CDC40
Pre-mRNA-processing factor 17
Also known as: EHB3, FLJ10564, PRP17, PRP17_HUMAN, PRPF17
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O60508
- Gene
- CDC40
- Ensembl
- ENSG00000168438
- Chromosome
- 6
- Canonical length
- 579 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
Pre-mRNA splicing occurs in two sequential transesterification steps. The protein encoded by this gene is found to be essential for the catalytic step II in pre-mRNA splicing process. It is found in the spliceosome, and contains seven WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp17 protein, which functions in two different cellular processes: pre-mRNA splicing and cell cycle progression. It suggests that this protein may play a role in cell cycle progression. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
579 residues, UniProt reviewed canonical sequence.
>O60508|CDC40
1 MSAAIAALAA SYGSGSGSES DSDSESSRCP LPAADSLMHL TKSPSSKPSL AVAVDSAPEV
61 AVKEDLETGV HLDPAVKEVQ YNPTYETMFA PEFGPENPFR TQQMAAPRNM LSGYAEPAHI
121 NDFMFEQQRR TFATYGYALD PSLDNHQVSA KYIGSVEEAE KNQGLTVFET GQKKTEKRKK
181 FKENDASNID GFLGPWAKYV DEKDVAKPSE EEQKELDEIT AKRQKKGKQE EEKPGEEKTI
241 LHVKEMYDYQ GRSYLHIPQD VGVNLRSTMP PEKCYLPKKQ IHVWSGHTKG VSAVRLFPLS
301 GHLLLSCSMD CKIKLWEVYG ERRCLRTFIG HSKAVRDICF NTAGTQFLSA AYDRYLKLWD
361 TETGQCISRF TNRKVPYCVK FNPDEDKQNL FVAGMSDKKI VQWDIRSGEI VQEYDRHLGA
421 VNTIVFVDEN RRFVSTSDDK SLRVWEWDIP VDFKYIAEPS MHSMPAVTLS PNGKWLACQS
481 MDNQILIFGA QNRFRLNKKK IFKGHMVAGY ACQVDFSPDM SYVISGDGNG KLNIWDWKTT
541 KLYSRFKAHD KVCIGAVWHP HETSKVITCG WDGLIKLWDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CDC40 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)
- 0.35
- Highest tissue expression
- 36 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 36 nTPM
- lymph node: 18 nTPM
- tonsil: 17 nTPM
- thymus: 17 nTPM
- liver: 16 nTPM
- kidney: 15 nTPM
Single-cell type
- early spermatids: 368 nCPM
- cardiomyocytes: 316 nCPM
- epicardial cells: 175 nCPM
- late primary spermatocytes: 135 nCPM
- late spermatids: 131 nCPM
- b-cells: 101 nCPM
Immune cell
- memory B-cell: 30 nTPM
- basophil: 29 nTPM
- naive B-cell: 28 nTPM
- plasmacytoid DC: 25 nTPM
- non-classical monocyte: 24 nTPM
- neutrophil: 21 nTPM
Brain region
- basal ganglia: 24 nTPM
- hippocampal formation: 23 nTPM
- cerebral cortex: 22 nTPM
- white matter: 21 nTPM
- choroid plexus: 17 nTPM
- amygdala: 16 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CDC40.
Disease | AllUniProt
Conditions CDC40 is implicated in, by any mechanism.
- Pontocerebellar hypoplasia 15 (PCH15) MIM:619302
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 60 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Pontocerebellar hypoplasia, type 15
- Congenital pontocerebellar hypoplasia
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)
- 0.31
- gnomAD pLI
- 0.98
- gnomAD missense Z
- 2.67
- DepMap mean gene effect
- -0.94
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CDC40 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 CDC40 as an antibody target. Whether an autoantibody or antibody against CDC40 could matter depends on whether native CDC40 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CDC40 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 CDC40 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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