ENSG00000083535


Homo sapiens

Features
Gene ID: ENSG00000083535
  
Biological name :PIBF1
  
Synonyms : PIBF1 / progesterone immunomodulatory binding factor 1 / Q8WXW3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 13
Strand: 1
Band: q21.33
Gene start: 72782059
Gene end: 73016461
  
Corresponding Affymetrix probe sets: 213239_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000483286
Ensembl peptide - ENSP00000317144
Ensembl peptide - ENSP00000478697
NCBI entrez gene - 10464     See in Manteia.
OMIM - 607532
RefSeq - XM_017020354
RefSeq - NM_006346
RefSeq - XM_017020351
RefSeq - XM_017020352
RefSeq - XM_017020353
RefSeq - XM_011534881
RefSeq - XM_011534882
RefSeq - XM_011534884
RefSeq - XM_011534885
RefSeq - XM_011534886
RefSeq - XM_017020350
RefSeq Peptide - NP_006337
swissprot - Q8WXW3
swissprot - A0A087WUI6
Ensembl - ENSG00000083535
  
Related genetic diseases (OMIM): 617767 - Joubert syndrome 33, 617767
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pibf1ENSDARG00000013006Danio rerio
 PIBF1ENSGALG00000016929Gallus gallus
 Pibf1ENSMUSG00000022064Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR026205  Progesterone-induced-blocking factor 1


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0007080 mitotic metaphase plate congression IMP
 biological_processGO:0031393 negative regulation of prostaglandin biosynthetic process IDA
 biological_processGO:0032695 negative regulation of interleukin-12 production IDA
 biological_processGO:0032733 positive regulation of interleukin-10 production IDA
 biological_processGO:0032815 negative regulation of natural killer cell activation IDA
 biological_processGO:0042531 positive regulation of tyrosine phosphorylation of STAT protein IDA
 biological_processGO:0042532 negative regulation of tyrosine phosphorylation of STAT protein IDA
 biological_processGO:0042976 activation of Janus kinase activity IDA
 biological_processGO:0071539 protein localization to centrosome IMP
 biological_processGO:0090307 mitotic spindle assembly IMP
 biological_processGO:1905515 non-motile cilium assembly IMP
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005813 centrosome IDA
 cellular_componentGO:0005815 microtubule organizing center IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0034451 centriolar satellite IDA
 molecular_functionGO:0005136 interleukin-4 receptor binding IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0042802 identical protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000202 Cleft lip/palate 
Show

 HP:0000238 Hydrocephalus 
Show

 HP:0000276 Long face 
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 HP:0000369 Low-set ears "Low-set ears are defined to be set below an arbitrary line drawn between the lateral canthus of the eye and the occipital protruberance." [HPO:curators]
Show

 HP:0000426 Prominent nasal bridge 
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 HP:0000463 Nares, anteverted "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject." [pmid:19152422]
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 HP:0000486 Strabismus "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators]
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 HP:0000508 Ptosis "Drooping of the eyelid." [HPO:curators]
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 HP:0000612 Iris coloboma "A `coloboma` (HP:0000589) of the `iris` (FMA:58235)." [HPO:probinson]
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 HP:0000639 Nystagmus "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators]
Show

 HP:0000657 Oculomotor apraxia 
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 HP:0000864 Abnormality of the hypothalamus-pituitary axis 
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 HP:0001161 Polydactyly (hands) 
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 HP:0001249 Mental retardation 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
Show

 HP:0001251 Ataxia "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators]
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 HP:0001252 Muscular hypotonia "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001288 Gait disturbance "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators]
Show

 HP:0001320 Cerebellar vermis hypoplasia 
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 HP:0001337 Tremor "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators]
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 HP:0001696 Situs inversus "A left-right reversal (or "mirror reflection") of the anatomical location of the major thoracic and abdominal organs." [HPO:curators]
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 HP:0001829 Polydactyly (feet) 
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 HP:0002084 Encephalocele 
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 HP:0002104 Apnea "Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event." [HPO:curators]
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 HP:0002126 Polymicrogyria "A congenital abnormality of the cerebral hemisphere characterized by an excessive number of small gyri (convolutions) on the surface of the brain." [HPO:curators]
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 HP:0002251 Congenital megacolon "An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon." [HPO:curators]
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 HP:0002553 Arched eyebrows 
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 HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
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 HP:0002876 Tachypnea, episodic 
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 HP:0003312 Abnormal form of the vertebral bodies 
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 HP:0004422 Biparietal narrowing "A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull)." [HPO:curators]
Show

 HP:0007370 Aplasia/Hypoplasia of the corpus callosum "Absence or underdevelopment of the corpus callosum." [HPO:curators]
Show

 HP:0008872 Feeding problems in infancy 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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