1. Gene
  2. PIBF1 - progesterone immunomodulatory binding factor 1 Gene

PIBF1 - progesterone immunomodulatory binding factor 1 Gene

Homo sapiens

Also known as PIBF; CEP90; JBTS33; C13orf24

Gene ID: 10464 | Gene type: protein coding

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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference 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 Reference 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 Reference 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

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