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    HILPDA hypoxia inducible lipid droplet associated [ Homo sapiens (human) ]

    Gene ID: 29923, updated on 27-Nov-2024

    Summary

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    Official Symbol
    HILPDAprovided by HGNC
    Official Full Name
    hypoxia inducible lipid droplet associatedprovided by HGNC
    Primary source
    HGNC:HGNC:28859
    See related
    Ensembl:ENSG00000135245 MIM:617905; AllianceGenome:HGNC:28859
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HIG2; HIG-2; C7orf68
    Summary
    Enables signaling receptor binding activity. Involved in several processes, including autocrine signaling; cellular response to hypoxia; and positive regulation of lipid storage. Located in several cellular components, including cell surface; lipid droplet; and secretory granule. Implicated in colorectal cancer and hepatocellular carcinoma. Biomarker of colorectal cancer and hepatocellular carcinoma. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in esophagus (RPKM 37.4), fat (RPKM 20.9) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HILPDA in Genome Data Viewer
    Location:
    7q32.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (128455878..128458418)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (129767662..129770201)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (128095932..128098472)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ribosomal protein L37 pseudogene 16 Neighboring gene RNA, U7 small nuclear 54 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:128093960-128094666 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26599 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18608 Neighboring gene Sharpr-MPRA regulatory region 9446 Neighboring gene EFCAB3 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26600 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26601 Neighboring gene methyltransferase 2B, tRNA N3-cytidine Neighboring gene MPRA-validated peak6715 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26602 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18609 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18610 Neighboring gene ribosomal protein S10 pseudogene 15

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. HILPDA-mediated lipidomic remodelling promotes radiotherapy resistance in nasopharyngeal carcinoma by accelerating mitophagy. Zhang Y, et al. Cell Mol Life Sci, 2023 Aug 8. PMID 37552373, Free PMC Article
    2. Receptor and secreted targets of Wnt-1/beta-catenin signalling in mouse mammary epithelial cells. Kenny PA, et al. BMC Cancer, 2005 Jan 10. PMID 15642117, Free PMC Article
    3. Hypoxia upregulates HIG2 expression and contributes to bevacizumab resistance in glioblastoma. Mao XG, et al. Oncotarget, 2016 Jul 26. PMID 27329597, Free PMC Article
    4. Over expression of hypoxia-inducible protein 2, hypoxia-inducible factor-1alpha and nuclear factor kappaB is putatively involved in acquired renal cyst formation and subsequent tumor transformation in patients with end stage renal failure. Konda R, et al. J Urol, 2008 Aug. PMID 18550099
    5. Hypoxia-inducible lipid droplet-associated protein inhibits adipose triglyceride lipase. Padmanabha Das KM, et al. J Lipid Res, 2018 Mar. PMID 29326160, Free PMC Article

