Human Gene RPRD1B (ENST00000373433.9_4) from GENCODE V47lift37
  Description: regulation of nuclear pre-mRNA domain containing 1B (from RefSeq NM_021215.4)
Gencode Transcript: ENST00000373433.9_4
Gencode Gene: ENSG00000101413.12_7
Transcript (Including UTRs)
   Position: hg19 chr20:36,662,148-36,720,766 Size: 58,619 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr20:36,662,350-36,718,277 Size: 55,928 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:36,662,148-36,720,766)mRNA (may differ from genome)Protein (326 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
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UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RPR1B_HUMAN
DESCRIPTION: RecName: Full=Regulation of nuclear pre-mRNA domain-containing protein 1B; AltName: Full=Cell cycle-related and expression-elevated protein in tumor;
FUNCTION: Interacts with phosphorylated C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II subunit POLR2A, and participates in dephosphorylation of the CTD. Transcriptional regulator which enhances expression of CCND1. Promotes binding of RNA polymerase II to the CCDN1 promoter and to the termination region before the poly-A site but decreases its binding after the poly-A site. Prevents RNA polymerase II from reading through the 3' end termination site and may allow it to be recruited back to the promoter through promotion of the formation of a chromatin loop. Also enhances the transcription of a number of other cell cycle-related genes including CDK2, CDK4, CDK6 and cyclin-E but not CDKN1A, CDKN1B or cyclin-A. Promotes cell proliferation.
SUBUNIT: Associates with the RNA polymerase II complex.
INTERACTION: P24928:POLR2A; NbExp=5; IntAct=EBI-747925, EBI-295301;
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Preferentially expressed in a range of tumor tissues including colon, lung, liver, breast, prostate, stomach, uterine endometrium and cervical cancers with higher levels in tumors than in adjacent non-tumor tissue (at protein level).
SIMILARITY: Belongs to the UPF0400 (RTT103) family.
SIMILARITY: Contains 1 CID domain.
SEQUENCE CAUTION: Sequence=AAH01696.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: RPRD1B
Diseases sorted by gene-association score: retroperitoneal leiomyosarcoma (11)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.87 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 460.09 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -89.60202-0.444 Picture PostScript Text
3' UTR -735.502489-0.296 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008942 - ENTH_VHS
IPR006903 - RNA_pol_II-bd
IPR006569 - RNA_polymerase_II_lsu_CTD

Pfam Domains:
PF04818 - CID domain
PF16566 - Cell-cycle alteration and expression-elevated protein in tumour

SCOP Domains:
48464 - ENTH/VHS domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
4FLA - X-ray MuPIT 4FU3 - X-ray MuPIT 4HFG - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9NQG5
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserGenome Browser
Gene DetailsGene Details  Gene DetailsGene Details
Gene SorterGene Sorter  Gene SorterGene Sorter
 RGDEnsembl WormBaseSGD
    Protein SequenceProtein Sequence
    AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000993 RNA polymerase II core binding
GO:0005515 protein binding
GO:0042802 identical protein binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0008284 positive regulation of cell proliferation
GO:0010564 regulation of cell cycle process
GO:0042795 snRNA transcription from RNA polymerase II promoter
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0070940 dephosphorylation of RNA polymerase II C-terminal domain

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005813 centrosome
GO:0005829 cytosol
GO:0016591 DNA-directed RNA polymerase II, holoenzyme


-  Descriptions from all associated GenBank mRNAs
  DQ372938 - Homo sapiens cell-cycle related and expression-elevated protein in tumor (CREPT) mRNA, complete cds.
BC033629 - Homo sapiens regulation of nuclear pre-mRNA domain containing 1B, mRNA (cDNA clone MGC:45008 IMAGE:5223673), complete cds.
AK312468 - Homo sapiens cDNA, FLJ92823.
AB463518 - Synthetic construct DNA, clone: pF1KB6477, Homo sapiens C20orf77 gene for chromosome 20 open reading frame 77, without stop codon, in Flexi system.
CU689672 - Synthetic construct Homo sapiens gateway clone IMAGE:100016707 5' read C20orf77 mRNA.
KJ899384 - Synthetic construct Homo sapiens clone ccsbBroadEn_08778 RPRD1B gene, encodes complete protein.
AK092567 - Homo sapiens cDNA FLJ35248 fis, clone PROST2003583.
AX747603 - Sequence 1128 from Patent EP1308459.
JD523475 - Sequence 504499 from Patent EP1572962.
BC001696 - Homo sapiens regulation of nuclear pre-mRNA domain containing 1B, mRNA (cDNA clone IMAGE:2967326), partial cds.
JD395681 - Sequence 376705 from Patent EP1572962.
AK126484 - Homo sapiens cDNA FLJ44520 fis, clone UTERU3002768.
JD546855 - Sequence 527879 from Patent EP1572962.
JD289672 - Sequence 270696 from Patent EP1572962.
JD330143 - Sequence 311167 from Patent EP1572962.
JD040320 - Sequence 21344 from Patent EP1572962.
JD357720 - Sequence 338744 from Patent EP1572962.
AL117521 - Homo sapiens mRNA; cDNA DKFZp434P0735 (from clone DKFZp434P0735).
JD490430 - Sequence 471454 from Patent EP1572962.
JD348300 - Sequence 329324 from Patent EP1572962.
JD297576 - Sequence 278600 from Patent EP1572962.
JD235984 - Sequence 217008 from Patent EP1572962.
JD094359 - Sequence 75383 from Patent EP1572962.
JD448029 - Sequence 429053 from Patent EP1572962.
JD287051 - Sequence 268075 from Patent EP1572962.
JD378407 - Sequence 359431 from Patent EP1572962.
JD368570 - Sequence 349594 from Patent EP1572962.
JD044902 - Sequence 25926 from Patent EP1572962.
JD562966 - Sequence 543990 from Patent EP1572962.
JD527182 - Sequence 508206 from Patent EP1572962.
JD347971 - Sequence 328995 from Patent EP1572962.
BC020939 - Homo sapiens, clone IMAGE:4284339, mRNA.
JD454338 - Sequence 435362 from Patent EP1572962.
AL080224 - Homo sapiens mRNA; cDNA DKFZp566P1946 (from clone DKFZp566P1946).
JD355047 - Sequence 336071 from Patent EP1572962.
JD200788 - Sequence 181812 from Patent EP1572962.
JD200764 - Sequence 181788 from Patent EP1572962.
JD139399 - Sequence 120423 from Patent EP1572962.
JD083059 - Sequence 64083 from Patent EP1572962.
JD052401 - Sequence 33425 from Patent EP1572962.
JD175121 - Sequence 156145 from Patent EP1572962.
JD327316 - Sequence 308340 from Patent EP1572962.
JD279201 - Sequence 260225 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9NQG5 (Reactome details) participates in the following event(s):

R-HSA-6810235 RPAP2 binds RNA polymerase II phosphorylated at serine-7 residues of heptad repeats in the C-terminal domain
R-HSA-6814885 CBCAP complex binds 7-methylguanosine cap of snRNA
R-HSA-6807505 RNA polymerase II transcribes snRNA genes
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: C20orf77, CREPT, ENST00000373433.1, ENST00000373433.2, ENST00000373433.3, ENST00000373433.4, ENST00000373433.5, ENST00000373433.6, ENST00000373433.7, ENST00000373433.8, NM_021215, Q1WDE7, Q6PKF4, Q9NQG5, RPR1B_HUMAN, uc318ktk.1, uc318ktk.2
UCSC ID: ENST00000373433.9_4
RefSeq Accession: NM_021215.4
Protein: Q9NQG5 (aka RPR1B_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.