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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SF1 Gene

protein-coding   GIFtS: 58
GCID: GC11M064532

Splicing Factor 1

(Previous name: zinc finger protein 162)
(Previous symbol: ZNF162)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Splicing Factor 11 2     Zinc Finger Gene In MEN1 Locus2 3
ZNF1621 2 3 5     BBP2 3
Zinc Finger Protein 1621 2 3     D11S6362 5
ZFM12 3 5     MBBP2
Mammalian Branch Point-Binding Protein2 3     ZCCHC252
Transcription Factor ZFM12 3     mBBP3

External Ids:    HGNC: 129501   Entrez Gene: 75362   Ensembl: ENSG000001680667   OMIM: 6015165   UniProtKB: Q156373   
ORGUL members:         
NONCODE14:n409298 n333550      

Export aliases for SF1 gene to outside databases

Previous GC identifers: GC11M067047 GC11M066213 GC11M064782 GC11M064307 GC11M064290 GC11M060858


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SF1 Gene:
This gene encodes a nuclear pre-mRNA splicing factor. The encoded protein specifically recognizes the intron
branch point sequence and is required for the early stages of spliceosome assembly. Alternate splicing results in
multiple transcript variants. (provided by RefSeq, May 2010)

GeneCards Summary for SF1 Gene: 
SF1 (splicing factor 1) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with SF1 include familial isolated pituitary adenoma, and wermer syndrome. GO annotations related to this gene include RNA binding and transcription corepressor activity. An important paralog of this gene is KHDRBS2.

UniProtKB/Swiss-Prot: SF01_HUMAN, Q15637
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

Gene Wiki entry for SF1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_167190.1  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SF1 gene promoter:
         AREB6   RFX1   NF-1   Ik-2   Sox9   NF-kappaB1   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSF1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SF1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SF1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q13   Ensembl cytogenetic band:  11q13.1   HGNC cytogenetic band: 11q13

SF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SF1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M064532:  view genomic region     (about GC identifiers)

Start:
64,532,076 bp from pter      End:
64,546,316 bp from pter
Size:
14,241 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for SF1

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SF01_HUMAN, Q15637 (See protein sequence)
Recommended Name: Splicing factor 1  
Size: 639 amino acids; 68330 Da
Subunit: Binds U2AF2. Interacts with U1 snRNA. Binds EWSR1, FUS and TAF15
Subcellular location: Nucleus
Sequence caution: Sequence=AAH00773.1; Type=Erroneous initiation;
5 PDB 3D structures from and Proteopedia for SF1:
1K1G (3D)        2M09 (3D)        2M0G (3D)        4FXW (3D)        4FXX (3D)    
Secondary accessions: B7Z1Q1 C9JJE2 Q14818 Q14819 Q15913 Q8IY00 Q92744 Q92745 Q969H7 Q9BW01
Q9UEI0
Alternative splicing: 7 isoforms:  Q15637-1   Q15637-2   Q15637-3   Q15637-4   Q15637-5   Q15637-6   Q15637-7   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SF1: NX_Q15637

Explore proteomics data for SF1 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation on Ser-20 interferes with U2AF2 binding and spliceosome assembly. Isoform 6 is phosphorylated on
    Ser-463
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q15637

  • SF1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SF1 Protein Expression
    REFSEQ proteins (6 alternative transcripts): 
    NP_001171501.1  NP_001171502.1  NP_004621.2  NP_973724.1  NP_973726.2  NP_973727.1  

    ENSEMBL proteins: 
     ENSP00000366604   ENSP00000366607   ENSP00000227503   ENSP00000407962   ENSP00000366611  
     ENSP00000334414   ENSP00000391198   ENSP00000395927   ENSP00000396793   ENSP00000419062  
     ENSP00000388470   ENSP00000406354   ENSP00000413084  

    Human Recombinant Protein Products for SF1: 
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    Novus Biologicals SF1 Proteins
    Novus Biologicals SF1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SF1 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS7912130
    GO:0005681spliceosomal complex IDA9731529
    GO:0005730NOT nucleolus IDA--
    GO:0005840ribosome NAS8752089

    SF1 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for SF1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ZCCHC: Zinc fingers, CCHC domain containing

