Gene Gene information from NCBI Gene database.
Entrez ID 58190
Gene name CTD small phosphatase 1
Gene symbol CTDSP1
Synonyms (NCBI Gene)
NIF3NLI-IFNLIIFSCP1
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
miRNA miRNA information provided by mirtarbase database.
216
miRTarBase ID miRNA Experiments Reference
MIRT002729 hsa-miR-124-3p Microarray 15685193
MIRT022103 hsa-miR-128-3p Reporter assay 17403776
MIRT002729 hsa-miR-124-3p Microarray 18668037
MIRT002729 hsa-miR-124-3p Reporter assay 17403776
MIRT002729 hsa-miR-124-3p Microarray 15685193
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0004721 Function Phosphoprotein phosphatase activity IEA
GO:0004722 Function Protein serine/threonine phosphatase activity IEA
GO:0005515 Function Protein binding IPI 12721286, 16189514, 16882717, 21653829, 25416956, 27880917, 28514442, 31515488, 32296183, 33961781
GO:0005634 Component Nucleus IDA 12721286
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605323 21614 ENSG00000144579
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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

Accession ID Position in sequence Description Type
PF03031 NIF 91 251 NLI interacting factor-like phosphatase Family
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
Sequence length 261
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Breast Neoplasms Associate 26975371
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Associate 31774910, 37629167
★☆☆☆☆
Found in Text Mining only
Carcinoma Non Small Cell Lung Associate 31774910
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Associate 37629167
★☆☆☆☆
Found in Text Mining only
Leukemia Myeloid Acute Associate 33147338
★☆☆☆☆
Found in Text Mining only
Liposarcoma Associate 31831742
★☆☆☆☆
Found in Text Mining only
Myelodysplastic Syndromes Associate 33147338
★☆☆☆☆
Found in Text Mining only
Neoplasms Inhibit 26975371
★☆☆☆☆
Found in Text Mining only