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    PIBF1 progesterone immunomodulatory binding factor 1 [ Homo sapiens (human) ]

    Gene ID: 10464, updated on 27-Nov-2024

    Summary

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    Official Symbol
    PIBF1provided by HGNC
    Official Full Name
    progesterone immunomodulatory binding factor 1provided by HGNC
    Primary source
    HGNC:HGNC:23352
    See related
    Ensembl:ENSG00000083535 MIM:607532; AllianceGenome:HGNC:23352
    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
    PIBF; CEP90; JBTS33; C13orf24
    Summary
    This gene encodes a protein that is induced by the steroid hormone progesterone and plays a role in the maintenance of pregnancy. The encoded protein regulates multiple facets of the immune system to promote normal pregnancy including cytokine synthesis, natural killer (NK) cell activity, and arachidonic acid metabolism. Low serum levels of this protein have been associated with spontaneous pre-term labor in humans. This protein may promote the proliferation, migration and invasion of glioma. [provided by RefSeq, Mar 2017]
    Expression
    Ubiquitous expression in thyroid (RPKM 9.0), testis (RPKM 8.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PIBF1 in Genome Data Viewer
    Location:
    13q21.33-q22.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (72782133..73016461)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (72003616..72238006)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (73356271..73590599)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr13:73301228-73301409 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7813 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5395 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7814 Neighboring gene mitotic spindle organizing protein 1 Neighboring gene BORA aurora kinase A activator Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:73355230-73356144 Neighboring gene DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:73426017-73426548 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:73426549-73427078 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7816 Neighboring gene RNA, U6 small nuclear 79, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr13:73509249-73509443 Neighboring gene NANOG hESC enhancer GRCh37_chr13:73534622-73535123 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:73610339-73611015 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr13:73612066-73612896 Neighboring gene proteasome 26S subunit, non-ATPase, 10 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5397 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5398 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:73648866-73649672 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:73649673-73650478 Neighboring gene KLF transcription factor 5

    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. PIBF: the double edged sword. Pregnancy and tumor. Szekeres-Bartho J, et al. Am J Reprod Immunol, 2010 Aug 1. PMID 20367622
    2. High Immune Expression of Progesterone-Induced Blocking Factor in Epithelial Ovarian Cancer. Madendag Y, et al. Technol Cancer Res Treat, 2018 Jan 1. PMID 29962287, Free PMC Article
    3. Proliferative and Invasive Effects of Progesterone-Induced Blocking Factor in Human Glioblastoma Cells. Gutiérrez-Rodríguez A, et al. Biomed Res Int, 2017. PMID 28168193, Free PMC Article
    4. Lower Urinary and Serum Progesterone-Induced Blocking Factor in Women with Preterm Birth. Hudić I, et al. J Reprod Immunol, 2016 Sep. PMID 27479613
    5. Evidence that exposure to progesterone alone is a sufficient stimulus to cause a precipitous rise in the immunomodulatory protein the progesterone induced blocking factor (PIBF). Cohen RA, et al. J Assist Reprod Genet, 2016 Feb. PMID 26634256, Free PMC Article

