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SF1 Gene

protein-coding   GIFtS: 58
GCID: GC11M064532

Splicing Factor 1

(Previous name: zinc finger protein 162)
(Previous symbol: ZNF162)
  See SF1-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)
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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   

Export aliases for SF1 gene to outside databases

Previous GC identifers: GC11M067047 GC11M066213 GC11M064782 GC11M064307 GC11M064290 GC11M060858


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. Diseases associated with SF1 include premature ovarian failure 7, and spermatogenic failure 8. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NT_167190.2  NC_018922.2  
Regulatory elements:
   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 Chromatin IP Primers for SF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
Sequence caution: Sequence=AAH00773.1; Type=Erroneous initiation;
6 PDB 3D structures from and Proteopedia for SF1:
1K1G (3D)        1OPI (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: 

  • Phosphorylation on Ser-20 interferes with U2AF2 binding and spliceosome assembly. Isoform 6 is phosphorylated on
    Ser-4631
  • Ubiquitination2 at Lys227
  • Modification sites at PhosphoSitePlus

  • See SF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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  

    SF1 Human Recombinant Protein Products:

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

     
    Search eBioscience for Proteins for SF1 

     
    antibodies-online proteins for SF1 (3 products) 

     
    antibodies-online peptides for SF1

    SF1 Antibody Products:

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    LSBio Antibodies in human, mouse, rat for SF1
    antibodies-online antibodies for SF1 (57 products) 

    SF1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for SF1
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    antibodies-online kits for SF1 (6 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with SF1           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003714transcription corepressor activity TAS9660765
    GO:0003723RNA binding TAS8752089
    GO:0008270zinc ion binding IEA--
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with SF1           About GenesLikeMe


    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 

    Find genes that share phenotypes with SF1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SF1
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       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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    miRTarBase miRNAs that target SF1:
    hsa-mir-221-3p (MIRT046884), hsa-mir-186-5p (MIRT021119), hsa-mir-935 (MIRT036661), hsa-mir-320a (MIRT044484)

    Block miRNA regulation of human, mouse, rat SF1 using miScript Target Protectors
    Selected qRT-PCR 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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    OriGene RNAi products in human, mouse, rat for SF1
    Predesigned siRNA for gene silencing in human, mouse, rat SF1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: SF1 (NM_001192)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SF1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SF1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SF1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SF01_HUMAN, Q15637: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5

    Gene Ontology (GO): 4 cellular component terms:    About this table

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

    Find genes that share ontologies with SF1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    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 GeneGlobe Pathway Central Maps for SF1
        Oct4 in Mammalian ESC Pluripotency


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SF1
    Interactions:

        GeneGlobe Interaction Network for SF1

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

    Selected Interacting proteins for SF1 (Q156372, 3 ENSP000003666074) via UniProtKB, MINT, STRING, and/or I2D (see all 163)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DDX17Q928412, 3, ENSP000003800334MINT-8335099 I2D: score=3 STRING: ENSP00000380033
    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
    RBPMSQ930623, ENSP000003401764I2D: score=4 STRING: ENSP00000340176
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    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-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--

    Find genes that share ontologies with SF1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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)



    Find genes that share compounds with SF1           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    Selected 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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    Selected qRT-PCR 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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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    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
    Primer
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    OriGene qPCR primer pairs and template standards for SF1
    OriGene qSTAR qPCR primer pairs in human, mouse for SF1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SF1
      QuantiTect SYBR Green Assays in human, mouse, rat SF1
      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 

    Selected 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 

    Selected AceView cDNA sequences (see all 727):

    BM727369 BE218465 BM810614 AA326547 AI004083 BQ892663 BM479473 BC020217 
    BQ424885 CR600558 AI902499 BM922454 BG747206 BU190001 AA912747 BU517089 
    BX353171 C00412 BQ887185 AL040803 CD516618 BU859217 BI711385 BF968712 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    SF1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 21) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebellum
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Ovary (Reproductive System)
             Oviduct
     
     NULL (Uncategorized)
             Intermediate mesoderm derivatives
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    SF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SF1 Protein Expression

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

    Orthologs for SF1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sf15 splicing factor 1   --   19 (4.48 cM) 6363690 
    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 SF16
    Splicing factor 1
    34(a)
    1 ↔ 1
    3R(13366143-13370870)
    worm
    (Caenorhabditis elegans)
    Secernentea Y116A8C.323   -- 51(a)   IV(17104701-17111138)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MSL56
    Component of the commitment complex, which defines...
    35(a)
    1 → many
    XII(380822-382252) YLR116W


    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)
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    Paralogs for SF1 gene
    KHDRBS22  KHDRBS32  KHDRBS12  QKI2  

    Find genes that share paralogs with SF1           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SF1 (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
    ----------
    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
    rs115473071,2
    C--60859275(-) AGCTCC/TCTCGG 8 -- ut31 nc-transcript-variantese32Minor allele frequency- T:0.00NA 4

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

    Structural Variations
         Database of Genomic Variants (DGV) Selected 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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SF1
    DNA2.0 Custom Variant and Variant Library Synthesis for SF1

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

    5 diseases for SF1:    
    About MalaCards
    premature ovarian failure 7    spermatogenic failure 8    adrenocortical insufficiency    46xy sex reversal 3
    familial isolated pituitary adenoma


    Find genes that share disorders with SF1           About GenesLikeMe

    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)
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    PubMed articles for SF1 gene, integrated from 10 sources (see all 102):
    (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 Kraemer A.... Mulhauser F. (Gene 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. (Hum. Mol. Genet. 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. (J. Biol. Chem. 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. (RNA 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. (Science 2001)
    6. Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele. (PubMed id 21768215)1, 4 Tin A....KAPttgen A. (Hum. Mol. Genet. 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. (Nat. Biotechnol. 2006)
    8. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 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. (Genome Res. 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. (Mol. Cell 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 7536 HGNC: 12950 AceView: SF1 Ensembl:ENSG00000168066 euGenes: HUgn7536
    ECgene: SF1 H-InvDB: SF1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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