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

Gene ID: 10464, updated on 6-Nov-2022

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
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Genomic context

See PIBF1 in Genome Data Viewer
Location:
13q21.33-q22.1
Exon count:
22
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (72782133..73016461)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (72003616..72238006)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (73356271..73590599)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene mitotic spindle organizing protein 1 Neighboring gene BORA aurora kinase A activator Neighboring gene DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease Neighboring gene RNA, U6 small nuclear 79, pseudogene Neighboring gene proteasome 26S subunit, non-ATPase, 10 pseudogene 3 Neighboring gene KLF transcription factor 5

Genomic regions, transcripts, and products

Expression

  • 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

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

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 
Component Evidence Code Pubs
is_active_in centriolar satellite IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
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)

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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_001349655.2NP_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
    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
    Q8WXW3, Q96SF4
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

    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

    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

    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

    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)