Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Hydrolethalus syndrome protein 1

Gene

HYLS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Hydrolethalus syndrome protein 1
Gene namesi
Name:HYLS1
Synonyms:HLS
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000198331.10.
HGNCiHGNC:26558. HYLS1.

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

Cytoplasm

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:rs104894232Ensembl.1

Keywords - Diseasei

Ciliopathy, Disease mutation

Organism-specific databases

DisGeNETi219844.
MalaCardsiHYLS1.
MIMi236680. phenotype.
OpenTargetsiENSG00000198331.
Orphaneti2189. Hydrolethalus.
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.

PTM databases

iPTMnetiQ96M11.
PhosphoSitePlusiQ96M11.

Expressioni

Gene expression databases

BgeeiENSG00000198331.
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.
MINTiMINT-1376776.
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.
OMAiRYFEYKR.
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:rs667782Ensembl.1
Natural variantiVAR_031867211D → G in HLS1; altered subcellular localization, becomes localized to nuclear structures. 1 PublicationCorresponds to variant dbSNP:rs104894232Ensembl.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

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: September 27, 2017
This is version 107 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. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families