This gene encodes one of three subunits which combine to form cleavage stimulation factor (CSTF). CSTF is involved in the polyadenylation and 3'end cleavage of pre-mRNAs. Similar to mammalian G protein beta subunits, this protein contains transducin-like repeats. Several transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [pr... See more...

Aliases for CSTF1 Gene

Aliases for CSTF1 Gene

  • Cleavage Stimulation Factor Subunit 1 2 3 4 5
  • Cleavage Stimulation Factor, 3' Pre-RNA, Subunit 1, 50kD 2 3
  • Cleavage Stimulation Factor 50 KDa Subunit 3 4
  • CF-1 50 KDa Subunit 3 4
  • CSTF 50 KDa Subunit 3 4
  • CstF-50 3 4
  • Cleavage Stimulation Factor, 3' Pre-RNA, Subunit 1, 50kDa 3
  • Cleavage Stimulation Factor, 3' Pre-RNA, Subunit 1 2
  • CstFp50 3
  • CSTF1 5

External Ids for CSTF1 Gene

Previous GeneCards Identifiers for CSTF1 Gene

  • GC20P054696
  • GC20P055605
  • GC20P055653
  • GC20P054401
  • GC20P054967
  • GC20P051752

Summaries for CSTF1 Gene

Entrez Gene Summary for CSTF1 Gene

  • This gene encodes one of three subunits which combine to form cleavage stimulation factor (CSTF). CSTF is involved in the polyadenylation and 3'end cleavage of pre-mRNAs. Similar to mammalian G protein beta subunits, this protein contains transducin-like repeats. Several transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for CSTF1 Gene

CSTF1 (Cleavage Stimulation Factor Subunit 1) is a Protein Coding gene. Diseases associated with CSTF1 include Cockayne Syndrome. Among its related pathways are Processing of Capped Intronless Pre-mRNA and Tat-mediated elongation of the HIV-1 transcript. Gene Ontology (GO) annotations related to this gene include RNA binding. An important paralog of this gene is WDR55.

UniProtKB/Swiss-Prot Summary for CSTF1 Gene

  • One of the multiple factors required for polyadenylation and 3'-end cleavage of mammalian pre-mRNAs (PubMed:10669729). May be responsible for the interaction of CSTF with other factors to form a stable complex on the pre-mRNA (PubMed:10669729).

Gene Wiki entry for CSTF1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CSTF1 Gene

Genomics for CSTF1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CSTF1 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 CSTF1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CSTF1

Top Transcription factor binding sites by QIAGEN in the CSTF1 gene promoter:
  • NF-kappaB
  • NF-kappaB1

Genomic Locations for CSTF1 Gene

Latest Assembly
chr20:56,392,371-56,406,362
(GRCh38/hg38)
Size:
13,992 bases
Orientation:
Plus strand

Previous Assembly
chr20:54,967,435-54,981,418
(GRCh37/hg19 by Entrez Gene)
Size:
13,984 bases
Orientation:
Plus strand

chr20:54,967,427-54,979,518
(GRCh37/hg19 by Ensembl)
Size:
12,092 bases
Orientation:
Plus strand

Genomic View for CSTF1 Gene

Genes around CSTF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CSTF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CSTF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CSTF1 Gene

Proteins for CSTF1 Gene

  • Protein details for CSTF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q05048-CSTF1_HUMAN
    Recommended name:
    Cleavage stimulation factor subunit 1
    Protein Accession:
    Q05048
    Secondary Accessions:
    • Q5QPD8

    Protein attributes for CSTF1 Gene

    Size:
    431 amino acids
    Molecular mass:
    48358 Da
    Quaternary structure:
    • Homodimer (PubMed:10669729). The CSTF complex is composed of CSTF1 (50 kDa subunit), CSTF2 (64 kDa subunit) and CSTF3 (77 kDa subunit) (PubMed:10669729). Interacts (via repeats WD) directly with CSTF3 (PubMed:10669729). Interacts (via repeat WD6) with BARD1 (PubMed:10477523). Interacts with ERCC6 (PubMed:26030138).

    Three dimensional structures from OCA and Proteopedia for CSTF1 Gene

neXtProt entry for CSTF1 Gene

Post-translational modifications for CSTF1 Gene

No data available for DME Specific Peptides for CSTF1 Gene

Domains & Families for CSTF1 Gene

Gene Families for CSTF1 Gene

Protein Domains for CSTF1 Gene

Suggested Antigen Peptide Sequences for CSTF1 Gene

GenScript: Design optimal peptide antigens:
  • Cleavage stimulation factor 50 kDa subunit (CSTF1_HUMAN)
  • cDNA, FLJ93190, Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 1,50kDa (CSTF1), mRNA (Q5QPD8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q05048

UniProtKB/Swiss-Prot:

CSTF1_HUMAN :
  • N-terminus mediates homodimerization.
Domain:
  • N-terminus mediates homodimerization.
genes like me logo Genes that share domains with CSTF1: view

Function for CSTF1 Gene

Molecular function for CSTF1 Gene

UniProtKB/Swiss-Prot Function:
One of the multiple factors required for polyadenylation and 3'-end cleavage of mammalian pre-mRNAs (PubMed:10669729). May be responsible for the interaction of CSTF with other factors to form a stable complex on the pre-mRNA (PubMed:10669729).
GENATLAS Biochemistry:
cleavage stimulation factor,subunit 1,component of the 3' pre-RNA polyadenylation, homolog to the G protein beta-subunit

Phenotypes From GWAS Catalog for CSTF1 Gene

Gene Ontology (GO) - Molecular Function for CSTF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0005515 protein binding IEA,IPI 10477523
genes like me logo Genes that share ontologies with CSTF1: view
genes like me logo Genes that share phenotypes with CSTF1: view

miRNA for CSTF1 Gene

miRTarBase miRNAs that target CSTF1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CSTF1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CSTF1 Gene

