CTDSP1 (CTD small phosphatase 1)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 58190 |
| Gene name | CTD small phosphatase 1 |
| Gene symbol | CTDSP1 |
| Synonyms (NCBI Gene) |
NIF3NLI-IFNLIIFSCP1
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| Chromosome | 2 |
| Chromosome location | 2q35 |
| Summary | This gene encodes a member of the small C-terminal domain phosphatase (SCP) family of nuclear phosphatases. These proteins play a role in transcriptional regulation through specific dephosphorylation of phosphoserine 5 within tandem heptapeptide repeats o |
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miRNA
miRNA information provided by mirtarbase database.
216
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q9GZU7 | ||||||||||
| Protein name | Carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 1 (EC 3.1.3.16) (Nuclear LIM interactor-interacting factor 3) (NLI-IF) (NLI-interacting factor 3) (Small C-terminal domain phosphatase 1) (SCP1) (Small CTD phosphatase 1) | ||||||||||
| Protein function | Preferentially catalyzes the dephosphorylation of 'Ser-5' within the tandem 7 residue repeats in the C-terminal domain (CTD) of the largest RNA polymerase II subunit POLR2A. Negatively regulates RNA polymerase II transcription, possibly by contr | ||||||||||
| PDB | 1T9Z , 1TA0 , 2GHQ , 2GHT , 3L0B , 3L0C , 3L0Y , 3PGL , 4YGY , 4YH1 , 6DU3 | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Expression is restricted to non-neuronal tissues. Highest expression in skeletal muscle, spleen, lung and placenta. {ECO:0000269|PubMed:15681389}. | ||||||||||
| Sequence |
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| Sequence length | 261 | ||||||||||
| Interactions | View interactions | ||||||||||
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
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