P0DPB6 · RPAC2_HUMAN
- ProteinDNA-directed RNA polymerases I and III subunit RPAC2
- GenePOLR1D
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids133 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | RNA polymerase I complex | |
Cellular Component | RNA polymerase III complex | |
Molecular Function | DNA binding | |
Molecular Function | DNA-directed 5'-3' RNA polymerase activity | |
Molecular Function | protein dimerization activity | |
Biological Process | transcription by RNA polymerase III | |
Biological Process | transcription elongation by RNA polymerase I |
Keywords
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameDNA-directed RNA polymerases I and III subunit RPAC2
- Short namesRNA polymerases I and III subunit AC2
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionP0DPB6
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Treacher Collins syndrome 2 (TCS2)
- Note
- DescriptionA form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss.
- See alsoMIM:613717
Natural variants in TCS2
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_064892 | 47 | E>K | in TCS2; dbSNP:rs767196650 | |
VAR_064893 | 50 | T>I | in TCS2 | |
VAR_064894 | 51 | L>R | in TCS2; dbSNP:rs1593275448 | |
VAR_064895 | 52 | G>E | in TCS2 | |
VAR_064896 | 56 | R>C | in TCS2; dbSNP:rs1014369151 | |
VAR_064897 | 82 | L>S | in TCS2 | |
VAR_064898 | 99 | G>S | in TCS2 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_064892 | 47 | in TCS2; dbSNP:rs767196650 | |||
Sequence: E → K | ||||||
Natural variant | VAR_064893 | 50 | in TCS2 | |||
Sequence: T → I | ||||||
Natural variant | VAR_064894 | 51 | in TCS2; dbSNP:rs1593275448 | |||
Sequence: L → R | ||||||
Natural variant | VAR_064895 | 52 | in TCS2 | |||
Sequence: G → E | ||||||
Natural variant | VAR_064896 | 56 | in TCS2; dbSNP:rs1014369151 | |||
Sequence: R → C | ||||||
Natural variant | VAR_064897 | 82 | in TCS2 | |||
Sequence: L → S | ||||||
Natural variant | VAR_064898 | 99 | in TCS2 | |||
Sequence: G → S |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 163 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for modified residue, chain, modified residue (large scale data).
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Modified residue | 1 | UniProt | N-acetylmethionine | ||||
Sequence: M | |||||||
Chain | PRO_0000149316 | 1-133 | UniProt | DNA-directed RNA polymerases I and III subunit RPAC2 | |||
Sequence: MEEDQELERKISGLKTSMAEGERKTALEMVQAAGTDRHCVTFVLHEEDHTLGNSLRYMIMKNPEVEFCGYTTTHPSESKINLRIQTRGTLPAVEPFQRGLNELMNVCQHVLDKFEASIKDYKDQKASRNESTF | |||||||
Modified residue (large scale data) | 12 | PRIDE | Phosphoserine | ||||
Sequence: S |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Interaction
Subunit
Pol I complex consists of a ten-subunit catalytic core composed of POLR1A/RPA1, POLR1B/RPA2, POLR1C/RPAC1, POLR1D/RPAC2, POLR1H/RPA12, POLR2E/RPABC1, POLR2F/RPABC2, POLR2H/RPABC3, POLR2K/RPABC4 and POLR2L/RPABC5; a mobile stalk subunit POLR1F/RPA43 protruding from the core and additional subunits homologous to general transcription factors POLR1E/RPA49 and POLR1G/RPA34. Part of Pol I pre-initiation complex (PIC), in which Pol I core assembles with RRN3 and promoter-bound UTBF and SL1/TIF-IB complex (PubMed:34671025, PubMed:34887565, PubMed:36271492).
Pol III complex consists of a ten-subunit catalytic core composed of POLR3A/RPC1, POLR3B/RPC2, POLR1C/RPAC1, POLR1D/RPAC2, POLR3K/RPC10, POLR2E/RPABC1, POLR2F/RPABC2, POLR2H/RPABC3, POLR2K/RPABC4 and POLR2L/RPABC5; a mobile stalk composed of two subunits POLR3H/RPC8 and CRCP/RPC9, protruding from the core and functioning primarily in transcription initiation; and additional subunits homologous to general transcription factors of the RNA polymerase II machinery, POLR3C/RPC3-POLR3F/RPC6-POLR3G/RPC7 heterotrimer required for transcription initiation and POLR3D/RPC4-POLR3E/RPC5 heterodimer involved in both transcription initiation and termination
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | P0DPB6 | CASP6 P55212 | 3 | EBI-359498, EBI-718729 | |
BINARY | P0DPB6 | GSN P06396 | 3 | EBI-359498, EBI-351506 | |
BINARY | P0DPB6 | LAMP2 P13473-2 | 3 | EBI-359498, EBI-21591415 | |
BINARY | P0DPB6 | POLR1C O15160 | 19 | EBI-359498, EBI-1055079 | |
BINARY | P0DPB6 | Q9Y649 | 3 | EBI-359498, EBI-25900580 | |
BINARY | P0DPB6 | RAN P62826 | 3 | EBI-359498, EBI-286642 | |
BINARY | P0DPB6 | UBQLN1 Q9UMX0 | 3 | EBI-359498, EBI-741480 |
Protein-protein interaction databases
Structure
Sequence & Isoform
- Sequence statusComplete
This entry describes 2 isoforms produced by Alternative splicing.
P0DPB6-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length133
- Mass (Da)15,237
- Last updated2017-11-22 v1
- Checksum715DAEF2B22B1C76
P0DPB5-1
The sequence of this isoform can be found in the external entry linked below. Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
View isoform- Name2
Computationally mapped potential isoform sequences
There are 8 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
A0A0R4J2F3 | A0A0R4J2F3_HUMAN | POLR1D | 116 | ||
A0A8I5QL02 | A0A8I5QL02_HUMAN | POLR1D | 97 | ||
P0DPB5 | RPC22_HUMAN | POLR1D | 122 | ||
A0A1B0GUZ5 | A0A1B0GUZ5_HUMAN | POLR1D | 46 | ||
A0A8I5KX40 | A0A8I5KX40_HUMAN | POLR1D | 34 | ||
A0A087X0U2 | A0A087X0U2_HUMAN | POLR1D | 42 | ||
A0A087WTY1 | A0A087WTY1_HUMAN | POLR1D | 94 | ||
Q7Z776 | Q7Z776_HUMAN | POLR1D | 33 |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF077044 EMBL· GenBank· DDBJ | AAD27777.1 EMBL· GenBank· DDBJ | mRNA | ||
AL136439 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
BC000889 EMBL· GenBank· DDBJ | AAH00889.1 EMBL· GenBank· DDBJ | mRNA |