CTDSPL

CTD Small Phosphatase Like

Gene Information Card

Symbol CTDSPL
Full Name CTD Small Phosphatase Like
Gene Type protein-coding
Chromosomal Location 3p21.3
NCBI Gene ID 10217 ncbi.nlm.nih.gov/gene/10217
Ensembl ID ENSG00000144677
UniProt ID Q15194
OMIM ID 608592
HGNC ID 16886
Aliases SCP3, HYA22, C3orf8

Description

CTDSPL (CTD Small Phosphatase Like) encodes a member of the small CTD phosphatase family. The protein dephosphorylates the C-terminal domain of RNA polymerase II, regulating transcription. It is located on chromosome 3p21.3, a region frequently deleted in cancers, suggesting a tumor suppressor role.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Lung Cancer Loss of heterozygosity at 3p21.3 may reduce CTDSPL expression, contributing to tumorigenesis. NCBI Gene, OMIM
Renal Cell Carcinoma Decreased expression observed; potential tumor suppressor. NCBI Gene

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 12.5 Medium
Brain 8.2 Low
Lung 6.1 Low
Kidney 5.4 Low
Cell Line Expression
Cell Line nTPM Notes
HEK 293 10.3 Embryonic kidney
HeLa 7.8 Cervical cancer
A549 5.2 Lung cancer
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1A>G Missense <0.1% Unknown significance
c.200C>T Nonsense <0.1% Predicted loss of function
Mutation functional classification

Loss of Function (LOF)

Nonsense mutations may lead to truncated protein and loss of phosphatase activity.

Gain of Function (GOF)

Not reported.

Dominant Negative (DN)

Not reported.

Gene Ontology (GO)

• phosphoprotein phosphatase activity • RNA polymerase II CTD heptapeptide repeat phosphatase activity
• nucleus • cytoplasm
• regulation of transcription by RNA polymerase II

Pathways

RNA polymerase II transcription termination

Protein Summary

CTDSPL is a 261-amino acid protein with a molecular weight of ~29 kDa. It contains a haloacid dehalogenase (HAD)-like domain and specifically dephosphorylates Ser5 of the RNA polymerase II CTD. It is localized in the nucleus and cytoplasm.

Related Products

Product name Cat.No. Species Gene ID
CTDSPL Knockout HEK293 Cell Line EDJ-KQ6959 Human 10217 Details Get a Quote
CTDSPL2 Knockout HEK293 Cell Line EDJ-KQ11113 Human 51496 Details Get a Quote
CTDSPL2 Knockout A-549 Cell Line EDJ-KQ39087 Human 51496 Details Get a Quote
CTDSPL2 Knockout HCT 116 Cell Line EDJ-KQ39088 Human 51496 Details Get a Quote
CTDSPL2 Knockout HeLa Cell Line EDJ-KQ39089 Human 51496 Details Get a Quote
CTDSPL Knockout A-549 Cell Line EDJ-KQ31634 Human 10217 Details Get a Quote
CTDSPL Knockout HCT 116 Cell Line EDJ-KQ31635 Human 10217 Details Get a Quote
CTDSPL Knockout HeLa Cell Line EDJ-KQ31636 Human 10217 Details Get a Quote
Displaying Records 1 To 8 Of 8 Records
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