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    PAQR4 progestin and adipoQ receptor family member 4 [ Homo sapiens (human) ]

    Gene ID: 124222, updated on 27-Nov-2024

    Summary

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    Official Symbol
    PAQR4provided by HGNC
    Official Full Name
    progestin and adipoQ receptor family member 4provided by HGNC
    Primary source
    HGNC:HGNC:26386
    See related
    Ensembl:ENSG00000162073 MIM:614578; AllianceGenome:HGNC:26386
    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
    Summary
    Enables molecular adaptor activity. Involved in protein stabilization and regulation of ceramide biosynthetic process. Located in Golgi membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in brain (RPKM 16.0), bone marrow (RPKM 6.3) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PAQR4 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (2969348..2973484)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (2996027..3000163)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (3019349..3023485)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene FLYWCH-type zinc finger 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2988192-2988805 Neighboring gene uncharacterized LOC105371055 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3005307-3006228 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3006229-3007148 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10287 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3011513-3012510 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3012511-3013508 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7088 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7089 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3015093-3016052 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3018331-3019320 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7092 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7093 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7094 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7095 Neighboring gene kringle containing transmembrane protein 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3021603-3022419 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3029137-3030013 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3030014-3030889 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3030890-3031766 Neighboring gene protein kinase, membrane associated tyrosine/threonine 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3032811-3033312 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7098 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:3033737-3033923 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3037455-3038406 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3038407-3039356 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3043721-3044222 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3045542-3046514 Neighboring gene glycine rich extracellular protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3048182-3048682 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3048683-3049183 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3051481-3052017 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr16:3053764-3054722 Neighboring gene Sharpr-MPRA regulatory region 8596 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3057599-3058558 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3058559-3059516 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3061783-3062608 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:3064184-3064351 Neighboring gene claudin 9

    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. High PAQR4 mRNA Expression May Play a Key Role in Prognosis of Kidney Renal Papillary Cell Carcinoma. Liu C, et al. Ann Clin Lab Sci, 2023 Sep. PMID 37945022
    2. Overexpressed PAQR4 predicts poor overall survival and construction of a prognostic nomogram based on PAQR family for hepatocellular carcinoma. Qu C, et al. Math Biosci Eng, 2022 Jan 19. PMID 35240821
    3. PAQR4 promotes the development of hepatocellular carcinoma by activating PI3K/AKT pathway. Zhao G, et al. Acta Biochim Biophys Sin (Shanghai), 2021 Dec 8. PMID 34718369
    4. Golgi-Localized PAQR4 Mediates Antiapoptotic Ceramidase Activity in Breast Cancer. Pedersen L, et al. Cancer Res, 2020 Jun 1. PMID 32291319
    5. MicroRNA-370 inhibits the proliferation, invasion and EMT of gastric cancer cells by directly targeting PAQR4. Feng Y, et al. J Pharmacol Sci, 2018 Oct. PMID 30322804

