complete.

Q96M11-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MEELLPDGQI WANMDPEERM LAAATAFTHI CAGQGEGDVR REAQSIQYDP
60 70 80 90 100
YSKASVAPGK RPALPVQLQY PHVESNVPSE TVSEASQRLR KPVMKRKVLR
110 120 130 140 150
RKPDGEVLVT DESIISESES GTENDQDLWD LRQRLMNVQF QEDKESSFDV
160 170 180 190 200
SQKFNLPHEY QGISQDQLIC SLQREGMGSP AYEQDLIVAS RPKSFILPKL
210 220 230 240 250
DQLSRNRGKT DRVARYFEYK RDWDSIRLPG EDHRKELRWG VREQMLCRAE
260 270 280 290
PQSKPQHIYV PNNYLVPTEK KRSALRWGVR CDLANGVIPR KLPFPLSPS
Length:299
Mass (Da):34,359
Last modified:December 1, 2001 - v1
Checksum:iD1EAF5F7D638802D
GO

Sequence cautioni

The sequence AAH15047 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03186631C → R2 PublicationsCorresponds to variant dbSNP:rs667782EnsemblClinVar.1
Natural variantiVAR_031867211D → G in HLS1; altered subcellular localization, becomes localized to nuclear structures. 1 PublicationCorresponds to variant dbSNP:rs104894232EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK057477 mRNA Translation: BAB71503.1
AK127394 mRNA Translation: BAG54500.1
AP000842 Genomic DNA No translation available.
BC015047 mRNA Translation: AAH15047.1 Different initiation.
CCDSiCCDS8467.1
RefSeqiNP_001128265.1, NM_001134793.1
NP_659451.1, NM_145014.2
XP_005271487.1, XM_005271430.2
XP_006718840.1, XM_006718777.3
XP_011540961.1, XM_011542659.2
XP_016872809.1, XM_017017320.1
XP_016872810.1, XM_017017321.1
UniGeneiHs.98133

Genome annotation databases

EnsembliENST00000356438; ENSP00000348815; ENSG00000198331
ENST00000425380; ENSP00000414884; ENSG00000198331
ENST00000526028; ENSP00000436833; ENSG00000198331
GeneIDi219844
KEGGihsa:219844
UCSCiuc001qcx.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK057477 mRNA Translation: BAB71503.1
AK127394 mRNA Translation: BAG54500.1
AP000842 Genomic DNA No translation available.
BC015047 mRNA Translation: AAH15047.1 Different initiation.
CCDSiCCDS8467.1
RefSeqiNP_001128265.1, NM_001134793.1
NP_659451.1, NM_145014.2
XP_005271487.1, XM_005271430.2
XP_006718840.1, XM_006718777.3
XP_011540961.1, XM_011542659.2
XP_016872809.1, XM_017017320.1
XP_016872810.1, XM_017017321.1
UniGeneiHs.98133

3D structure databases

ProteinModelPortaliQ96M11
SMRiQ96M11
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128581, 4 interactors
IntActiQ96M11, 2 interactors
STRINGi9606.ENSP00000348815

PTM databases

iPTMnetiQ96M11
PhosphoSitePlusiQ96M11

Polymorphism and mutation databases

BioMutaiHYLS1
DMDMi74732277

Proteomic databases

EPDiQ96M11
MaxQBiQ96M11
PaxDbiQ96M11
PeptideAtlasiQ96M11
PRIDEiQ96M11
ProteomicsDBi77278

Protocols and materials databases

DNASUi219844
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000356438; ENSP00000348815; ENSG00000198331
ENST00000425380; ENSP00000414884; ENSG00000198331
ENST00000526028; ENSP00000436833; ENSG00000198331
GeneIDi219844
KEGGihsa:219844
UCSCiuc001qcx.5 human

Organism-specific databases

CTDi219844
DisGeNETi219844
EuPathDBiHostDB:ENSG00000198331.10
GeneCardsiHYLS1
HGNCiHGNC:26558 HYLS1
HPAiHPA041210
MalaCardsiHYLS1
MIMi236680 phenotype
610693 gene
neXtProtiNX_Q96M11
OpenTargetsiENSG00000198331
Orphaneti2189 Hydrolethalus
475 Joubert syndrome
PharmGKBiPA142671669
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410J0N2 Eukaryota
ENOG4111UPE LUCA
GeneTreeiENSGT00390000008848
HOGENOMiHOG000112979
HOVERGENiHBG107985
InParanoidiQ96M11
KOiK16472
OMAiRKELRWG
OrthoDBiEOG091G0MVS
PhylomeDBiQ96M11
TreeFamiTF336132

Miscellaneous databases

GeneWikiiHYLS1
GenomeRNAii219844
PROiPR:Q96M11
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000198331 Expressed in 160 organ(s), highest expression level in oocyte
CleanExiHS_HYLS1
ExpressionAtlasiQ96M11 baseline and differential
GenevisibleiQ96M11 HS

Family and domain databases

InterProiView protein in InterPro
IPR026227 HYLS1
IPR027918 HYLS1_C_dom
PfamiView protein in Pfam
PF15311 HYLS1_C, 1 hit
PRINTSiPR02098 HYLETHALUSS1
ProtoNetiSearch...

Entry informationi

Entry nameiHYLS1_HUMAN
AccessioniPrimary (citable) accession number: Q96M11
Secondary accession number(s): B3KXI8, Q96BX9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 1, 2007
Last sequence update: December 1, 2001
Last modified: November 7, 2018
This is version 113 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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