ENSG00000105618


Homo sapiens

Features
Gene ID: ENSG00000105618
  
Biological name :PRPF31
  
Synonyms : pre-mRNA processing factor 31 / PRPF31 / Q8WWY3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: 1
Band: q13.42
Gene start: 54115410
Gene end: 54131719
  
Corresponding Affymetrix probe sets: 202407_s_at (Human Genome U133 Plus 2.0 Array)   202408_s_at (Human Genome U133 Plus 2.0 Array)   214380_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000324122
Ensembl peptide - ENSP00000408980
Ensembl peptide - ENSP00000405166
Ensembl peptide - ENSP00000395894
Ensembl peptide - ENSP00000395089
Ensembl peptide - ENSP00000375635
NCBI entrez gene - 26121     See in Manteia.
OMIM - 606419
RefSeq - XM_006723137
RefSeq - NM_015629
RefSeq Peptide - NP_056444
swissprot - E7EN72
swissprot - E7EU94
swissprot - E7EVX8
swissprot - Q8WWY3
swissprot - E7ESX0
Ensembl - ENSG00000105618
  
Related genetic diseases (OMIM): 600138 - Retinitis pigmentosa 11, 600138
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
 prpf31ENSDARG00000095904Danio rerio
 Prpf31ENSMUSG00000008373Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR002687  Nop domain
 IPR012976  NOSIC
 IPR019175  Prp31 C-terminal
 IPR027105  U4/U6 small nuclear ribonucleoprotein Prp31
 IPR036070  Nop domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000244 spliceosomal tri-snRNP complex assembly IDA
 biological_processGO:0000398 mRNA splicing, via spliceosome IC
 biological_processGO:0006397 mRNA processing IEA
 biological_processGO:0008380 RNA splicing IEA
 biological_processGO:0071166 ribonucleoprotein complex localization IMP
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005681 spliceosomal complex IEA
 cellular_componentGO:0005684 U2-type spliceosomal complex IC
 cellular_componentGO:0005687 U4 snRNP IDA
 cellular_componentGO:0005690 U4atac snRNP TAS
 cellular_componentGO:0015030 Cajal body IDA
 cellular_componentGO:0016607 nuclear speck IDA
 cellular_componentGO:0046540 U4/U6 x U5 tri-snRNP complex IDA
 cellular_componentGO:0071005 U2-type precatalytic spliceosome IDA
 cellular_componentGO:0071011 precatalytic spliceosome IBA
 cellular_componentGO:0071339 MLL1 complex IDA
 molecular_functionGO:0003723 RNA binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0030621 U4 snRNA binding IDA
 molecular_functionGO:0030622 U4atac snRNA binding IDA
 molecular_functionGO:0043021 ribonucleoprotein complex binding IDA
 molecular_functionGO:0070990 snRNP binding IPI


Pathways (from Reactome)
Pathway description
mRNA Splicing - Major Pathway


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000035 Abnormality of the testis 
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 HP:0000135 Hypogonadism "Reduced function of the gonads (testes in males or ovaries in females)." [HPO:curators]
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 HP:0000405 Hearing loss, conductive 
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 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
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 HP:0000431 Broad nasal bridge "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators]
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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:0000501 Glaucoma "Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [HPO:curators]
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 HP:0000510 Retinitis pigmentosa "Hereditary degeneration and atrophy of the retina." [HPO:curators]
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 HP:0000512 Abnormal electroretinogram "Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography." [HPO:curators]
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 HP:0000518 Cataract "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson]
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 HP:0000563 Keratoconus "A cone-shaped deformity of the cornea." [HPO:curators]
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 HP:0000602 Ophthalmoplegia 
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 HP:0000613 Photophobia "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:curators]
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 HP:0000618 Blindness 
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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]
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 HP:0000648 Optic atrophy 
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 HP:0000662 Night blindness 
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 HP:0000842 Hyperinsulinemia 
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 HP:0000987 Scarring 
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 HP:0001249 Mental retardation 
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 HP:0001347 Hyperreflexia "The presence of overactive or overresponsive reflexes." [HPO:curators]
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 HP:0001513 Obesity "A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY)." [MeSH:D009765]
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 HP:0003829 Incomplete penetrance 
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 HP:0005978 Noninsulin-dependent diabetes mellitus 
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 HP:0007401 Primary noninflammatory macular atrophy 
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 HP:0007675 Progressive night blindness 
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 HP:0007703 Abnormal retinal pigmentation 
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 HP:0008046 Abnormality of the retinal vasculature 
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 HP:0008736 Hypoplasia of penis 
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 HP:0040049 Macular edema 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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