PIBF1 (progesterone immunomodulatory binding factor 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10464
Gene name Gene Name - the full gene name approved by the HGNC.
Progesterone immunomodulatory binding factor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PIBF1
Synonyms (NCBI Gene) Gene synonyms aliases
C13orf24, CEP90, JBTS33, PIBF
Disease Acronyms (UniProt) Disease acronyms from UniProt database
JBTS33
Chromosome Chromosome number
13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q21.33-q22.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(20)
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
GO:0005615 Component Extracellular space IDA 14634107
GO:0005634 Component Nucleus IDA 14634107
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
607532 23352 ENSG00000083535
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (10)
Causal
Disease term Disease name dbSNP ID References
Cerebellar vermis agenesis Familial aplasia of the vermis rs201108965, rs13297509, rs121918129, rs121918130, rs121918197, rs121918198, rs121918199, rs121918203, rs121918204, rs145665129, rs121434348, rs121434349, rs267606641, rs201391050, rs387907003
View all (121 more)		 26167768
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)		 26167768
Hirschsprung disease Hirschsprung Disease rs76262710, rs75996173, rs77316810, rs75076352, rs76534745, rs76764689, rs76449634, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323
View all (4 more)
Hydrocephalus Hydrocephalus rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Ptosis Blepharoptosis, Ptosis ClinVar
Gout Gout GWAS
Show/Hide Text Mining Associations (11)
Associations from Text Mining
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