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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 nameGene Name - the full gene name approved by the HGNC.
Progesterone immunomodulatory binding factor 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
PIBF1
SynonymsGene synonyms aliases
C13orf24, CEP90, JBTS33, PIBF
ChromosomeChromosome number
13
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q21.33-q22.1
SummarySummary 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,
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
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 IDsOther 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
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
Sequence 
MSRKISKESKKVNISSSLESEDISLETTVPTDDISSSEEREGKVRITRQLIERKELLHNI
QLLKIELSQKTMMIDNLKVDYLTKIEELEEKLNDALHQKQLLTLRLDNQLAFQQKDASKY
QELMKQEMETILLRQKQLEETNLQLREKAGDVRRNLRDFELTEEQYIKLKAFPEDQLSIP
EYVSVRFYELVNPLRKEICELQVKKNILAEELSTNKNQLKQLTETYEEDRKNYSEVQIRC
QRLALELADTKQLIQQGDYRQENYDKVKSERDALEQEVIELRRKHEILEASHMIQTKERS
ELSKEVVTLEQTVTLLQKDKEYLNRQNMELSVRCAHEEDRLERLQAQLEESKKAREEMYE
KYVASRDHYKTEYENKLHDELEQIRLKTNQEIDQLRNASREMYERENRNLREARDNAVAE
KERAVMAEKDALEKHDQLLDRYRELQLSTESKVTEFLHQSKLKSFESERVQLLQEETARN
LTQCQLECEKYQKKLEVLTKEFYSLQASSEKRITELQAQNSEHQARLDIYEKLEKELDEI
IMQTAEIENEDEAERVLFSYGYGANVPTTAKRRLKQSVHLARRVLQLEKQNSLILKDLEH
RKDQVTQLSQELDRANSLLNQTQQPYRYLIESVRQRDSKIDSLTESIAQLEKDVSNLNKE
KSALLQTKNQMALDLEQLLNHREELAAMKQILVKMHSKHSENSLLLTKTEPKHVTENQKS
KTLNVPKEHEDNIFTPKPTLFTKKEAPEWSKKQKMKT
Sequence length 757
Interactions View interactions
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Causal
Disease name Disease term 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, rs199469707, rs11230683, rs386834044, rs386834149, rs267604575, rs587777079, rs587777653, rs587783013, rs778149316, rs786204135, rs386834043, rs786204189, rs786204788, rs794729195, rs534542684, rs797045223, rs863224523, rs201502401, rs374144275, rs863225135, rs863225139, rs372659908, rs863225136, rs772989270, rs863225147, rs541041911, rs863225137, rs371637724, rs777668842, rs863225143, rs753085250, rs753874898, rs863225138, rs863225199, rs775518991, rs752300607, rs863225202, rs863225200, rs863225198, rs754637179, rs755459875, rs863225151, rs863225222, rs863225221, rs863225220, rs201010803, rs863225214, rs369488112, rs863225207, rs863225204, rs863225210, rs754279998, rs863225208, rs863225209, rs863225206, rs1555600644, rs863225205, rs750436680, rs863225150, rs757863670, rs864309712, rs878855006, rs1114167302, rs768663992, rs760952407, rs1057517498, rs1057517528, rs767384710, rs756789619, rs1057520085, rs1057520162, rs142759730, rs372770167, rs759799287, rs753432312, rs780265931, rs1114167448, rs1114167449, rs779450345, rs1276908141, rs1554350503, rs1554208431, rs780910490, rs767018622, rs565629362, rs905262279, rs1554214237, rs771866500, rs754404879, rs1554972547, rs1560002959, rs1564430716, rs756276537, rs1431917892, rs1565088283, rs1277577195, rs1562753388, rs772289223, rs777215595, rs747322175, rs751823180, rs751477523, rs187245292, rs1574587553, rs762334514, rs747514855, rs1318058212, rs1583179845, rs1589150410, rs1588830568, rs1787150198, rs1355690902, rs1445681647, rs1786487832, rs1163874095, rs748438350, rs1336317768, rs780069818, rs771226563, rs1784887448, rs781198326 26167768
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074 26167768
Hirschsprung disease Hirschsprung Disease rs104893891, rs76262710, rs75075748, rs75996173, rs79014735, rs77316810, rs75076352, rs76087194, rs76534745, rs76764689, rs76449634, rs78098482, rs79661516, rs104894389, rs769735757, rs267606780, rs1568823467, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323, rs1057519052, rs1588873476, rs1588866040, rs1838178869
Hydrocephalus Hydrocephalus rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Unknown
Disease name Disease term dbSNP ID References
Congenital cerebral hernia Congenital cerebral hernia
Congenital coloboma of iris Congenital coloboma of iris
Oculomotor apraxia Oculomotor apraxia
Oculovestibuloauditory syndrome Oculovestibuloauditory syndrome

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