CTDP1 Gene Summary [Human]
This gene encodes a protein which interacts with the carboxy-terminus of the RAP74 subunit of transcription initiation factor TFIIF, and functions as a phosphatase that processively dephosphorylates the C-terminus of POLR2A (a subunit of RNA polymerase II), making it available for initiation of gene expression. Mutations in this gene are associated with congenital cataracts, facial dysmorphism and neuropathy syndrome (CCFDN). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]
Details
| Type | Protein Coding |
| Official Symbol | CTDP1 |
| Official Name | CTD phosphatase subunit 1 [Source:HGNC Symbol;Acc:HGNC:2498] |
| Ensembl ID | ENSG00000060069 |
| Bio databases IDs | |
| Aliases | CTD phosphatase subunit 1 |
| Synonyms | 4930563P03RIK, CCFDN, CTD phosphatase subunit 1, FCP1, LOC105376875 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CTDP1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- BRCT
- Regulator of Ty1 transposition protein 107 BRCT domain
- transcription factor binding
- protein binding
- Biotinyl_lipoyl_domains
- CTD phosphatase
- binding protein
- FCP1-like phosphatase, phosphatase domain
- protein phosphatase
- BRCA1 C Terminus (BRCT) domain
- FCP1, C-terminal
- phosphatase
- Haloacid Dehalogenase-like Hydrolases
- breast cancer carboxy-terminal domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- insomnia
- global developmental delay with intellectual disability
- congenital cataract with facial dysmorphism and neuropathy
- side effect
- opioid dependence
- Charcot-Marie-Tooth disease
- infection by HIV-1
role in cell
- replication in
- homologous recombination in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- intracellular membrane-bounded organelle
- spindle apparatus
- centrosome
- midbody
- nucleoplasm
- spindle pole
- central spindle
- kinetochores
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CTDP1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation by host of viral transcription
- cell division
- negative regulation of cell growth involved in cardiac muscle cell development
- protein dephosphorylation
- exit from mitosis
- regulation of transcription from RNA polymerase II promoter
- transcription elongation from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- centrosome
- spindle midzone
- cytoplasm
- intracellular membrane-bounded organelle
- spindle
- spindle pole
- macromolecular complex
- midbody
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- phosphoprotein phosphatase activity
- protein binding
- TFIIF-class transcription factor binding
- Tat protein binding
- CTD phosphatase activity
- myosin phosphatase activity