    3 InterPro protein domains:
     IPR004087 KH_dom
     IPR004088 KH_dom_type_1
     IPR001878 Znf_CCHC

    Graphical View of Domain Structure for InterPro Entry Q15637

    ProtoNet protein and cluster: Q15637

    3 Blocks protein domains:
    IPB001878 C2HC-type zinc-finger signature
    IPB004087 KH domain
    IPB004088 KH


    UniProtKB/Swiss-Prot: SF01_HUMAN, Q15637
    Similarity: Belongs to the BBP/SF1 family
    Similarity: Contains 1 CCHC-type zinc finger
    Similarity: Contains 1 KH domain


    SF1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SF01_HUMAN, Q15637
    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

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding NAS--
    GO:0003714transcription corepressor activity TAS9660765
    GO:0003723RNA binding TAS8752089
    GO:0008270zinc ion binding IEA--
         
    SF1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SF1:
     Increased circadian period len 

         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Sf1):
     endocrine/exocrine gland  homeostasis/metabolism  mortality/aging  reproductive system  tumorigenesis 

    SF1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SF1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SF1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SF1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SF1 

    miRNA
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    hsa-miR-4272 hsa-miR-374a hsa-miR-3150b-3p hsa-miR-298 hsa-miR-149 hsa-miR-34b hsa-miR-497* hsa-miR-181b
    SwitchGear 3'UTR luciferase reporter plasmidSF1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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                         Customized lentivirus expression plasmids for stable overexpression of SF1 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SF1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SF1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Oct4 in Mammalian ESC Pluripotency
    Oct4 in Mammalian ESC Pluripotency

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for SF1
        Oct4 in Mammalian ESC Pluripotency


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/80 Interacting proteins for SF1 (Q156372, 3 ENSP000003666074) via UniProtKB, MINT, STRING, and/or I2D (see all 80)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SF3A2Q154282, 3, ENSP000002214944MINT-5206115 I2D: score=1 STRING: ENSP00000221494
    CD2BP2O954002, 3, ENSP000003049034MINT-62842 MINT-62843 MINT-62844 I2D: score=1 STRING: ENSP00000304903
    U2AF2P263682, 3, ENSP000003078634MINT-8334186 I2D: score=5 STRING: ENSP00000307863
    DDX17Q928412, 3, ENSP000003800334MINT-8335099 I2D: score=3 STRING: ENSP00000380033
    RBPMSQ930623, ENSP000003401764I2D: score=4 STRING: ENSP00000340176
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000245spliceosomal complex assembly NAS8752089
    GO:0000389mRNA 3'-splice site recognition TAS15647371
    GO:0000398mRNA splicing, via spliceosome IC9731529
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent IEA--

    SF1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SF1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SF1 (SF01)

    4 Novoseek inferred chemical compound relationships for SF1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 23.6 5 9150722 (2), 8752089 (2), 10103072 (1)
    glutamine 14.1 2 7912130 (1), 9660765 (1)
    atp 0 3 17159905 (1), 16376933 (1)
    serine 0 2 11467860 (1), 9660765 (1)

    Search CenterWatch for drugs/clinical trials and news about SF1 / SF01

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SF1 gene (6 alternative transcripts): 
    NM_001178030.1  NM_001178031.1  NM_004630.3  NM_201995.2  NM_201997.2  NM_201998.2  

    Unigene Cluster for SF1:

    Splicing factor 1
    Hs.502829  [show with all ESTs]
    Unigene Representative Sequence: NM_004630
    18/20 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000377387(uc001oaz.2) ENST00000377390(uc010rnn.2 uc001obb.2)
    ENST00000227503 ENST00000448404(uc010rnm.2) ENST00000377394 ENST00000334944(uc001oba.2 uc001obd.2 uc001obc.2 uc001obe.2 uc010rno.2)
    ENST00000443908 ENST00000413725 ENST00000433274 ENST00000486867 ENST00000477596
    ENST00000489544 ENST00000486960 ENST00000496969 ENST00000413951 ENST00000432725
    ENST00000482693 ENST00000472725
    miRNA
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    8/42 QIAGEN miScript miRNA Assays for microRNAs that regulate SF1 (see all 42):
    hsa-miR-4272 hsa-miR-374a hsa-miR-3150b-3p hsa-miR-298 hsa-miR-149 hsa-miR-34b hsa-miR-497* hsa-miR-181b
    SwitchGear 3'UTR luciferase reporter plasmidSF1 3' UTR sequence
    Inhib. RNA
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    Clone
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    OriGene ORF clones in mouse, rat for SF1
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    GenScript: all cDNA clones in your preferred vector: SF1 (NM_001192)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SF1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SF1
    Sirion Biotech Customized lentivirus for stable overexpression of SF1 
                         Customized lentivirus expression plasmids for stable overexpression of SF1 
    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SF1

