UniProtKB - Q10570 (CPSF1_HUMAN)
Protein
Cleavage and polyadenylation specificity factor subunit 1
Gene
CPSF1
Organism
Homo sapiens (Human)
Status
Functioni
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. This subunit is involved in the RNA recognition step of the polyadenylation reaction (PubMed:14749727). May play a role in eye morphogenesis and the development of retinal ganglion cell projections to the midbrain (By similarity).By similarity1 Publication
GO - Molecular functioni
- enzyme binding Source: UniProtKB
- mRNA 3'-UTR AU-rich region binding Source: UniProtKB
GO - Biological processi
- mRNA 3'-end processing Source: Reactome
- mRNA export from nucleus Source: Reactome
- mRNA polyadenylation Source: UniProtKB
- mRNA splicing, via spliceosome Source: Reactome
- pre-mRNA cleavage required for polyadenylation Source: UniProtKB
- termination of RNA polymerase II transcription Source: Reactome
- tRNA splicing, via endonucleolytic cleavage and ligation Source: Reactome
Keywordsi
Molecular function | RNA-binding |
Biological process | mRNA processing |
Enzyme and pathway databases
PathwayCommonsi | Q10570 |
Reactomei | R-HSA-159231, Transport of Mature mRNA Derived from an Intronless Transcript R-HSA-6784531, tRNA processing in the nucleus R-HSA-72163, mRNA Splicing - Major Pathway R-HSA-72187, mRNA 3'-end processing R-HSA-73856, RNA Polymerase II Transcription Termination R-HSA-77595, Processing of Intronless Pre-mRNAs |
SIGNORi | Q10570 |
Names & Taxonomyi
Protein namesi | Recommended name: Cleavage and polyadenylation specificity factor subunit 1Alternative name(s): Cleavage and polyadenylation specificity factor 160 kDa subunit Short name: CPSF 160 kDa subunit |
Gene namesi | Name:CPSF1 Synonyms:CPSF160 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000071894.14 |
HGNCi | HGNC:2324, CPSF1 |
MIMi | 606027, gene |
neXtProti | NX_Q10570 |
Subcellular locationi
Nucleus
Nucleus
- mRNA cleavage and polyadenylation specificity factor complex Source: UniProtKB
- nucleoplasm Source: HPA
- nucleus Source: GO_Central
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Myopia 27 (MYP27)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of myopia, a refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. MYP27 patients are affected by early-onset high myopia with increased axial lengths. Fundus changes include optic nerve head crescent and tigroid appearance of the posterior retina.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083935 | 5 – 1443 | Missing in MYP27. 1 PublicationAdd BLAST | 1439 | |
Natural variantiVAR_083936 | 620 – 1443 | Missing in MYP27. 1 PublicationAdd BLAST | 824 | |
Natural variantiVAR_083937 | 1275 | D → Y in MYP27; unknown pathological significance. 1 Publication | 1 |
Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNETi | 29894 |
MalaCardsi | CPSF1 |
MIMi | 618827, phenotype |
PharmGKBi | PA26841 |
Miscellaneous databases
Pharosi | Q10570, Tbio |
Polymorphism and mutation databases
BioMutai | CPSF1 |
DMDMi | 23503048 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000074387 | 1 – 1443 | Cleavage and polyadenylation specificity factor subunit 1Add BLAST | 1443 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 756 | PhosphoserineBy similarity | 1 | |
Modified residuei | 766 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
The N-terminus is blocked.
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q10570 |
jPOSTi | Q10570 |
MassIVEi | Q10570 |
MaxQBi | Q10570 |
PaxDbi | Q10570 |
PeptideAtlasi | Q10570 |
PRIDEi | Q10570 |
ProteomicsDBi | 58860 |
PTM databases
iPTMneti | Q10570 |
PhosphoSitePlusi | Q10570 |
SwissPalmi | Q10570 |
Expressioni
Tissue specificityi
Widely expressed, with high expression in the retina.1 Publication
Gene expression databases
Bgeei | ENSG00000071894, Expressed in right testis and 119 other tissues |
ExpressionAtlasi | Q10570, baseline and differential |
Genevisiblei | Q10570, HS |
Organism-specific databases
HPAi | ENSG00000071894, Low tissue specificity |
Interactioni
Subunit structurei
Component of the cleavage and polyadenylation specificity factor (CPSF) complex, composed of CPSF1, CPSF2, CPSF3, CPSF4 and FIP1L1.
