UniProtKB - Q8WXW3 (PIBF1_HUMAN)
Protein
Progesterone-induced-blocking factor 1
Gene
PIBF1
Organism
Homo sapiens (Human)
Status
Functioni
Plays a role in ciliogenesis.1 Publication
Pericentriolar protein required to maintain mitotic spindle pole integrity (PubMed:21224392). Required for the centrosomal accumulation of PCM1 and the recruitment of centriolar satellite proteins such as BBS4. Via association with PCM1 may be involved in primary cilia formation (PubMed:23110211). Required for CEP63 centrosomal localization and its interaction with WDR62. Together with CEP63 promotes centriole duplication. Promotes the centrosomal localization of CDK2 (PubMed:26297806).3 Publications
The secreted form is a mediator of progesterone that by acting on the phospholipase A2 enzyme interferes with arachidonic acid metabolism, induces a Th2 biased immune response, and by controlling decidual naturakl killer cells (NK) activity exerts an anti-abortive effect (PubMed:14634107, PubMed:3863495, PubMed:12516630). Increases the production of Th2-type cytokines by signaling via the JAK/STAT pathway. Activates STAT6 and inhibits STAT4 phosphorylation. Signaling via a not identified receptor seems to implicate IL4R and a GPI-anchored protein (PubMed:16393965, PubMed:25218441).1 Publication5 Publications
Miscellaneous
During normal pregnancy, the production is continuously increasing until the 37th gestational week and is followed by a sharp decrease after the 41st week of gestation. In pathological pregnancies, urinary levels fail to increase. Candidate for the diagnosis of threatened premature pregnancy termination.1 Publication
GO - Molecular functioni
- interleukin-4 receptor binding Source: UniProtKB
GO - Biological processi
- activation of Janus kinase activity Source: UniProtKB
- cilium assembly Source: UniProtKB
- immune system process Source: UniProtKB-KW
- mitotic metaphase plate congression Source: UniProtKB
- mitotic spindle assembly Source: UniProtKB
- negative regulation of interleukin-12 production Source: UniProtKB
- negative regulation of natural killer cell activation Source: UniProtKB
- negative regulation of prostaglandin biosynthetic process Source: UniProtKB
- negative regulation of tyrosine phosphorylation of STAT protein Source: UniProtKB
- non-motile cilium assembly Source: UniProtKB
- positive regulation of interleukin-10 production Source: UniProtKB
- positive regulation of tyrosine phosphorylation of STAT protein Source: UniProtKB
- protein localization to centrosome Source: UniProtKB
Keywordsi
Biological process | Immunity |
Enzyme and pathway databases
PathwayCommonsi | Q8WXW3 |
Names & Taxonomyi
Protein namesi | Recommended name: Progesterone-induced-blocking factor 1Short name: PIBF Alternative name(s): Centrosomal protein of 90 kDa Short name: CEP901 Publication |
Gene namesi | Name:PIBF1 Synonyms:C13orf24, PIBF |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000083535.15 |
HGNCi | HGNC:23352, PIBF1 |
MIMi | 607532, gene |
neXtProti | NX_Q8WXW3 |
Subcellular locationi
Extracellular region or secreted
- Secreted 1 Publication
Cytoskeleton
- centrosome 1 Publication
Other locations
- Cytoplasm 1 Publication
Note: In progesterone-treated astrocytoma cells a 57 kDa protein and isoform 1 (90 kDa) have been described, both being located in the intracellular medium and secreted. Respective predominant forms are isoform 1 in the intracellular and the 57 kDa protein in the extracellular medium (PubMed:25218441).1 Publication
Extracellular region or secreted
- Secreted 1 Publication
Nucleus
- Nucleus 2 Publications
Cytoskeleton
- centrosome 1 Publication
- centriolar satellite 2 Publications
Note: Localizes to centriolar satellites throughout the cell cycle.1 Publication
Cytoskeleton
- centriolar satellite Source: UniProtKB
