Seroatlas · Human Serome Atlas

PIBF1

Progesterone-induced-blocking factor 1

Also known as: C13orf24, CEP90, PIBF, PIBF1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q8WXW3
Gene: PIBF1
Ensembl: ENSG00000083535
Chromosome: 13
Canonical length: 757 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted secreted proteins
Subcellular location: Centriolar satellite,Centrosome,Basal body
Secretome location: Secreted to blood

OverviewNCBI 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, natural killer (NK) cell activity, and arachidonic acid metabolism. Low serum levels of this protein have been associated with spontaneous pre-term labor in humans. This protein may promote the proliferation, migration and invasion of glioma. [provided by RefSeq, Mar 2017]

Canonical amino-acid sequenceUniProt

757 residues, UniProt reviewed canonical sequence.

>Q8WXW3|PIBF1
     1  MSRKISKESK KVNISSSLES EDISLETTVP TDDISSSEER EGKVRITRQL IERKELLHNI
    61  QLLKIELSQK TMMIDNLKVD YLTKIEELEE KLNDALHQKQ LLTLRLDNQL AFQQKDASKY
   121  QELMKQEMET ILLRQKQLEE TNLQLREKAG DVRRNLRDFE LTEEQYIKLK AFPEDQLSIP
   181  EYVSVRFYEL VNPLRKEICE LQVKKNILAE ELSTNKNQLK QLTETYEEDR KNYSEVQIRC
   241  QRLALELADT KQLIQQGDYR QENYDKVKSE RDALEQEVIE LRRKHEILEA SHMIQTKERS
   301  ELSKEVVTLE QTVTLLQKDK EYLNRQNMEL SVRCAHEEDR LERLQAQLEE SKKAREEMYE
   361  KYVASRDHYK TEYENKLHDE LEQIRLKTNQ EIDQLRNASR EMYERENRNL REARDNAVAE
   421  KERAVMAEKD ALEKHDQLLD RYRELQLSTE SKVTEFLHQS KLKSFESERV QLLQEETARN
   481  LTQCQLECEK YQKKLEVLTK EFYSLQASSE KRITELQAQN SEHQARLDIY EKLEKELDEI
   541  IMQTAEIENE DEAERVLFSY GYGANVPTTA KRRLKQSVHL ARRVLQLEKQ NSLILKDLEH
   601  RKDQVTQLSQ ELDRANSLLN QTQQPYRYLI ESVRQRDSKI DSLTESIAQL EKDVSNLNKE
   661  KSALLQTKNQ MALDLEQLLN HREELAAMKQ ILVKMHSKHS ENSLLLTKTE PKHVTENQKS
   721  KTLNVPKEHE DNIFTPKPTL FTKKEAPEWS KKQKMKT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PIBF1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Secreted
Secreted: Yes
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.51
Highest tissue expression: 15 nTPM

Expression across tissuesHPA

Tissue

thyroid gland: 15 nTPM
testis: 13 nTPM
ovary: 13 nTPM
thymus: 12 nTPM
breast: 11 nTPM
cervix: 11 nTPM

Single-cell type

choroid plexus epithelial cells: 567 nCPM
early spermatids: 426 nCPM
lactotrophs: 334 nCPM
somatotrophs: 298 nCPM
respiratory ciliated cells: 287 nCPM
respiratory deuterosomal cells: 273 nCPM

Immune cell

naive CD4 T-cell: 8.7 nTPM
NK-cell: 8.7 nTPM
basophil: 8.3 nTPM
naive CD8 T-cell: 7.3 nTPM
memory CD8 T-cell: 6.5 nTPM
MAIT T-cell: 6.4 nTPM

Brain region

choroid plexus: 23 nTPM
cerebellum: 17 nTPM
white matter: 14 nTPM
basal ganglia: 13 nTPM
cerebral cortex: 13 nTPM
medulla oblongata: 13 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PIBF1.

Disease | AllUniProt

Conditions PIBF1 is implicated in, by any mechanism.

Joubert syndrome 33 (JBTS33) MIM:617767

Disease | GeneticClinVar

18 pathogenic / likely-pathogenic of 250 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Joubert syndrome 33
PIBF1-related disorder
Dandy-Walker syndrome
Cephalocele
Joubert syndrome

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.72
gnomAD pLI: 0
gnomAD missense Z: -0.46
DepMap mean gene effect: 0.06
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

interleukin-4 receptor binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

Progesterone-induced-blocking factor 1

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PIBF1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PIBF1 as an antibody target. Whether an autoantibody or antibody against PIBF1 could matter depends on whether native PIBF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PIBF1 is annotated as secreted, so native PIBF1 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label PIBF1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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