Found in a complex with CPSF1, FIP1L1 and PAPOLA.
Interacts with FIP1L1, TENT2/GLD2 and SRRM1.
Interacts with TUT1; the interaction is direct and mediates the recruitment of the CPSF complex on the 3'UTR of selected pre-mRNAs.
3 PublicationsBinary interactionsi
Hide detailsQ10570
With | #Exp. | IntAct |
---|---|---|
DDIT4L [Q96D03] | 3 | EBI-347859,EBI-742054 |
INCA1 [Q0VD86] | 3 | EBI-347859,EBI-6509505 |
NPM1 [P06748] | 2 | EBI-347859,EBI-78579 |
REL [Q04864] | 3 | EBI-347859,EBI-307352 |
GO - Molecular functioni
- enzyme binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 118946, 121 interactors |
CORUMi | Q10570 |
DIPi | DIP-32694N |
IntActi | Q10570, 42 interactors |
MINTi | Q10570 |
STRINGi | 9606.ENSP00000484669 |
Miscellaneous databases
RNActi | Q10570, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q10570 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 893 – 908 | Nuclear localization signalSequence analysisAdd BLAST | 16 |
Sequence similaritiesi
Belongs to the CPSF1 family.Curated
Phylogenomic databases
eggNOGi | KOG1896, Eukaryota |
GeneTreei | ENSGT00950000183151 |
HOGENOMi | CLU_002414_0_0_1 |
InParanoidi | Q10570 |
OMAi | DLTIYEP |
OrthoDBi | 360328at2759 |
PhylomeDBi | Q10570 |
TreeFami | TF314322 |
Family and domain databases
Gene3Di | 2.130.10.10, 2 hits |
InterProi | View protein in InterPro IPR004871, Cleavage/polyA-sp_fac_asu_C IPR015943, WD40/YVTN_repeat-like_dom_sf |
Pfami | View protein in Pfam PF03178, CPSF_A, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All
Q10570-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MYAVYKQAHP PTGLEFSMYC NFFNNSERNL VVAGTSQLYV YRLNRDAEAL
60 70 80 90 100
TKNDRSTEGK AHREKLELAA SFSFFGNVMS MASVQLAGAK RDALLLSFKD
110 120 130 140 150
AKLSVVEYDP GTHDLKTLSL HYFEEPELRD GFVQNVHTPR VRVDPDGRCA
160 170 180 190 200
AMLVYGTRLV VLPFRRESLA EEHEGLVGEG QRSSFLPSYI IDVRALDEKL
210 220 230 240 250
LNIIDLQFLH GYYEPTLLIL FEPNQTWPGR VAVRQDTCSI VAISLNITQK
260 270 280 290 300
VHPVIWSLTS LPFDCTQALA VPKPIGGVVV FAVNSLLYLN QSVPPYGVAL
310 320 330 340 350
NSLTTGTTAF PLRTQEGVRI TLDCAQATFI SYDKMVISLK GGEIYVLTLI
360 370 380 390 400
TDGMRSVRAF HFDKAAASVL TTSMVTMEPG YLFLGSRLGN SLLLKYTEKL
410 420 430 440 450
QEPPASAVRE AADKEEPPSK KKRVDATAGW SAAGKSVPQD EVDEIEVYGS
460 470 480 490 500
EAQSGTQLAT YSFEVCDSIL NIGPCANAAV GEPAFLSEEF QNSPEPDLEI
510 520 530 540 550
VVCSGHGKNG ALSVLQKSIR PQVVTTFELP GCYDMWTVIA PVRKEEEDNP
560 570 580 590 600
KGEGTEQEPS TTPEADDDGR RHGFLILSRE DSTMILQTGQ EIMELDTSGF
610 620 630 640 650
ATQGPTVFAG NIGDNRYIVQ VSPLGIRLLE GVNQLHFIPV DLGAPIVQCA
660 670 680 690 700
VADPYVVIMS AEGHVTMFLL KSDSYGGRHH RLALHKPPLH HQSKVITLCL
710 720 730 740 750
YRDLSGMFTT ESRLGGARDE LGGRSGPEAE GLGSETSPTV DDEEEMLYGD
760 770 780 790 800
SGSLFSPSKE EARRSSQPPA DRDPAPFRAE PTHWCLLVRE NGTMEIYQLP
810 820 830 840 850
DWRLVFLVKN FPVGQRVLVD SSFGQPTTQG EARREEATRQ GELPLVKEVL
860 870 880 890 900
LVALGSRQSR PYLLVHVDQE LLIYEAFPHD SQLGQGNLKV RFKKVPHNIN