    Additional mRNA sequence: 

    AK293753.1 AK296237.1 AK299705.1 AK301803.1 BC000773.1 BC008080.2 BC008724.2 BC011657.2 
    BC020217.1 BC032676.1 BC034451.1 BC038446.1 BC069273.1 D26120.1 EF212249.1 L49345.1 
    L49380.1 NR_033649.1 NR_033650.1 Y08765.1 Y08766.1 

    24/34 DOTS entries (see all 34):

    DT.453245  DT.92052442  DT.100668574  DT.92414509  DT.95175463  DT.100038621  DT.100668569  DT.120757077 
    DT.405930  DT.100035328  DT.100668580  DT.419484  DT.120757155  DT.99985032  DT.120757121  DT.99995080 
    DT.95298250  DT.120757081  DT.120757161  DT.100801676  DT.100668581  DT.102835230  DT.120757068  DT.120757147 

    24/727 AceView cDNA sequences (see all 727):

    BE249835 AA430696 BQ644739 BQ877787 AI950803 BU556495 BM727369 BU190001 
    BU680912 BQ431646 AA378830 BP364160 CR600558 BX367040 BM875420 BQ223039 
    BU179509 BU169686 BM457074 BU517279 NM_201998 AI138242 AL541072 BC008724 

    GeneLoc Exon Structure

    5/20 Alternative Splicing Database (ASD) splice patterns (SP) for SF1 (see all 20)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b · 9c · 9d ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a · 13b ^
    SP1:                    -     -                 -           -     -     -                       -                                                               
    SP2:                    -     -                 -           -     -     -                       -                                                               
    SP3:                    -     -                 -     -     -     -     -                       -                                                               
    SP4:                                            -     -     -     -     -                       -                                                               
    SP5:                                                                                                                                                            

    ExUns: 14 ^ 15a · 15b · 15c · 15d ^ 16a · 16b ^ 17a · 17b ^ 18a · 18b · 18c ^ 19
    SP1:                                -                             -     -         
    SP2:                                -                                             
    SP3:                                                                              
    SP4:                                                                              
    SP5:                                -                                             


    ECgene alternative splicing isoforms for SF1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SF1 expression in normal human tissues (normalized intensities)      SF1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGTGATTCT
    SF1 Expression
    About this image


    SF1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/24 selected tissues (see all 24) fully expand
     
     Brain (Nervous System)    fully expand to see all 11 entries
             Thalamus
             Olfactory Bulb   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             colon ; peripheral nerve/ganglion   
     
     Tonsil (Hematopoietic System)    fully expand to see all 3 entries
             tonsil ; squamous epithelial cells   
     
     Lung (Respiratory System)    fully expand to see all 3 entries
             lung ; pneumocytes   

    See SF1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SF1

    SOURCE GeneReport for Unigene cluster: Hs.502829

    UniProtKB/Swiss-Prot: SF01_HUMAN, Q15637
    Tissue specificity: Detected in lung, ovary, adrenal gland, colon, kidney, muscle, pancreas, thyroid, placenta,
    brain, liver and heart

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for SF1 gene from 7/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sf11 , 5 splicing factor 11, 5 93.48(n)1
    99.37(a)1
      19 (4.48 cM)5
    226681  NM_001110791.11  NP_001104261.11 
     63636905 
    lizard
    (Anolis carolinensis)
    Reptilia SF16
    splicing factor 1
    73(a)
    1 ↔ 1
    GL344137.1(37738-57943)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC046717.12   -- 81.21(n)    BC046717.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sf12 Danio rerio cDNA clone IMAGE6791041, containing frame-shift more 78.36(n)    BC056288.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta SF11 Splicing factor 1 57.54(n)
    56.22(a)
      43912  NM_079915.2  NP_524654.2 
    worm
    (Caenorhabditis elegans)
    Secernentea Y116A8C.323
    sfa-11
    Protein SFA-11 51(a)3
    51.38(n)1
    47.68(a)1
      IV(17104701-17111138)3
    1784861  NM_070632.41  NP_503033.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MSL51 Msl5p 44.91(n)
    40.38(a)
      850807   NP_013217.1 


