THRSP thyroid hormone responsive [Homo sapiens (human)] - Gene

Summary

Official Symbol: THRSPprovided by HGNC
Official Full Name: thyroid hormone responsiveprovided by HGNC
Primary source: HGNC:HGNC:11800
See related: Ensembl:ENSG00000151365 MIM:601926; AllianceGenome:HGNC:11800
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: S14; Lpgp; THRP; LPGP1; SPOT14
Summary: The protein encoded by this gene is similar to the gene product of S14, a rat gene whose expression is limited to liver and adipose tissue and is controlled by nutritional and hormonal factors. This gene has been shown to be expressed in liver and adipocytes, particularly in lipomatous modules. It is also found to be expressed in lipogenic breast cancers, which suggests a role in controlling tumor lipid metabolism. [provided by RefSeq, Jul 2008]
Expression: Biased expression in fat (RPKM 186.6) and liver (RPKM 77.1) See more
Orthologs: mouse all
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Genomic context

Location:: 11q14.1

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (78063861..78068351)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (77997088..78001580)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (77774907..77779397)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Insulin-inducible THRSP maintains mitochondrial function and regulates sphingolipid metabolism in human adipocytes.
Title: Insulin-inducible THRSP maintains mitochondrial function and regulates sphingolipid metabolism in human adipocytes.
THRSP identified as a potential hepatocellular carcinoma marker by integrated bioinformatics analysis and experimental validation.
Title: THRSP identified as a potential hepatocellular carcinoma marker by integrated bioinformatics analysis and experimental validation.
miR-451a might participate in the free fatty acid-induced hepatic steatosis by regulating the expression of the THRSP gene.
Title: MiR-451a attenuates free fatty acids-mediated hepatocyte steatosis by targeting the thyroid hormone responsive spot 14 gene.
The results of the present study indicated that Spot14/S14R were differently expressed in MSC adipogenesis in AIS patients, and they may be important in the abnormal adipogenic differentiation in AIS.
Title: Spot14/Spot14R expression may be involved in MSC adipogenic differentiation in patients with adolescent idiopathic scoliosis.
In human breast cancer cell lines, S14 expression was highest in those representing the luminal subtype compared to those cell lines with basal characteristics.
Title: Modulation of tumor fatty acids, through overexpression or loss of thyroid hormone responsive protein spot 14 is associated with altered growth and metastasis.
N-terminally truncated human Thrsp and its selenomethionyl derivative were collected to 4.0, 3.0 and 3.6 A resolution
Title: Expression, purification and preliminary crystallographic analysis of human thyroid hormone responsive protein.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
human Spot 14 protein might regulate the p53 target gene, p21(WAF1/Cip1), via its direct interaction with the thyroid receptor or other p53 coactivators, such as Zac1.
Title: Human Spot 14 protein is a p53-dependent transcriptional coactivator via the recruitment of thyroid receptor and Zac1.
These findings provide a molecular rationale for the role of hS14 in TR-dependent transcriptional activation of the expression of specific genes.
Title: Human spot 14 protein interacts physically and functionally with the thyroid receptor.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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

EBI GWAS Catalog

Description
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-112422 (e-PCR)
- UniSTS:182535

PMC22712P1 (e-PCR)
- UniSTS:272148

PMC22712P2 (e-PCR)
- UniSTS:272149

RH123542 (e-PCR)
- UniSTS:135963

THRSP (e-PCR)
- UniSTS:504133

D11S2232E (e-PCR)
- UniSTS:43618

RH12275 (e-PCR)
- UniSTS:53886

D11S4683 (e-PCR)
- UniSTS:15858

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables molecular function inhibitor activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in regulation of lipid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of lipid biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of triglyceride biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in response to bacterium	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: thyroid hormone-inducible hepatic protein

Names: SPOT14 homolog; lipogenic protein 1; spot 14 protein; thyroid hormone responsive (SPOT14 homolog, rat)

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.