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SF1 (splicing factor 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7536
Gene nameGene Name - the full gene name approved by the HGNC.
Splicing factor 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SF1
SynonymsGene synonyms aliases
BBP, D11S636, MBBP, ZCCHC25, ZFM1, ZNF162
ChromosomeChromosome number
11
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.1
SummarySummary of gene provided in NCBI Entrez Gene.
This gene encodes a nuclear pre-mRNA splicing factor. The encoded protein specifically recognizes the intron branch point sequence at the 3` splice site, together with the large subunit of U2 auxiliary factor (U2AF), and is required for the early stages o
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT021119 hsa-miR-186-5p Sequencing 20371350
MIRT046884 hsa-miR-221-3p CLASH 23622248
MIRT044484 hsa-miR-320a CLASH 23622248
MIRT036661 hsa-miR-935 CLASH 23622248
MIRT267768 hsa-miR-3606-3p PAR-CLIP 20371350
Transcription factors
Transcription factor Regulation Reference
SOX9 Unknown 12837698
USF1 Unknown 18165439
USF2 Unknown 18165439
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000245 Process Spliceosomal complex assembly NAS 8752089
GO:0000389 Process MRNA 3'-splice site recognition TAS 15647371
GO:0000398 Process MRNA splicing, via spliceosome IC 9731529
GO:0000398 Process MRNA splicing, via spliceosome TAS
GO:0003714 Function Transcription corepressor activity TAS 9660765
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q15637
Protein name Splicing factor 1 (Mammalian branch point-binding protein) (BBP) (mBBP) (Transcription factor ZFM1) (Zinc finger gene in MEN1 locus) (Zinc finger protein 162)
Protein function Necessary for the ATP-dependent first step of spliceosome assembly. Binds to the intron branch point sequence (BPS) 5'-UACUAAC-3' of the pre-mRNA. May act as transcription repressor. {ECO:0000269|PubMed:10449420, ECO:0000269|PubMed:8752089, ECO:
PDB 1K1G , 1O0P , 1OPI , 2M09 , 2M0G , 4FXW , 4FXX , 7VH9 , 7VPX , 8PXX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16275 SF1-HH
18 130
Splicing factor 1 helix-hairpin domain
Domain
PF00013 KH_1
137 224
KH domain
Domain
PF00098 zf-CCHC
278 293
Zinc knuckle
Domain
Sequence
MATGANATPLDFPSKKRKRSRWNQDTMEQKTVIPGMPTVIPPGLTREQERAYIVQLQIED
LTRKLRTGDLGIPPNPEDRSPSPEPIYNSEGKRLNTREFRTRKKLEEERHNLITEMVALN
PDFKPPADYK
PPATRVSDKVMIPQDEYPEINFVGLLIGPRGNTLKNIEKECNAKIMIRGK
GSVKEGKVGRKDGQMLPGEDEPLHALVTANTMENVKKAVEQIRN
ILKQGIETPEDQNDLR
KMQLRELARLNGTLREDDNRILRPWQSSETRSITNTTVCTKCGGAGHIASDCKFQRPGDP
QSAQDKARMDKEYLSLMAELGEAPVPASVGSTSGPATTPLASAPRPAAPANNPPPPSLMS
TTQSRPPWMNSGPSESRPYHGMHGGGPGGPGGGPHSFPHPLPSLTGGHGGHPMQHNPNGP
PPPWMQPPPPPMNQGPHPPGHHGPPPMDQYLGSTPVGSGVYRLHQGKGMMPPPPMGMMPP
PPPPPSGQPPPPPSGPLPPWQQQQQQPPPPPPPSSSMASSTPLPWQQNTTTTTTSAGTGS
IPPWQQQQAAAAASPGAPQMQGNPTMVPLPPGVQPPLPPGAPPPPPPPPPGSAGMMYAPP
PPPPPPMDPSNFVTMMGMGVAGMPPFGMPPAPPPPPPQN
Sequence length 639
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    mRNA Splicing - Major Pathway
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Melanoma melanoma rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs1563902635, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050 22535842

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