PAQR9 progestin and adipoQ receptor family member 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PAQR9provided by HGNC
Official Full Name: progestin and adipoQ receptor family member 9provided by HGNC
Primary source: HGNC:HGNC:30131
See related: Ensembl:ENSG00000188582 MIM:614580; AllianceGenome:HGNC:30131
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: BLNC1
Summary: Predicted to enable signaling receptor activity. Predicted to be located in plasma membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: mouse all
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Genomic context

Location:: 3q23

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (142949164..142964008, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (145696407..145711250, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (142668006..142682850, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PAQR9 regulates hepatic ketogenesis and fatty acid oxidation during fasting by modulating protein stability of PPARalpha.
Title: PAQR9 regulates hepatic ketogenesis and fatty acid oxidation during fasting by modulating protein stability of PPARα.
the polyubiquitination of MLPs is enhanced by PAQR9 PAQR9 binds to the DUF3538 domain within the proline-rich stretch of BAG6. PAQR9 reduces the binding of MLPs to BAG6 in a DUF3538 domain-dependent manner. Taken together, our results indicate that PAQR9 plays a role in the regulation of protein quality control of MLPs via affecting the interaction of BAG6 with membrane proteins.
Title: PAQR9 Modulates BAG6-mediated protein quality control of mislocalized membrane proteins.
The results suggest that PAQR6 and PAQR9 (mPRdelta and mPRepsilon) function as mPRs coupled to G proteins and are potential intermediaries of nonclassical antiapoptotic actions of neurosteroids in the central nervous system.
Title: Characterization, neurosteroid binding and brain distribution of human membrane progesterone receptors δ and {epsilon} (mPRδ and mPR{epsilon}) and mPRδ involvement in neurosteroid inhibition of apoptosis.
PAQR9 is a previously uncharacterized PAQR which is also capable of responding to progesterone.
Title: Heterologous expression of human mPRalpha, mPRbeta and mPRgamma in yeast confirms their ability to function as membrane progesterone receptors.

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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
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. 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-36471 (e-PCR)
- UniSTS:1541

RH70276 (e-PCR)
- UniSTS:23351

NoName (e-PCR)
- UniSTS:483032

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables signaling receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables steroid binding	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: membrane progestin receptor epsilon

Names: brown fat long noncoding RNA; mPR epsilon; membrane progesterone P4 receptor epsilon; membrane progesterone receptor epsilon; progesterone and adipoQ receptor family member 9; progestin and adipoQ receptor family member IX

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)

NM_001375300.1 → NP_001362229.1 membrane progestin receptor epsilon isoform 2

Status: VALIDATED

Source sequence(s)

AC021074

Conserved Domains (1) summary

cl03831
Location:81 → 320

HlyIII; Haemolysin-III related
NM_001375301.1 → NP_001362230.1 membrane progestin receptor epsilon isoform 3

Status: VALIDATED

Source sequence(s)

AC021074

Conserved Domains (1) summary

cl03831
Location:81 → 320

HlyIII; Haemolysin-III related
NM_198504.4 → NP_940906.1 membrane progestin receptor epsilon isoform 1

See identical proteins and their annotated locations for NP_940906.1

Status: VALIDATED

Source sequence(s)

AC021074

Consensus CDS

CCDS3128.1

UniProtKB/Swiss-Prot

Q147T6, Q6ZVX9

Related

ENSP00000341564.4, ENST00000340634.6

Conserved Domains (1) summary

cl03831
Location:81 → 320

HlyIII; Haemolysin-III related