    ENSEMBL Gene Tree for SF1 (if available)
    TreeFam Gene Tree for SF1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SF1 gene
    KHDRBS22  KHDRBS32  KHDRBS12  QKI2  

    SF1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/429 SNPs in SF1 are shown (see all 429)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0171964
    ----see VAR_0171962 S T mis40--------
    rs1847020881,2
    --60858433(+) GAGAAA/GGAAAA 8 -- ds50010--------
    rs1908027391,2
    --60858625(+) CAGAGA/GCTAGA 8 -- ds50010--------
    rs1413071471,2
    --60858634(+) GAAAAA/CTGAGC 8 -- ds50010--------
    rs1484497081,2
    C--60858791(+) TCTCA-/CCCCCC 8 -- ds50010--------
    rs1815083741,2
    --60858799(+) CCCCCA/GGACCT 8 -- ds50010--------
    rs1853044891,2
    --60859046(+) GCAGTA/GTACAT 8 -- ut31 nc-transcript-variant0--------
    rs79451771,2
    C,F--60859117(+) CAAGGA/C/GGCTCA 16 -- ut31 nc-transcript-variantese34NA CSA WA 123
    rs715817991,2
    C,F--60859120(+) GGGGCT/ACAAAC 8 -- ut31 nc-transcript-variant1Minor allele frequency- A:0.03WA 118
    rs10595051,2
    A--60859166(-) GTTTTG/TTTTTA 8 -- ut31 nc-transcript-variant2Minor allele frequency- T:0.00MN NA 186

    HapMap Linkage Disequilibrium report for SF1 (64532076 - 64546316 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/11 variations for SF1 (see all 11):    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv897702CNV Loss21882294
    dgv1172n71CNV Loss21882294
    nsv528506CNV Loss19592680
    nsv897703CNV Loss21882294
    nsv469962CNV Loss18288195
    nsv897694CNV Loss21882294
    nsv832189CNV Loss17160897
    dgv153n27CNV Loss19166990
    dgv1171n71CNV Loss21882294
    nsv818842CNV Gain17921354

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601516    OMIM disorders: --

    10 diseases for SF1:    About MalaCards
    familial isolated pituitary adenoma    wermer syndrome    multiple endocrine neoplasia    gout
    pituitary adenoma    malignant mesothelioma    adenoma    renal cell carcinoma
    thyroiditis    leukemia


    SF1 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for SF1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    multiple endocrine neoplasia type 1 63.6 2 9150722 (1), 9506990 (1)

    Genetic Association Database (GAD): SF1

    Export disorders for SF1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SF1 gene, integrated from 9 sources (see all 96):
    (articles sorted by number of sources associating them with SF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Diverse modes of alternative splicing of human splicing factor SF1 deduced from the exon-intron structure of the gene. (PubMed id 9573336)1, 2, 3, 9 Kramer A....Mulhauser F. (1998)
    2. Isolation and characterization of a novel gene encoding nuclear protein at a locus (D11S636) tightly linked to multiple endocrine neoplasia type 1 (MEN1). (PubMed id 7912130)1, 2, 3, 9 Toda T.... Imai T. (1994)
    3. The transcriptional repressor ZFM1 interacts with and modulates the ability of EWS to activate transcription. (PubMed id 9660765)1, 2, 9 Zhang D.... Childs G. (1998)
    4. Mammalian splicing factor SF1 is encoded by variant cDNAs and binds to RNA. (PubMed id 8752089)1, 2, 9 Arning S.... Kraemer A. (1996)
    5. Structural basis for recognition of the intron branch site RNA by splicing factor 1. (PubMed id 11691992)1, 2, 9 Liu Z....Sattler M. (2001)
    6. Genome-wide association study for serum urate concent rations and gout among African Americans identifies genomic risk loci and a nov el URAT1 loss-of-function allele. (PubMed id 21768215)1, 4 Tin A....KAPttgen A. (2011)
    7. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (2006)
    8. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. Structural basis for the molecular recognition between human splicing factors U2AF65 and SF1/mBBP. (PubMed id 12718882)1, 2 Selenko P.... Sattler M. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7536 HGNC: 12950 AceView: SF1 Ensembl:ENSG00000168066 euGenes: HUgn7536
    ECgene: SF1 H-InvDB: SF1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SF1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SF1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SF1 gene:
    Search GeneIP for patents involving SF1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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