    See all (92) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PIBF1 regulates multiple gene expression via impeding long-range chromatin interaction to drive the malignant transformation of HPV16 integration epithelial cells.
      Title: PIBF1 regulates multiple gene expression via impeding long-range chromatin interaction to drive the malignant transformation of HPV16 integration epithelial cells.
    2. PIBF1 regulates trophoblast syncytialization and promotes cardiovascular development.
      Title: PIBF1 regulates trophoblast syncytialization and promotes cardiovascular development.
    3. Progesterone-induced blocking factor (PIBF) influences the expression of membrane progesterone receptors (mPRs) on peripheral CD4(+) T lymphocyte cells in normal fertile females.
      Title: Progesterone-induced blocking factor (PIBF) influences the expression of membrane progesterone receptors (mPRs) on peripheral CD4(+) T lymphocyte cells in normal fertile females.
    4. Biologia futura: embryo-maternal communication via progesterone-induced blocking factor (PIBF) positive embryo-derived extracellular vesicles. Their role in maternal immunomodulation.
      Title: Biologia futura: embryo-maternal communication via progesterone-induced blocking factor (PIBF) positive embryo-derived extracellular vesicles. Their role in maternal immunomodulation.
    5. A ciliopathy complex builds distal appendages to initiate ciliogenesis.
      Title: A ciliopathy complex builds distal appendages to initiate ciliogenesis.
    6. PIBF1 suppresses the ATR/CHK1 signaling pathway and promotes proliferation and motility of triple-negative breast cancer cells.
      Title: PIBF1 suppresses the ATR/CHK1 signaling pathway and promotes proliferation and motility of triple-negative breast cancer cells.
    7. Characterisation of serum progesterone and progesterone-induced blocking factor (PIBF) levels across trimesters in healthy pregnant women.
      Title: Characterisation of serum progesterone and progesterone-induced blocking factor (PIBF) levels across trimesters in healthy pregnant women.
    8. In conditioned media of PIBF-deficient JEG-3 cells, primary lung and ovarian cancer cells MMP9 activity was reduced. PIBF silencing resulted in increased E-cadherin expression, suggesting that by down regulating E-cadherin expression, PIBF might interfere with the cell-cell adhesion mechanisms and by increasing MMP activity induced extracellular matrix degradation, facilitates the invasion of tumor cells.
      Title: The effect of the Progesterone-Induced Blocking Factor (PIBF) on E-cadherin expression, cell motility and invasion of primary tumour cell lines.
    9. We found at high levels of expression of PIBF protein in epithelial ovarian cancer patients. These data demonstrate that tumor cells can secrete PIBF to escape the immune system
      Title: High Immune Expression of Progesterone-Induced Blocking Factor in Epithelial Ovarian Cancer.
    10. blood and placental tissue level expression of PIBF is concordant and correlates with both progesterone receptor expression status as well as final pregnancy outcome
      Title: Preterm delivery and associated negative pregnancy outcome - A tale of faulty progesterone receptor signalling pathway and linked derailed immunomodulation: A study from Northeast India.
    Submit: New GeneRIF Correction See all GeneRIFs (33)

    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

    Associated conditions

    Description Tests
    Joubert syndrome 33
    MedGen: C4540389 OMIM: 617767 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.
    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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1008

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables interleukin-4 receptor binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in activation of Janus kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in immune system process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitotic metaphase chromosome alignment IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitotic spindle assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of interleukin-12 production IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of natural killer cell activation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of prostaglandin biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of tyrosine phosphorylation of STAT protein IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in non-motile cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of interleukin-10 production IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of tyrosine phosphorylation of STAT protein IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein localization to centrosome IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in microtubule organizing center IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    progesterone-induced-blocking factor 1
    Names
    centrosomal protein of 90 kDa

    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.

    Genomic

    1. NG_053118.2 RefSeqGene

      Range
      5002..239330
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001349655.2 → NP_001336584.1  progesterone-induced-blocking factor 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL354720, AL391384
      UniProtKB/TrEMBL
      A0A087WUI6
      Conserved Domains (1) summary
      cl25732
      Location:81 → 721
      SMC_N; RecF/RecN/SMC N terminal domain

    2. NM_006346.4 → NP_006337.2  progesterone-induced-blocking factor 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AL354720, AL391384
      Consensus CDS
      CCDS31991.1
      UniProtKB/Swiss-Prot
      O95664, Q6U9V2, Q6UG50, Q86V07, Q8WXW3, Q96SF4
      UniProtKB/TrEMBL
      A0A087WUI6
      Related
      ENSP00000317144.6, ENST00000326291.11
      Conserved Domains (3) summary
      COG0497
      Location:468 → 698
      RecN; DNA repair ATPase RecN [Replication, recombination and repair]
      TIGR02168
      Location:208 → 538
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      TIGR02169
      Location:32 → 355
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

