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

    Gene ID: 10464, updated on 28-Oct-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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

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

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_053118.2 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001349655.2NP_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:81721
      SMC_N; RecF/RecN/SMC N terminal domain
    2. NM_006346.4NP_006337.2  progesterone-induced-blocking factor 1 isoform 2

      See identical proteins and their annotated locations for NP_006337.2

      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:468698
      RecN; DNA repair ATPase RecN [Replication, recombination and repair]
      TIGR02168
      Location:208538
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      TIGR02169
      Location:32355
      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_011534882.4XP_011533184.1  progesterone-induced-blocking factor 1 isoform X1

      UniProtKB/TrEMBL
      A0A087WUI6
      Conserved Domains (2) summary
      TIGR02168
      Location:208567
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      TIGR02169
      Location:32355
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
    2. XM_024449314.2XP_024305082.1  progesterone-induced-blocking factor 1 isoform X3

      UniProtKB/TrEMBL
      A0A087WUI6
      Conserved Domains (1) summary
      cl25732
      Location:208538
      SMC_N; RecF/RecN/SMC N terminal domain
    3. XM_011534885.4XP_011533187.1  progesterone-induced-blocking factor 1 isoform X5

      Conserved Domains (1) summary
      TIGR02168
      Location:85444
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    4. XM_047430045.1XP_047286001.1  progesterone-induced-blocking factor 1 isoform X2

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

      Related
      ENSP00000478697.1, ENST00000617689.4
    6. XM_047430046.1XP_047286002.1  progesterone-induced-blocking factor 1 isoform X4

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

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

      UniProtKB/TrEMBL
      A0A087WUI6
      Conserved Domains (2) summary
      TIGR02168
      Location:208567
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      TIGR02169
      Location:32355
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
    9. XM_047430049.1XP_047286005.1  progesterone-induced-blocking factor 1 isoform X9

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

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

      UniProtKB/TrEMBL
      Q05DN0
      Conserved Domains (1) summary
      COG1196
      Location:36357
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    12. XM_047430050.1XP_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_054374017.1XP_054229992.1  progesterone-induced-blocking factor 1 isoform X1

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

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

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

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

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

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

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

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

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

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

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