910 920 930 940 950
FREKKPKPSK KKAEGGGAEE GAGARGRVAR FRYFEDIYGY SGVFICGPSP
960 970 980 990 1000
HWLLVTGRGA LRLHPMAIDG PVDSFAPFHN VNCPRGFLYF NRQGELRISV
1010 1020 1030 1040 1050
LPAYLSYDAP WPVRKIPLRC TAHYVAYHVE SKVYAVATST NTPCARIPRM
1060 1070 1080 1090 1100
TGEEKEFETI ERDERYIHPQ QEAFSIQLIS PVSWEAIPNA RIELQEWEHV
1110 1120 1130 1140 1150
TCMKTVSLRS EETVSGLKGY VAAGTCLMQG EEVTCRGRIL IMDVIEVVPE
1160 1170 1180 1190 1200
PGQPLTKNKF KVLYEKEQKG PVTALCHCNG HLVSAIGQKI FLWSLRASEL
1210 1220 1230 1240 1250
TGMAFIDTQL YIHQMISVKN FILAADVMKS ISLLRYQEES KTLSLVSRDA
1260 1270 1280 1290 1300
KPLEVYSVDF MVDNAQLGFL VSDRDRNLMV YMYLPEAKES FGGMRLLRRA
1310 1320 1330 1340 1350
DFHVGAHVNT FWRTPCRGAT EGLSKKSVVW ENKHITWFAT LDGGIGLLLP
1360 1370 1380 1390 1400
MQEKTYRRLL MLQNALTTML PHHAGLNPRA FRMLHVDRRT LQNAVRNVLD
1410 1420 1430 1440
GELLNRYLYL STMERSELAK KIGTTPDIIL DDLLETDRVT AHF
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A087WTV4 | A0A087WTV4_HUMAN | Cleavage and polyadenylation-specif... | CPSF1 | 169 | Annotation score: | ||
A0A087X101 | A0A087X101_HUMAN | Cleavage and polyadenylation-specif... | CPSF1 | 204 | Annotation score: | ||
E9PIM1 | E9PIM1_HUMAN | Cleavage and polyadenylation-specif... | CPSF1 | 148 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 12 | T → P in AAC50293 (PubMed:7590244).Curated | 1 | |
Sequence conflicti | 1318 | Missing in AAC50293 (PubMed:7590244).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083935 | 5 – 1443 | Missing in MYP27. 1 PublicationAdd BLAST | 1439 | |
Natural variantiVAR_083936 | 620 – 1443 | Missing in MYP27. 1 PublicationAdd BLAST | 824 | |
Natural variantiVAR_083937 | 1275 | D → Y in MYP27; unknown pathological significance. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U37012 mRNA Translation: AAC50293.1 BC017232 mRNA Translation: AAH17232.1 |
CCDSi | CCDS34966.1 |
RefSeqi | NP_037423.2, NM_013291.2 |
Genome annotation databases
Ensembli | ENST00000616140; ENSP00000484669; ENSG00000071894 ENST00000620219; ENSP00000478145; ENSG00000071894 ENST00000643746; ENSP00000495102; ENSG00000285049 ENST00000644539; ENSP00000495020; ENSG00000285049 |
GeneIDi | 29894 |
KEGGi | hsa:29894 |
UCSCi | uc003zcj.3, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U37012 mRNA Translation: AAC50293.1 BC017232 mRNA Translation: AAH17232.1 |
CCDSi | CCDS34966.1 |
RefSeqi | NP_037423.2, NM_013291.2 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
6BLY | electron microscopy | 3.36 | A | 1-1443 | [»] | |
6BM0 | electron microscopy | 3.80 | A | 1-1443 | [»] | |
6DNH | electron microscopy | 3.40 | A | 1-1443 | [»] | |
6F9N | X-ray | 2.50 | A | 1-1443 | [»] | |
6FBS | electron microscopy | 3.07 | A | 1-1443 | [»] | |
6FUW | electron microscopy | 3.07 | A | 1-1443 | [»] | |
6URG | electron microscopy | 3.00 | A | 1-1443 | [»] | |
6URO | electron microscopy | 3.60 | A | 1-1443 | [»] | |
SMRi | Q10570 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 118946, 121 interactors |
