UniProt functional annotation for O75909



	UniProt functional annotation for O75909

UniProt code: O75909.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: Regulatory subunit of cyclin-dependent kinases that mediates activation of target kinases. Plays a role in transcriptional regulation via its role in regulating the phosphorylation of the C- terminal domain (CTD) of the large subunit of RNA polymerase II (POLR2A). {ECO:0000269|PubMed:10574912, ECO:0000269|PubMed:22012619, ECO:0000269|PubMed:9632813}.

Subunit: Regulatory subunit of cyclin-dependent kinases. Identified in a complex with a kinase and the RNA polymerase II holoenzyme. Interacts with POLR2A. Interacts with CDK12 and CDK13. Interacts with CDK9 according to PubMed:10574912; does not interact with CDK9 according to PubMed:22012619. {ECO:0000269|PubMed:10574912, ECO:0000269|PubMed:22012619, ECO:0000269|PubMed:24662513, ECO:0000269|PubMed:9632813}.

Subcellular location: Nucleus {ECO:0000269|PubMed:22012619}.

Tissue specificity: Widely expressed. Highest levels in testis. {ECO:0000269|PubMed:9632813}.

Disease: Intellectual developmental disorder with hypertelorism and distinctive facies (IDDHDF) [MIM:618147]: An autosomal dominant neurodevelopmental disorder characterized by developmental delay and intellectual disability, language defects, and distinctive facial dysmorphism including high hairline, hypertelorism, thin eyebrows, dysmorphic ears, broad nasal bridge and tip, and narrow jaw. {ECO:0000269|PubMed:30122539}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the cyclin family. Cyclin C subfamily. {ECO:0000305}.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		Regulatory subunit of cyclin-dependent kinases that mediates activation of target kinases. Plays a role in transcriptional regulation via its role in regulating the phosphorylation of the C- terminal domain (CTD) of the large subunit of RNA polymerase II (POLR2A). {ECO:0000269\|PubMed:10574912, ECO:0000269\|PubMed:22012619, ECO:0000269\|PubMed:9632813}.


Subunit:		Regulatory subunit of cyclin-dependent kinases. Identified in a complex with a kinase and the RNA polymerase II holoenzyme. Interacts with POLR2A. Interacts with CDK12 and CDK13. Interacts with CDK9 according to PubMed:10574912; does not interact with CDK9 according to PubMed:22012619. {ECO:0000269\|PubMed:10574912, ECO:0000269\|PubMed:22012619, ECO:0000269\|PubMed:24662513, ECO:0000269\|PubMed:9632813}.
Subcellular location:		Nucleus {ECO:0000269\|PubMed:22012619}.
Tissue specificity:		Widely expressed. Highest levels in testis. {ECO:0000269\|PubMed:9632813}.
Disease:		Intellectual developmental disorder with hypertelorism and distinctive facies (IDDHDF) [MIM:618147]: An autosomal dominant neurodevelopmental disorder characterized by developmental delay and intellectual disability, language defects, and distinctive facial dysmorphism including high hairline, hypertelorism, thin eyebrows, dysmorphic ears, broad nasal bridge and tip, and narrow jaw. {ECO:0000269\|PubMed:30122539}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the cyclin family. Cyclin C subfamily. {ECO:0000305}.