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Q9Y5L2

- HLPDA_HUMAN

UniProt

Q9Y5L2 - HLPDA_HUMAN

Protein

Hypoxia-inducible lipid droplet-associated protein

Gene

HILPDA

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

    Increases intracellular lipid accumulation. Stimulates expression of cytokines including IL6, MIF and VEGFA. Enhances cell growth and proliferation.2 Publications

    GO - Molecular functioni

    1. protein binding Source: IntAct
    2. receptor binding Source: BHF-UCL

    GO - Biological processi

    1. autocrine signaling Source: BHF-UCL
    2. positive regulation of cell proliferation Source: BHF-UCL
    3. positive regulation of cytokine production Source: UniProtKB
    4. positive regulation of lipid storage Source: UniProtKB
    5. response to stress Source: UniProtKB

    Keywords - Biological processi

    Stress response

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Hypoxia-inducible lipid droplet-associated protein
    Alternative name(s):
    Hypoxia-inducible gene 2 protein
    Gene namesi
    Name:HILPDA
    Synonyms:C7orf68, HIG2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:28859. HILPDA.

    Subcellular locationi

    GO - Cellular componenti

    1. cell surface Source: BHF-UCL
    2. extracellular space Source: BHF-UCL
    3. integral component of membrane Source: UniProtKB-KW
    4. lipid particle Source: UniProtKB
    5. secretory granule Source: BHF-UCL

    Keywords - Cellular componenti

    Lipid droplet, Membrane, Secreted

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi8 – 92YL → DD: Loss of targeting to lipid droplets and elimination of protein.
    Mutagenesisi41 – 411T → K: No effect on lipid droplet targeting or protein expression; when associated with K-44. 1 Publication
    Mutagenesisi44 – 441S → K: No effect on lipid droplet targeting or protein expression; when associated with K-41. 1 Publication

    Organism-specific databases

    PharmGKBiPA164717457.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 6363Hypoxia-inducible lipid droplet-associated proteinPRO_0000083976Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei44 – 441Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ9Y5L2.
    PaxDbiQ9Y5L2.
    PRIDEiQ9Y5L2.

    PTM databases

    PhosphoSiteiQ9Y5L2.

    Expressioni

    Tissue specificityi

    Highly expressed in renal cell carcinoma cells but barely detectable in adjacent normal kidney tissue. Detected in some cervical and endometrial cancers. Expression also detected in fetal kidney with little or no expression observed in normal adult heart, liver, lung, pancreas, prostate or spinal cord (at protein level).3 Publications

    Inductioni

    By hypoxia but highly abundant under normoxic conditions (at protein level).2 Publications

    Gene expression databases

    BgeeiQ9Y5L2.
    GenevestigatoriQ9Y5L2.

    Organism-specific databases

    HPAiHPA010515.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    FZD10Q9ULW22EBI-8803836,EBI-8803802

    Protein-protein interaction databases

    BioGridi118964. 2 interactions.
    IntActiQ9Y5L2. 1 interaction.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9Y5L2.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei7 – 2317HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 3737Required for targeting to lipid dropletsAdd
    BLAST

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG40721.
    HOGENOMiHOG000112896.
    HOVERGENiHBG001634.
    InParanoidiQ9Y5L2.
    OMAiFIRMMES.
    OrthoDBiEOG7RFTMJ.
    PhylomeDBiQ9Y5L2.

    Family and domain databases

    InterProiIPR026190. Hipoxia_HILPDA.
    [Graphical view]
    PANTHERiPTHR16886. PTHR16886. 1 hit.
    PfamiPF15220. HILPDA. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9Y5L2-1 [UniParc]FASTAAdd to Basket

    « Hide

    MKHVLNLYLL GVVLTLLSIF VRVMESLEGL LESPSPGTSW TTRSQLANTE   50
    PTKGLPDHPS RSM 63
    Length:63
    Mass (Da):6,950
    Last modified:November 1, 1999 - v1
    Checksum:i91EA626A511FC8B7
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti21 – 211V → T in BAD96303. 1 PublicationCurated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF144755 mRNA. Translation: AAD37585.1.
    AK222583 mRNA. Translation: BAD96303.1.
    CH236947 Genomic DNA. Translation: EAL24309.1.
    BC001863 mRNA. Translation: AAH01863.1.
    BC093742 mRNA. Translation: AAH93742.1.
    BC112183 mRNA. Translation: AAI12184.1.
    CCDSiCCDS5802.1.
    RefSeqiNP_001092256.1. NM_001098786.1.
    NP_037464.1. NM_013332.3.
    UniGeneiHs.706124.

