Human Gene CSTF1 (uc002xxl.1)
  Description: Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa (CSTF1), transcript variant 1, mRNA.
RefSeq Summary (NM_001033521): 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].
Transcript (Including UTRs)
   Position: hg19 chr20:54,967,427-54,979,582 Size: 12,156 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr20:54,970,609-54,978,783 Size: 8,175 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:54,967,427-54,979,582)mRNA (may differ from genome)Protein (431 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCLynxMGIneXtProtOMIM
PubMedReactomeTreefamUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CSTF1_HUMAN
DESCRIPTION: RecName: Full=Cleavage stimulation factor subunit 1; AltName: Full=CF-1 50 kDa subunit; AltName: Full=Cleavage stimulation factor 50 kDa subunit; Short=CSTF 50 kDa subunit; Short=CstF-50;
FUNCTION: One of the multiple factors required for polyadenylation and 3'-end cleavage of mammalian pre-mRNAs. May be responsible for the interaction of CSTF with other factors to form a stable complex on the pre-mRNA.
SUBUNIT: Homodimer. The CSTF complex is composed of CSTF1 (50 kDa subunit), CSTF2 (64 kDa subunit) and CSTF3 (77 kDa subunit). Interacts directly with CSTF3. Interacts with BARD1.
INTERACTION: Q99728:BARD1; NbExp=4; IntAct=EBI-1789619, EBI-473181; Q9H0E2:TOLLIP; NbExp=2; IntAct=EBI-1789619, EBI-74615;
SUBCELLULAR LOCATION: Nucleus.
DOMAIN: The WD6 domain is required for interaction with BARD1. WD domains are responsible for interaction with CSTF3.
DOMAIN: N-terminus mediates homodimerization.
PTM: The N-terminus is blocked.
SIMILARITY: Contains 6 WD repeats.
SEQUENCE CAUTION: Sequence=CAC12718.2; Type=Erroneous gene model prediction;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CSTF1
CDC HuGE Published Literature: CSTF1
Positive Disease Associations: Cholesterol, HDL
Related Studies:
  1. Cholesterol, HDL
    , , . [PubMed 0]

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 17.99 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 381.43 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -64.60200-0.323 Picture PostScript Text
3' UTR -200.10799-0.250 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR015943 - WD40/YVTN_repeat-like_dom
IPR001680 - WD40_repeat
IPR019775 - WD40_repeat_CS
IPR017986 - WD40_repeat_dom

Pfam Domains:
PF00400 - WD domain, G-beta repeat
PF16699 - Cleavage stimulation factor subunit 1, dimerisation domain

SCOP Domains:
50952 - Soluble quinoprotein glucose dehydrogenase
50960 - TolB, C-terminal domain
63825 - YWTD domain
63829 - Calcium-dependent phosphotriesterase
69304 - Tricorn protease N-terminal domain
101898 - NHL repeat
50965 - Galactose oxidase, central domain
75011 - 3-carboxy-cis,cis-mucoante lactonizing enzyme
101908 - Putative isomerase YbhE
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
50974 - Nitrous oxide reductase, N-terminal domain
50978 - WD40 repeat-like
50993 - Prolyl oligopeptidase, N-terminal domain
69322 - Tricorn protease domain 2
50998 - Quinoprotein alcohol dehydrogenase-like
51004 - C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase
82171 - Dipeptidyl peptidase IV/CD26, N-terminal domain

ModBase Predicted Comparative 3D Structure on Q05048
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0005515 protein binding

Biological Process:
GO:0000398 mRNA splicing, via spliceosome
GO:0006369 termination of RNA polymerase II transcription
GO:0006397 mRNA processing
GO:0031124 mRNA 3'-end processing

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm


-  Descriptions from all associated GenBank mRNAs
  AK307144 - Homo sapiens cDNA, FLJ97092.
L02547 - Homo sapiens (clone pZ50-19) cleavage stimulation factor 50kDa subunit, complete cds.
AK312774 - Homo sapiens cDNA, FLJ93190, Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 1,50kDa (CSTF1), mRNA.
AK293182 - Homo sapiens cDNA FLJ51688 complete cds, highly similar to Cleavage stimulation factor 50 kDa subunit.
BC001011 - Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa, mRNA (cDNA clone MGC:8697 IMAGE:2964685), complete cds.
BC007425 - Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa, mRNA (cDNA clone MGC:3631 IMAGE:2964685), complete cds.
JD424166 - Sequence 405190 from Patent EP1572962.
DQ892707 - Synthetic construct clone IMAGE:100005337; FLH188986.01X; RZPDo839A0574D cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa (CSTF1) gene, encodes complete protein.
DQ892717 - Synthetic construct Homo sapiens clone IMAGE:100005347; FLH263573.01X; RZPDo839B0474D cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa (CSTF1) gene, encodes complete protein.
DQ895959 - Synthetic construct Homo sapiens clone IMAGE:100010419; FLH188982.01L; RZPDo839A0564D cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa (CSTF1) gene, encodes complete protein.
BT007138 - Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa mRNA, complete cds.
JD133286 - Sequence 114310 from Patent EP1572962.
JD304246 - Sequence 285270 from Patent EP1572962.
JD261796 - Sequence 242820 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_cpsfPathway - Polyadenylation of mRNA

Reactome (by CSHL, EBI, and GO)

Protein Q05048 (Reactome details) participates in the following event(s):

R-HSA-72231 Cleavage and Polyadenylation
R-HSA-77590 Recruitment of CstF to the CPSF Bound Pre-mRNA
R-HSA-72180 Cleavage of mRNA at the 3'-end
R-HSA-77592 Cleavage of Intronless Pre-mRNA at 3'-end
R-HSA-77593 Cleavage and polyadenylation of Intronless Pre-mRNA
R-HSA-72130 Formation of an intermediate Spliceosomal C (Bact) complex
R-HSA-77591 Binding of Cleavage factors and Poly(A)Polymerase to the CstF:CPSF:Pre-mRNA Complex
R-HSA-72143 Lariat Formation and 5'-Splice Site Cleavage
R-HSA-72139 Formation of the active Spliceosomal C (B*) complex
R-HSA-8849157 TREX complex binds spliced, capped mRNA:CBC:EJC cotranscriptionally
R-HSA-156661 Formation of Exon Junction Complex
R-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-77595 Processing of Intronless Pre-mRNAs
R-HSA-72187 mRNA 3'-end processing
R-HSA-109688 Cleavage of Growing Transcript in the Termination Region
R-HSA-72172 mRNA Splicing
R-HSA-75067 Processing of Capped Intronless Pre-mRNA
R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA
R-HSA-73856 RNA Polymerase II Transcription Termination
R-HSA-8953854 Metabolism of RNA
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: CSTF1_HUMAN, NM_001033521, NP_001315, Q05048, Q5QPD8
UCSC ID: uc002xxl.1
RefSeq Accession: NM_001033521
Protein: Q05048 (aka CSTF1_HUMAN or CST1_HUMAN)
CCDS: CCDS13452.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001033521.1
exon count: 6CDS single in 3' UTR: no RNA size: 2295
ORF size: 1296CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2532.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.