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

    Gene ID: 344838, updated on 2-Nov-2024

    Summary

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    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. [provided by Alliance of Genome Resources, Nov 2024]
    Orthologs
    mouse all
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    Genomic context

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    See PAQR9 in Genome Data Viewer
    Location:
    3q23
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (142949164..142964008, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (145696407..145711250, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (142668006..142682850, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene procollagen C-endopeptidase enhancer 2 Neighboring gene uncharacterized LOC124909443 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14791 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:142635932-142636110 Neighboring gene Sharpr-MPRA regulatory region 3462 Neighboring gene hepatic lncRNA metabolic regulator 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:142677150-142678349 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:142681545-142681730 Neighboring gene PAQR9 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:142717850-142718850 Neighboring gene uncharacterized LOC100289361 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:142719850-142720849 Neighboring gene U2 snRNP associated SURP domain containing

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Subcellular distribution of glutamyltransferase activities in embryonic cerebral hemispheres. Piddington R. Brain Res, 1977 Jun 17. PMID 18257
    2. Synaptosome transmitter release and ATPase activity [proceedings]. Gilbert JC, et al. Br J Pharmacol, 1977 Jun. PMID 18252, Free PMC Article
    3. 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. Pang Y, et al. Endocrinology, 2013 Jan. PMID 23161870, Free PMC Article
    4. PAQR9 regulates hepatic ketogenesis and fatty acid oxidation during fasting by modulating protein stability of PPARα. Lin Y, et al. Mol Metab, 2021 Nov. PMID 34474167, Free PMC Article
    5. Heterologous expression of human mPRalpha, mPRbeta and mPRgamma in yeast confirms their ability to function as membrane progesterone receptors. Smith JL, et al. Steroids, 2008 Oct. PMID 18603275, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ41938

    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)

    1. 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

    2. 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

    3. 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

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      142949164..142964008 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      145696407..145711250 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZVX9.1 GenPept UniProtKB/Swiss-Prot:Q6ZVX9

    Gene LinkOut

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

    Chemical Information
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