    Genome annotation databases

    EnsembliENST00000257696; ENSP00000257696; ENSG00000135245.
    ENST00000435296; ENSP00000388871; ENSG00000135245.
    GeneIDi29923.
    KEGGihsa:29923.
    UCSCiuc003vne.4. human.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF144755 mRNA. Translation: AAD37585.1 .
    AK222583 mRNA. Translation: BAD96303.1 .
    CH236947 Genomic DNA. Translation: EAL24309.1 .
    BC001863 mRNA. Translation: AAH01863.1 .
    BC093742 mRNA. Translation: AAH93742.1 .
    BC112183 mRNA. Translation: AAI12184.1 .
    CCDSi CCDS5802.1.
    RefSeqi NP_001092256.1. NM_001098786.1.
    NP_037464.1. NM_013332.3.
    UniGenei Hs.706124.

    3D structure databases

    ProteinModelPortali Q9Y5L2.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 118964. 2 interactions.
    IntActi Q9Y5L2. 1 interaction.

    PTM databases

    PhosphoSitei Q9Y5L2.

    Proteomic databases

    MaxQBi Q9Y5L2.
    PaxDbi Q9Y5L2.
    PRIDEi Q9Y5L2.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000257696 ; ENSP00000257696 ; ENSG00000135245 .
    ENST00000435296 ; ENSP00000388871 ; ENSG00000135245 .
    GeneIDi 29923.
    KEGGi hsa:29923.
    UCSCi uc003vne.4. human.

    Organism-specific databases

    CTDi 29923.
    GeneCardsi GC07P128117.
    HGNCi HGNC:28859. HILPDA.
    HPAi HPA010515.
    neXtProti NX_Q9Y5L2.
    PharmGKBi PA164717457.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG40721.
    HOGENOMi HOG000112896.
    HOVERGENi HBG001634.
    InParanoidi Q9Y5L2.
    OMAi FIRMMES.
    OrthoDBi EOG7RFTMJ.
    PhylomeDBi Q9Y5L2.

    Miscellaneous databases

    ChiTaRSi HILPDA. human.
    GenomeRNAii 29923.
    NextBioi 52530.
    PROi Q9Y5L2.

    Gene expression databases

    Bgeei Q9Y5L2.
    Genevestigatori Q9Y5L2.

    Family and domain databases

    InterProi IPR026190. Hipoxia_HILPDA.
    [Graphical view ]
    PANTHERi PTHR16886. PTHR16886. 1 hit.
    Pfami PF15220. HILPDA. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Epigenetic regulation of gene expression in cervical cancer cells by the tumor microenvironment."
      Denko N.C., Schindler C., Koong A., Laderoute K., Green C., Giaccia A.J.
      Clin. Cancer Res. 6:480-487(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], INDUCTION.
      Tissue: Cervix carcinoma.
    2. Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
      Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Coronary artery.
    3. "Human chromosome 7: DNA sequence and biology."
      Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S.
      , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
      Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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].
      Tissue: Cerebellum and Lung carcinoma.
    5. "Hypoxia-inducible protein 2 (HIG2), a novel diagnostic marker for renal cell carcinoma and potential target for molecular therapy."
      Togashi A., Katagiri T., Ashida S., Fujioka T., Maruyama O., Wakumoto Y., Sakamoto Y., Fujime M., Kawachi Y., Shuin T., Nakamura Y.
      Cancer Res. 65:4817-4826(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    6. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-44, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    7. "Hypoxia-inducible protein 2 is a novel lipid droplet protein and a specific target gene of hypoxia-inducible factor-1."
      Gimm T., Wiese M., Teschemacher B., Deggerich A., Schodel J., Knaup K.X., Hackenbeck T., Hellerbrand C., Amann K., Wiesener M.S., Honing S., Eckardt K.U., Warnecke C.
      FASEB J. 24:4443-4458(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INDUCTION, MUTAGENESIS OF 8-TRY-LEU-9; THR-41 AND SER-44.
    8. "Expression of hypoxia-inducible 2 (HIG2) protein in uterine cancer."
      Nishimura S., Tsuda H., Nomura H., Kataoka F., Chiyoda T., Tanaka H., Tanaka K., Susumu N., Aoki D.
      Eur. J. Gynaecol. Oncol. 32:146-149(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiHLPDA_HUMAN
    AccessioniPrimary (citable) accession number: Q9Y5L2
    Secondary accession number(s): A4D0Z5, Q52LY5, Q53HJ7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: November 1, 1999
    Last modified: October 1, 2014
    This is version 98 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 7
      Human chromosome 7: entries, gene names and cross-references to MIM

    External Data

    Dasty 3