CSTF3 cleavage stimulation factor subunit 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CSTF3provided by HGNC
Official Full Name: cleavage stimulation factor subunit 3provided by HGNC
Primary source: HGNC:HGNC:2485
See related: Ensembl:ENSG00000176102 MIM:600367; AllianceGenome:HGNC:2485
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-77
Summary: The protein encoded by this gene is one of three (including CSTF1 and CSTF2) cleavage stimulation factors that combine to form the cleavage stimulation factor complex (CSTF). This complex is involved in the polyadenylation and 3' end cleavage of pre-mRNAs. The encoded protein functions as a homodimer and interacts directly with both CSTF1 and CSTF2 in the CSTF complex. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in testis (RPKM 12.9), lymph node (RPKM 7.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p13

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (33084584..33161480, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (33220126..33297015, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (33106130..33183026, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Data show that the recruitment of CstF subunit CstF-50 to CstF via interaction with cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa protein (CstF-77) and establish that the hexameric assembly of CstF.
Title: Reconstitution of the CstF complex unveils a regulatory role for CstF-50 in recognition of 3'-end processing signals.
Reverse genetics and nuclear magnetic resonance studies of recombinant CstF-64 (RRM-Hinge) and CstF-77 (monkeytail-carboxy-terminal domain) indicate that the last 30 amino acids of CstF-77 increases the stability of the RRM, thus altering the affinity of the complex for RNA. These results provide new insights into the mechanism by which CstF regulates the location of the RNA cleavage site during Cleavage/polyadenylation.
Title: The structural basis of CstF-77 modulation of cleavage and polyadenylation through stimulation of CstF-64 activity.
Results from a study on gene variability markers in early-stage human embryos shows that CSTF3 is a putative variability marker for the 3-day, 8-cell embryo stage.
Title: Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development.
Thus, the conserved intronic pA of the CstF-77 gene may function as a sensor for cellular C/P and splicing activities, controlling the homeostasis of CstF-77 and C/P activity and impacting cell proliferation and differentiation.
Title: The conserved intronic cleavage and polyadenylation site of CstF-77 gene imparts control of 3' end processing activity through feedback autoregulation and by U1 snRNP.
nuclear accumulation of CstF-64 depends on binding to CstF-77 not symplekin; interaction between CstF-64/CstF-64Tau and CstF-77 are important for maintenance of nuclear levels of CstF complex components and intracellular localization, stability, function
Title: Interactions of CstF-64, CstF-77, and symplekin: implications on localisation and function.
The Hinge domain is necessary for CstF-64 interaction with CstF-77 and consequent nuclear localization.
Title: The hinge domain of the cleavage stimulation factor protein CstF-64 is essential for CstF-77 interaction, nuclear localization, and polyadenylation.
chimeric human CstF-77/Drosophila suppressor of forked proteins rescue suppressor of forked mutant lethality and mrna 3' end processing in Drosophila
Title: Chimeric human CstF-77/Drosophila Suppressor of forked proteins rescue suppressor of forked mutant lethality and mRNA 3' end processing in Drosophila.

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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

EBI GWAS Catalog

Description
Genome-wide association study of proneness to anger. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Rev	rev	HIV-1 Rev interacting protein, cleavage stimulation factor, subunit 3 (CSTF3), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with CSTF3 is increased by RRE	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S3403 (e-PCR)
- UniSTS:152644

HSCZRG082 (e-PCR)
- UniSTS:3189

STS-N32907 (e-PCR)
- UniSTS:82045

RH48382 (e-PCR)
- UniSTS:18650

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables mRNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in RNA 3'-end processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in co-transcriptional mRNA 3'-end processing, cleavage and polyadenylation pathway	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of mRNA cleavage stimulating factor complex	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: cleavage stimulation factor subunit 3

Names: CF-1 77 kDa subunit; CSTF 77 kDa subunit; cleavage stimulation factor 77 kDa subunit; cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD; cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa

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)

NM_001033505.2 → NP_001028677.1 cleavage stimulation factor subunit 3 isoform 2

See identical proteins and their annotated locations for NP_001028677.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 5' coding region, compared to variant 1. The encoded protein (isoform 2) is shorter and has a unique C-terminus, compared to isoform 1.

Source sequence(s)

BC009792, BG435786

Consensus CDS

CCDS44563.1

UniProtKB/Swiss-Prot

Q12996

Related

ENSP00000388711.2, ENST00000438862.6

Conserved Domains (1) summary

smart00386
Location:45 → 75

HAT; HAT (Half-A-TPR) repeats
NM_001033506.2 → NP_001028678.1 cleavage stimulation factor subunit 3 isoform 3

See identical proteins and their annotated locations for NP_001028678.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice site in the 5' coding region, compared to variant 1. The encoded protein (isoform 3) is shorter and has a unique C-terminus, compared to isoform 1.

Source sequence(s)

BC009792, BG435786

Consensus CDS

CCDS44564.1

UniProtKB/Swiss-Prot

Q12996

Related

ENSP00000393064.2, ENST00000431742.2
NM_001326.3 → NP_001317.1 cleavage stimulation factor subunit 3 isoform 1

See identical proteins and their annotated locations for NP_001317.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

BC010533, BG435786, U15782

Consensus CDS

CCDS7883.1

UniProtKB/Swiss-Prot

A8K471, D3DR04, E9PB40, Q12996, Q32P22, Q96FQ8, Q96QD6, Q96QK4

UniProtKB/TrEMBL

B4DMA4

Related

ENSP00000315791.4, ENST00000323959.9

Conserved Domains (3) summary

COG5107
Location:14 → 515

RNA14; Pre-mRNA 3'-end processing (cleavage and polyadenylation) factor [RNA processing and modification]

sd00006
Location:31 → 60

TPR; TPR repeat [structural motif]

pfam05843
Location:375 → 649

Suf; Suppressor of forked protein (Suf)