    RNA

    1. NR_146205.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site and lacks an exon compared to variant 1.
      Source sequence(s)
      AL354720, AL391384

    2. NR_146206.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site and lacks two exons compared to variant 1.
      Source sequence(s)
      AL354720, AL391384

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      72782133..73016461
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011534882.4 → XP_011533184.1  progesterone-induced-blocking factor 1 isoform X1

      UniProtKB/TrEMBL
      A0A087WUI6
      Conserved Domains (2) summary
      TIGR02168
      Location:208 → 567
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      TIGR02169
      Location:32 → 355
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

    2. XM_024449314.2 → XP_024305082.1  progesterone-induced-blocking factor 1 isoform X3

      UniProtKB/TrEMBL
      A0A087WUI6
      Conserved Domains (1) summary
      cl25732
      Location:208 → 538
      SMC_N; RecF/RecN/SMC N terminal domain

    3. XM_011534885.4 → XP_011533187.1  progesterone-induced-blocking factor 1 isoform X5

      Conserved Domains (1) summary
      TIGR02168
      Location:85 → 444
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    4. XM_047430045.1 → XP_047286001.1  progesterone-induced-blocking factor 1 isoform X2

    5. XM_047430047.1 → XP_047286003.1  progesterone-induced-blocking factor 1 isoform X6

      Related
      ENSP00000478697.1, ENST00000617689.4

    6. XM_047430046.1 → XP_047286002.1  progesterone-induced-blocking factor 1 isoform X4

    7. XM_047430048.1 → XP_047286004.1  progesterone-induced-blocking factor 1 isoform X8

    8. XM_011534884.4 → XP_011533186.1  progesterone-induced-blocking factor 1 isoform X7

      UniProtKB/TrEMBL
      A0A087WUI6
      Conserved Domains (2) summary
      TIGR02168
      Location:208 → 567
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      TIGR02169
      Location:32 → 355
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

    9. XM_047430049.1 → XP_047286005.1  progesterone-induced-blocking factor 1 isoform X9

    10. XM_017020351.2 → XP_016875840.1  progesterone-induced-blocking factor 1 isoform X10

    11. XM_011534886.4 → XP_011533188.1  progesterone-induced-blocking factor 1 isoform X11

      UniProtKB/TrEMBL
      Q05DN0
      Conserved Domains (1) summary
      COG1196
      Location:36 → 357
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    12. XM_047430050.1 → XP_047286006.1  progesterone-induced-blocking factor 1 isoform X12

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      72003616..72238006
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374017.1 → XP_054229992.1  progesterone-induced-blocking factor 1 isoform X1

    2. XM_054374019.1 → XP_054229994.1  progesterone-induced-blocking factor 1 isoform X3

    3. XM_054374021.1 → XP_054229996.1  progesterone-induced-blocking factor 1 isoform X5

    4. XM_054374018.1 → XP_054229993.1  progesterone-induced-blocking factor 1 isoform X2

    5. XM_054374022.1 → XP_054229997.1  progesterone-induced-blocking factor 1 isoform X6

    6. XM_054374020.1 → XP_054229995.1  progesterone-induced-blocking factor 1 isoform X4

    7. XM_054374024.1 → XP_054229999.1  progesterone-induced-blocking factor 1 isoform X8

    8. XM_054374023.1 → XP_054229998.1  progesterone-induced-blocking factor 1 isoform X7

    9. XM_054374025.1 → XP_054230000.1  progesterone-induced-blocking factor 1 isoform X9

    10. XM_054374026.1 → XP_054230001.1  progesterone-induced-blocking factor 1 isoform X10

    11. XM_054374028.1 → XP_054230003.1  progesterone-induced-blocking factor 1 isoform X12

    12. XM_054374027.1 → XP_054230002.1  progesterone-induced-blocking factor 1 isoform X11

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WXW3.2 GenPept UniProtKB/Swiss-Prot:Q8WXW3

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