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FOXS1 acts as an oncogene and induces EMT through FAK/PI3K/AKT pathway by upregulating HILPDA in prostate cancer.
      Title: FOXS1 acts as an oncogene and induces EMT through FAK/PI3K/AKT pathway by upregulating HILPDA in prostate cancer.
    2. Targeting MYC induces lipid droplet accumulation by upregulation of HILPDA in clear cell renal cell carcinoma.
      Title: Targeting MYC induces lipid droplet accumulation by upregulation of HILPDA in clear cell renal cell carcinoma.
    3. HILPDA promotes NASH-driven HCC development by restraining intracellular fatty acid flux in hypoxia.
      Title: HILPDA promotes NASH-driven HCC development by restraining intracellular fatty acid flux in hypoxia.
    4. HILPDA-mediated lipidomic remodelling promotes radiotherapy resistance in nasopharyngeal carcinoma by accelerating mitophagy.
      Title: HILPDA-mediated lipidomic remodelling promotes radiotherapy resistance in nasopharyngeal carcinoma by accelerating mitophagy.
    5. IRF1 promotes the chondrogenesis of human adipose-derived stem cells through regulating HILPDA.
      Title: IRF1 promotes the chondrogenesis of human adipose-derived stem cells through regulating HILPDA.
    6. Downregulation of fatty acid oxidation led by Hilpda increases G2/M arrest/delay-induced kidney fibrosis.
      Title: Downregulation of fatty acid oxidation led by Hilpda increases G2/M arrest/delay-induced kidney fibrosis.
    7. Hypoxia, hypoxia-inducible gene 2 (HIG2)/HILPDA, and intracellular lipolysis in cancer.
      Title: Hypoxia, hypoxia-inducible gene 2 (HIG2)/HILPDA, and intracellular lipolysis in cancer.
    8. Lipidomic analysis revealed not only quantitative but also qualitative differences in the glycerolipid and phospholipid profile of HILPDA wild-type and knockout cells, indicating additional HILPDA functions affecting lipid metabolism.
      Title: HILPDA Regulates Lipid Metabolism, Lipid Droplet Abundance, and Response to Microenvironmental Stress in Solid Tumors.
    9. HIG2 activates the STAT3 signaling pathway in NK cells by promoting IL-10 release by HCC cells, thereby inhibiting the killing activity of NK cells, and subsequently promoting the recurrence and metastasis of HCC.
      Title: Hypoxia-inducible gene 2 promotes the immune escape of hepatocellular carcinoma from nature killer cells through the interleukin-10-STAT3 signaling pathway.
    10. Expression changes in secreted frizzled-related protein 2, stearoyl-CoA desaturase, and hypoxia inducible lipid droplet-associated (HILPDA) with weight loss were confirmed by reverse transcription quantitative polymerase chain reaction. Dietary weight loss induces significant changes in the expression of genes implicated in lipid metabolism (SCD and HILPDA) and WNT-signaling (SFRP2) in subcutaneous adipose tissue.
      Title: Key Genes of Lipid Metabolism and WNT-Signaling Are Downregulated in Subcutaneous Adipose Tissue with Moderate Weight Loss.
    Submit: New GeneRIF Correction See all GeneRIFs (20)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat upregulates the expression of hypoxia inducible lipid droplet-associated protein (HILPDA) in human primary T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ21076, MGC138388

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables signaling receptor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in autocrine signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in autocrine signaling IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cellular response to hypoxia IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in positive regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of cytokine production IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of lipid storage IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in lipid droplet IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lipid droplet IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in secretory granule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    hypoxia-inducible lipid droplet-associated protein
    Names
    hypoxia inducible gene 2
    hypoxia-inducible gene 2 protein
    hypoxia-inducible protein 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001098786.2 → NP_001092256.1  hypoxia-inducible lipid droplet-associated protein

      See identical proteins and their annotated locations for NP_001092256.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AF144755, AL691669, BC008573, CX784347
      Consensus CDS
      CCDS5802.1
      UniProtKB/Swiss-Prot
      A4D0Z5, Q52LY5, Q53HJ7, Q9Y5L2
      Related
      ENSP00000388871.2, ENST00000435296.2
      Conserved Domains (1) summary
      pfam15220
      Location:1 → 63
      HILPDA; Hypoxia-inducible lipid droplet-associated

    2. NM_013332.4 → NP_037464.1  hypoxia-inducible lipid droplet-associated protein

      See identical proteins and their annotated locations for NP_037464.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AF144755, BC001863, BC008573, CD686848
      Consensus CDS
      CCDS5802.1
      UniProtKB/Swiss-Prot
      A4D0Z5, Q52LY5, Q53HJ7, Q9Y5L2
      Related
      ENSP00000257696.4, ENST00000257696.5
      Conserved Domains (1) summary
      pfam15220
      Location:1 → 63
      HILPDA; Hypoxia-inducible lipid droplet-associated

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      128455878..128458418
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      129767662..129770201
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y5L2.1 GenPept UniProtKB/Swiss-Prot:Q9Y5L2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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