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Aliases for SF1 Gene

Aliases for SF1 Gene

  • Splicing Factor 1 2 3
  • Zinc Finger Protein 162 2 3 4
  • ZNF162 3 4 6
  • ZFM1 3 4 6
  • Mammalian Branch Point-Binding Protein 3 4
  • Zinc Finger Gene In MEN1 Locus 3 4
  • Transcription Factor ZFM1 3 4
  • D11S636 3 6
  • MBBP 3 4
  • BBP 3 4
  • ZCCHC25 3

External Ids for SF1 Gene

Previous Symbols for SF1 Gene

  • ZNF162

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 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. Among its related pathways are Oct4 in Mammalian ESC Pluripotency. GO annotations related to this gene include RNA binding and transcription corepressor activity. An important paralog of this gene is KHDRBS1.

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

Genomic Location for SF1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SF1 Gene

Regulatory Elements 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

Proteomics data for SF1 Gene at MOPED

Post-translational modifications for SF1 Gene

  • Phosphorylation on Ser-20 interferes with U2AF2 binding and spliceosome assembly. Isoform 6 is phosphorylated on Ser-463.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys227 and Lys454

No data available for DME Specific Peptides for SF1 Gene

Domains for SF1 Gene

Gene Families for SF1 Gene

HGNC:
  • ZCCHC :Zinc fingers, CCHC domain containing

Protein Domains for SF1 Gene

UniProtKB/Swiss-Prot:

SF01_HUMAN
Domain:
  • Contains 1 KH domain.:
    • Q15637
Family:
  • Belongs to the BBP/SF1 family.:
    • Q15637
Similarity:
  • Contains 1 CCHC-type zinc finger.:
    • Q15637
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 --
GO:0003714 transcription corepressor activity TAS 9660765
GO:0003723 RNA binding TAS 8752089
GO:0005515 protein binding IPI 25416956
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

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
genes like me logo Genes that share ontologies with SF1: view

Pathways for SF1 Gene

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

Pathways by source for SF1 Gene

1 Qiagen pathway for SF1 Gene

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 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

Compounds for SF1 Gene

(4) Novoseek inferred chemical compound relationships for SF1 Gene

Compound -log(P) Hits PubMed IDs
zinc 23.6 5
glutamine 14.1 2
atp 0 2
serine 0 2
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:

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 for SF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SF1 Gene

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 expressions with SF1: view

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 36
  • 99.69 (n)
  • 100 (a)
SF1 37
  • 84 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SF1 37
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SF1 36
  • 95.51 (n)
  • 100 (a)
SF1 37
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sf1 16
Sf1 37
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SF1 37
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SF1 37
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SF1 37
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.5953 36
zebrafish
(Danio rerio)
Actinopterygii sf1 36
sf1 37
  • 71 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta SF1 37
  • 34 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea sfa-1 37
  • 33 (a)
OneToOne
Y116A8C.32 38
  • 51 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSL5 37
  • 35 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6902 37
  • 49 (a)
OneToOne
Species with no ortholog for SF1:
  • 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 MAF
rs474707 -- 64,776,663(+) AAATA(C/T)AAGTA intron-variant
rs484886 -- 64,769,394(+) TCTGC(C/T)AGGAG intron-variant
rs487105 -- 64,779,419(+) TCAGA(A/G)GATTT upstream-variant-2KB
rs523200 -- 64,765,107(+) AACAT(A/C)TTTGG utr-variant-3-prime, nc-transcript-variant
rs523964 -- 64,775,429(-) ATTCC(A/G)TTGTG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv897694 CNV Loss 21882294
nsv818842 CNV Gain 17921354
nsv528506 CNV Loss 19592680
dgv1171n71 CNV Loss 21882294
dgv1172n71 CNV Loss 21882294
dgv153n27 CNV Loss 19166990
nsv832189 CNV Loss 17160897
nsv469962 CNV Loss 18288195
nsv897702 CNV Loss 21882294
dgv225n67 CNV Gain 20364138
nsv897703 CNV Loss 21882294

Relevant External Links for SF1 Gene

HapMap Linkage Disequilibrium report
SF1

Disorders for SF1 Gene

(1) Novoseek inferred disease relationships for SF1 Gene

Disease -log(P) Hits PubMed IDs
multiple endocrine neoplasia type 1 63.6 2

Relevant External Links for SF1

Genetic Association Database (GAD)
SF1
genes like me logo Genes that share disorders with SF1: view

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

Publications for SF1 Gene

  1. 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 23
  2. 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 23
  3. Mammalian splicing factor SF1 is encoded by variant cDNAs and binds to RNA. (PMID: 8752089) Arning S. … Kraemer A. (RNA 1996) 3 4 23
  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 23
  5. Structural basis for recognition of the intron branch site RNA by splicing factor 1. (PMID: 11691992) Liu Z. … Sattler M. (Science 2001) 3 4 23

Products for SF1 Gene

Sources for SF1 Gene

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