CORUMi | Q10570 |
DIPi | DIP-32694N |
IntActi | Q10570, 42 interactors |
MINTi | Q10570 |
STRINGi | 9606.ENSP00000484669 |
PTM databases
iPTMneti | Q10570 |
PhosphoSitePlusi | Q10570 |
SwissPalmi | Q10570 |
Polymorphism and mutation databases
BioMutai | CPSF1 |
DMDMi | 23503048 |
Proteomic databases
EPDi | Q10570 |
jPOSTi | Q10570 |
MassIVEi | Q10570 |
MaxQBi | Q10570 |
PaxDbi | Q10570 |
PeptideAtlasi | Q10570 |
PRIDEi | Q10570 |
ProteomicsDBi | 58860 |
Protocols and materials databases
Antibodypediai | 14844, 72 antibodies |
DNASUi | 29894 |
Genome annotation databases
Ensembli | ENST00000616140; ENSP00000484669; ENSG00000071894 ENST00000620219; ENSP00000478145; ENSG00000071894 ENST00000643746; ENSP00000495102; ENSG00000285049 ENST00000644539; ENSP00000495020; ENSG00000285049 |
GeneIDi | 29894 |
KEGGi | hsa:29894 |
UCSCi | uc003zcj.3, human |
Organism-specific databases
CTDi | 29894 |
DisGeNETi | 29894 |
EuPathDBi | HostDB:ENSG00000071894.14 |
GeneCardsi | CPSF1 |
HGNCi | HGNC:2324, CPSF1 |
HPAi | ENSG00000071894, Low tissue specificity |
MalaCardsi | CPSF1 |
MIMi | 606027, gene 618827, phenotype |
neXtProti | NX_Q10570 |
PharmGKBi | PA26841 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1896, Eukaryota |
GeneTreei | ENSGT00950000183151 |
HOGENOMi | CLU_002414_0_0_1 |
InParanoidi | Q10570 |
OMAi | DLTIYEP |
OrthoDBi | 360328at2759 |
PhylomeDBi | Q10570 |
TreeFami | TF314322 |
Enzyme and pathway databases
PathwayCommonsi | Q10570 |
Reactomei | R-HSA-159231, Transport of Mature mRNA Derived from an Intronless Transcript R-HSA-6784531, tRNA processing in the nucleus R-HSA-72163, mRNA Splicing - Major Pathway R-HSA-72187, mRNA 3'-end processing R-HSA-73856, RNA Polymerase II Transcription Termination R-HSA-77595, Processing of Intronless Pre-mRNAs |
SIGNORi | Q10570 |
Miscellaneous databases
BioGRID-ORCSi | 29894, 613 hits in 848 CRISPR screens |
ChiTaRSi | CPSF1, human |
GeneWikii | CPSF1 |
GenomeRNAii | 29894 |
Pharosi | Q10570, Tbio |
PROi | PR:Q10570 |
RNActi | Q10570, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000071894, Expressed in right testis and 119 other tissues |
ExpressionAtlasi | Q10570, baseline and differential |
Genevisiblei | Q10570, HS |
Family and domain databases
Gene3Di | 2.130.10.10, 2 hits |
InterProi | View protein in InterPro IPR004871, Cleavage/polyA-sp_fac_asu_C IPR015943, WD40/YVTN_repeat-like_dom_sf |
Pfami | View protein in Pfam PF03178, CPSF_A, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CPSF1_HUMAN | |
Accessioni | Q10570Primary (citable) accession number: Q10570 Secondary accession number(s): Q96AF0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 1, 1996 |
Last sequence update: | September 19, 2002 | |
Last modified: | December 2, 2020 | |
This is version 182 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 8
Human chromosome 8: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations