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 protei... See more...

Aliases for SF1 Gene

Aliases for SF1 Gene

  • Splicing Factor 1 2 3 4 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 Summary 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 , Rfam classification and piRNA Summary for SF1 Gene

Genomics for SF1 Gene

GeneHancer (GH) Regulatory Elements for SF1 Gene

Promoters and enhancers for SF1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SF1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SF1 gene promoter:
  • AREB6
  • GATA-1
  • Ik-2
  • NF-1
  • NF-kappaB1
  • RFX1
  • Sox9

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)
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 Lys227
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for SF1 Gene

Domains & Families for SF1 Gene

Gene Families for SF1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for SF1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ54064, highly similar to Splicing factor 1 (B4DX42_HUMAN)
  • ZFM1 protein, alternatively spliced product (Q14820_HUMAN)
  • Zinc finger protein 162 (SF01_HUMAN)

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 10449420
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

CRISPR Products

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,IBA 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

PathCards logo

SuperPathways 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
  • Oct4 in Mammalian ESC Pluripotency

SIGNOR curated interactions for SF1 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated 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,TAS --
GO:0006397 mRNA processing IEA --
GO:0008380 RNA splicing IEA --
genes like me logo Genes that share ontologies with SF1: view

Drugs & Compounds for SF1 Gene

(5) Drugs for SF1 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dihydroartemisinin Experimental, Investigational Pharma Target, ligand 108
genes like me logo Genes that share compounds with SF1: view

Transcripts for SF1 Gene

CRISPR Products

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, 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