- centrosome Source: UniProtKB
Extracellular region or secreted
- extracellular space Source: UniProtKB
Nucleus
- nucleus Source: UniProtKB
Other locations
- cytoplasm Source: UniProtKB-SubCell
Keywords - Cellular componenti
Cytoplasm, Cytoskeleton, Nucleus, SecretedPathology & Biotechi
Involvement in diseasei
May be associated with microcephaly.1 Publication
Joubert syndrome 33 (JBTS33)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS33 inheritance is autosomal recessive.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_051280 | 405 | R → Q in JBTS33; loss of function in ciliogenesis. 1 PublicationCorresponds to variant dbSNP:rs17089782EnsemblClinVar. | 1 | |
Natural variantiVAR_080441 | 637 | D → A in JBTS33; loss of function in ciliogenesis. 1 PublicationCorresponds to variant dbSNP:rs987735817EnsemblClinVar. | 1 |
Keywords - Diseasei
Ciliopathy, Disease mutation, Joubert syndromeOrganism-specific databases
DisGeNETi | 10464 |
MalaCardsi | PIBF1 |
MIMi | 617767, phenotype |
OpenTargetsi | ENSG00000083535 |
Orphaneti | 475, Joubert syndrome |
PharmGKBi | PA162399421 |
Miscellaneous databases
Pharosi | Q8WXW3, Tbio |
Polymorphism and mutation databases
BioMutai | PIBF1 |
DMDMi | 73920251 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000058426 | 1 – 757 | Progesterone-induced-blocking factor 1Add BLAST | 757 |
Proteomic databases
EPDi | Q8WXW3 |
jPOSTi | Q8WXW3 |
MassIVEi | Q8WXW3 |
MaxQBi | Q8WXW3 |
PaxDbi | Q8WXW3 |
PeptideAtlasi | Q8WXW3 |
PRIDEi | Q8WXW3 |
ProteomicsDBi | 75105 [Q8WXW3-1] 75106 [Q8WXW3-2] 75107 [Q8WXW3-3] |
PTM databases
iPTMneti | Q8WXW3 |
PhosphoSitePlusi | Q8WXW3 |
Expressioni
Tissue specificityi
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 extravillous cytotrophoblast (at protein level). Also found in syncytiotrophoblast and part of the villous cytotrophoblast. Isoform 1 is expressed in first trimester and term villous trophoblast; trophoblast cells can additionally express other isoforms (PubMed:18817979). Overexpressed in solid tumors from stomach and uterus and in cells from ovary, cervical, breast, lymphoma and leukemia cancer (PubMed:25218441).1 Publication3 Publications
Inductioni
By progesterone.1 Publication
Gene expression databases
Bgeei | ENSG00000083535, Expressed in kidney and 223 other tissues |
ExpressionAtlasi | Q8WXW3, baseline and differential |
Genevisiblei | Q8WXW3, HS |
Organism-specific databases
HPAi | ENSG00000083535, Low tissue specificity |
Interactioni
Subunit structurei
Binary interactionsi
Hide detailsQ8WXW3
With | #Exp. | IntAct |
---|---|---|
CEP63 [Q96MT8] | 6 | EBI-2558770,EBI-741977 |
HTT [P42858] | 3 | EBI-2558770,EBI-466029 |
PCM1 [Q15154] | 7 | EBI-2558770,EBI-741421 |
GO - Molecular functioni
- interleukin-4 receptor binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 115727, 178 interactors |
DIPi | DIP-56669N |
IntActi | Q8WXW3, 58 interactors |
MINTi | Q8WXW3 |
STRINGi | 9606.ENSP00000317144 |
Miscellaneous databases
RNActi | Q8WXW3, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 419 | Mediates modulation of Th2 dominant cytokine production1 PublicationAdd BLAST | 419 | |
Regioni | 1 – 184 | Sufficient for NK inhibitory function1 PublicationAdd BLAST | 184 | |
Regioni | 271 – 363 | Required for interaction with PCM11 PublicationAdd BLAST | 93 |
Phylogenomic databases
eggNOGi | ENOG502QRKC, Eukaryota |
GeneTreei | ENSGT00390000015293 |
HOGENOMi | CLU_1277225_0_0_1 |
InParanoidi | Q8WXW3 |
OMAi | DYRRENY |
OrthoDBi | 421171at2759 |
PhylomeDBi | Q8WXW3 |
TreeFami | TF329068 |
Family and domain databases
InterProi | View protein in InterPro IPR026205, PIBF1 |
PANTHERi | PTHR18950, PTHR18950, 1 hit |
s (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketNote: Additional isoforms seem to exist.
