CPSF1
Cleavage and polyadenylation specificity factor subunit 1
Also known as: CPSF1_HUMAN, CPSF160
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q10570
- Gene
- CPSF1
- Ensembl
- ENSG00000071894
- Chromosome
- 8
- Canonical length
- 1443 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
Cleavage and polyadenylation specificity factor (CPSF) is a multisubunit complex that plays a central role in 3-prime processing of pre-mRNAs. CPSF recognizes the AAUAAA signal in the pre-mRNA and interacts with other proteins to facilitate both RNA cleavage and poly(A) synthesis. CPSF1 is the largest subunit of the CPSF complex (Murthy and Manley, 1995 [PubMed 7590244]).[supplied by OMIM, Mar 2008]
Canonical amino-acid sequenceUniProt
1443 residues, UniProt reviewed canonical sequence.
>Q10570|CPSF1
1 MYAVYKQAHP PTGLEFSMYC NFFNNSERNL VVAGTSQLYV YRLNRDAEAL TKNDRSTEGK
61 AHREKLELAA SFSFFGNVMS MASVQLAGAK RDALLLSFKD AKLSVVEYDP GTHDLKTLSL
121 HYFEEPELRD GFVQNVHTPR VRVDPDGRCA AMLVYGTRLV VLPFRRESLA EEHEGLVGEG
181 QRSSFLPSYI IDVRALDEKL LNIIDLQFLH GYYEPTLLIL FEPNQTWPGR VAVRQDTCSI
241 VAISLNITQK VHPVIWSLTS LPFDCTQALA VPKPIGGVVV FAVNSLLYLN QSVPPYGVAL
301 NSLTTGTTAF PLRTQEGVRI TLDCAQATFI SYDKMVISLK GGEIYVLTLI TDGMRSVRAF
361 HFDKAAASVL TTSMVTMEPG YLFLGSRLGN SLLLKYTEKL QEPPASAVRE AADKEEPPSK
421 KKRVDATAGW SAAGKSVPQD EVDEIEVYGS EAQSGTQLAT YSFEVCDSIL NIGPCANAAV
481 GEPAFLSEEF QNSPEPDLEI VVCSGHGKNG ALSVLQKSIR PQVVTTFELP GCYDMWTVIA
541 PVRKEEEDNP KGEGTEQEPS TTPEADDDGR RHGFLILSRE DSTMILQTGQ EIMELDTSGF
601 ATQGPTVFAG NIGDNRYIVQ VSPLGIRLLE GVNQLHFIPV DLGAPIVQCA VADPYVVIMS
661 AEGHVTMFLL KSDSYGGRHH RLALHKPPLH HQSKVITLCL YRDLSGMFTT ESRLGGARDE
721 LGGRSGPEAE GLGSETSPTV DDEEEMLYGD SGSLFSPSKE EARRSSQPPA DRDPAPFRAE
781 PTHWCLLVRE NGTMEIYQLP DWRLVFLVKN FPVGQRVLVD SSFGQPTTQG EARREEATRQ
841 GELPLVKEVL LVALGSRQSR PYLLVHVDQE LLIYEAFPHD SQLGQGNLKV RFKKVPHNIN
901 FREKKPKPSK KKAEGGGAEE GAGARGRVAR FRYFEDIYGY SGVFICGPSP HWLLVTGRGA
961 LRLHPMAIDG PVDSFAPFHN VNCPRGFLYF NRQGELRISV LPAYLSYDAP WPVRKIPLRC
1021 TAHYVAYHVE SKVYAVATST NTPCARIPRM TGEEKEFETI ERDERYIHPQ QEAFSIQLIS
1081 PVSWEAIPNA RIELQEWEHV TCMKTVSLRS EETVSGLKGY VAAGTCLMQG EEVTCRGRIL
1141 IMDVIEVVPE PGQPLTKNKF KVLYEKEQKG PVTALCHCNG HLVSAIGQKI FLWSLRASEL
1201 TGMAFIDTQL YIHQMISVKN FILAADVMKS ISLLRYQEES KTLSLVSRDA KPLEVYSVDF
1261 MVDNAQLGFL VSDRDRNLMV YMYLPEAKES FGGMRLLRRA DFHVGAHVNT FWRTPCRGAT
1321 EGLSKKSVVW ENKHITWFAT LDGGIGLLLP MQEKTYRRLL MLQNALTTML PHHAGLNPRA
1381 FRMLHVDRRT LQNAVRNVLD GELLNRYLYL STMERSELAK KIGTTPDIIL DDLLETDRVT
1441 AHFLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CPSF1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.29
- Highest tissue expression
- 128 nTPM
Expression across tissuesHPA
Tissue
- testis: 128 nTPM
- pancreas: 86 nTPM
- pituitary gland: 78 nTPM
- liver: 75 nTPM
- cerebellum: 69 nTPM
- spleen: 68 nTPM
Single-cell type
- sertoli cells: 66 nCPM
- late spermatids: 54 nCPM
- early primary spermatocytes: 31 nCPM
- enteric transient amplifying cells: 30 nCPM
- foveolar cells: 28 nCPM
- differentiating spermatogonia: 25 nCPM
Immune cell
- T-reg: 6.8 nTPM
- non-classical monocyte: 6.2 nTPM
- intermediate monocyte: 6.1 nTPM
- myeloid DC: 5.7 nTPM
- memory CD4 T-cell: 5.2 nTPM
- classical monocyte: 5.1 nTPM
Brain region
- cerebral cortex: 20 nTPM
- pons: 17 nTPM
- medulla oblongata: 16 nTPM
- basal ganglia: 16 nTPM
- choroid plexus: 15 nTPM
- amygdala: 15 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CPSF1.
Disease | AllUniProt
Conditions CPSF1 is implicated in, by any mechanism.
- Myopia 27, autosomal dominant (MYP27) MIM:618827
Disease | GeneticClinVar
8 pathogenic / likely-pathogenic of 318 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Myopia 27
Disease | ImmuneIEDB
Conditions an epitope on CPSF1 was assayed in.
- melanoma T cell
- skin melanoma T cell
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.54
- gnomAD pLI
- 0
- gnomAD missense Z
- 2.8
- DepMap mean gene effect
- -1.18
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 15% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- mRNA processing
- co-transcriptional RNA 3'-end processing, cleavage and polyadenylation pathway
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CPSF1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CPSF1 as an antibody target. Whether an autoantibody or antibody against CPSF1 could matter depends on whether native CPSF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CPSF1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label CPSF1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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