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Q96M11

- HYLS1_HUMAN

UniProt

Q96M11 - HYLS1_HUMAN

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Protein

Hydrolethalus syndrome protein 1

Gene

HYLS1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 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
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:26558. HYLS1.

Subcellular locationi

Cytoplasm 1 Publication

GO - Cellular componenti

  1. centrosome Source: UniProtKB
  2. cytoplasm Source: HPA
  3. nucleus Source: MGI
  4. plasma membrane Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti211 – 2111D → G in HLS1; altered subcellular localization, becomes localized to nuclear structures. 1 Publication
Corresponds to variant rs104894232 [ dbSNP | Ensembl ].
VAR_031867

Keywords - Diseasei

Ciliopathy, Disease mutation

Organism-specific databases

MIMi236680. phenotype.
Orphaneti2189. Hydrolethalus.
PharmGKBiPA142671669.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 299299Hydrolethalus syndrome protein 1PRO_0000284925Add
BLAST

Proteomic databases

MaxQBiQ96M11.
PaxDbiQ96M11.
PeptideAtlasiQ96M11.
PRIDEiQ96M11.

PTM databases

PhosphoSiteiQ96M11.

Expressioni

Gene expression databases

BgeeiQ96M11.
CleanExiHS_HYLS1.
GenevestigatoriQ96M11.

Organism-specific databases

HPAiHPA041210.

Interactioni

Protein-protein interaction databases

BioGridi128581. 4 interactions.
IntActiQ96M11. 1 interaction.
MINTiMINT-1376776.
STRINGi9606.ENSP00000348815.

Structurei

3D structure databases

ProteinModelPortaliQ96M11.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the HYLS1 family.Curated

Phylogenomic databases

eggNOGiNOG76010.
GeneTreeiENSGT00390000008848.
HOGENOMiHOG000112979.
HOVERGENiHBG107985.
InParanoidiQ96M11.
KOiK16472.
OMAiRYFEYKR.
OrthoDBiEOG72C51J.
PhylomeDBiQ96M11.
TreeFamiTF336132.

Family and domain databases

InterProiIPR026227. HYLS1.
IPR027918. HYLS1_C_dom.
[Graphical view]
PfamiPF15311. HYLS1_C. 1 hit.
[Graphical view]
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 AAH15047.1 differs from that shown. Reason: Erroneous initiation. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti31 – 311C → R.2 Publications
Corresponds to variant rs667782 [ dbSNP | Ensembl ].
VAR_031866
Natural varianti211 – 2111D → G in HLS1; altered subcellular localization, becomes localized to nuclear structures. 1 Publication
Corresponds to variant rs104894232 [ dbSNP | Ensembl ].
VAR_031867

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_005271430.1.
XP_006718840.1. XM_006718777.1.
XP_006718841.1. XM_006718778.1.
UniGeneiHs.98133.

Genome annotation databases

EnsembliENST00000356438; ENSP00000348815; ENSG00000198331.
ENST00000425380; ENSP00000414884; ENSG00000198331.
ENST00000526028; ENSP00000436833; ENSG00000198331.
GeneIDi219844.
KEGGihsa:219844.
UCSCiuc001qcx.4. human.

Polymorphism databases

DMDMi74732277.

Keywords - Coding sequence diversityi

Polymorphism

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.
CCDSi CCDS8467.1.
RefSeqi NP_001128265.1. NM_001134793.1.
NP_659451.1. NM_145014.2.
XP_005271487.1. XM_005271430.1.
XP_006718840.1. XM_006718777.1.
XP_006718841.1. XM_006718778.1.
UniGenei Hs.98133.

3D structure databases

ProteinModelPortali Q96M11.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 128581. 4 interactions.
IntActi Q96M11. 1 interaction.
MINTi MINT-1376776.
STRINGi 9606.ENSP00000348815.

PTM databases

PhosphoSitei Q96M11.

Polymorphism databases

DMDMi 74732277.

Proteomic databases

MaxQBi Q96M11.
PaxDbi Q96M11.
PeptideAtlasi Q96M11.
PRIDEi Q96M11.

Protocols and materials databases

DNASUi 219844.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000356438 ; ENSP00000348815 ; ENSG00000198331 .
ENST00000425380 ; ENSP00000414884 ; ENSG00000198331 .
ENST00000526028 ; ENSP00000436833 ; ENSG00000198331 .
GeneIDi 219844.
KEGGi hsa:219844.
UCSCi uc001qcx.4. human.

Organism-specific databases

CTDi 219844.
GeneCardsi GC11P125753.
HGNCi HGNC:26558. HYLS1.
HPAi HPA041210.
MIMi 236680. phenotype.
610693. gene.
neXtProti NX_Q96M11.
Orphaneti 2189. Hydrolethalus.
PharmGKBi PA142671669.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG76010.
GeneTreei ENSGT00390000008848.
HOGENOMi HOG000112979.
HOVERGENi HBG107985.
InParanoidi Q96M11.
KOi K16472.
OMAi RYFEYKR.
OrthoDBi EOG72C51J.
PhylomeDBi Q96M11.
TreeFami TF336132.

Miscellaneous databases

GeneWikii HYLS1.
GenomeRNAii 219844.
NextBioi 90768.
PROi Q96M11.
SOURCEi Search...

Gene expression databases

Bgeei Q96M11.
CleanExi HS_HYLS1.
Genevestigatori Q96M11.

Family and domain databases

InterProi IPR026227. HYLS1.
IPR027918. HYLS1_C_dom.
[Graphical view ]
Pfami PF15311. HYLS1_C. 1 hit.
[Graphical view ]
PRINTSi PR02098. HYLETHALUSS1.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. 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. Cited for: VARIANT HLS1 GLY-211, CHARACTERIZATION OF VARIANT HLS1 GLY-211, SUBCELLULAR LOCATION.

Entry informationi

Entry nameiHYLS1_HUMAN
AccessioniPrimary (citable) accession number: Q96M11
Secondary accession number(s): B3KXI8, Q96BX9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 1, 2007
Last sequence update: December 1, 2001
Last modified: October 29, 2014
This is version 88 of the entry and version 1 of the sequence. [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

External Data

Dasty 3