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CSTF1 cleavage stimulation factor subunit 1 [ Homo sapiens (human) ]

Gene ID: 1477, updated on 2-Nov-2024

Summary

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Official Symbol
CSTF1provided by HGNC
Official Full Name
cleavage stimulation factor subunit 1provided by HGNC
Primary source
HGNC:HGNC:2483
See related
Ensembl:ENSG00000101138 MIM:600369; AllianceGenome:HGNC:2483
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CstF-50; CstFp50
Summary
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]
Expression
Ubiquitous expression in testis (RPKM 12.7), lymph node (RPKM 8.5) and 25 other tissues See more
Orthologs
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Genomic context

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See CSTF1 in Genome Data Viewer
Location:
20q13.2-q13.31
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (56392379..56406362)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (58169873..58183854)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (54967435..54981418)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13057 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:54937273-54937462 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:54938029-54938529 Neighboring gene family with sequence similarity 210 member B Neighboring gene aurora kinase A Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr20:54961142-54962341 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18142 Neighboring gene Cas scaffold protein family member 4 Neighboring gene ribosomal protein L39 pseudogene Neighboring gene small nucleolar RNA U13 Neighboring gene replication termination factor 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. A truncated splice variant of human BARD1 that lacks the RING finger and ankyrin repeats. Tsuzuki M, et al. Cancer Lett, 2006 Feb 20. PMID 15878232
  2. Structural basis to stabilize the domain motion of BARD1-ARD BRCT by CstF50. Choudhary RK, et al. Sci Rep, 2017 Jun 20. PMID 28634376, Free PMC Article
  3. The BARD1 C-terminal domain structure and interactions with polyadenylation factor CstF-50. Edwards RA, et al. Biochemistry, 2008 Nov 4. PMID 18842000, Free PMC Article
  4. A human polyadenylation factor is a G protein beta-subunit homologue. Takagaki Y, et al. J Biol Chem, 1992 Nov 25. PMID 1358884
  5. The BARD1-CstF-50 interaction links mRNA 3' end formation to DNA damage and tumor suppression. Kleiman FE, et al. Cell, 2001 Mar 9. PMID 11257228

See all (91) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  2. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.
  3. characterize the BARD1 structural biochemistry responsible for CstF-50 binding
    Title: The BARD1 C-terminal domain structure and interactions with polyadenylation factor CstF-50.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic susceptibility to distinct bladder cancer subphenotypes.
  5. A deletion variant of BARD1, a BRCA1 partner, occurs in cells and interacts with and colocalizes with CstF-50.
    Title: A truncated splice variant of human BARD1 that lacks the RING finger and ankyrin repeats.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in mRNA 3'-end processing IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of mRNA cleavage stimulating factor complex IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
cleavage stimulation factor subunit 1
Names
CF-1 50 kDa subunit
CSTF 50 kDa subunit
cleavage stimulation factor 50 kDa subunit
cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kD
cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001033521.2 → NP_001028693.1  cleavage stimulation factor subunit 1

    See identical proteins and their annotated locations for NP_001028693.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) has a 5' UTR that is further upstream than the other variants. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AL121914, BE958524, BU189431, BU934383, L02547
    Consensus CDS
    CCDS13452.1
    UniProtKB/Swiss-Prot
    Q05048, Q5QPD8
    UniProtKB/TrEMBL
    B4DDG3
    Conserved Domains (3) summary
    cd00200
    Location:100 → 424
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    sd00039
    Location:116 → 171
    7WD40; WD40 repeat [structural motif]
    pfam16699
    Location:8 → 59
    CSTF1_dimer; Cleavage stimulation factor subunit 1, dimerization domain

  2. NM_001033522.2 → NP_001028694.1  cleavage stimulation factor subunit 1

    See identical proteins and their annotated locations for NP_001028694.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AL121914, BE958524, BU189431, CF272312, L02547
    Consensus CDS
    CCDS13452.1
    UniProtKB/Swiss-Prot
    Q05048, Q5QPD8
    UniProtKB/TrEMBL
    B4DDG3
    Conserved Domains (3) summary
    cd00200
    Location:100 → 424
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    sd00039
    Location:116 → 171
    7WD40; WD40 repeat [structural motif]
    pfam16699
    Location:8 → 59
    CSTF1_dimer; Cleavage stimulation factor subunit 1, dimerization domain

  3. NM_001324.3 → NP_001315.1  cleavage stimulation factor subunit 1

    See identical proteins and their annotated locations for NP_001315.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AL121914, BE958524, BU189431, BU189971, L02547
    Consensus CDS
    CCDS13452.1
    UniProtKB/Swiss-Prot
    Q05048, Q5QPD8
    UniProtKB/TrEMBL
    B4DDG3
    Related
    ENSP00000217109.4, ENST00000217109.9
    Conserved Domains (3) summary
    cd00200
    Location:100 → 424
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    sd00039
    Location:116 → 171
    7WD40; WD40 repeat [structural motif]
    pfam16699
    Location:8 → 59
    CSTF1_dimer; Cleavage stimulation factor subunit 1, dimerization domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    56392379..56406362
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011528600.2 → XP_011526902.1  cleavage stimulation factor subunit 1 isoform X1

    See identical proteins and their annotated locations for XP_011526902.1

    UniProtKB/Swiss-Prot
    Q05048, Q5QPD8
    UniProtKB/TrEMBL
    B4DDG3
    Conserved Domains (3) summary
    cd00200
    Location:100 → 424
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    sd00039
    Location:116 → 171
    7WD40; WD40 repeat [structural motif]
    pfam16699
    Location:8 → 59
    CSTF1_dimer; Cleavage stimulation factor subunit 1, dimerization domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    58169873..58183854
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054323070.1 → XP_054179045.1  cleavage stimulation factor subunit 1 isoform X1

    UniProtKB/Swiss-Prot
    Q05048, Q5QPD8
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q05048.1 GenPept UniProtKB/Swiss-Prot:Q05048

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