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. High PAQR4 mRNA Expression May Play a Key Role in Prognosis of Kidney Renal Papillary Cell Carcinoma.
      Title: High PAQR4 mRNA Expression May Play a Key Role in Prognosis of Kidney Renal Papillary Cell Carcinoma.
    2. VEZF1, destabilized by STUB1, affects cellular growth and metastasis of hepatocellular carcinoma by transcriptionally regulating PAQR4.
      Title: VEZF1, destabilized by STUB1, affects cellular growth and metastasis of hepatocellular carcinoma by transcriptionally regulating PAQR4.
    3. PAQR4 promotes the development of hepatocellular carcinoma by activating PI3K/AKT pathway.
      Title: PAQR4 promotes the development of hepatocellular carcinoma by activating PI3K/AKT pathway.
    4. Overexpressed PAQR4 predicts poor overall survival and construction of a prognostic nomogram based on PAQR family for hepatocellular carcinoma.
      Title: Overexpressed PAQR4 predicts poor overall survival and construction of a prognostic nomogram based on PAQR family for hepatocellular carcinoma.
    5. PAQR4 promotes chemoresistance in non-small cell lung cancer through inhibiting Nrf2 protein degradation.
      Title: PAQR4 promotes chemoresistance in non-small cell lung cancer through inhibiting Nrf2 protein degradation.
    6. Golgi-Localized PAQR4 Mediates Antiapoptotic Ceramidase Activity in Breast Cancer.
      Title: Golgi-Localized PAQR4 Mediates Antiapoptotic Ceramidase Activity in Breast Cancer.
    7. PAQR4 (Progestin and AdipoQ Receptor 4) expression is closely associated with progression of many cancers and microRNA (miRNA) processing.
      Title: MicroRNA-370 inhibits the proliferation, invasion and EMT of gastric cancer cells by directly targeting PAQR4.
    8. Data indicate that PAQR4 has a tumorigenic effect on human breast cancers, and such effect is associated with a modulatory activity of PAQR4 on protein degradation of CDK4
      Title: PAQR4 has a tumorigenic effect in human breast cancers in association with reduced CDK4 degradation.
    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
    A genome-wide association study of the metabolic syndrome in Indian Asian men.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • FLJ30002

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular adaptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein stabilization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of ceramide biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    progestin and adipoQ receptor family member 4
    Names
    progestin and adipoQ receptor family member IV

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001284511.2 → NP_001271440.1  progestin and adipoQ receptor family member 4 isoform 2

      See identical proteins and their annotated locations for NP_001271440.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC004235, AK054564, AL832527
      Consensus CDS
      CCDS66911.1
      UniProtKB/Swiss-Prot
      Q8N4S7
      Related
      ENSP00000293978.8, ENST00000293978.12
      Conserved Domains (1) summary
      cl03831
      Location:43 → 215
      HlyIII; Haemolysin-III related

    2. NM_001284512.2 → NP_001271441.1  progestin and adipoQ receptor family member 4 isoform 3

      See identical proteins and their annotated locations for NP_001271441.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AC004235, AK054564, AL832527
      Consensus CDS
      CCDS66912.1
      UniProtKB/TrEMBL
      I3L265
      Related
      ENSP00000459418.1, ENST00000572687.1
      Conserved Domains (1) summary
      cl03831
      Location:57 → 180
      HlyIII; Haemolysin-III related

    3. NM_001284513.2 → NP_001271442.1  progestin and adipoQ receptor family member 4 isoform 4

      See identical proteins and their annotated locations for NP_001271442.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (4) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AL832527, BQ935501
      Consensus CDS
      CCDS73814.1
      UniProtKB/TrEMBL
      B4DI04, I3L1A2
      Related
      ENSP00000460326.1, ENST00000576565.1
      Conserved Domains (1) summary
      cl03831
      Location:29 → 187
      HlyIII; Haemolysin-III related

    4. NM_001324118.2 → NP_001311047.1  progestin and adipoQ receptor family member 4 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC004235
      Conserved Domains (1) summary
      cl03831
      Location:43 → 162
      HlyIII; Haemolysin-III related

    5. NM_152341.5 → NP_689554.2  progestin and adipoQ receptor family member 4 isoform 1

      See identical proteins and their annotated locations for NP_689554.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC004235, AL832527, BC033703
      Consensus CDS
      CCDS10485.1
      UniProtKB/Swiss-Prot
      A8K5Q8, D3DUA2, D3DUA3, Q8N4S7, Q8NAS6, Q96NW1
      Related
      ENSP00000321804.8, ENST00000318782.9
      Conserved Domains (1) summary
      cl03831
      Location:43 → 254
      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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      2969348..2973484
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047433608.1 → XP_047289564.1  progestin and adipoQ receptor family member 4 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      2996027..3000163
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054379586.1 → XP_054235561.1  progestin and adipoQ receptor family member 4 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N4S7.3 GenPept UniProtKB/Swiss-Prot:Q8N4S7

    Gene LinkOut

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

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