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Q96M11 (HYLS1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 83. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Hydrolethalus syndrome protein 1
Gene names
Name:HYLS1
Synonyms:HLS
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length299 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Subcellular location

Cytoplasm Ref.4.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4

Sequence similarities

Belongs to the HYLS1 family.

Sequence caution

The sequence AAH15047.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Cellular componentCytoplasm
   Coding sequence diversityPolymorphism
   DiseaseCiliopathy
Disease mutation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentcentrosome

Inferred from direct assay PubMed 21399614. Source: UniProtKB

cytoplasm

Inferred from direct assay. Source: HPA

nucleus

Inferred from direct assay Ref.4. Source: MGI

plasma membrane

Inferred from direct assay. Source: HPA

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 299299Hydrolethalus syndrome protein 1
PRO_0000284925

Natural variations

Natural variant311C → R. Ref.1 Ref.3
Corresponds to variant rs667782 [ dbSNP | Ensembl ].
VAR_031866
Natural variant2111D → G in HLS1; altered subcellular localization, becomes localized to nuclear structures. Ref.4
Corresponds to variant rs104894232 [ dbSNP | Ensembl ].
VAR_031867

Sequences

Sequence LengthMass (Da)Tools
Q96M11 [UniParc].

Last modified December 1, 2001. Version 1.
Checksum: D1EAF5F7D638802D

FASTA29934,359
        10         20         30         40         50         60 
MEELLPDGQI WANMDPEERM LAAATAFTHI CAGQGEGDVR REAQSIQYDP YSKASVAPGK 

        70         80         90        100        110        120 
RPALPVQLQY PHVESNVPSE TVSEASQRLR KPVMKRKVLR RKPDGEVLVT DESIISESES 

       130        140        150        160        170        180 
GTENDQDLWD LRQRLMNVQF QEDKESSFDV SQKFNLPHEY QGISQDQLIC SLQREGMGSP 

       190        200        210        220        230        240 
AYEQDLIVAS RPKSFILPKL DQLSRNRGKT DRVARYFEYK RDWDSIRLPG EDHRKELRWG 

       250        260        270        280        290 
VREQMLCRAE PQSKPQHIYV PNNYLVPTEK KRSALRWGVR CDLANGVIPR KLPFPLSPS 

« Hide

References

« Hide 'large scale' references
[1]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ARG-31.
Tissue: Testis and Thalamus.
[2]"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. expand/collapse author list , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y.
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ARG-31.
Tissue: Uterus.
[4]"Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1."
Mee L., Honkala H., Kopra O., Vesa J., Finnilae S., Visapaeae I., Sang T.-K., Jackson G.R., Salonen R., Kestilae M., Peltonen L.
Hum. Mol. Genet. 14:1475-1488(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HLS1 GLY-211, CHARACTERIZATION OF VARIANT HLS1 GLY-211, SUBCELLULAR LOCATION.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK057477 mRNA. Translation: BAB71503.1.
AK127394 mRNA. Translation: BAG54500.1.
AP000842 Genomic DNA. No translation available.
BC015047 mRNA. Translation: AAH15047.1. Different initiation.
RefSeqNP_001128265.1. NM_001134793.1.
NP_659451.1. NM_145014.2.
XP_005271487.1. XM_005271430.1.
UniGeneHs.98133.

3D structure databases

ProteinModelPortalQ96M11.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid128581. 3 interactions.
IntActQ96M11. 1 interaction.
MINTMINT-1376776.
STRING9606.ENSP00000348815.

PTM databases

PhosphoSiteQ96M11.

Polymorphism databases

DMDM74732277.

Proteomic databases

PaxDbQ96M11.
PeptideAtlasQ96M11.
PRIDEQ96M11.

Protocols and materials databases

DNASU219844.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000356438; ENSP00000348815; ENSG00000198331.
ENST00000425380; ENSP00000414884; ENSG00000198331.
ENST00000526028; ENSP00000436833; ENSG00000198331.
GeneID219844.
KEGGhsa:219844.
UCSCuc001qcx.4. human.

Organism-specific databases

CTD219844.
GeneCardsGC11P125753.
HGNCHGNC:26558. HYLS1.
HPAHPA041210.
MIM236680. phenotype.
610693. gene.
neXtProtNX_Q96M11.
Orphanet2189. Hydrolethalus.
PharmGKBPA142671669.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG76010.
HOGENOMHOG000112979.
HOVERGENHBG107985.
InParanoidQ96M11.
KOK16472.
OMARYFEYKR.
OrthoDBEOG72C51J.
PhylomeDBQ96M11.
TreeFamTF336132.

Gene expression databases

BgeeQ96M11.
CleanExHS_HYLS1.
GenevestigatorQ96M11.

Family and domain databases

InterProIPR026227. HYLS1.
IPR027918. HYLS1_C_dom.
[Graphical view]
PfamPF15311. HYLS1_C. 1 hit.
[Graphical view]
PRINTSPR02098. HYLETHALUSS1.
ProtoNetSearch...

Other

GeneWikiHYLS1.
GenomeRNAi219844.
NextBio90768.
PROQ96M11.
SOURCESearch...

Entry information

Entry nameHYLS1_HUMAN
AccessionPrimary (citable) accession number: Q96M11
Secondary accession number(s): B3KXI8, Q96BX9
Entry history
Integrated into UniProtKB/Swiss-Prot: May 1, 2007
Last sequence update: December 1, 2001
Last modified: April 16, 2014
This is version 83 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM