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    RPRD1B regulation of nuclear pre-mRNA domain containing 1B [ Homo sapiens (human) ]

    Gene ID: 58490, updated on 3-Nov-2024

    Summary

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    Official Symbol
    RPRD1Bprovided by HGNC
    Official Full Name
    regulation of nuclear pre-mRNA domain containing 1Bprovided by HGNC
    Primary source
    HGNC:HGNC:16209
    See related
    Ensembl:ENSG00000101413 MIM:614694; AllianceGenome:HGNC:16209
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    K-H; CREPT; NET60; C20orf77; Kub5-Hera; dJ1057B20.2
    Summary
    Enables RNA polymerase II complex binding activity and identical protein binding activity. Involved in several processes, including RNA polymerase II promoter clearance; positive regulation of cell population proliferation; and positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. Part of transcription preinitiation complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 7.4), lymph node (RPKM 7.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RPRD1B in Genome Data Viewer
    Location:
    20q11.23
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (38033746..38092364)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (39758090..39816692)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (36662148..36720766)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene RN7SK pseudogene 185 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17853 Neighboring gene TELO2 interacting protein 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:36661589-36662184 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:36662185-36662780 Neighboring gene uncharacterized LOC124904898 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17855 Neighboring gene uncharacterized LOC124904897 Neighboring gene Sharpr-MPRA regulatory region 13539 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12896 Neighboring gene RNA, 7SL, cytoplasmic 237, pseudogene Neighboring gene Sharpr-MPRA regulatory region 2618 Neighboring gene uncharacterized LOC124904899 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:36740455-36740954

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Long non-coding RNA NEAT1 mediated RPRD1B stability facilitates fatty acid metabolism and lymph node metastasis via c-Jun/c-Fos/SREBP1 axis in gastric cancer.
      Title: Long non-coding RNA NEAT1 mediated RPRD1B stability facilitates fatty acid metabolism and lymph node metastasis via c-Jun/c-Fos/SREBP1 axis in gastric cancer.
    2. Immunohistochemical expression levels of cyclin D1 and CREPT reflect the course and prognosis in oral precancerous lesions and squamous cell carcinoma.
      Title: Immunohistochemical expression levels of cyclin D1 and CREPT reflect the course and prognosis in oral precancerous lesions and squamous cell carcinoma.
    3. CREPT serves as a biomarker of poor survival in pancreatic ductal adenocarcinoma.
      Title: CREPT serves as a biomarker of poor survival in pancreatic ductal adenocarcinoma.
    4. CREPT/RPRD1B promotes tumorigenesis through STAT3-driven gene transcription in a p300-dependent manner.
      Title: CREPT/RPRD1B promotes tumorigenesis through STAT3-driven gene transcription in a p300-dependent manner.
    5. RPRD1B is a potentially molecular target for diagnosis and prevention of human papillomavirus E6/E7 infection-induced cervical cancer: A case-control study.
      Title: RPRD1B is a potentially molecular target for diagnosis and prevention of human papillomavirus E6/E7 infection-induced cervical cancer: A case-control study.
    6. CREPT is required for murine stem cell maintenance during intestinal regeneration.
      Title: CREPT is required for murine stem cell maintenance during intestinal regeneration.
    7. MiR-139-5p inhibits the proliferation of gastric cancer cells by targeting Regulation of Nuclear Pre-mRNA Domain Containing 1B.
      Title: MiR-139-5p inhibits the proliferation of gastric cancer cells by targeting Regulation of Nuclear Pre-mRNA Domain Containing 1B.
    8. Overexpression of cell-cycle related and expression-elevated protein in tumor (CREPT) in malignant cervical cancer.
      Title: Overexpression of cell-cycle related and expression-elevated protein in tumor (CREPT) in malignant cervical cancer.
    9. Crosstalk between RNA Pol II C-terminal domain acetylation and phosphorylation via RPRD1B protein and its isoforms has been reported.
      Title: Crosstalk between RNA Pol II C-Terminal Domain Acetylation and Phosphorylation via RPRD Proteins.
    10. these results demonstrate that CREPT exerts an oncogenic role in glioma and its expression is regulated by miR-596.
      Title: CREPT promotes glioma cell proliferation and invasion by activating Wnt/β-catenin pathway and is a novel target of microRNA-596.
    Submit: New GeneRIF Correction See all GeneRIFs (27)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ44520, DKFZp434P0735

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA polymerase II C-terminal domain binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA polymerase II complex binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II complex binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in RNA polymerase II promoter clearance IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mRNA 3'-end processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of cell cycle process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of transcription preinitiation complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    regulation of nuclear pre-mRNA domain-containing protein 1B
    Names
    Ku70-binding protein 5-Hera
    cell-cycle related and expression-elevated protein in tumor

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_021215.4 → NP_067038.1  regulation of nuclear pre-mRNA domain-containing protein 1B

      See identical proteins and their annotated locations for NP_067038.1

      Status: VALIDATED

      Source sequence(s)
      AK092567, BC033629, BP359144
      Consensus CDS
      CCDS13301.1
      UniProtKB/Swiss-Prot
      Q1WDE7, Q6PKF4, Q9NQG5
      Related
      ENSP00000362532.4, ENST00000373433.9
      Conserved Domains (2) summary
      cd17012
      Location:3 → 131
      CID_RPRD1B; CID (CTD-Interacting Domain) of Regulation of nuclear pre-mRNA domain-containing protein 1B
      pfam16566
      Location:178 → 324
      CREPT; Cell-cycle alteration and expression-elevated protein in tumor

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      38033746..38092364
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047440346.1 → XP_047296302.1  regulation of nuclear pre-mRNA domain-containing protein 1B isoform X1

    2. XM_047440347.1 → XP_047296303.1  regulation of nuclear pre-mRNA domain-containing protein 1B isoform X2

      Related
      ENSP00000416420.2, ENST00000449186.2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      39758090..39816692
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323787.1 → XP_054179762.1  regulation of nuclear pre-mRNA domain-containing protein 1B isoform X1

    2. XM_054323788.1 → XP_054179763.1  regulation of nuclear pre-mRNA domain-containing protein 1B isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NQG5.1 GenPept UniProtKB/Swiss-Prot:Q9NQG5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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