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

    Gene ID: 1477, updated on 10-Dec-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
    mouse all
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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

    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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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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)

    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
      UniProtKB/TrEMBL
      B4DDG3
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q05048.1 GenPept UniProtKB/Swiss-Prot:Q05048

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