SF1 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
SF1
Official Name
splicing factor 1 [Source:HGNC Symbol;Acc:HGNC:12950]
Ensembl ID
ENSG00000168066
Bio databases IDs NCBI: 7536 Ensembl: ENSG00000168066
Aliases splicing factor 1
Synonyms AC127556.1, BBP, D11S636, MBBP, MZFM, splicing factor 1, WBP4, ZCCHC25, ZFM1, ZFP162, ZNF162
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SF1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Zinc knuckle
  • zinc finger
  • transcription regulator
  • Splicing factor 1 helix-hairpin domain
  • K homology (KH) RNA-binding domain, type I
  • KH domain
  • transcription co-repressor
  • proline glycine methionine motif
  • protein binding
  • K homology RNA-binding domain
  • identical protein binding
  • RNA binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • prostate cancer
  • myasthenia gravis
  • neurodevelopmental disorder
  • paroxysmal nocturnal hemoglobinuria
  • germ cell neoplasia
regulated by
  • TNF
  • tretinoin
  • U2AF2
  • Major late
  • GnRH analog
  • CD3 (complex)
  • Egr-1 decoy ODN
  • P-TEFb
  • IL15
  • SFPQ
role in cell
  • expression in
  • migration
  • growth
  • organization
  • proliferation

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • nuclear fraction
  • Cytoplasm
  • spliceosomes
  • nucleoplasm
  • nuclear bodies
  • interchromatin granule clusters

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human SF1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • male sex determination
  • negative regulation of transcription, DNA-dependent
  • regulation of nuclear mRNA splicing, via spliceosome
  • negative regulation of smooth muscle cell proliferation
  • regulation of steroid biosynthetic process
  • Leydig cell differentiation
  • nuclear body organization
  • nuclear mRNA 3'-splice site recognition
  • spliceosomal complex assembly
  • nuclear mRNA splicing, via spliceosome

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • nuclear body
  • spliceosomal complex
  • ribosome
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • identical protein binding
  • zinc ion binding
  • protein binding
  • RNA binding
  • transcription corepressor activity
  • mRNA binding

Gene-Specific Assays for Results You Can Trust

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