PIBF1 - progesterone immunomodulatory binding factor 1 Gene

Also Known as PIBF; CEP90; JBTS33; C13orf24

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10464

About PIBF1

Cytogenetic location: 13q21.33-q22.1 Genomic coordinates (GRCh38): 13:72,782,133-73,016,461 (from NCBI)

This gene has 8 transcripts (splice variants), 216 orthologues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 9.0), testis (RPKM 8.7) and 25 other tissues.

Summary

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]

PIBF1 Products (2)

mRNA Protein Name
NM_001349655.2 NP_001336584.1 progesterone-induced-blocking factor 1 isoform 1
NM_006346.4 NP_006337.2 progesterone-induced-blocking factor 1 isoform 2
Molecular Function GO Annotation Evidence References Source
enables interleukin-4 receptor binding IDA
IDA: Inferred from direct assay
16393965 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
17500595 GOA
Biological Process GO Annotation Evidence References Source
involved in activation of Janus kinase activity IDA
IDA: Inferred from direct assay
16393965 GOA
involved in cilium assembly IMP
IMP: Inferred from mutant phenotype
26167768 GOA
involved in mitotic metaphase chromosome alignment IMP
IMP: Inferred from mutant phenotype
21224392 GOA
involved in mitotic spindle assembly IMP
IMP: Inferred from mutant phenotype
21224392 GOA
involved in negative regulation of interleukin-12 production IDA
IDA: Inferred from direct assay
14634107 GOA
involved in negative regulation of natural killer cell activation IDA
IDA: Inferred from direct assay
12516630 GOA
involved in negative regulation of prostaglandin biosynthetic process IDA
IDA: Inferred from direct assay
3863495 GOA
involved in negative regulation of tyrosine phosphorylation of STAT protein IDA
IDA: Inferred from direct assay
16393965 GOA
involved in non-motile cilium assembly IMP
IMP: Inferred from mutant phenotype
23110211 GOA
involved in positive regulation of interleukin-10 production IDA
IDA: Inferred from direct assay
14634107 GOA
involved in positive regulation of tyrosine phosphorylation of STAT protein IDA
IDA: Inferred from direct assay
16393965 GOA
involved in protein localization to centrosome IMP
IMP: Inferred from mutant phenotype
23110211 GOA
Cellular Component GO Annotation Evidence References Source
located in centriolar satellite IDA
IDA: Inferred from direct assay
21224392 GOA
located in centrosome IDA
IDA: Inferred from direct assay
21399614 GOA
located in extracellular space IDA
IDA: Inferred from direct assay
14634107 GOA
located in nucleus IDA
IDA: Inferred from direct assay
14634107 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

progesterone-induced-blocking factor 1

  • centrosomal protein of 90 kDa

PIBF1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
PIBF1 Q8WXW3 HTT Homo sapiens P42858
Y2H
17500595
Intra
PIBF1 Q8WXW3 PCM1 Homo sapiens Q15154 26297806
Intra
PIBF1 Q8WXW3 CEP63 Homo sapiens Q96MT8 26297806
Intra
PIBF1 Q8WXW3 CEP63 Homo sapiens Q96MT8 26297806
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Joubert Syndrome 33
  • JBTS33

  • Joubert Syndrome, Type 33

Encephalocele
  • Cephalocele

  • Craniocele

  • Bifid Cranium

  • Cranium Bifidum

  • Encephaloceles

Joubert Syndrome 1
  • Joubert Syndrome

  • Jbts

  • Cerebellooculorenal Syndrome 1

  • JBTS1

  • Joubert-Boltshauser Syndrome

  • Cerebelloparenchymal Disorder Iv

  • Cpd4

  • Cors1

  • Joubert Syndrome And Related Disorders

  • Jsrd

  • Familial Aplasia Of The Vermis

  • Joubert Syndrome Related Disorders

  • Js

  • Cerebellar Vermis Agenesis

  • Cerebelloparenchymal Disorder 4

  • Agenesis Of Cerebellar Vermis

  • Cerebello-Oculo-Renal Syndrome

  • Cors

  • Joubert-Bolthauser Syndrome

  • Cpd Iv

  • Classic Joubert Syndrome

  • Joubert Syndrome Type A

  • Pure Joubert Syndrome

  • Cerebello-Oculo-Renal Syndrome 1

  • Joubert Syndrome-1

  • Joubert Syndrome, Type 1

  • Joubert'S Syndrome

Dandy-Walker Syndrome
  • Dandy-Walker Malformation

  • DWS

  • Atresia Of Foramina Of Magendie And Luschka

  • Dandy-Walker Complex

  • Dandy-Walker Cyst

  • Dandy-Walker Deformity

  • Dandy Walker Cyst

  • Dw Complex

  • Dandy-Walker Syndrome Or Malformation

  • Dandy-Walker Variant

  • Mega Cisterna Magna

  • Dwm

  • Hydrocephalus, Internal, Dandy-Walker Type

  • Hydrocephalus, Noncommunicating, Dandy-Walker Type

  • Luschka-Magendie Foramina Atresia

  • Isolated Dandy-Walker Malformation

  • Mega-Cisterna Magna

  • Dandy Walker Variant

  • Atresia Of Foramen Of Luschka

  • Atresia Of Foramen Of Magendie

  • Congenital Blockage Of Foramen Magendie

Breast Lymphoma
  • Lymphoma Of Breast

  • Lymphoma Of The Breast

  • Malignant Lymphoma Of Breast

Placental Abruption
  • Abruptio Placentae

  • Abruptio Placenta

  • Abortion, Threatened

  • Threatened Miscarriage

  • Haemorrhage Specified As Due To Threatened Abortion

  • Spontaneous Threatened Abortion

Pregnancy Loss, Recurrent 1
  • Pregnancy Loss, Recurrent, Susceptibility To, 1

  • Rpl

  • RPRGL1

  • Rprgl

  • Recurrent Miscarriage

  • Recurrent Spontaneous Abortion

  • Abortion, Spontaneous, Recurrent

  • Fetal Loss, Recurrent

  • Fetal Loss, Recurrent, Susceptibility To

  • Miscarriage, Recurrent

  • Embryonic Loss, Recurrent

  • Stillbirth, Recurrent

  • Pregnancy Loss, Recurrent, 1

  • Recurrent Embryonic Loss

  • Recurrent Fetal Loss

  • Recurrent Stillbirth

  • Spontaneous Recurrent Abortion

  • Miscarriage Recurrent

  • Pregnancy Loss, Recurrent, Susceptibility To, Type 1

  • Abortion, Habitual

Fraser Syndrome 2
  • FRASRS2

Nephronophthisis 16
  • NPHP16

  • Nephronophthisis, Type 16

Nephronophthisis 9
  • NPHP9

  • Nephronophthisis, Type 9

Bainbridge-Ropers Syndrome
  • BRPS

  • Severe Feeding Difficulties-Failure To Thrive-Microcephaly Due To Asxl3 Deficiency Syndrome

  • Asxl3-Related Disorder

Microcephaly
  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly

Fundus Dystrophy
  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus PIBF1 RGD RGD:1305077
Bos taurus PIBF1 VGNC VGNC:32859
Canis familiaris PIBF1 VGNC VGNC:44523
Felis catus PIBF1 VGNC VGNC:64161
Mus musculus PIBF1 MGD MGI:1261910
Others PIBF1 NCBI