CPSF3 - cleavage and polyadenylation specific factor 3 Gene

Homo sapiens

Also known as CPSF73; NEDMHS; CPSF-73; NEDMHSN

Gene ID: 51692 | Gene type: protein coding

About CPSF3

Cytogenetic location: 2p25.1 Genomic coordinates (GRCh38): 2:9,423,654-9,473,101 (from NCBI)

This gene has 5 transcripts (splice variants), 245 orthologues, 3 paralogues and is associated with 1 phenotype. Broad expression in testis (RPKM 20.7), lymph node (RPKM 8.6) and 24 other tissues.

Summary

This gene encodes a member of the metallo-beta-lactamase family. The encoded protein is a 73kDa subunit of the cleavage and polyadenylation specificity factor and functions as an Endonuclease that recognizes the pre-mRNA 3'-cleavage site AAUAAA prior to polyadenylation. It also cleaves after the pre-mRNA sequence ACCCA during histone 3'-end pre-mRNA processing. [provided by RefSeq, Oct 2012]

CPSF3 Products(5)

mRNA	Protein	Name
NM_001321833.2	NP_001308762.1	cleavage and polyadenylation specificity factor subunit 3 isoform b
NM_001321834.2	NP_001308763.1	cleavage and polyadenylation specificity factor subunit 3 isoform b
NM_001321835.2	NP_001308764.1	cleavage and polyadenylation specificity factor subunit 3 isoform c
NM_001321836.2	NP_001308765.1	cleavage and polyadenylation specificity factor subunit 3 isoform d
NM_016207.4	NP_057291.1	cleavage and polyadenylation specificity factor subunit 3 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables RNA endonuclease activity	IMP IMP: Inferred from mutant phenotype	30507380	GOA
enables metal ion binding	IMP IMP: Inferred from mutant phenotype	30507380	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	18288197	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in co-transcriptional mRNA 3'-end processing, cleavage and polyadenylation pathway	IDA IDA: Inferred from direct assay	8929409	GOA
involved in mRNA 3'-end processing	IMP IMP: Inferred from mutant phenotype	30507380	GOA
involved in mRNA 3'-end processing by stem-loop binding and cleavage	IDA IDA: Inferred from direct assay	18688255	GOA
involved in positive regulation of G1/S transition of mitotic cell cycle	IMP IMP: Inferred from mutant phenotype	30507380	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of mRNA cleavage and polyadenylation specificity factor complex	IDA IDA: Inferred from direct assay	8929409	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CPSF3 Protein Structure

Lactamase_B

Beta-Casp

RMMBL

CPSF73-100_C

0
200
400
600
684 a.a.

Protein Preferred Names

Protein Names

cleavage and polyadenylation specificity factor subunit 3

cleavage and polyadenylation specific factor 3, 73kDa

Related Diseases

Diseases

Alias

Neurodevelopmental Disorder With Microcephaly, Hypotonia, Nystagmus, And Seizures

NEDMHS

Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures

NEDHYMS

Oculopharyngeal Muscular Dystrophy

OPMD	Muscular Dystrophy, Oculopharyngeal
Dystrophy, Oculopharyngeal Muscular	Oculopharyngeal Dystrophy
Progressive Muscular Dystrophy, Oculopharyngeal Type	Muscular Dystrophy Oculopharyngeal
Dystrophy, Muscular, Oculopharyngeal

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-110133	JTE-607	Inhibitor	99.27%	Phase 2

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03118	CPSF3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-110133A	JTE-607 free base	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	CPSF3	VGNC	VGNC:61141
Rattus norvegicus	CPSF3	RGD	RGD:1305767
Macaca mulatta	CPSF3	VGNC	VGNC:106142
Mus musculus	CPSF3	MGD	MGI:1859328
Bos taurus	CPSF3	VGNC	VGNC:27672
Canis familiaris	CPSF3	VGNC	VGNC:39575

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