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Q9Y5L2

- HLPDA_HUMAN

UniProt

Q9Y5L2 - HLPDA_HUMAN

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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

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. 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
Complete GO annotation...

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
Complete GO annotation...

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. 1 Publication
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.
GeneTreeiENSGT00390000014201.
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

        10         20         30         40         50
MKHVLNLYLL GVVLTLLSIF VRVMESLEGL LESPSPGTSW TTRSQLANTE
60
PTKGLPDHPS RSM
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 GC07P128123.
HGNCi HGNC:28859. HILPDA.
HPAi HPA010515.
neXtProti NX_Q9Y5L2.
PharmGKBi PA164717457.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG40721.
GeneTreei ENSGT00390000014201.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 99 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