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UniProtKB - Q8WXW3 (PIBF1_HUMAN)

Protein

Progesterone-induced-blocking factor 1

Gene

PIBF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Plays a role in ciliogenesis.1 Publication
Isoform 1: 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
Isoform 4: 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
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Biological processImmunity

Names & Taxonomyi

Protein namesi
Recommended name:
Progesterone-induced-blocking factor 1
Short name:
PIBF
Alternative name(s):
Centrosomal protein of 90 kDa
Short name:
CEP901 Publication
Gene namesi
Name:PIBF1
Synonyms:C13orf24, PIBF
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

EuPathDBiHostDB:ENSG00000083535.15
HGNCiHGNC:23352 PIBF1
MIMi607532 gene
neXtProtiNX_Q8WXW3

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Nucleus, Secreted

Pathology & 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.
See also OMIM:617767
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_051280405R → Q in JBTS33; loss of function in ciliogenesis. 1 PublicationCorresponds to variant dbSNP:rs17089782EnsemblClinVar.1
Natural variantiVAR_080441637D → A in JBTS33; loss of function in ciliogenesis. 1 PublicationCorresponds to variant dbSNP:rs987735817EnsemblClinVar.1

Keywords - Diseasei

Ciliopathy, Disease mutation, Joubert syndrome

Organism-specific databases

DisGeNETi10464
MalaCardsiPIBF1
MIMi617767 phenotype
OpenTargetsiENSG00000083535
Orphaneti475 Joubert syndrome
PharmGKBiPA162399421

Polymorphism and mutation databases

BioMutaiPIBF1
DMDMi73920251

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000584261 – 757Progesterone-induced-blocking factor 1Add BLAST757

Proteomic databases

EPDiQ8WXW3
MaxQBiQ8WXW3
PaxDbiQ8WXW3
PeptideAtlasiQ8WXW3
PRIDEiQ8WXW3
ProteomicsDBi75105
75106 [Q8WXW3-2]
75107 [Q8WXW3-3]

PTM databases

iPTMnetiQ8WXW3
PhosphoSitePlusiQ8WXW3

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

BgeeiENSG00000083535 Expressed in 212 organ(s), highest expression level in kidney
CleanExiHS_PIBF1
ExpressionAtlasiQ8WXW3 baseline and differential
GenevisibleiQ8WXW3 HS

Organism-specific databases

HPAiHPA052269
HPA066120

Interactioni

Subunit structurei

Isoform 1 interacts with PCM1, BBS4 and CEP63 (PubMed:21224392, PubMed:23110211, PubMed:26297806). Interacts with IL4R (PubMed:25218441).4 Publications

Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi115727, 66 interactors
DIPiDIP-56669N
IntActiQ8WXW3, 50 interactors
STRINGi9606.ENSP00000317144

Structurei

3D structure databases

ProteinModelPortaliQ8WXW3
SMRiQ8WXW3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 419Mediates modulation of Th2 dominant cytokine production1 PublicationAdd BLAST419
Regioni1 – 184Sufficient for NK inhibitory function1 PublicationAdd BLAST184
Regioni271 – 363Required for interaction with PCM11 PublicationAdd BLAST93

Phylogenomic databases

eggNOGiENOG410IFCG Eukaryota
ENOG410YQJ9 LUCA
GeneTreeiENSGT00390000015293
HOGENOMiHOG000006812
HOVERGENiHBG053599
InParanoidiQ8WXW3
KOiK16538
OMAiQTKNQMA
OrthoDBiEOG091G02OD
PhylomeDBiQ8WXW3
TreeFamiTF329068

Family and domain databases

InterProiView protein in InterPro
IPR026205 PIBF1
PANTHERiPTHR18950 PTHR18950, 1 hit

Sequences (4+)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket
Note: 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 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:757
Mass (Da):89,805
Last modified:August 30, 2005 - v2
Checksum:iB469FB3BCC7E80FD
GO
Isoform 2 (identifier: Q8WXW3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-541: Missing.

Note: No experimental confirmation available.
Show »
Length:216
Mass (Da):25,125
Checksum:i83A174B20DF2240F
GO
Isoform 3 (identifier: Q8WXW3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     101-103: LLT → QTF
     104-757: Missing.

Note: No experimental confirmation available.
Show »
Length:103
Mass (Da):12,016
Checksum:iDBD92AF3CD8037CB
GO
Isoform 4 (identifier: Q8WXW3-4) [UniParc]FASTAAdd to basket
Also known as: 34/35 kDa form

The sequence of this isoform differs from the canonical sequence as follows:
     225-683: Missing.

