PIBF1 (progesterone immunomodulatory binding factor 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 10464
Gene name Progesterone immunomodulatory binding factor 1
Gene symbol PIBF1
Synonyms (NCBI Gene)
C13orf24CEP90JBTS33PIBF
Chromosome 13
Chromosome location 13q21.33-q22.1
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,
SNPs SNP information provided by dbSNP.
8
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (8)
SNP ID Visualize variation Clinical significance Consequence
rs17089782 G>A Pathogenic, likely-pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs144610914 A>G Pathogenic 3 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant
rs147863910 A>C,T Likely-pathogenic 5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant
rs539010725 C>A,G,T Pathogenic Non coding transcript variant, intron variant, stop gained, missense variant, coding sequence variant
rs863225214 C>- Likely-pathogenic Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
3
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (3)
miRTarBase ID miRNA Experiments Reference
MIRT2295686 hsa-miR-320e CLIP-seq
MIRT2295687 hsa-miR-4680-3p CLIP-seq
MIRT2295688 hsa-miR-587 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (28)
GO ID Ontology Definition Evidence Reference
GO:0002376 Process Immune system process IEA
GO:0005136 Function Interleukin-4 receptor binding IDA 16393965
GO:0005515 Function Protein binding IPI 17500595, 26297806, 26638075, 35709258
GO:0005576 Component Extracellular region IEA
GO:0005615 Component Extracellular space IDA 14634107
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
607532 23352 ENSG00000083535
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WXW3
Protein name Progesterone-induced-blocking factor 1 (PIBF) (Centrosomal protein of 90 kDa) (CEP90)
Protein function Plays a role in ciliogenesis. ; [Isoform 1]: Pericentriolar protein required to maintain mitotic spindle pole integrity (PubMed:21224392). Required for the centrosomal accumulation of PCM1 and the recruitm
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed at highest levels in testis. Moderate expression is detected in spleen, thymus, prostate, ovary, small intestine, and colon (PubMed:11935316). Expressed in the first trimester pregnancy decidua (PubMed:12516630). Localized to
Sequence 
MSRKISKESKKVNISSSLESEDISLETTVPTDDISSSEEREGKVRITRQLIERKELLHNI
QLLKIELSQKTMMIDNLKVDYLTKIEELEEKLNDALHQKQLLTLRLDNQLAFQQKDASKY
QELMKQEMETILLRQKQLEETNLQLREKAGDVRRNLRDFELTEEQYIKLKAFPEDQLSIP
EYVSVRFYELVNPLRKEICELQVKKNILAEELSTNKNQLKQLTETYEEDRKNYSEVQIRC
QRLALELADTKQLIQQGDYRQENYDKVKSERDALEQEVIELRRKHEILEASHMIQTKERS
ELSKEVVTLEQTVTLLQKDKEYLNRQNMELSVRCAHEEDRLERLQAQLEESKKAREEMYE
KYVASRDHYKTEYENKLHDELEQIRLKTNQEIDQLRNASREMYERENRNLREARDNAVAE
KERAVMAEKDALEKHDQLLDRYRELQLSTESKVTEFLHQSKLKSFESERVQLLQEETARN
LTQCQLECEKYQKKLEVLTKEFYSLQASSEKRITELQAQNSEHQARLDIYEKLEKELDEI
IMQTAEIENEDEAERVLFSYGYGANVPTTAKRRLKQSVHLARRVLQLEKQNSLILKDLEH
RKDQVTQLSQELDRANSLLNQTQQPYRYLIESVRQRDSKIDSLTESIAQLEKDVSNLNKE
KSALLQTKNQMALDLEQLLNHREELAAMKQILVKMHSKHSENSLLLTKTEPKHVTENQKS
KTLNVPKEHEDNIFTPKPTLFTKKEAPEWSKKQKMKT
Sequence length 757
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (5)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cephalocele Likely pathogenic; Pathogenic rs144610914, rs911707459 RCV000779664
RCV000779665
Dandy-Walker syndrome Likely pathogenic; Pathogenic rs144610914, rs911707459 RCV001257995
RCV001257996
Joubert syndrome Likely pathogenic rs863225214 RCV000201708
Joubert syndrome 33 Likely pathogenic; Pathogenic rs2138204996, rs2137980593, rs2501854454, rs2041684401, rs987735817, rs144610914, rs539010725, rs911707459, rs1594219498, rs2037306370, rs751280996 RCV001806372
RCV002250906
RCV002810038
RCV003493336
RCV000515457
RCV000779664
RCV000735820
RCV000779665
RCV000995835
RCV001261421
RCV001782615
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Malignant tumor of esophagus Uncertain significance rs116564048 RCV005932262
Show/Hide Text Mining Associations (11)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 37478265
Agenesis of Cerebellar Vermis Associate 29695797, 30520571, 33004012
Astrocytoma Associate 28168193
Emphysema Associate 34404834
Glioblastoma Associate 24474429, 28168193
Hypertension Associate 24165912
Lung Neoplasms Associate 37478265
Microcephaly Associate 26297806
Neoplasms Inhibit 24474429
Pulmonary Disease Chronic Obstructive Associate 34404834