CPSF3
entrez
51692
canonical
uniprot
Q9UKF6
canonical
ensembl
ENSG00000119203
resolver
ensp
ENSP00000238112
resolver
ensp
ENSP00000418957
resolver
enst
ENST00000238112
resolver
enst
ENST00000460593
resolver
genesymbol
CPSF3
resolver
genesymbol_syn
CPSF73
resolver
hgnc
HGNC:2326
resolver
uniprot
G5E9W3
resolver
uniprot
O14769
resolver
uniprot
Q53RS2
resolver
uniprot
Q96F36
resolver
uniprot_entry
CPSF3_HUMAN
resolver
uniprot_entry
G5E9W3_HUMAN
resolver
uniprot_sec
O14769
resolver
uniprot_sec
Q53RS2
resolver
uniprot_sec
Q96F36
resolver
amino_acid_sequence
MSAIPAEESDQLLIRPLGAGQEVGRSCIILEFKGRKIMLDCGIHPGLEGMDALPYIDLIDPAEIDLLLISHFHLDHCGALPWFLQKTSFKGRTFMTHATKAIYRWLLSDYVKVSNISADDMLYTETDLEESMDKIETINFHEVKEVAGIKFWCYHAGHVLGAAMFMIEIAGVKLLYTGDFSRQEDRHLMAAEIPNIKPDILIIESTYGTHIHEKREEREARFCNTVHDIVNRGGRGLIPVFALGRAQELLLILDEYWQNHPELHDIPIYYASSLAKKCMAVYQTYVNAMNDKIRKQININNPFVFKHISNLKSMDHFDDIGPSVVMASPGMMQSGLSRELFESWCTDKRNGVIIAGYCVEGTLAKHIMSEPEEITTMSGQKLPLKMSVDYISFSAHTDYQQTSEFIRALKPPHVILVHGEQNEMARLKAALIREYEDNDEVHIEVHNPRNTEAVTLNFRGEKLAKVMGFLADKKPEQGQRVSGILVKRNFNYHILSPCDLSNYTDLAMSTVKQTQAIPYTGPFNLLCYQLQKLTGDVEELEIQEKPALKVFKNITVIQEPGMVVLEWLANPSNDMYADTVTTVILEVQSNPKIRKGAVQKVSKKLEMHVYSKRLEIMLQDIFGEDCVSVKDDSILSVTVDGKTANLNLETRTVECEEGSEDDESLREMVELAAQRLYEALTPVH
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures (NEDMHS) [MIM:619876]: An autosomal recessive disorder characterized by global developmental delay and impaired intellectual development apparent from infancy. Affected individuals have hypotonia, poor or absent motor skills, feeding difficulties with poor overall growth, microcephaly, mild dysmorphic features, and early-onset seizures. Additional variable features include nystagmus, cortical blindness, and spasticity. {ECO:0000269|PubMed:35121750}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.27.-
uniprot
proteins
function
FUNCTION: Component of the cleavage and polyadenylation specificity factor (CPSF) complex that plays a key role in pre-mRNA 3'-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and other factors to bring about cleavage and poly(A) addition. Has endonuclease activity, and functions as an mRNA 3'-end-processing endonuclease (PubMed:30507380). Also involved in the histone 3'-end pre-mRNA processing (PubMed:30507380). U7 snRNP-dependent protein that induces both the 3'-endoribonucleolytic cleavage of histone pre-mRNAs and acts as a 5' to 3' exonuclease for degrading the subsequent downstream cleavage product (DCP) of mature histone mRNAs. Cleavage occurs after the 5'-ACCCA-3' sequence in the histone pre-mRNA leaving a 3'hydroxyl group on the upstream fragment containing the stem loop (SL) and 5' phosphate on the downstream cleavage product (DCP) starting with CU nucleotides. The U7-dependent 5' to 3' exonuclease activity is processive and degrades the DCP RNA substrate even after complete removal of the U7-binding site. Binds to the downstream cleavage product (DCP) of histone pre-mRNAs and the cleaved DCP RNA substrate in a U7 snRNP dependent manner. Required for entering/progressing through S-phase of the cell cycle (PubMed:30507380). Required for the selective processing of microRNAs (miRNAs) during embryonic stem cell differentiation via its interaction with ISY1 (By similarity). Required for the biogenesis of all miRNAs from the pri-miR-17-92 primary transcript except miR-92a (By similarity). Only required for the biogenesis of miR-290 and miR-96 from the pri-miR-290-295 and pri-miR-96-183 primary transcripts, respectively (By similarity). {ECO:0000250|UniProtKB:Q9QXK7, ECO:0000269|PubMed:14749727, ECO:0000269|PubMed:15037765, ECO:0000269|PubMed:17128255, ECO:0000269|PubMed:18688255, ECO:0000269|PubMed:30507380}.
uniprot
proteins
mass_dalton
77486
uniprot
proteins
mutagenesis
MUTAGEN 73; /note="H->A: Inhibits histone 3'-end processing."; /evidence="ECO:0000269|PubMed:18688255"; MUTAGEN 75..76; /note="DH->KA: Loss of histone 3'-end processing."; /evidence="ECO:0000269|PubMed:17128255"; MUTAGEN 75; /note="D->A: Inhibits histone 3'-end processing."; /evidence="ECO:0000269|PubMed:18688255"; MUTAGEN 76; /note="H->A: Inhibits histone 3'-end processing."; /evidence="ECO:0000269|PubMed:18688255"; MUTAGEN 334; /note="S->A: Does not inhibit histone 3'-end processing."; /evidence="ECO:0000269|PubMed:18688255"; MUTAGEN 396; /note="H->A: Inhibits histone 3'-end processing."; /evidence="ECO:0000269|PubMed:18688255"; MUTAGEN 462; /note="K->R: Reduced sumoylation; when associated with R-465 and R-545."; /evidence="ECO:0000269|PubMed:17923699"; MUTAGEN 465; /note="K->R: Reduced sumoylation; when associated with R-462 and R-545."; /evidence="ECO:0000269|PubMed:17923699"; MUTAGEN 545; /note="K->R: Reduced sumoylation; when associated with R-462 and R-465."; /evidence="ECO:0000269|PubMed:17923699
uniprot
proteins
post_translational_modification
PTM: Sumoylated on Lys-462, Lys-465 and Lys-545, preferentially by SUMO3. {ECO:0000269|PubMed:17923699}.
uniprot
proteins
protein_family
CPSF3 subfamily
uniprot
proteins
protein_family
Metallo-beta-lactamase superfamily
uniprot
proteins
protein_family
RNA-metabolizing metallo-beta-lactamase-like family
uniprot
proteins
pubmed
14749727
uniprot
proteins
pubmed
15037765
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17128255
uniprot
proteins
pubmed
17923699
uniprot
proteins
pubmed
18688255
uniprot
proteins
pubmed
19217410
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21102410
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
30507380
uniprot
proteins
pubmed
35121750
uniprot
proteins
sequence_length
684
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15037765}.
uniprot
proteins