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Aliases for SF1 Gene

Aliases for SF1 Gene

  • Splicing Factor 1 2 3 5
  • Zinc Finger Protein 162 2 3 4
  • Mammalian Branch Point-Binding Protein 3 4
  • Zinc Finger Gene In MEN1 Locus 3 4
  • Transcription Factor ZFM1 3 4
  • ZNF162 3 4
  • MBBP 3 4
  • ZFM1 3 4
  • BBP 3 4
  • D11S636 3
  • ZCCHC25 3

External Ids for SF1 Gene

Previous HGNC Symbols for SF1 Gene

  • ZNF162

Previous GeneCards Identifiers for SF1 Gene

  • GC11M067047
  • GC11M066213
  • GC11M064782
  • GC11M064307
  • GC11M064290
  • GC11M064532
  • GC11M060858

Summaries for SF1 Gene

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 at the 3' splice site, together with the large subunit of U2 auxiliary factor (U2AF), and is required for the early stages of spliceosome assembly. It also plays a role in nuclear pre-mRNA retention and transcriptional repression. The encoded protein contains an N-terminal U2AF ligand motif, a central hnRNP K homology motif and quaking 2 region which bind a key branch-site adenosine within the branch point sequence, a zinc knuckles domain, and a C-terminal proline-rich domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]

GeneCards Summary for SF1 Gene

SF1 (Splicing Factor 1) is a Protein Coding gene. Diseases associated with SF1 include Multiple Endocrine Neoplasia, Type I. Among its related pathways are Gene Expression and mRNA Splicing - Major Pathway. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is QKI.

UniProtKB/Swiss-Prot for SF1 Gene

  • 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

Additional gene information for SF1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SF1 Gene

Genomics for SF1 Gene

GeneHancer (GH) Regulatory Elements for SF1 Gene

Promoters and enhancers for SF1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I064776 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 -0.2 -167 4.8 HDGF FOXA2 PKNOX1 CLOCK ARNT ARID4B SIN3A ZNF2 YY1 POLR2B ENSG00000269038 GC11P064779 SF1 RASGRP2 MAP3K11 MEN1 GC11M064785
GH11I065470 Promoter/Enhancer 2.9 VISTA FANTOM5 Ensembl ENCODE dbSUPER 189.7 -711.2 -711240 40 CLOCK MLX ZFP64 FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 LOC105369346 SF1 PCNX3 POLA2 ZFPL1 EIF1AD SART1 MUS81 LOC105369352 KAT5
GH11I065414 Promoter/Enhancer 2.4 FANTOM5 Ensembl ENCODE dbSUPER 122.5 -645.3 -645337 18.8 CLOCK MLX ZFP64 FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 NEAT1 ENSG00000277599 ENSG00000278050 ENSG00000278144 GC11P065529 SF1 ZFPL1 EIF1AD POLA2 PCNX3
GH11I065377 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 43.3 -603.6 -603638 10.3 MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 ZNF143 ZNF263 SP3 FRMD8 SLC25A45 SF1 PCNX3 POLA2 MUS81 NEAT1 SART1 EIF1AD RELA
GH11I065567 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 45.3 -794.8 -794830 12 MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 SSSCA1 EHBP1L1 FAM89B PCNX3 SF1 EIF1AD POLA2 LOC105369352 NEAT1 ZFPL1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SF1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SF1 gene promoter:

Genomic Locations for SF1 Gene

Genomic Locations for SF1 Gene
chr11:64,764,604-64,778,844
(GRCh38/hg38)
Size:
14,241 bases
Orientation:
Minus strand
chr11:64,532,076-64,546,316
(GRCh37/hg19)

Genomic View for SF1 Gene

Genes around SF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SF1 Gene

Proteins for SF1 Gene

  • Protein details for SF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15637-SF01_HUMAN
    Recommended name:
    Splicing factor 1
    Protein Accession:
    Q15637
    Secondary Accessions:
    • B7Z1Q1
    • C9JJE2
    • Q14818
    • Q14819
    • Q15913
    • Q8IY00
    • Q92744
    • Q92745
    • Q969H7
    • Q9BW01
    • Q9UEI0

    Protein attributes for SF1 Gene

    Size:
    639 amino acids
    Molecular mass:
    68330 Da
    Quaternary structure:
    • Binds U2AF2. Interacts with U1 snRNA. Binds EWSR1, FUS and TAF15. Interacts with RBM17.
    SequenceCaution:
    • Sequence=AAH00773.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SF1 Gene