Localization for CSTF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CSTF1 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 CSTF1 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CSTF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005848 mRNA cleavage stimulating factor complex IBA 21873635
genes like me logo Genes that share ontologies with CSTF1: view

Pathways & Interactions for CSTF1 Gene

genes like me logo Genes that share pathways with CSTF1: view

Pathways by source for CSTF1 Gene

1 KEGG pathway for CSTF1 Gene
1 Qiagen pathway for CSTF1 Gene
  • Epithelial Tight Junctions

Gene Ontology (GO) - Biological Process for CSTF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006369 termination of RNA polymerase II transcription TAS --
GO:0006397 mRNA processing IEA --
GO:0031124 mRNA 3'-end processing TAS --
genes like me logo Genes that share ontologies with CSTF1: view

No data available for SIGNOR curated interactions for CSTF1 Gene

Drugs & Compounds for CSTF1 Gene

No Compound Related Data Available

Transcripts for CSTF1 Gene

mRNA/cDNA for CSTF1 Gene

3 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CSTF1

Alternative Splicing Database (ASD) splice patterns (SP) for CSTF1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c · 3d · 3e · 3f ^ 4a · 4b · 4c · 4d · 4e ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c · 8d · 8e ^ 9a · 9b ·
SP1: - - - - -
SP2: - - - - -
SP3: - - - - - - - - -
SP4: - -
SP5: - - - - - - - - - -
SP6: - - - - - -
SP7: - - -
SP8: - - - -
SP9: - - - - - -
SP10: - - - - - - - - - -
SP11: - - - -
SP12: - -

ExUns: 9c · 9d ^ 10
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for CSTF1 Gene

GeneLoc Exon Structure for
CSTF1

Expression for CSTF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CSTF1 Gene

Protein differential expression in normal tissues from HIPED for CSTF1 Gene

This gene is overexpressed in Breast (34.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CSTF1 Gene



Protein tissue co-expression partners for CSTF1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CSTF1

SOURCE GeneReport for Unigene cluster for CSTF1 Gene:

Hs.172865

Evidence on tissue expression from TISSUES for CSTF1 Gene

  • Nervous system(4.2)
  • Muscle(4.2)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with CSTF1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CSTF1 Gene

Orthologs for CSTF1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CSTF1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CSTF1 29 30
  • 99.3 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CSTF1 30
  • 99 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CSTF1 30
  • 99 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia CSTF1 29 30
  • 91.57 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CSTF1 29 30
  • 89.64 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cstf1 29
  • 87.24 (n)
Mouse
(Mus musculus)
Mammalia Cstf1 29 16 30
  • 87.01 (n)
OneToOne
Chicken
(Gallus gallus)
Aves CSTF1 29 30
  • 80.74 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CSTF1 30
  • 97 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cstf1 29
  • 76.57 (n)
Str.6242 29
African clawed frog
(Xenopus laevis)
Amphibia cstf1-prov 29
Zebrafish
(Danio rerio)
Actinopterygii cstf1 29 30
  • 73.64 (n)
OneToOne
wufc22d10 29
Fruit Fly
(Drosophila melanogaster)
Insecta CstF-50 29 30 31
  • 57.8 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002776 29
  • 56.39 (n)
Worm
(Caenorhabditis elegans)
Secernentea cpf-1 29 30
  • 54.85 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRP4 30
  • 15 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G60940 29
  • 48.41 (n)
Rice
(Oryza sativa)
Liliopsida Os03g0754900 29
  • 50.55 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5452 30
  • 60 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.14049 29
Species where no ortholog for CSTF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • 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)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CSTF1 Gene

ENSEMBL:
Gene Tree for CSTF1 (if available)
TreeFam:
Gene Tree for CSTF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CSTF1: view image
Alliance of Genome Resources:
Additional Orthologs for CSTF1

Paralogs for CSTF1 Gene

Paralogs for CSTF1 Gene

genes like me logo Genes that share paralogs with CSTF1: view

Variants for CSTF1 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CSTF1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CSTF1 Gene

Variant ID Type Subtype PubMed ID
nsv525425 CNV gain 19592680
nsv834013 CNV gain 17160897

Variation tolerance for CSTF1 Gene

Residual Variation Intolerance Score: 11.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.31; 6.93% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CSTF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CSTF1
Leiden Open Variation Database (LOVD)
CSTF1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CSTF1 Gene

Disorders for CSTF1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CSTF1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
cockayne syndrome
  • cockayne's syndrome
- elite association - COSMIC cancer census association via MalaCards
Search CSTF1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CSTF1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CSTF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CSTF1 Gene

Publications for CSTF1 Gene

  1. Complex protein interactions within the human polyadenylation machinery identify a novel component. (PMID: 10669729) Takagaki Y … Manley JL (Molecular and cellular biology 2000) 3 4 22
  2. A human polyadenylation factor is a G protein beta-subunit homologue. (PMID: 1358884) Takagaki Y … Manley JL (The Journal of biological chemistry 1992) 2 3 4
  3. Identification of Novel Proteins Co-Purifying with Cockayne Syndrome Group B (CSB) Reveals Potential Roles for CSB in RNA Metabolism and Chromatin Dynamics. (PMID: 26030138) Nicolai S … Proietti-De-Santis L (PloS one 2015) 3 4
  4. Nuclear deadenylation/polyadenylation factors regulate 3' processing in response to DNA damage. (PMID: 20379136) Cevher MA … Kleiman FE (The EMBO journal 2010) 3 22
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40

Products for CSTF1 Gene

Sources for CSTF1 Gene