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Q96M11

- HYLS1_HUMAN

UniProt

Q96M11 - HYLS1_HUMAN

Protein

Hydrolethalus syndrome protein 1

Gene

HYLS1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 87 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
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    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

    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. 3 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.
    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

    MEELLPDGQI WANMDPEERM LAAATAFTHI CAGQGEGDVR REAQSIQYDP    50
    YSKASVAPGK RPALPVQLQY PHVESNVPSE TVSEASQRLR KPVMKRKVLR 100
    RKPDGEVLVT DESIISESES GTENDQDLWD LRQRLMNVQF QEDKESSFDV 150
    SQKFNLPHEY QGISQDQLIC SLQREGMGSP AYEQDLIVAS RPKSFILPKL 200
    DQLSRNRGKT DRVARYFEYK RDWDSIRLPG EDHRKELRWG VREQMLCRAE 250
    PQSKPQHIYV PNNYLVPTEK KRSALRWGVR CDLANGVIPR KLPFPLSPS 299
    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.

    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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. 3 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.
    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

    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 1, 2014
    This is version 87 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