This entry has 4 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: Q8WXW3-1) [UniParc]FASTAAdd to basket
Also known as: 90 kDa form
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MSRKISKESK KVNISSSLES EDISLETTVP TDDISSSEER EGKVRITRQL
60 70 80 90 100
IERKELLHNI QLLKIELSQK TMMIDNLKVD YLTKIEELEE KLNDALHQKQ
110 120 130 140 150
LLTLRLDNQL AFQQKDASKY QELMKQEMET ILLRQKQLEE TNLQLREKAG
160 170 180 190 200
DVRRNLRDFE LTEEQYIKLK AFPEDQLSIP EYVSVRFYEL VNPLRKEICE
210 220 230 240 250
LQVKKNILAE ELSTNKNQLK QLTETYEEDR KNYSEVQIRC QRLALELADT
260 270 280 290 300
KQLIQQGDYR QENYDKVKSE RDALEQEVIE LRRKHEILEA SHMIQTKERS
310 320 330 340 350
ELSKEVVTLE QTVTLLQKDK EYLNRQNMEL SVRCAHEEDR LERLQAQLEE
360 370 380 390 400
SKKAREEMYE KYVASRDHYK TEYENKLHDE LEQIRLKTNQ EIDQLRNASR
410 420 430 440 450
EMYERENRNL REARDNAVAE KERAVMAEKD ALEKHDQLLD RYRELQLSTE
460 470 480 490 500
SKVTEFLHQS KLKSFESERV QLLQEETARN LTQCQLECEK YQKKLEVLTK
510 520 530 540 550
EFYSLQASSE KRITELQAQN SEHQARLDIY EKLEKELDEI IMQTAEIENE
560 570 580 590 600
DEAERVLFSY GYGANVPTTA KRRLKQSVHL ARRVLQLEKQ NSLILKDLEH
610 620 630 640 650
RKDQVTQLSQ ELDRANSLLN QTQQPYRYLI ESVRQRDSKI DSLTESIAQL
660 670 680 690 700
EKDVSNLNKE KSALLQTKNQ MALDLEQLLN HREELAAMKQ ILVKMHSKHS
710 720 730 740 750
ENSLLLTKTE PKHVTENQKS KTLNVPKEHE DNIFTPKPTL FTKKEAPEWS
KKQKMKT
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A087WUI6 | A0A087WUI6_HUMAN | Progesterone-induced-blocking facto... | PIBF1 | 698 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 155 | N → S in CAA70844 (Ref. 3) Curated | 1 | |
Sequence conflicti | 333 | R → C in CAA70844 (Ref. 3) Curated | 1 | |
Sequence conflicti | 597 – 614 | DLEHR…QELDR → RSGTSKGPSNTAFTRSLTE in AAQ67659 (Ref. 3) CuratedAdd BLAST | 18 | |
Sequence conflicti | 610 | Q → P in AAL37481 (PubMed:11935316).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_073952 | 89 | E → Q Probable disease-associated variant found in patients with microcephaly and intellectual disability; disrupts interaction with CEP63; no effect on interaction with PCM1. 1 PublicationCorresponds to variant dbSNP:rs865883692Ensembl. | 1 | |
Natural variantiVAR_051279 | 167 | I → V. Corresponds to variant dbSNP:rs1372000Ensembl. | 1 | |
Natural variantiVAR_051280 | 405 | R → Q in JBTS33; loss of function in ciliogenesis. 1 PublicationCorresponds to variant dbSNP:rs17089782EnsemblClinVar. | 1 | |
Natural variantiVAR_051281 | 630 | I → V. Corresponds to variant dbSNP:rs11544631Ensembl. | 1 | |
Natural variantiVAR_080441 | 637 | D → A in JBTS33; loss of function in ciliogenesis. 1 PublicationCorresponds to variant dbSNP:rs987735817EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_015302 | 1 – 541 | Missing in isoform 2. 1 PublicationAdd BLAST | 541 | |
Alternative sequenceiVSP_015303 | 101 – 103 | LLT → QTF in isoform 3. 1 Publication | 3 | |
Alternative sequenceiVSP_015304 | 104 – 757 | Missing in isoform 3. 1 PublicationAdd BLAST | 654 | |
Alternative sequenceiVSP_057956 | 225 – 683 | Missing in isoform 4. 1 PublicationAdd BLAST | 459 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF330046 mRNA Translation: AAL37481.1 AY375528 mRNA Translation: AAQ67659.1 AY370776 mRNA Translation: AAQ73282.1 Y09631 Genomic DNA Translation: CAA70844.1 AL354720 Genomic DNA No translation available. AL391384 Genomic DNA No translation available. BC051911 mRNA Translation: AAH51911.1 |
