Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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7536 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Splicing factor 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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SF1 |
SynonymsGene synonyms aliases
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BBP, D11S636, MBBP, ZCCHC25, ZFM1, ZNF162 |
ChromosomeChromosome number
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11 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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11q13.1 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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.
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Transcription factors
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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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 |
GO:0003723 |
Function |
RNA binding |
HDA |
22658674, 22681889 |
GO:0003723 |
Function |
RNA binding |
TAS |
8752089 |
GO:0003729 |
Function |
MRNA binding |
IBA |
21873635 |
GO:0005515 |
Function |
Protein binding |
IPI |
10449420, 12718882, 16189514, 17332742, 17589525, 22365833, 23273425, 25416956, 26420826, 31515488 |
GO:0005634 |
Component |
Nucleus |
IBA |
21873635 |
GO:0005634 |
Component |
Nucleus |
NAS |
7912130 |
GO:0005654 |
Component |
Nucleoplasm |
IDA |
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GO:0005654 |
Component |
Nucleoplasm |
TAS |
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GO:0005681 |
Component |
Spliceosomal complex |
IDA |
9731529 |
GO:0005840 |
Component |
Ribosome |
NAS |
8752089 |
GO:0008270 |
Function |
Zinc ion binding |
IEA |
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GO:0042802 |
Function |
Identical protein binding |
IPI |
22365833, 26420826 |
GO:0045131 |
Function |
Pre-mRNA branch point binding |
IEA |
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GO:0045892 |
Process |
Negative regulation of transcription, DNA-templated |
IEA |
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GO:0048024 |
Process |
Regulation of mRNA splicing, via spliceosome |
IBA |
21873635 |
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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
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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 |
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Sequence |
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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.
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Associated diseases
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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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