    Alternative splice isoforms for SF1 Gene

neXtProt entry for SF1 Gene

Post-translational modifications for SF1 Gene

  • Phosphorylation on Ser-20 interferes with U2AF2 binding and spliceosome assembly. Isoform 6 is phosphorylated on Ser-463.
  • Ubiquitination at isoforms=2, 3, 4, 5, 6, 7227 and posLast=454454
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SF1 Gene

Domains & Families for SF1 Gene

Gene Families for SF1 Gene

Graphical View of Domain Structure for InterPro Entry

Q15637

UniProtKB/Swiss-Prot:

SF01_HUMAN :
  • Belongs to the BBP/SF1 family.
Family:
  • Belongs to the BBP/SF1 family.
genes like me logo Genes that share domains with SF1: view

Function for SF1 Gene

Molecular function for SF1 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for SF1 Gene

Gene Ontology (GO) - Molecular Function for SF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003714 transcription corepressor activity TAS 9660765
GO:0003723 RNA binding TAS,IEA 8752089
GO:0005515 protein binding IPI 16189514
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with SF1: view
genes like me logo Genes that share phenotypes with SF1: view

miRNA for SF1 Gene

miRTarBase miRNAs that target SF1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SF1 Gene

Localization for SF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SF1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SF1 gene
Compartment Confidence
nucleus 5

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus NAS 7912130
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex IDA 9731529
GO:0005840 ribosome NAS 8752089
GO:0016604 nuclear body IEA --
genes like me logo Genes that share ontologies with SF1: view

Pathways & Interactions for SF1 Gene

genes like me logo Genes that share pathways with SF1: view

Pathways by source for SF1 Gene

SIGNOR curated interactions for SF1 Gene

Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for SF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000245 spliceosomal complex assembly NAS 8752089
GO:0000389 mRNA 3-splice site recognition TAS 15647371
GO:0000398 mRNA splicing, via spliceosome TAS,IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with SF1: view

Drugs & Compounds for SF1 Gene

(4) Drugs for SF1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with SF1: view

Transcripts for SF1 Gene

Unigene Clusters for SF1 Gene

Splicing factor 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SF1 Gene

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:
SP6: - - - -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: - - - - -
SP13: - -
SP14:
SP15: -
SP16:
SP17: - - -
SP18:
SP19: - -
SP20:

ExUns: 14 ^ 15a · 15b · 15c · 15d ^ 16a · 16b ^ 17a · 17b ^ 18a · 18b · 18c ^ 19
SP1: - - -
SP2: -
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8: -
SP9: -
SP10: - -
SP11: -
SP12:
SP13:
SP14: - -
SP15:
SP16:
SP17:
SP18: - - -
SP19:
SP20:

Relevant External Links for SF1 Gene

GeneLoc Exon Structure for
SF1
ECgene alternative splicing isoforms for
SF1

Expression for SF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SF1 Gene

Protein differential expression in normal tissues from HIPED for SF1 Gene

This gene is overexpressed in Lymph node (13.7) and NK cells (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SF1 Gene



Protein tissue co-expression partners for SF1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SF1 Gene:

SF1

SOURCE GeneReport for Unigene cluster for SF1 Gene:

Hs.502829

mRNA Expression by UniProt/SwissProt for SF1 Gene:

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

Evidence on tissue expression from TISSUES for SF1 Gene

  • Nervous system(4.9)
  • Muscle(4.5)
  • Skin(4.5)
  • Blood(4.4)
  • Eye(4.4)
  • Kidney(4.4)
  • Liver(4.4)
  • Bone(4)
  • Lung(3.3)
  • Intestine(2.5)
  • Bone marrow(2.3)
  • Thyroid gland(2.3)
  • Lymph node(2.1)
  • Spleen(2.1)
genes like me logo Genes that share expression patterns with SF1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SF1 Gene

Orthologs for SF1 Gene

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

Orthologs for SF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SF1 33 34
  • 99.69 (n)
dog
(Canis familiaris)
Mammalia SF1 33 34
  • 95.51 (n)
oppossum
(Monodelphis domestica)
Mammalia SF1 34
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SF1 34
  • 89 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SF1 34
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sf1 34
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SF1 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.5953 33
zebrafish
(Danio rerio)
Actinopterygii sf1 33 34
  • 71 (a)
fruit fly
(Drosophila melanogaster)
Insecta SF1 34
  • 34 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y116A8C.32 35
  • 51 (a)
sfa-1 34
  • 33 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSL5 34
  • 35 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6902 34
  • 49 (a)
OneToOne
Species where no ortholog for SF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SF1 Gene

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

Paralogs for SF1 Gene

Paralogs for SF1 Gene

genes like me logo Genes that share paralogs with SF1: view

Variants for SF1 Gene

Sequence variations from dbSNP and Humsavar for SF1 Gene