Show »
Length:298
Mass (Da):35,071
Checksum:i87F4C162AF5BEB52
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WUI6A0A087WUI6_HUMAN
Progesterone-induced-blocking facto...
PIBF1
698Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti155N → S in CAA70844 (Ref. 3) Curated1
Sequence conflicti333R → C in CAA70844 (Ref. 3) Curated1
Sequence conflicti597 – 614DLEHR…QELDR → RSGTSKGPSNTAFTRSLTE in AAQ67659 (Ref. 3) CuratedAdd BLAST18
Sequence conflicti610Q → P in AAL37481 (PubMed:11935316).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07395289E → Q Probable disease-associated mutation 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_051279167I → V. Corresponds to variant dbSNP:rs1372000Ensembl.1
Natural variantiVAR_051280405R → Q in JBTS33; loss of function in ciliogenesis. 1 PublicationCorresponds to variant dbSNP:rs17089782EnsemblClinVar.1
Natural variantiVAR_051281630I → V. Corresponds to variant dbSNP:rs11544631Ensembl.1
Natural variantiVAR_080441637D → A in JBTS33; loss of function in ciliogenesis. 1 PublicationCorresponds to variant dbSNP:rs987735817EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0153021 – 541Missing in isoform 2. 1 PublicationAdd BLAST541
Alternative sequenceiVSP_015303101 – 103LLT → QTF in isoform 3. 1 Publication3
Alternative sequenceiVSP_015304104 – 757Missing in isoform 3. 1 PublicationAdd BLAST654
Alternative sequenceiVSP_057956225 – 683Missing in isoform 4. 1 PublicationAdd BLAST459

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
CCDSiCCDS31991.1 [Q8WXW3-1]
RefSeqiNP_006337.2, NM_006346.2 [Q8WXW3-1]
UniGeneiHs.441926

Genome annotation databases

EnsembliENST00000326291; ENSP00000317144; ENSG00000083535 [Q8WXW3-1]
ENST00000615625; ENSP00000483286; ENSG00000083535 [Q8WXW3-2]
GeneIDi10464
KEGGihsa:10464
UCSCiuc001vjc.4 human [Q8WXW3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar 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
CCDSiCCDS31991.1 [Q8WXW3-1]
RefSeqiNP_006337.2, NM_006346.2 [Q8WXW3-1]
UniGeneiHs.441926

3D structure databases

ProteinModelPortaliQ8WXW3
SMRiQ8WXW3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115727, 66 interactors
DIPiDIP-56669N
IntActiQ8WXW3, 50 interactors
STRINGi9606.ENSP00000317144

PTM databases

iPTMnetiQ8WXW3
PhosphoSitePlusiQ8WXW3

Polymorphism and mutation databases

BioMutaiPIBF1
DMDMi73920251

Proteomic databases

EPDiQ8WXW3
MaxQBiQ8WXW3
PaxDbiQ8WXW3
PeptideAtlasiQ8WXW3
PRIDEiQ8WXW3
ProteomicsDBi75105
75106 [Q8WXW3-2]
75107 [Q8WXW3-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000326291; ENSP00000317144; ENSG00000083535 [Q8WXW3-1]
ENST00000615625; ENSP00000483286; ENSG00000083535 [Q8WXW3-2]
GeneIDi10464
KEGGihsa:10464
UCSCiuc001vjc.4 human [Q8WXW3-1]

Organism-specific databases

CTDi10464
DisGeNETi10464
EuPathDBiHostDB:ENSG00000083535.15
GeneCardsiPIBF1
HGNCiHGNC:23352 PIBF1
HPAiHPA052269
HPA066120
MalaCardsiPIBF1
MIMi607532 gene
617767 phenotype
neXtProtiNX_Q8WXW3
OpenTargetsiENSG00000083535
Orphaneti475 Joubert syndrome
PharmGKBiPA162399421
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFCG Eukaryota
ENOG410YQJ9 LUCA
GeneTreeiENSGT00390000015293
HOGENOMiHOG000006812
HOVERGENiHBG053599
InParanoidiQ8WXW3
KOiK16538
OMAiQTKNQMA
OrthoDBiEOG091G02OD
PhylomeDBiQ8WXW3
TreeFamiTF329068

Miscellaneous databases

ChiTaRSiPIBF1 human
GeneWikiiC13orf24
GenomeRNAii10464
PROiPR:Q8WXW3
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000083535 Expressed in 212 organ(s), highest expression level in kidney
CleanExiHS_PIBF1
ExpressionAtlasiQ8WXW3 baseline and differential
GenevisibleiQ8WXW3 HS

Family and domain databases

InterProiView protein in InterPro
IPR026205 PIBF1
PANTHERiPTHR18950 PTHR18950, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPIBF1_HUMAN
AccessioniPrimary (citable) accession number: Q8WXW3
Secondary accession number(s): O95664
, Q6U9V2, Q6UG50, Q86V07, Q96SF4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 22, 2003
Last sequence update: August 30, 2005
Last modified: November 7, 2018
This is version 134 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
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