CCDSi | CCDS31991.1 [Q8WXW3-1] |
RefSeqi | NP_006337.2, NM_006346.2 [Q8WXW3-1] |
Genome annotation databases
Ensembli | ENST00000326291; ENSP00000317144; ENSG00000083535 [Q8WXW3-1] ENST00000615625; ENSP00000483286; ENSG00000083535 [Q8WXW3-2] |
GeneIDi | 10464 |
KEGGi | hsa:10464 |
UCSCi | uc001vjc.4, human [Q8WXW3-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF330046 mRNA Translation: AAL37481.1 AY375528 mRNA Translation: AAQ67659.1 AY370776 mRNA Translation: AAQ73282.1 Y09631 Genomic DNA Translation: CAA70844.1 AL354720 Genomic DNA No translation available. AL391384 Genomic DNA No translation available. BC051911 mRNA Translation: AAH51911.1 |
CCDSi | CCDS31991.1 [Q8WXW3-1] |
RefSeqi | NP_006337.2, NM_006346.2 [Q8WXW3-1] |
3D structure databases
SMRi | Q8WXW3 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 115727, 178 interactors |
DIPi | DIP-56669N |
IntActi | Q8WXW3, 58 interactors |
MINTi | Q8WXW3 |
STRINGi | 9606.ENSP00000317144 |
PTM databases
iPTMneti | Q8WXW3 |
PhosphoSitePlusi | Q8WXW3 |
Polymorphism and mutation databases
BioMutai | PIBF1 |
DMDMi | 73920251 |
Proteomic databases
EPDi | Q8WXW3 |
jPOSTi | Q8WXW3 |
MassIVEi | Q8WXW3 |
MaxQBi | Q8WXW3 |
PaxDbi | Q8WXW3 |
PeptideAtlasi | Q8WXW3 |
PRIDEi | Q8WXW3 |
ProteomicsDBi | 75105 [Q8WXW3-1] 75106 [Q8WXW3-2] 75107 [Q8WXW3-3] |
Protocols and materials databases
Antibodypediai | 24415, 292 antibodies |
Genome annotation databases
Ensembli | ENST00000326291; ENSP00000317144; ENSG00000083535 [Q8WXW3-1] ENST00000615625; ENSP00000483286; ENSG00000083535 [Q8WXW3-2] |
GeneIDi | 10464 |
KEGGi | hsa:10464 |
UCSCi | uc001vjc.4, human [Q8WXW3-1] |
Organism-specific databases
CTDi | 10464 |
DisGeNETi | 10464 |
EuPathDBi | HostDB:ENSG00000083535.15 |
GeneCardsi | PIBF1 |
HGNCi | HGNC:23352, PIBF1 |
HPAi | ENSG00000083535, Low tissue specificity |
MalaCardsi | PIBF1 |
MIMi | 607532, gene 617767, phenotype |
neXtProti | NX_Q8WXW3 |
OpenTargetsi | ENSG00000083535 |
Orphaneti | 475, Joubert syndrome |
PharmGKBi | PA162399421 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QRKC, Eukaryota |
GeneTreei | ENSGT00390000015293 |
HOGENOMi | CLU_1277225_0_0_1 |
InParanoidi | Q8WXW3 |
OMAi | DYRRENY |
OrthoDBi | 421171at2759 |
PhylomeDBi | Q8WXW3 |
TreeFami | TF329068 |
Enzyme and pathway databases
PathwayCommonsi | Q8WXW3 |
Miscellaneous databases
BioGRID-ORCSi | 10464, 4 hits in 843 CRISPR screens |
ChiTaRSi | PIBF1, human |
GeneWikii | C13orf24 |
GenomeRNAii | 10464 |
Pharosi | Q8WXW3, Tbio |
PROi | PR:Q8WXW3 |
RNActi | Q8WXW3, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000083535, Expressed in kidney and 223 other tissues |
ExpressionAtlasi | Q8WXW3, baseline and differential |
Genevisiblei | Q8WXW3, HS |
Family and domain databases
InterProi | View protein in InterPro IPR026205, PIBF1 |
PANTHERi | PTHR18950, PTHR18950, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | PIBF1_HUMAN | |
Accessioni | Q8WXW3Primary (citable) accession number: Q8WXW3 Secondary accession number(s): O95664 Q96SF4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 22, 2003 |
Last sequence update: | August 30, 2005 | |
Last modified: | December 2, 2020 | |
This is version 149 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - Human chromosome 13
Human chromosome 13: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations