Free for academic non-profit institutions. Other users need a Commercial license

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 1. Among its related pathways are mRNA Splicing - Major Pathway and Oct4 in Mammalian ESC Pluripotency. 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

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

Genomics for SF1 Gene

Regulatory Elements for SF1 Gene

Enhancers for SF1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11F064884 1.2 FANTOM5 ENCODE 7.2 -107.0 -106957 1.7 HDGF ARNT MLX ARID4B DMAP1 ZNF2 ZNF143 FOS DEK ZNF263 ATG2A EHD1 SF1 CDC42BPG TIGD3 RASGRP2 MAP4K2 PYGM RPS16P6
GH11F065414 1.4 FANTOM5 ENCODE 5.9 -645.3 -645338 18.8 CREB3L1 MLX ZFP64 YBX1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 NEAT1 ZFPL1 KAT5 EIF1AD LOC105369352 POLA2 MUS81 PCNX3 FRMD8 ENSG00000255320
GH11F065377 1.4 FANTOM5 Ensembl ENCODE 5.2 -603.6 -603638 10.3 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 KAT5 NEAT1 LOC105369353 LOC728975 KLC2 SSSCA1-AS1 SNX15 ENSG00000269038 SF1 CD248
GH11F064846 1.6 FANTOM5 Ensembl ENCODE 3.8 -81.4 -81428 27.0 HDGF PKNOX1 CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 YBX1 YY1 EHD1 NEAT1 KAT5 MAP4K2 SNX15 MIR192 MEN1 SSSCA1-AS1 EHBP1L1 FAU
GH11F064447 1 FANTOM5 ENCODE 1.3 +330.1 330063 2.1 ATF1 CBX3 PKNOX1 ZNF48 RAD21 GLIS2 SCRT2 ZNF143 RCOR1 ETV6 LOC105369342 ENSG00000231492 RPS16P6 ENSG00000203520 SAC3D1 NRXN2 SLC22A12 FERMT3 TRMT112 EHD1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SF1 on UCSC Golden Path with GeneCards custom track

Promoters for SF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001570795 544 3001 HDGF PKNOX1 CREB3L1 ARID4B SIN3A ZNF2 YY1 FOS SP3 NFYC

Genomic Location for SF1 Gene

Chromosome:
11
Start:
64,764,604 bp from pter
End:
64,778,844 bp from pter
Size:
14,241 bases
Orientation:
Minus strand

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 Lys 227 and Lys 454
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SF1 Gene

Domains & Families for SF1 Gene

Gene Families for SF1 Gene

Protein Domains for SF1 Gene

Graphical View of Domain Structure for InterPro Entry

Q15637

UniProtKB/Swiss-Prot:

SF01_HUMAN :
  • Contains 1 KH domain.
  • Belongs to the BBP/SF1 family.
  • Contains 1 CCHC-type zinc finger.
Domain:
  • Contains 1 KH domain.
Family:
  • Belongs to the BBP/SF1 family.
Similarity:
  • Contains 1 CCHC-type zinc finger.
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.

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 IEA,TAS 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

Animal Model Products

Flow Cytometry 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
Jensen Localization Image for SF1 Gene COMPARTMENTS Subcellular localization image for SF1 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for SF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus NAS 7912130
GO:0005654 nucleoplasm IDA --
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 IEA,IC 9731529
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:

Flow Cytometry 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 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.
genes like me logo Genes that share expression patterns with SF1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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 34 35
  • 99.69 (n)
dog
(Canis familiaris)
Mammalia SF1 34 35
  • 95.51 (n)
oppossum
(Monodelphis domestica)
Mammalia SF1 35
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SF1 35
  • 89 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SF1 35
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sf1 35
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SF1 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.5953 34
zebrafish
(Danio rerio)
Actinopterygii sf1 34 35
  • 71 (a)
fruit fly
(Drosophila melanogaster)
Insecta SF1 35
  • 34 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y116A8C.32 36
  • 51 (a)
sfa-1 35
  • 33 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSL5 35
  • 35 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6902 35
  • 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

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs10570870 -- 64,779,385(+) CAAAT(-/ACAC)ACTTC upstream-variant-2KB
rs1059419 -- 64,765,323(-) ttttt(C/T)ttttt nc-transcript-variant, utr-variant-3-prime
rs1059505 -- 64,764,849(-) GTTTT(G/T)TTTTA nc-transcript-variant, utr-variant-3-prime
rs111548804 -- 64,770,224(+) GTGTC(C/T)TCATC intron-variant
rs111552365 -- 64,769,269(+) CTCCC(A/G)AAGCT nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for SF1 Gene

Variant ID Type Subtype PubMed ID
dgv153n27 CNV loss 19166990
dgv1965n54 CNV loss 21841781
dgv1967n54 CNV loss 21841781
dgv225n67 CNV gain 20364138
nsv1136130 CNV deletion 24896259
nsv469962 CNV loss 18288195
nsv528506 CNV loss 19592680
nsv818842 CNV gain 17921354
nsv832189 CNV loss 17160897
nsv951013 CNV deletion 24416366

Variation tolerance for SF1 Gene

Residual Variation Intolerance Score: 12.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.71; 14.99% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SF1 Gene

Disorders for SF1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SF1 Gene - From: DISEASES and Novoseek

Disorder Aliases PubMed IDs
multiple endocrine neoplasia 1
  • multiple endocrine neoplasia, type i
- elite association - COSMIC cancer census association via MalaCards
Search SF1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SF1

Genetic Association Database (GAD)
SF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SF1
genes like me logo Genes that share disorders with SF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SF1 Gene

Publications for SF1 Gene

  1. Diverse modes of alternative splicing of human splicing factor SF1 deduced from the exon-intron structure of the gene. (PMID: 9573336) Kraemer A. … Mulhauser F. (Gene 1998) 2 3 4 22 64
  2. Isolation and characterization of a novel gene encoding nuclear protein at a locus (D11S636) tightly linked to multiple endocrine neoplasia type 1 (MEN1). (PMID: 7912130) Toda T. … Imai T. (Hum. Mol. Genet. 1994) 2 3 4 22 64
  3. Structural basis for recognition of the intron branch site RNA by splicing factor 1. (PMID: 11691992) Liu Z. … Sattler M. (Science 2001) 3 4 22 64
  4. The transcriptional repressor ZFM1 interacts with and modulates the ability of EWS to activate transcription. (PMID: 9660765) Zhang D. … Childs G. (J. Biol. Chem. 1998) 3 4 22 64
  5. Mammalian splicing factor SF1 is encoded by variant cDNAs and binds to RNA. (PMID: 8752089) Arning S. … Kraemer A. (RNA 1996) 3 4 22 64

Products for SF1 Gene

Sources for SF1 Gene

Content
Loading form....