ENSG00000115524


Homo sapiens

Features
Gene ID: ENSG00000115524
  
Biological name :SF3B1
  
Synonyms : O75533 / SF3B1 / splicing factor 3b subunit 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: -1
Band: q33.1
Gene start: 197389784
Gene end: 197435091
  
Corresponding Affymetrix probe sets: 201070_x_at (Human Genome U133 Plus 2.0 Array)   201071_x_at (Human Genome U133 Plus 2.0 Array)   211185_s_at (Human Genome U133 Plus 2.0 Array)   214305_s_at (Human Genome U133 Plus 2.0 Array)   229303_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000419896
Ensembl peptide - ENSP00000335321
Ensembl peptide - ENSP00000409435
Ensembl peptide - ENSP00000428820
Ensembl peptide - ENSP00000392117
Ensembl peptide - ENSP00000402997
NCBI entrez gene - 23451     See in Manteia.
OMIM - 605590
RefSeq - NM_012433
RefSeq - NM_001005526
RefSeq - NM_001308824
RefSeq Peptide - NP_001005526
RefSeq Peptide - NP_036565
RefSeq Peptide - NP_001295753
swissprot - O75533
swissprot - B4DGZ4
swissprot - F8WC19
swissprot - H7C341
Ensembl - ENSG00000115524
  
Related genetic diseases (OMIM): 614286 - Myelodysplastic syndrome, somatic, 614286
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
 sf3b1ENSDARG00000056138Danio rerio
 SF3B1ENSGALG00000008038Gallus gallus
 Sf3b1ENSMUSG00000025982Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR011989  Armadillo-like helical
 IPR015016  Splicing factor 3B subunit 1
 IPR016024  Armadillo-type fold


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000245 spliceosomal complex assembly IBA
 biological_processGO:0000375 RNA splicing, via transesterification reactions NAS
 biological_processGO:0000398 mRNA splicing, via spliceosome IDA
 biological_processGO:0006397 mRNA processing IEA
 biological_processGO:0008380 RNA splicing IEA
 biological_processGO:0045815 positive regulation of gene expression, epigenetic TAS
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005681 spliceosomal complex NAS
 cellular_componentGO:0005686 U2 snRNP IDA
 cellular_componentGO:0005689 U12-type spliceosomal complex IDA
 cellular_componentGO:0016607 nuclear speck IDA
 cellular_componentGO:0034693 U11/U12 snRNP IDA
 cellular_componentGO:0071004 U2-type prespliceosome IBA
 cellular_componentGO:0071013 catalytic step 2 spliceosome IDA
 molecular_functionGO:0003723 RNA binding IEA
 molecular_functionGO:0003729 mRNA binding IBA
 molecular_functionGO:0005488 binding IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
B-WICH complex positively regulates rRNA expression
mRNA Splicing - Major Pathway
mRNA Splicing - Minor Pathway


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000539 Abnormality of refraction 
Show

 HP:0000541 Detached retina 
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 HP:0000572 Visual loss 
Show

 HP:0001428 Somatic mutation 
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 HP:0002863 Myelodysplasia 
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 HP:0007902 Vitreous hemorrhage 
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 HP:0007906 Increased intraocular pressure 
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 HP:0008494 Inferior lens subluxation 
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 HP:0010920 Zonular cataract "Zonular cataracts are defined to be cataracts that affect specific regions of the lens." [HPO:probinson, HPO:vkumar, pmid:18035564]
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 HP:0011499 Mydriasis "Abnormal dilatation of the iris." [DDD:ncarter]
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 HP:0011524 Iris melanoma "Malignant tumor of melanocytes affecting the iris." [DDD:ncarter]
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 HP:0012054 Choroidal melanoma "Malignant tumor of melanocytes of the choroid. The classic appearance of choroidal melanoma is a pigmented dome-shaped or collar button-shaped tumor with an associated exudative retinal detachment. Choroidal melanoma is usually pigmented, but can be variably pigmented and even amelanotic (non-pigmented)." [HPO:probinson, pmid:22557869]
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 HP:0012055 Ciliary body melanoma "Malignant tumor of melanocytes of the ciliary body." [HPO:probinson]
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 HP:0012508 Metamorphopsia "A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank." [HPO:probinson]
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 HP:0030786 Photopsia "Perceived flashes of light." [HPO:probinson, PMID:10506812]
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 HP:0030800 Abnormal visual accommodation "An anomaly in the process of visual accommodation, which is the process of adjustment of the eye to enable sharp vision of objects at different distances. Accommodation is mediated by contraction of the ciliary muscles, which alter the convexity of the lens and, consequently, its refractive power." [HPO:probinson]
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 HP:0100533 Inflammatory abnormality of the eye "Inflammation of the eye, parts of the eye or the periorbital region." [HPO:sdoelken]
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 HP:0200026 ocular pain 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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