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

Gene ID: 29923, updated on 10-Mar-2024

Summary

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. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in esophagus (RPKM 37.4), fat (RPKM 20.9) and 20 other tissues See more
Orthologs
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Genomic context

Location:
7q32.1
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (128455878..128458418)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (129767662..129770201)
105.20220307 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 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

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 
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

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_001098786.2NP_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:163
    HILPDA; Hypoxia-inducible lipid droplet-associated
  2. NM_013332.4NP_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:163
    HILPDA; Hypoxia-inducible lipid droplet-associated

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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)